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Basic
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Seq./Align.
Variant
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Pathway
Disease

Detail Data SLC22A5


Basic description
Gene Name SLC22A5
Protein Name Solute carrier family 22 member 5 (High-affinity sodium-dependent carnitine cotransporter) (Organic cation/carnitine transporter 2)
Family SLC22
Category Transport of bile salts and organic acids, metal ions and amine compounds
Reaction name OCTN2 / SLC22A5 transports CAR from extracellular space to cytosol
Reaction 1 CAR [extracellular region] + 1 Na+ [extracellular region] --> 1 CAR [cytosol] + 1 Na+ [cytosol]

Network
Structure


[Overview]
Position 1 0 2 0 3 0 4 0 5 0 6 0 7 0 8 0 9 0 1 0 0 1 1 0 1 2 0 1 3 0 1 4 0 1 5 0 1 6 0 1 7 0 1 8 0 1 9 0 2 0 0 2 1 0 2 2 0 2 3 0 2 4 0 2 5 0 2 6 0 2 7 0 2 8 0 2 9 0 3 0 0 3 1 0 3 2 0 3 3 0 3 4 0 3 5 0 3 6 0 3 7 0 3 8 0 3 9 0 4 0 0 4 1 0 4 2 0 4 3 0 4 4 0 4 5 0 4 6 0 4 7 0 4 8 0 4 9 0 5 0 0 5 1 0 5 2 0 5 3 0 5 4 0 5 5 0 AA Pred 
        10         20         30         40         50         60         70         80         90        100        110        120        130        140        150        160        170        180        190        200        210        220        230        240        250        260        270        280        290        300        310        320        330        340        350        360        370        380        390        400        410        420        430        440        450        460        470        480        490        500        510        520        530        540        550 
MRDYDEVTAF LGEWGPFQRL IFFLLSASII PNGFTGLSSV FLIATPEHRC RVPDAANLSS AWRNHTVPLR LRDGREVPHS CRRYRLATIA NFSALGLEPG RDVDLGQLEQ ESCLDGWEFS QDVYLSTIVT EWNLVCEDDW KAPLTISLFF VGVLLGSFIS GQLSDRFGRK NVLFVTMGMQ TGFSFLQIFS KNFEMFVVLF VLVGMGQISN YVAAFVLGTE ILGKSVRIIF STLGVCIFYA FGYMVLPLFA YFIRDWRMLL VALTMPGVLC VALWWFIPES PRWLISQGRF EEAEVIIRKA AKANGIVVPS TIFDPSELQD LSSKKQQSHN ILDLLRTWNI RMVTIMSIML WMTISVGYFG LSLDTPNLHG DIFVNCFLSA MVEVPAYVLA WLLLQYLPRR YSMATALFLG GSVLLFMQLV PPDLYYLATV LVMVGKFGVT AAFSMVYVYT AELYPTVVRN MGVGVSSTAS RLGSILSPYF VYLGAYDRFL PYILMGSLTI LTAILTLFLP ESFGTPLPDT IDQMLRVKGM KHRKTPSHTR MLKDGQERPT ILKSTAF 
CCCHHHHHHH HCCCCHHHHH HHHHHHHHHH HHHHHHHHHH HHHCCCCCCC CCCCCCCCCC CHHHCCCCCC CCCCCCCCHH CCCEECCCCC CCCCCCCCCC CCCCCCCCCE EECCCCEEEC CCCCCCCCCH HCHHHCCCCC CCCHHHHHHH CCCHHCCCCC CCHHHHHCCH HHHHHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHHHH HHCCCCCCCC HHHHHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHHHCCCC CHHHHHCCCH HHHHHHHHHH HHHCCCCCCC CCCCHHHHHC CCCCCCCCHH HHHHHHHHHH HHHHHHHHHH HHHHHHHHHH HHHCCCCCCC CHHHHHHHHH HHHHHHHHHH HHHHHHCCCC HHHHHHHHHH HHHHHHHHCC CCCCHHHHHH HHHHHHHHHH HHHHHHHHHH CCCCCCCCCC HHHHHHCCCC CHHHHHCCHH HHHCCCCCCH HHHHHHHHHH HHHHHHHHCH HHCCCCCCHH HHHHHHHCCC CCCCCCCCCC CCCCCCCCCC CCCCCCC
[Overview] SLC22A1 SLC22A10 SLC22A11 SLC22A12 SLC22A13 SLC22A14 SLC22A15 SLC22A16 SLC22A17 SLC22A18 SLC22A2 SLC22A20 SLC22A23 SLC22A25 SLC22A3 SLC22A32 SLC22A4 SLC22A5 SLC22A6 SLC22A7 SLC22A8 SLC22A9 SLC22B1 SLC22B2 SLC22B3 SLC22B4 SLC22B5 
SLC22A1   --------------------------------MP--------------------------------------------------------------------------------------------------------------------------------------------------------------------TVDDILEQV---GESGWFQKQAFLILC-LLSAAFAPICVGIVFLGFTPDHH-CQSPGV-AELSQ---------RCGW-----------------SPAEELNYTVPGL-GPAGEA--------------FLGQCRRYEVDWNQ------SALSCVDPLASLATNRS-------------HLPLGP-------------C-QDGW------------VYD-TP--GSSIVTEFNLVCADSWKLDLFQSCLNAGFLFGSL----------GVGYFADRFGRKLCLLGTVLVNAVSGVLMAFSPNYM---SMLLFRLLQGLVSKGNWMAGYTLITEFVGSGSRRTVAIM-YQMAFTVGLVALTGLAYAL----------------PHWRWLQLAVSLPTFLFLLYYW--CVPESP------RWLLSQKRNTEAIKIMDHIAQKNGKL-------PPA---D--LKML-SLEEDV------TEKLSPSFADLF----------------------------RTPRLRKRTFILMYLWFTDSVLYQGLILHMGATS----------------------------------------------------------------------------------------------------------------------GN----------LYLDFLYSALVEIPGAFIALITIDR--VGRIYPMA---MSNLLAGAACLVMIFISP---------------------------DLHWLNII----IMCVGRMGITIAIQMICLVNAELYPTF-----------VRNLGVMVCSSLCDIGGIITPFIVFRLREVWQALPLILFAVLGLLAAGVTL-LL---P-ETKGVA---LPETMKDAEN-LGRK--------------A-----KPK----ENTIYLKVQTSE---------------PSGT--------
