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Basic
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Structure
Seq./Align.
Variant
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Pathway
Disease

Detail Data SLC6A5


Basic description
Gene Name SLC6A5
Protein Name Sodium- and chloride-dependent glycine transporter 2 (GlyT-2) (GlyT2) (Solute carrier family 6 member 5)
Family SLC6
Category Transport of bile salts and organic acids, metal ions and amine compounds
Reaction name -
Reaction -

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 5 6 0 5 7 0 5 8 0 5 9 0 6 0 0 6 1 0 6 2 0 6 3 0 6 4 0 6 5 0 6 6 0 6 7 0 6 8 0 6 9 0 7 0 0 7 1 0 7 2 0 7 3 0 7 4 0 7 5 0 7 6 0 7 7 0 7 8 0 7 9 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        560        570        580        590        600        610        620        630        640        650        660        670        680        690        700        710        720        730        740        750        760        770        780        790 
MDCSAPKEMN KLPANSPEAA AAQGHPDGPC APRTSPEQEL PAAAAPPPPR VPRSASTGAQ TFQSADARAC EAERPGVGSC KLSSPRAQAA SAALRDLREA QGAQASPPPG SSGPGNALHC KIPFLRGPEG DANVSVGKGT LERNNTPVVG WVNMSQSTVV LATDGITSVL PGSVATVATQ EDEQGDENKA RGNWSSKLDF ILSMVGYAVG LGNVWRFPYL AFQNGGGAFL IPYLMMLALA GLPIFFLEVS LGQFASQGPV SVWKAIPALQ GCGIAMLIIS VLIAIYYNVI ICYTLFYLFA SFVSVLPWGS CNNPWNTPEC KDKTKLLLDS CVISDHPKIQ IKNSTFCMTA YPNVTMVNFT SQANKTFVSG SEEYFKYFVL KISAGIEYPG EIRWPLALCL FLAWVIVYAS LAKGIKTSGK VVYFTATFPY VVLVILLIRG VTLPGAGAGI WYFITPKWEK LTDATVWKDA ATQIFFSLSA AWGGLITLSS YNKFHNNCYR DTLIVTCTNS ATSIFAGFVI FSVIGFMANE RKVNIENVAD QGPGIAFVVY PEALTRLPLS PFWAIIFFLM LLTLGLDTMF ATIETIVTSI SDEFPKYLRT HKPVFTLGCC ICFFIMGFPM ITQGGIYMFQ LVDTYAASYA LVIIAIFELV GISYVYGLQR FCEDIEMMIG FQPNIFWKVC WAFVTPTILT FILCFSFYQW EPMTYGSYRY PNWSMVLGWL MLACSVIWIP IMFVIKMHLA PGRFIERLKL VCSPQPDWGP FLAQHRGERY KNMIDPLGTS SLGLKLPVKD LELGTQC 
CCCCCCCCCC CCCCCCHHHH HCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCHHCHH HHHHHHHHHH CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCEE CCCCCCCCCC CCCHHHCCCC CCCCCCCCCC CCCCCCHHHH HHHHHHHHHC CCHHHHHHHH HHCCCCCCEE HHHHHHHHHC CCCEEEEHHH HHHHHCCCCH HHHHHCHHHC CCHHHHHHHH HHHHHHHHHH HHHHHHHHHH HCCCCCCCCC CCCCCCCHHH HCHHHCHHCC CCCCCCCCCC CCCCCCCCCC CCCCCEECCC CCCHHCCCCC CHHHHHHHHE ECCCCCCCCC CCHHHHHHHH HHHHHHHHHH HHCCCCHHCH HHHHHCHHHH HHHHHHHHHH CCCCCCCCCC CCCCCCCHHH HCCCHHHHHH HHHHHHHHHH HHHCHHHHHC CCCCCCCCCC CCEEEHHHCC CHHCCCCCEE EHHHHHHHHH CCCEEEECCC CCCCCCEECC HHHHHHCCCC HHHHHHHHHH HHHHCCCHHH HHHHHHHCCC CHHHHHHHHC CCHHHHHHHH HHHHHHHHHH HHCCCCCCHH CCHHHHHHHH HHHHHHHHHH EEEEECCCHH HHHCCHHHHC CCCCCEEEEE HHHCCCHHHH HEEEEECCCC CCCCCCCCCC HHHHHHHHHH HHHHHHHHHH HHHHHHHHHC CCCHHHHHHH HCCCCCCCCC CCHHHHHHHH HHHCCCCCCC CCCCCCCCCC CCCCCCC
[Overview] SLC6A1 SLC6A11 SLC6A12 SLC6A13 SLC6A14 SLC6A15 SLC6A16 SLC6A17 SLC6A18 SLC6A19 SLC6A2 SLC6A20 SLC6A3 SLC6A4 SLC6A5 SLC6A6 SLC6A7 SLC6A8 SLC6A9 