SLC22A10  --------------------------------MA---------------------------------------------------------------------------------------------------------------------------------------------------------------------FEELLSQV---GGLGRFQMLHLVFIL-PSLMLLIPHILLENFAAAIPGHR-C-----------------------WVHMLDNNTGSGNETGILSEDALLRISIPLD--------------SNL----RPEKCRRFV----------HPQWQLLHLNGTIH-STS-------------EADTEP-------------C-VDGW------------VYD-QSYFPSTIVTKWDLVCDYQSLKSVVQFLLLTGMLVGGI----------IGGHVSDRFGRRFILRWCLLQLAITDTCAAFAPTFP---VYCVLRFLAGFSSMIIISNNSLPITEWIRPNSKALVVIL-SSGALSIGQIILGGLAYVF----------------RDWQTLHVVASVPFFVFFLLSR--WLVESA------RWLIITNKLDEGLKALRKVARTNGIK-------NAEETLN--IEVVRSTMQEE-LDAAQTKT---TVCDLF----------------------------RNPSMRKRICILVFLRFANTIPFYGTMVNLQHVG----------------------------------------------------------------------------------------------------------------------SN----------IFLLQVLYGAVALIVRCLALLTLNH--MGRRISQI---LFMFLVGLSILANTFVPK---------------------------EMQTLRVA----LACLGIGCSAATFSSVAVHFIELIPTV-----------LRARASGIDLTASRIGAALAPLLMT-LTVFFTTLPWIIYGIFPIIGGLIVF-LL---P-ETKNLP---LPDTIKDVEN-------------------Q-----K-K----NLKEKA---------------------------------
SLC22A11  --------------------------------MA---------------------------------------------------------------------------------------------------------------------------------------------------------------------FSKLLEQA---GGVGLFQTLQVLTFI-LPCLMIPSQMLLENFSAAIPGHR-C-----------------------WTHMLDNGSAVST---NMTPKALLTISIPPG--------------PNQ----GPHQCRRFR----------QPQWQLLDPNATAT-SWS-------------EADTEP-------------C-VDGW------------VYD-RSVFTSTIVAKWDLVCSSQGLKPLSQSIFMSGILVGSF----------IWGLLSYRFGRKPMLSWCCLQLAVAGTSTIFAPTFV---IYCGLRFVAAFGMAGIFLSSLTLMVEWTTTSRRAVTMTV-VGCAFSAGQAALGGLAFAL----------------RDWRTLQLAASVPFFAISLISW--WLPESA------RWLIIKGKPDQALQELRKVARINGHK-------EAKN-LT--IEVLMSSVKEE-VASAKEPR---SVLDLF----------------------------CVPVLRWRSCAMLVVNFSLLISYYGLVFDLQSLG----------------------------------------------------------------------------------------------------------------------RD----------IFLLQALFGAVDFLGRATTALLLSF--LGRRTIQA---GSQAMAGLAILANMLVPQ---------------------------DLQTLRVV----FAVLGKGCFGISLTCLTIYKAELFPTP-----------VRMTADGILHTVGRLGAMMGPLILM-SRQALPLLPPLLYGVISIASSLVVLFFL---P-ETQGLP---LPDTIQDLES-------------------Q-----K-S----TAAQGNRQEAVTV-----ESTSL----------------
SLC22A12  --------------------------------MA---------------------------------------------------------------------------------------------------------------------------------------------------------------------FSELLDLV---GGLGRFQVLQTMALM-VSIMWLCTQSMLENFSAAVPSHR-C-----------------------WAPLLDNSTAQASILGSLSPEALLAISIPPG--------------PNQ----RPHQCRRFR----------QPQWQLLDPNATAT-SWS-------------EADTEP-------------C-VDGW------------VYD-RSIFTSTIVAKWNLVCDSHALKPMAQSIYLAGILVGAA----------ACGPASDRFGRRLVLTWSYLQMAVMGTAAAFAPAFP---VYCLFRFLLAFAVAGVMMNTGTLLMEWTAARARPLVMTL-NSLGFSFGHGLTAAVAYGV----------------RDWTLLQLVVSVPFFLCFLYSW--WLAESA------RWLLTTGRLDWGLQELWRVAAINGKG-------AVQDTLT--PEVLLSAMREE-LSMGQPPA---SLGTLL----------------------------RMPGLRFRTCISTLCWFAFGFTFFGLALDLQALG----------------------------------------------------------------------------------------------------------------------SN----------IFLLQMFIGVVDIPAKMGALLLLSH--LGRRPTLA---ASLLLAGLCILANTLVPH---------------------------EMGALRSA----LAVLGLGGVGAAFTCITIYSSELFPTV-----------LRMTAVGLGQMAARGGAILGPLVRL-LGVHGPWLPLLVYGTVPVLSGLAAL-LL---P-ETQSLP---LPDTIQDVQN-------------------Q-----AVK----KATHGTLGNSV-L-----KSTQF----------------
SLC22A13  --------------------------------MA--------------------------------------------------------------------------------------------------------------------------------------------------------------------QFVQVLAEI---GDFGRFQIQLLILLC-VLNFLSPFYFFAHVFMVLDEPHH-CA--------------------VAWV---------KNHTFNLSAAEQLVLSVPLD--------------TAG----HPEPCLMFR----------PPP-----ANASLQ-DIL--SHR--------FNETQP-------------C-DMGW------------EYP-ENRLPS-LKNEFNLVCDRKHLKDTTQSVFMAGLLVGTL----------MFGPLCDRIGRKATILAQLLLFTLIGLATAFVPSFE---LYMALRFAVATAVAGLSFSNVTLLTEWVGPSWRTQAVVL-AQCNFSLGQMVLAGLAYGF----------------RNWRLLQITGTAPGLLLFFYFW--ALPESA------RWLLTRGRMDEAIQLIQKAASVNRRK------------LS--PELMNQLVPEK-TGPSG------NALDLF----------------------------RHPQLRKVTLIIFCVWFVDSLGYYGLSLQVGDFG----------------------------------------------------------------------------------------------------------------------LD----------VYLTQLIFGAVEVPARCSSIFMMQR--FGRKWSQL---GTLVLGGLMCIIIIFIPA---------------------------DLPVVVTM----LAVVGKMATAAAFTISYVYSAELFPTI-----------LRQTGMGLVGIFSRIGGILTPLVIL-LGEYHAALPMLIYGSLPIVAGLLCT-LL---P-ETHGQG---LKDTLQDLEL---------------GPHPR-----SPK----SVPSEKETEAKGR-----TSSPG-------VAFVSSTYF
SLC22A14  --------------------------------MAGE----------------ENFKEEL--------------------------------------------------RSQDAS----------RNLNQ--------HEVAGHPHSWSL-------------------EMLLRRL-------------RAVHTKQDDKFANLLDAV---GEFGTFQQRLVALTF-IPSIMSAFFMFADHFVFTAQKPY-CN--------------------TSWILAVGP---------HLSKAEQLNLTIPQA--------------PNG----SFLTCFMYL----------PVPWNL----DSII-QFG-------------LNDTDT-------------C-QDGW------------IYP-DAK-KRSLINEFDLVCGMETKKDTAQIMFMAGLPIGSL----------IFRLITDKMGRYPAILLSLLGLIIFGFGTAFMNSFH---LYLFFRFGISQSVVGYAISSISLATEWLVGEHRAHAIIL-GHCFFAVGAVLLTGIAYSL----------------PHWQLLFLVGGILVIPFISYIW--ILPESP------RWLMMKGKVKEAKQVLCYAASVNKKT-------------------IPSNLLDE-LQLPRKKVTRASVLDFC----------------------------KNRQLCKVTLVMSCVWFTVSYTYFTLSLRMRELG----------------------------------------------------------------------------------------------------------------------VS----------VHFRHVVPSIMEVPARLCCIFLLQQ--IGRKWSLA---VTLLQAIIWCLLLLFLPEGEDGLRLKWPRCP------------ATELKSMTIL----VLMLREFSLAATVTVFFLYTAELLPTV-----------LRATGLGLVSLASVAGAILS--LTI-ISQTPSLLPIFLCCVLAIVAFSLSS-LL---P-ETRDQP---LSESLNHSSQ-IR----------------N-----KVK----DMKTKETSSDDV---------------------------
SLC22A15  --------------------------------ME---------------------------------------------------------------------------------------------------------------------------------------------------------------------VEEAFQAV---GEMGIYQMYLCFLLAVLLQLYVATEAILIALVGATPSYH-------------------------W---------------------DLAELLPNQ--------------SHG--------------------------------------NQSAGEDQ---------------------------A-FGDWLLTANGSEIHKHVHF-SSSFTS-IASEWFLIANRSYKVSAASSFFFSGVFVGVI----------SFGQLSDRFGRKKVYLTGFALDILFAIANGFSPSYE---FFAVTRFLVGMMNGGMSLVAFVLLNECVGTAYWALAGSI-GGLFFAVGIAQYALLGYFI----------------RSWRTLAILVNLQGTVVFLLSL--FIPESP------RWLYSQGRLSEAEEALYLIAKRNRKL-------KCTFSLT--HPANRSCRETG------------SFLDLF----------------------------RYRVLLGHTLILMFIWFVCSLVYYGLTLSAGDLG----------------------------------------------------------------------------------------------------------------------GS----------IYANLALSGLIEIPSYPLCIYLINQKWFGRKRTLS---AFLCLGGLACLIVMFLPEKK-------------------------DTGVFAVVNSHSLSLLGKLTISAAFNIVYIYTSELYPTV-----------IRNVGLGTCSMFSRVGGIIAPFIPS-LKYVQWSLPFIVFGATGLTSGLLSL-LL---P-ETLNSP---LLETFSDLQV-YSYRRLGEEALSLQALDPQQC---VDK----ESSLGSESEEEEEFYDADEETQMIK--------------
SLC22A16  ------------------------------MGSR--------------------------------------------------------------------------------------------------------------------------------------------------------------------HFEGIYDHV---GHFGRFQRVLYFICA-FQNISCGIHYLASVFMGVTPHHV-CRPPG---NVSQVVFH----NHSNW-----------------S----LEDTGAL--LSSGQKDYVTVQLQNGE-IWELSRCSRNKRE-----------------------NTS-------------SLGYEY-----TGSKKEFPC-VDGY------------IYD-QNTWKSTAVTQWNLVCDRKWLAMLIQPLFMFGVLLGSV----------TFGYFSDRLGRRVVLWATSSSMFLFGIAAAFAVDYY---TFMAARFFLAMVASGYLVVGFVYVMEFIGMKSRTWASVH-LHSFFAVGTLLVALTGYLV----------------RTWWLYQMILSTVTVPFILCCW--VLPETP------FWLLSEGRYEEAQKIVDIMAKWN-----------RASSCK--LSELLSLDLQGPVSNSPTEVQKHNLSYLF----------------------------YNWSITKRTLTVWLIWFTGSLGFYSFSLNSVNLG----------------------------------------------------------------------------------------------------------------------GN----------EYLNLFLLGVVEIPAYTFVCIAMDK--VGRRTVLA---YSLFCSALACGVVMVIPQ---------------------------KHYILGVV----TAMVGKFAIGAAFGLIYLYTAELYPTI-----------VRSLAVGSGSMVCRLASILAPFSVD-LSSIWIFIPQLFVGTMALLSGVLTL-KL---P-ETLGKR---LATTWEEAAK-LESE--------------N-----ESK----SSKLLLTTNNSGL-----EKTEA--ITPRDSGLGE----
SLC22A17  --------------------------------MASD----------------PIFTLA-------------------------------------------------------------------PPLH---------CHYGAFP-----------------------------------------------------------PNA---SG-------------W-----------------EQP-----------PNASGVSV----------------------------------ASAALA-ASAASRVATS---TD-------PSCSGFA----------PPD-------------FN-----------H--------------------C-LKDW------------DYNGLPVLTTNAIGQWDLVCDLGWQVILEQILFILGFASGYL----------FLGYPADRFGRRGIVLLTLGLVGPCGVGGAAAGSST---GVMALRFLLGFLLAGVDLGVYLMRLELCDPTQRLRVALA-GELVGVGGHFLFLGLALVS----------------KDWRFLQRMITAPCILFLFYGWPGLFLESA------RWLIVKRQIEEAQSVLRILAERNR---------PHGQMLG---EEAQEALQDLENTCPLPATSSFSFASLL----------------------------NYRNIWKNLLILGFTNFIAHAIRHCYQPVGGGGS-------------------------------------------------------------------------------------------------------------------P--SD----------FYLCSLLASGTAALACVFLGVTVDR--FGRRGILL---LSMTLTGIASLVLLGLWD---------CEHPIFPTVWAQQGNPNRDLNEAAIT---TFSVLGLFSSQAAAILSTLLAAEVIPTT-----------VRGRGLGLIMALGALGGLSGPAQRL-HMGHGAFLQHVVLAACALLCILSIM-LL---P-ETKRKL---LPEVLRDGEL-CRRPSLLR------QPPPT-----RCD----HVPLLAT--------------------PNPAL-------