SLC6A1    ---------MAT----------------NG----------------------------------------SKVADGQIS---------------------------TEVSEAPVA------------------NDKPK------------------------------------------------TLVVKVQKKAADLPD------RDTWKGRFDFLMSCVGYAIGLGNVWRFPYLCGKNGGGAFLIPYFLTLIFAGVPLFLLECSLGQYTSIGGLGVW-KLAPMFKGVGLAAAVLSFWLNIYYIVIISWAIYYLYNSFTTTLPWKQC------DNPWNTDRC-------F--------SNYSM----------------------VN-TTNMT------------SAVVEFWERNMHQM--TDGLDKPGQIRWPLAITLAIAWILVYFCIWKGVGWTGKVVYFSATYPYIMLIILFFRGVTLPGAKEGILFYITPN--FRKLSDSEVWLDAATQIFFSYGLGLGSLIALGSYNSFHNNVYRDSIIVCCINSCTSMFAGFVIFSIVGFMAHVT----------------------------KRSIADVAAS---------------------------------------GPGLAFLAYPEAVTQLPISPLWAILFFSMLLMLGIDSQFCTVEGFITALVDEY---PRLLR--NRRELFIAAVCIISYLIGLSNITQGGIYVFKLFDYYSASGMSLLFLVFFECVSISWFYGVNRFYDNIQEMVGSRPCIW---WKLCWSFFTPIIVAGVFIFSAV---QMTPLTMGN-YV---------------FPKWGQGVGWLMALSSMVLIPGY--------------MAYMFLTLKG-SLKQRIQVMVQPSEDIVRPE-----NGPEQPQA-----------GSS-------------------------TSKEAYI-----------------------
SLC6A11   ----------MTAE--------KALPLGNG----------------------------------------KAAEEARESEAPGG----------------------GCSSGGAAP------------------ARHP------------------------------------------------------RVKRDKAVHE------RGHWNNKVEFVLSVAGEIIGLGNVWRFPYLCYKNGGGAFLIPYVVFFICCGIPVFFLETALGQFTSEGGITCWRKVCPLFEGIGYATQVIEAHLNVYYIIILAWAIFYLSNCFTTELPWATC------GHEWNTENC-------VEFQ-KLNVSNYSH----------------------VS-LQNAT------------SPVMEFWEHRVLAI--SDGIEHIGNLRWELALCLLAAWTICYFCIWKGTKSTGKVVYVTATFPYIMLLILLIRGVTLPGASEGIKFYLYPD--LSRLSDPQVWVDAGTQIFFSYAICLGCLTALGSYNNYNNNCYRDCIMLCCLNSGTSFVAGFAIFSVLGFMAYEQ----------------------------GVPIAEVAES---------------------------------------GPGLAFIAYPKAVTMMPLSPLWATLFFMMLIFLGLDSQFVCVESLVTAVVDMY---PKVFRRGYRRELLILALSVISYFLGLVMLTEGGMYIFQLFDSYAASGMCLLFVAIFECICIGWVYGSNRFYDNIEDMIGYRPPSL---IKWCWMIMTPGICAGIFIFFLI---KYKPLKYNNIYT---------------YPAWGYGIGWLMALSSMLCIPLW--------------ICITVWKTEG-TLPEKLQKLTTPSTDLKM-------RGKLG---------------VSPRMV-TVNDCDAKLKSDGT--IAAITEKETHF-----------------------
SLC6A12   -------------------------------------------------------------------------MDGKVA-VQEC----------------------GPPAVSWVP------------------EEGEK----------------------------------------------------LDQEDEDQVKD------RGQWTNKMEFVLSVAGEIIGLGNVWRFPYLCYKNGGGAFFIPYFIFFFVCGIPVFFLEVALGQYTSQGSVTAWRKICPLFQGIGLASVVIESYLNVYYIIILAWALFYLFSSFTSELPWTTC------NNFWNTEHC-------TDF---LNHSGAGT----------------------VTPFENFT------------SPVMEFWERRVLGI--TSGIHDLGSLRWELALCLLLAWVICYFCIWKGVKSTGKVVYFTATFPYLMLVILLIRGVTLPGAYQGIIYYLKPD--LFRLKDPQVWMDAGTQIFFSFAICQGCLTALGSYNKYHNNCYKDCIALCFLNSATSFVAGFVVFSILGFMSQEQ----------------------------GVPISEVAES---------------------------------------GPGLAFIAFPKAVTMMPLSQLWSCLFFIMLIFLGLDSQFVCVECLVTASIDMF---PRQLRKSGRRELLILTIAVMCYLIGLFLVTEGGMYIFQLFDYYASSGICLLFLSLFEVVCISWVYGADRFYDNIEDMIGYRPWPL---VKISWLFLTPGLCLATFLFSLS---KYTPLKYNNVYV---------------YPPWGYSIGWFLALSSMVCVPLF--------------VVITLLKTRG-PFRKRLRQLITPDSSLPQPKQHPCLDGSAGRNF-----------GPSPTR-------------EGL--IAG--EKETHL-----------------------