SLC22A18  --------------------------------MQGA---------------------------------------RA-------------------------------------------------------------------PRDQGRSP----------------------------------------------------------GRMSALGRSSVILLT-------------------------------------------------YV----------------------------------------------------------------------------------------------------LAATELT------------C-----------------LFM-QFSIVPYLSRKLGL------------DSIAFGYLQTTF-GVLQLLGGPVFGRFADQRGARAALTLSFLAALALYLLLAAASSPALPGVYLLFASRLPGALMHTLPAAQMVITDLSAPEERPAALGR-LGLCFGVGVILGSLLGGTLVSAYGIQCP-------------AILAALATLLGAVLSF-TCIPAST-----------------------KGAKTDAQAPLPG--GPRASVFD--LKAIASLLRLP------------DVPRIF----------LVKVASNCP-----------------TGLFMVMFSIISMDFFQLEAAQAGYL----------------------------------------------------------------------------------------------------------------------MS--------FFGLLQMVTQGLV----------------IGQLSSHF---SEEVLLRASVLVFIVVGL---------------------------AMAWMSSV--FHFCLLVPGLVFSLCTLNVVTDSMLIKAVSTS--------DTGTMLGLCASVQPLLRTLGPTVGG-LLYRSFGVP--VFGHVQVAINTLVLLVLWRKP----------MPQ--------------------------R-----KDKV---R--------------------------------------
SLC22A2   --------------------------------MP-------------------------------------------------------------------------------------------------------------------------------------------------------------------TTVDDVLEHG---GEFHFFQKQMFFLLA-LLSATFAPIYVGIVFLGFTPDHR-CRSPGV-AELSL---------RCGW-----------------SPAEELNYTVPGP-GPAGEA--------------SPRQCRRYEVDWNQ------STFDCVDPLASLDTNRS-------------RLPLGP-------------C-RDGW------------VYE-TP--GSSIVTEFNLVCANSWMLDLFQSSVNVGFFIGSM----------SIGYIADRFGRKLCLLTTVLINAAAGVLMAISPTYT---WMLIFRLIQGLVSKAGWLIGYILITEFVGRRYRRTVGIF-YQVAYTVGLLVLAGVAYAL----------------PHWRWLQFTVSLPNFFFLLYYW--CIPESP------RWLISQNKNAEAMRIIKHIAKKNGKS-------LPA---S--LQRL-RLEEET------GKKLNPSFLDLV----------------------------RTPQIRKHTMILMYNWFTSSVLYQGLIMHMGLAG----------------------------------------------------------------------------------------------------------------------DN----------IYLDFFYSALVEFPAAFMIILTIDR--IGRRYPWA---ASNMVAGAACLASVFIPG---------------------------DLQWLKII----ISCLGRMGITMAYEIVCLVNAELYPTF-----------IRNLGVHICSSMCDIGGIITPFLVYRLTNIWLELPLMVFGVLGLVAGGLVL-LL---P-ETKGKA---LPETIEEAEN-MQRP--------------R-----KNK----EKMIYLQVQKLD--------------IPLN---------
SLC22A20  ------------------------------MAMA---------------------------------------------------------------------------------------------------------------------------------------------------------------------FTDLLDAL---GSMGRFQLNHTALLL-LPCGLLACHNFLQNFTAAVPPHH-CRGPANHTEASTNDS-------GAW----------------------LRATIPLD--------------QLG----APEPCRRFT----------KPQWALLSPNSSIP-----------------GAATEG-------------C-KDGW------------VYN-RSVFPSTIVMEWDLVCEARTLRDLAQSVYMAGVLVGAA----------VFGSLADRLGCKGPLVWSYLQLAASGAATAYFSSFS---AYCVFRFLMGMTFSGIILNSVSLVASRV--------------------------IPLAP----------------PAW---QVPVSC--------------TESAEGGCNEREEGGRGKADQGGDELLHPKRV-------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------CK----------CLHLQLNLGPLPNPGHPQGHM-LSH--GDLRGRQ----------------------------------------------------------------------------------------------------RSSGSG------EQGGSCEP------ESRNGRLPA----------------VA---P-AGLGLPFVHLPLSAREKQI-LS----------------S-----KFQ----S--------------------------------------
SLC22A23  MAIDRRREAAGGGPGRQPAPAEENGSLPPGDAAASA----------------PLGGRAG--------------------------------------------------PGGGAEIQ------PLPPLHPGGGPHPSCCSAAAAPS------------------------LLLL-----------------------DYDGSVLPFL---GGLGGGYQKTLVLLTWIPALFIGFSQFSDSFLLDQPNFW-CRGAGKGTELAGVTTTGRGGDMGNWT----------------SLPTTPFATAPWE-AAGNRSNSSG---ADGGDTPPLPS---------------PPDKGD---------NAS-----------N--------------------CDCRAW------------DYGIRAGLVQNVVSKWDLVCDNAWKVHIAKFSLLVGLIFGYL----------ITGCIADWVGRRPVLLFSIIFILIFGLTVALSVNVT---MFSTLRFFEGFCLAGIILTLYALRIELCPPGKRFMITMV-ASFVAMAGQFLMPGLAALC----------------RDWQVLQALIICPFLLMLLY-W-SIFPESL------RWLMATQQFESAKRLILHFTQKNRMN-------PEGDIKGVIPELEKELSRRPKKVC---------IVKVV----------------------------GTRNLWKNIVVLCVNSLTGYGIHHCFARSMMGHEVK----------------------------------------------------------------------------------------------------------------VPLLEN----------FYADYYTTASIALVSCLAMCVVVRF--LGRRGGLL---LFMILTALASLLQLGLLN----LIGKYSQHP-------DSGMSDSVKDKFSI----AFSIVGMFASHAVGSLSVFFCAEITPTV-----------IRCGGLGLVLASAGFGMLTAPIIEL-HNQKGYFLHHIIFACCTLICIICIL-LL---P-ESRDQN---LPENISNGEH-YTRQPLL----------PH-----KKG----EQPLLLTNAELKDYSGLHDAAAAGDTLPEGATANGMKAM
SLC22A25  --------------------------------MA---------------------------------------------------------------------------------------------------------------------------------------------------------------------FQDLLDQV---GGLGRFQILQMVFLI-MFNVIVYHQTQLENFAAFILDHR-C-----------------------WVHILDNDTIPDNDPGTLSQDALLRISIPFD--------------SNL----RPEKCRRFV----------HPQWKLIHLNGTFP-NTS-------------EPDTEP-------------C-VDGW------------VYD-QSSFPSTIVTKWDLVCESQPLNSVAKFLFMAGMMVGGN----------LYGHLSDRFGRKFVLRWSYLQLAIVGTCAAFAPTIL---VYCSLRFLAGAATFSIIVNTVLLIVEWITHQFCAMALTL-TLCAASIGHITLGSLAFVI----------------RDQCILQLVMSAPCFVFFLFSR--WLAESA------RWLIINNKPEEGLKELRKAAHRNGMK-------NAEDILT--MEVLKSTMKQE-LEAAQKKH---SLCELL----------------------------RIPNICKRICFLSFVRFASTIPFWGLTLHLQHLG----------------------------------------------------------------------------------------------------------------------NN----------VFLLQTLFGAVTLLANCVAPWALNH--MSRRLSQM---LLMFLLATCLLAIIFVPQ---------------------------EMQTLRVV----LATLGVGAASLGITCSTAQENELIPSI-----------IRGRATGITGNFANIGGALASLMMI-LSIYSRPLPWIIYGVFAILSGLVVL-LL---P-ETRNQP---LLDSIQDVEN-------------------E-----G-V----NSLAAPQ---R-S-----SVL------------------
SLC22A3   --------------------------------MP--------------------------------------------------------------------------------------------------------------------------------------------------------------------SFDEALQRV---GEFGRFQRRVFLLLC-LTGVTFAFLFVGVVFLGTQPDHYWCRGPSA-AALAE---------RCGW-----------------SPEEEWNRTAPASRGPEPPE--------------RRGRCQRYLLEAANDSASATSALSCADPLAAFP-NRS--------------APLVP-------------C-RGGW------------RYA-QA--HSTIVSEFDLVCVNAWMLDLTQAILNLGFLTGAF----------TLGYAADRYGRIVIYLLSCLGVGVTGVVVAFAPNFP---VFVIFRFLQGVFGKGTWMTCYVIVTEIVGSKQRRIVGIV-IQMFFTLGIIILPGIAYFI----------------PNWQGIQLAITLPSFLFLLYYW--VVPESP------RWLITRKKGDKALQILRRIAKCNGKY-------LSS---N--YSEI-TVTDE--------EVSNPSFLDLV----------------------------RTPQMRKCTLILMFAWFTSAVVYQGLVMRLGIIG----------------------------------------------------------------------------------------------------------------------GN----------LYIDFFISGVVELPGALLILLTIER--LGRRLPFA---ASNIVAGVACLVTAFLPE---------------------------GIAWLRTT----VATLGRLGITMAFEIVYLVNSELYPTT-----------LRNFGVSLCSGLCDFGGIIAPFLLFRLAAVWLELPLIIFGILASICGGLVM-LL---P-ETKGIA---LPETVDDVEK-LGSP--------------HSCKCGRNK----KT-------------------------PVSRSHL-----
SLC22A32  --------------------------------MG--------------------------------------WG-----------------------------------GGGGCTPR--------PPIHQ----QP--------PER---------------------------------------------------------------------RVVTVVFLG-LLLDLLAFTLLLPLLPGLLESHGRAHDP----------------LYGSW--------------------------------------------QGG-------------------------------------------------------------------------V---DWF---------------ATAIGMPVEKRYNSV--------------LFGGLIGSAFSVLQFLCAPLTGATSDCLGRRPVMLLCLMGVATSYAVWATSRSFA---AFLASRLIGGISKGNVSLST-AIVADLGSPLARSQGMAV-IGVAFSLGFTLGPMLGASL------PLEM------APWFALLFAASDLLFIF------CFLPETL--PLEKRAPSIALGFRDAADLLSPLALLRFSAVARGQDPPSGDRLS-------------------------SLRRLG-----------------------------------------LVYFLYLFLFSGLEYTLSFLT---------------------------------HQRFQF-------------------------------------------------------------------------------SS----LQQGKMFFLIGLTMATIQGA-------------YARRIHPGGE-----VAAVKRALLLLVPA--FLLIG-----------W-----------------GRSLPVLGLGLLLYSFAAAVVV-----PCLSSVVAGYGSPGQKGTVMGTLRSLGALARAAGPLVAASV--------YWLAGAQACFTTWSGLFLL---P--------FFLLQKLSYPAQ-------------------------TLKA---E--------------------------------------
SLC22A4   --------------------------------MR--------------------------------------------------------------------------------------------------------------------------------------------------------------------DYDEVIAFL---GEWGPFQRLIFFLLS-ASIIPNGFNGMSVVFLAGTPEHR-CRVPDA-ANLS-----------SAW-----------------R-----NNSVPLR-LRDGRE--------------VPHSCSRYR-------------------LATIA-NFS-------------ALGLEPGRDVDLGQLEQESC-LDGW------------EFS-QDVYLSTVVTEWNLVCEDNWKVPLTTSLFFVGVLLGSF----------VSGQLSDRFGRKNVLFATMAVQTGFSFLQIFSISWE---MFTVLFVIVGMGQISNYVVAFILGTEILGKSVRIIFSTLGVCTFFAVGYMLLPLFAYFI----------------RDWRMLLLALTVPGVLCVPLWW--FIPESP------RWLISQRRFREAEDIIQKAAKMNNIA-------VPAVIFD--SVE--ELNPL--------KQQKAFILDLF----------------------------RTRNIAIMTIMSLLLWMLTSVGYFALSLDAPNLH----------------------------------------------------------------------------------------------------------------------GD----------AYLNCFLSALIEIPAYITAWLLLRT--LPRRYIIA---AVLFWGGGVLLFIQLVPV---------------------------DYYFLSIG----LVMLGKFGITSAFSMLYVFTAELYPTL-----------VRNMAVGVTSTASRVGSIIAPYFVY-LGAYNRMLPYIVMGSLTVLIGILTL-FF---P-ESLGMT---LPETLEQMQK-VKWF--------------R-----SGK----KTRDSMETEEN----------------PKVL-ITAF---
SLC22A5   --------------------------------MR--------------------------------------------------------------------------------------------------------------------------------------------------------------------DYDEVTAFL---GEWGPFQRLIFFLLS-ASIIPNGFTGLSSVFLIATPEHR-CRVPDA-ANLS-----------SAW-----------------R-----NHTVPLR-LRDGRE--------------VPHSCRRYR-------------------LATIA-NFS-------------ALGLEPGRDVDLGQLEQESC-LDGW------------EFS-QDVYLSTIVTEWNLVCEDDWKAPLTISLFFVGVLLGSF----------ISGQLSDRFGRKNVLFVTMGMQTGFSFLQIFSKNFE---MFVVLFVLVGMGQISNYVAAFVLGTEILGKSVRIIFSTLGVCIFYAFGYMVLPLFAYFI----------------RDWRMLLVALTMPGVLCVALWW--FIPESP------RWLISQGRFEEAEVIIRKAAKANGIV-------VPSTIFD--PSELQDLSSK--------KQQSHNILDLL----------------------------RTWNIRMVTIMSIMLWMTISVGYFGLSLDTPNLH----------------------------------------------------------------------------------------------------------------------GD----------IFVNCFLSAMVEVPAYVLAWLLLQY--LPRRYSMA---TALFLGGSVLLFMQLVPP---------------------------DLYYLATV----LVMVGKFGVTAAFSMVYVYTAELYPTV-----------VRNMGVGVSSTASRLGSILSPYFVY-LGAYDRFLPYILMGSLTILTAILTL-FL---P-ESFGTP---LPDTIDQMLR-VKGM--------------K-----HRKT-PSHTRMLKDGQER----------------PTILKSTAF---
SLC22A6   --------------------------------MA---------------------------------------------------------------------------------------------------------------------------------------------------------------------FNDLLQQV---GGVGRFQQIQVTLVV-LPLLLMASHNTLQNFTAAIPTHH-CR-PPADANLSKNGG------LEVW--------------------------LPRD--------------RQG----QPESCLRFT----------SPQWGLPFLNGTEA-NGT--------------GATEP-------------C-TDGW------------IYD-NSTFPSTIVTEWDLVCSHRALRQLAQSLYMVGVLLGAM----------VFGYLADRLGRRKVLILNYLQTAVSGTCAAFAPNFP---IYCAFRLLSGMALAGISLNCMTLNVEWMPIHTRACVGTL-IGYVYSLGQFLLAGVAYAV----------------PHWRHLQLLVSAPFFAFFIYSW--FFIESA------RWHSSSGRLDLTLRALQRVARINGKR-------EEGAKLS--MEVLRASLQKE-LTMGKGQA---SAMELL----------------------------RCPTLRHLFLCLSMLWFATSFAYYGLVMDLQGFG----------------------------------------------------------------------------------------------------------------------VS----------IYLIQVIFGAVDLPAKLVGFLVINS--LGRRPAQM---AALLLAGICILLNGVIPQ---------------------------DQSIVRTS----LAVLGKGCLAASFNCIFLYTGELYPTM-----------IRQTGMGMGSTMARVGSIVSPLVSM-TAELYPSMPLFIYGAVPVAASAVTV-LL---P-ETLGQP---LPDTVQDLESRWAPTQ------KEAGIYPR-----KGK----QTRQQQEHQK--------YMVPLQASAQEKNGL------
SLC22A7   --------------------------------MG---------------------------------------------------------------------------------------------------------------------------------------------------------------------FEELLEQV---GGFGPFQLRNVALLA-LPRVLLPLHFLLPIFLAAVPAHR-CALPGAPANFSHQ---------DVW----------------------LEAHLPRE--------------PDG----TLSSCLRFA----------YPQ--------ALP-NTTLGEERQSRGELEDEPATVP-------------C-SQGW------------EYD-HSEFSSTIATEWDLVCEQKGLNRAASTFFFAGVLVGAV----------AFGYLSDRFGRRRLLLVAYVSTLVLGLASAASVSYV---MFAITRTLTGSALAGFTIIVMPLELEWLDVEHRTVAGVL-SSTFWTGGVMLLALVGYLI----------------RDWRWLLLAVTLPCAPGILSLW--WVPESA------RWLLTQGHVKEAHRYLLHCARLNGRP-------VCEDSFS--QEAVSKVAAGE-RVVRRP-----SYLDLF----------------------------RTPRLRHISLCCVVVWFGVNFSYYGLSLDVSGLG----------------------------------------------------------------------------------------------------------------------LN----------VYQTQLLFGAVELPSKLLVYLSVRY--AGRRLTQA---GTLLGTALAFGTRLLVSS---------------------------DMKSWSTV----LAVMGKAFSEAAFTTAYLFTSELYPTV-----------LRQTGMGLTALVGRLGGSLAPLAAL-LDGVWLSLPKLTYGGIALLAAGTAL-LL---P-ETRQAQ---LPETIQDVER---------------------------K----SAPTSLQEEEMPM-----KQVQN----------------
SLC22A8   --------------------------------MT---------------------------------------------------------------------------------------------------------------------------------------------------------------------FSEILDRV---GSMGHFQFLHVAILG-LPILNMANHNLLQIFTAATPVHH-CR-PPHNASTGP------------WV-------------------------LPMG--------------PNG----KPERCLRFV----------HPP------NASLP-NDT-------------QRAMEP-------------C-LDGW------------VY--NST-KDSIVTEWDLVCNSNKLKEMAQSIFMAGILIGGL----------VLGDLSDRFGRRPILTCSYLLLAASGSGAAFSPTFP---IYMVFRFLCGFGISGITLSTVILNVEWVPTRMRAIMSTA-LGYCYTFGQFILPGLAYAI----------------PQWRWLQLTVSIPFFVFFLSSW--WTPESI------RWLVLSGKSSKALKILRRVAVFNGKK-------EEGERLS--LEELKLNLQKE-ISLAKAKY---TASDLF----------------------------RIPMLRRMTFCLSLAWFATGFAYYSLAMGVEEFG----------------------------------------------------------------------------------------------------------------------VN----------LYILQIIFGGVDVPAKFITILSLSY--LGRHTTQA---AALLLAGGAILALTFVPL---------------------------DLQTVRTV----LAVFGKGCLSSSFSCLFLYTSELYPTV-----------IRQTGMGVSNLWTRVGSMVSPLVKI-TGEVQPFIPNIIYGITALLGGSAAL-FL---P-ETLNQP---LPETIEDLEN-WS----------------L-----RAK----KPKQEPEVEKA-S-----QRIPLQPHGP---GLGSS---
SLC22A9   --------------------------------MA---------------------------------------------------------------------------------------------------------------------------------------------------------------------FQDLLGHA---GDLWRFQILQTVFLS-IFAVATYLHFMLENFTAFIPGHR-C-----------------------WVHILDNDTVSDNDTGALSQDALLRISIPLD--------------SNM----RPEKCRRFV----------HPQWQLLHLNGTFP-NTS-------------DADMEP-------------C-VDGW------------VYD-RISFSSTIVTEWDLVCDSQSLTSVAKFVFMAGMMVGGI----------LGGHLSDRFGRRFVLRWCYLQVAIVGTCAALAPTFL---IYCSLRFLSGIAAMSLITNTIMLIAEWATHRFQAMGITL-GMCPSGIAFMTLAGLAFAI----------------RDWHILQLVVSVPYFVIFLTSS--WLLESA------RWLIINNKPEEGLKELRKAAHRSGMK-------NARDTLT--LEILKSTMKKE-LEAAQKKK--PSLCEML----------------------------HMPNICKRISLLSFTRFANFMAYFGLNLHVQHLG----------------------------------------------------------------------------------------------------------------------NN----------VFLLQTLFGAVILLANCVAPWALKY--MNRRASQM---LLMFLLAICLLAIIFVPQ---------------------------EMQTLREV----LATLGLGASALANTLAFAHGNEVIPTI-----------IRARAMGINATFANIAGALAPLMMI-LSVYSPPLPWIIYGVFPFISGFAFL-LL---P-ETRNKP---LFDTIQDEKN-------------------E-----R-K----DPREPKQEDPR-V-----EVTQF----------------
SLC22B1   --------------------------------MEEGFRDRAAFIRGAKDIAKEVKKHAAKKVVKGLDRVQDEYSRRSYSRFEEEDDDDDFPAPSDGYYRGEGTQDEEE---GGASSDATEGHDEDDEIYE--------GEYQGIPRAESGG---------KGERMADGAPLAGVRGGLSDGEGPPGGRGEAQRRKEREELAQQYEAILRECGHGRFQWTLYFVLG-LALMADGVEVFVVGFV--LPSAE-KD----------------------M------------------------------------------------------------------------------------------------------------------------C-LSDS----------------NKGMLGLIV--------------------YLGMMVGAF----------LWGGLADRLGRRQCLLISLSVNSVFAFFSSFVQGYG---TFLFCRLLSGVGIGGSIPIVFSYFSEFLAQEKRGEHLSW-LCMFWMIGGVYAAAMAWAIIPHYGWSFQMGSAYQFHSWRVFVLVCAFPSVFAIGALT--TQPESP------RFFLENGKHDEAWMVLKQVHDTNMRAK-----GHPERVFS--VTHIKTIHQED------------ELIEIQSDTGTWYQRWGVRALSLGGQVWGNFLSCFGPEYRRITLMMMGVWFTMSFSYYGLTVWFPDMIRHLQAVDYASRTKVFPGERVEHVTFNFTLENQIHRGGQYFNDKFIGLRLKSVSFEDSLFEECYFEDVTSSNTFFRNCTFINTVFYNTDLFEYKFVNSRLINSTFLHNKEGCPL------DVTGTGEGAYMVYFVSFLGTLAVLPGNIVSALLMDK--IGRLRMLA---GSSVMSCVSCFFLSFGNS-ESAMIA--------------------------------LLCLFGGVSIASWNALDVLTVELYPSD-----------KRTTAFGFLNALCKLAAVLGISIFTSFVGITKAAPILFASAALALGSSLAL-KL---P-ETRGQV---LQ-------------------------------------------------------------------------------
SLC22B2   --------------------------------MDDY-------------------------------KYQDNYG--------------GY-APSDGYYRGNESNPEED-----AQSDVTEGHDEEDEIYE--------GEYQGIPHPDDVKAKQAKMAPSRMDSLRGQTDL------------------MAERLEDEEQLAHQYETIMDECGHGRFQWILFFVLG-LALMADGVEVFVVSFA--LPSAE-KD----------------------M------------------------------------------------------------------------------------------------------------------------C-LSSS----------------KKGMLGMIV--------------------YLGMMAGAF----------ILGGLADKLGRKRVLSMSLAVNASFASLSSFVQGYG---AFLFCRLISGIGIGGALPIVFAYFSEFLSREKRGEHLSW-LGIFWMTGGLYASAMAWSIIPHYGWGFSMGTNYHFHSWRVFVIVCALPCTVSMVALK--FMPESP------RFLLEMGKHDEAWMILKQVHDTNMRAK-----GTPEKVFT--VSNIKTPKQMD------------EFIEIQSSTGTWYQRWLVRFKTIFKQVWDNALYCVMGPYRMNTLILAVVWFAMAFSYYGLTVWFPDMIRYFQDEEYKSKMKVFFGEHVYGATINFTMENQIHQHGKLVNDKFTRMYFKHVLFEDTFFDECYFEDVTSTDTYFKNCTIESTIFYNTDLYEHKFINCRFINSTFLEQKEGCHMDLE--QDND------FLIYLVSFLGSLSVLPGNIISALLMDR--IGRLKMIG---GSMLISAVCCFFLFFGNS-ESAMIG--------------------------------WQCLFCGTSIAAWNALDVITVELYPTN-----------QRATAFGILNGLCKFGAILGNTIFASFVGITKVVPILLAAASLVGGGLIAL-RL---P-ETREQV---LM-------------------------------------------------------------------------------
SLC22B3   --------------------------------MEDSYKDRTSLMKGAKDIAREVKKQTVKKVNQAVDRAQDEYTQRSYSRFQDEEDDDDY-YPAGETYNGEANDDE-------GSSEATEGHDEDDEIYE--------GEYQGIPSMNQAKDSIVSVGQPKGDEYKDRREL------------------ESERRADEEELAQQYELIIQECGHGRFQWALFFVLG-MALMADGVEVFVVGFV--LPSAE-TD----------------------L------------------------------------------------------------------------------------------------------------------------C-IPNS----------------GSGWLGSIV--------------------YLGMMVGAF----------FWGGLADKVGRKQSLLICMSVNGFFAFLSSFVQGYG---FFLFCRLLSGFGIGGAIPTVFSYFAEVLAREKRGEHLSW-LCMFWMIGGIYASAMAWAIIPHYGWSFSMGSAYQFHSWRVFVIVCALPCVSSVVALT--FMPESP------RFLLEVGKHDEAWMILKLIHDTNMRAR-----GQPEKVFT--VNKIKTPKQID------------ELIEIESDTGTWYRRCFVRIRTELYGIWLTFMRCFNYPVRDNTIKLTIVWFTLSFGYYGLSVWFPDVIKPLQSDEYALLTRNVERDKYANFTINFTMENQIHTGMEYDNGRFIGVKFKSVTFKDSVFKSCTFEDVTSVNTYFKNCTFIDTVFDNTDFEPYKFIDSEFKNCSFFHNKTGCQITFD--DDYS-----AYWIYFVNFLGTLAVLPGNIVSALLMDR--IGRLTMLG---GSMVLSGISCFFLWFGTS-ESMMIG--------------------------------MLCLYNGLTISAWNSLDVVTVELYPTD-----------RRATGFGFLNALCKAAAVLGNLIFGSLVSITKSIPILLASTVLVCGGLVGL-CL---P-DTRTQV---LM-------------------------------------------------------------------------------
SLC22B4   --------------------------------MEED------LF--------QLRQLPVVKFRRT----------------------------------GESARSEDDTASGEHEVQIEGVHVGLEAVEL--------DDGAAVPKE------------------------------------------FANPTDDTFMVEDAVEAI----GFGKFQWKLSVLTG-LAWMADAMEMMILSIL--APQLH-CE----------------------W------------------------------------------------------------------------------------------------------------------------R-LPSW----------------QVALLTSVV--------------------FVGMMSSST----------LWGNISDQYGRKTGLKISVLWTLYYGILSAFAPVYS---WILVLRGLVGFGIGG-VPQSVTLYAEFLPMKARAKCILL-IEVFWAIGTVFEVVLAVFVMPSLG-------------WRWLLILSAVPLLLFAVLCF--WLPESA------RYDVLSGNQEKAIATLKRIATENGAP-------MPLGKLI--ISRQEDRGKMR------------DL--------------------------------FTPHFRWTTLLLWFIWFSNAFSYYGLVLLTTELFQAGDVCGISSRKKAV----------------------------------------------------------EAKCSLA------------------------------CEYLSE--ED-----------YMDLLWTTLSEFPGVLVTLWIIDR--LGRKKTMAL---CFVIFSFCSLLLFICVG-RNVLTL--------------------------------LLFIARAFISGGFQAAYVYTPEVYPTA-----------TRALGLGTCSGMARVGALITPFIAQVMLESSVYLTLAVYSGCCLLAALASC-FL---PIETKGRG---LQESSHREWG-------------------QEM-VGRGMHGAGVTRSNSGSQE-----------------------------
SLC22B5   --------------------------------MATKPTEPVTIL--------SLRKLSL----------------------------------------------------GTAEPQVKE------------------------PK--------------------------------------------------TFTVEDAVETI----GFGRFHIALFLIMG-STGVVEAMEIMLIAVV--SPVIR-CE----------------------W------------------------------------------------------------------------------------------------------------------------Q-LENW----------------QVALVTTMV--------------------FFGYMVFSI----------LFGLLADRYGRWKILLISFLWGAYFSLLTSFAPSYI---WFVFLRTMVGCGVSG-HSQGLIIKTEFLPTKYRGYMLPL-SQVFWLAGSLLIIGLASVIIPTIG-------------WRWLIRVASIPGIILIVAFK--FIPESA------RFNVSTGNTRAALATLERVAKMNRSV-------MPEGKLV--EPVLEKRGRFA------------DL--------------------------------LDAKYLRTTLQIWVIWLGISFAYYGVILASAELLERDLVCGSKSDSAVV---------------------------------------------------VTGGDSGESQSPCY------------------------------CHMFAP--SD-----------YRTMIISTIGEIALNPLNILGINF--LGRRLSLSITMGCTALF---FLLLNICTS-SAGLIG--------------------------------FLFMLRALVAANFNTVYIYTAEVYPTT-----------MRALGMGTSGSLCRIGAMVAPFISQVLMSASILGALCLFSSVCVVCAISAF-TL---PIETKGRA---LQQIK----------------------------------------------------------------------------

Variant
check gene name residue number Reference Amino Acid / Variant Amino Acid minor allele frequency rs number
-- SLC22A5 12 G/S 0.000710518 rs139203363
-- SLC22A5 17 F/L 0.000124386 rs11568520
-- SLC22A5 20 L/H 0.0010148 rs144020613
-- SLC22A5 46 P/S 0.000446348 rs202088921
-- SLC22A5 83 R/L 0.000268193 rs72552726
-- SLC22A5 96 G/A 0.000413899 rs377767450
-- SLC22A5 122 D/Y 0.000378523 rs201082652
-- SLC22A5 139 D/N 0.000107359 rs577131769
-- SLC22A5 144 L/F 0.0057894 rs10040427
-- SLC22A5 191 K/R 0.000198818 rs200290813
-- SLC22A5 202 L/P 0.000143146 rs142447950
-- SLC22A5 214 A/V 0.000723681 rs386134199
-- SLC22A5 271 V/M 0.000103413 rs143013773
-- SLC22A5 302 K/E 0.000481121 rs75783492
-- SLC22A5 312 I/V 0.000850915 rs77300588
-- SLC22A5 381 M/T 0.000147128 rs149730454
-- SLC22A5 399 R/W 0.000119298 rs267607054
-- SLC22A5 410 G/D 0.000186925 rs200125400
-- SLC22A5 417 M/V 0.000994407 rs139775414
-- SLC22A5 449 Y/D 0.000254495 rs11568514
-- SLC22A5 467 S/C 0.000170996 rs60376624
-- SLC22A5 481 V/I 0.000708446 rs11568513
-- SLC22A5 488 R/H 0.00324926 rs28383481
-- SLC22A5 527 V/L 0.000234718 rs145792427
-- SLC22A5 530 M/I 0.000930839 rs148233131
-- SLC22A5 548 R/K 0.000218719 rs150775371
-- SLC22A5 549 P/S 0.00539234 rs11568525

Phylogenetic tree

Pathway
Priority Gene Name Reactome (Gene) Reactome (Pathway)
main SLC22A5 SLC22A5 [plasma membrane] Organic cation transport
SLC22A5 SLC22A5 [plasma membrane] Import of palmitoyl-CoA into the mitochondrial matrix

Disease
Gene Name Reactome (Gene) Reactome (Pathway)
SLC22A5 SLC22A5 W132* [plasma membrane] Defective SLC22A5 causes systemic primary carnitine deficiency (CDSP)
SLC22A5 SLC22A5 R169Q [plasma membrane] Defective SLC22A5 causes systemic primary carnitine deficiency (CDSP)
SLC22A5 SLC22A5 P478L [plasma membrane] Defective SLC22A5 causes systemic primary carnitine deficiency (CDSP)
SLC22A5 SLC22A5 R254* [plasma membrane] Defective SLC22A5 causes systemic primary carnitine deficiency (CDSP)
SLC22A5 SLC22A5 G15W [plasma membrane] Defective SLC22A5 causes systemic primary carnitine deficiency (CDSP)
SLC22A5 SLC22A5 R169W [plasma membrane] Defective SLC22A5 causes systemic primary carnitine deficiency (CDSP)