SLC6A13   -------------------------------------------------------------------------MDSRVS---------------------------GTTSNGETK------------------PVYPV----------------------------------------------------MEKKEEDGTLE------RGHWNNKMEFVLSVAGEIIGLGNVWRFPYLCYKNGGGAFFIPYLVFLFTCGIPVFLLETALGQYTSQGGVTAWRKICPIFEGIGYASQMIVILLNVYYIIVLAWALFYLFSSFTIDLPWGGC------YHEWNTEHC-------MEFQ-KTNGSLNG------------------------T-SENAT------------SPVIEFWERRVLKI--SDGIQHLGALRWELALCLLLAWVICYFCIWKGVKSTGKVVYFTATFPYLMLVVLLIRGVTLPGAAQGIQFYLYPN--LTRLWDPQVWMDAGTQIFFSFAICLGCLTALGSYNKYHNNCYRDCIALCFLNSGTSFVAGFAIFSILGFMSQEQ----------------------------GVPISEVAES---------------------------------------GPGLAFIAYPRAVVMLPFSPLWACCFFFMVVLLGLDSQFVCVESLVTALVDMY---PHVFRKKNRREVLILGVSVVSFLVGLIMLTEGGMYVFQLFDYYAASGMCLLFVAIFESLCVAWVYGAKRFYDNIEDMIGYRPWPL---IKYCWLFLTPAVCTATFLFSLI---KYTPLTYNKKYT---------------YPWWGDALGWLLALSSMVCIPAW--------------SLYRLGTLKG-PFRERIRQLMCPAEDLPQ-------RNPAGPSA-----------PATPRT---------------S--LLRLTELESHC-----------------------
SLC6A14   ----------MDKL-------------------------------------KCP-----------------------------------SFFKCRE----------KEKVSAS--------------------------SENFHVG------------------------------------------------ENDENQD------RGNWSKKSDYLLSMIGYAVGLGNVWRFPYLTYSNGGGAFLIPYAIMLALAGLPLFFLECSLGQFASLGPVSVW-RILPLFQGVGITMVLISIFVTIYYNVIIAYSLYYMFASFQSELPWKNC------SS-WSDKNC--SRSPIVTHCNVSTVNKGIQEIIQMNKSW-------------VD-INNFTCINGSEIYQPGQLPSEQYWNKVALQR--SSGMNETGVIVWYLALCLLLAWLIVGAALFKGIKSSGKVVYFTALFPYVVLLILLVRGATLEGASKGISYYIGAQSNFTKLKEAEVWKDAATQIFYSLSVAWGGLVALSSYNKFKNNCFSDAIVVCLTNCLTSVFAGFAIFSILGHMAHIS----------------------------GKEVSQVVKS---------------------------------------GFDLAFIAYPEALAQLPGGPFWSILFFFMLLTLGLDSQFASIETITTTIQDLF---PKVMK--KMRVPITLGCCLVLFLLGLVCVTQAGIYWVHLIDHFCAG-WGILIAAILELVGIIWIYGGNRFIEDTEMMIGAKRWIFWLWWRACWFVITPILLIAIFIWSLV---QFHRPNYGA-IP---------------YPDWGVALGWCMIVFCIIWIPIM--------------AIIKIIQAKG-NIFQRLISCCRPASNWGP----YLEQHRGERYKDMV----------DPK-------KEADH-EIPT--VSGSRKPE--------------------------
SLC6A15   ----------MPKN------------------------------------------------------------------------SKVVKRELDDD---------VTESVKDLLS-----------------NEDAADDA---------------------FKTSELIVDGQE-------------EKDTDVEEGSEVED-----ERPAWNSKLQYILAQVGFSVGLGNVWRFPYLCQKNGGGAYLLPYLILLMVIGIPLFFLELSVGQRIRRGSIGVWNYISPKLGGIGFASCVVCYFVALYYNVIIGWSLFYFSQSFQQPLPWDQCPLVKNASHTFVEPEC------------------------------------------------------------EQSSATTYYWYREALNI--SSSISESGGLNWKMTICLLAAWVMVCLAMIKGIQSSGKIIYFSSLFPYVVLICFLIRAFLLNGSIDGIRHMFTPK--LEIMLEPKVWREAATQVFFALGLGFGGVIAFSSYNKRDNNCHFDAVLVSFINFFTSVLATLVVFAVLGFKANVINEKCITQNSETIMKFLKMGNISQDIIPHHINLSTVTAEDYHLVYDIIQKVKEEEFPAL---HLNSCKIEEELNKAVQGTGLAFIAFTEAMTHFPASPFWSVMFFLMLVNLGLGSMFGTIEGIVTPIVDTFKV---------RKEILTVICCLLAFCIGLIFVQRSGNYFVTMFDDYSAT-LPLLIVVILENIAVCFVYGIDKFMEDLKDMLGFAPSRY---YYYMWKYISPLMLLSLLIASVV-NMGLSPPGYNA-WIEDKASEEFLS-----YPTWGLVVCVSLVVFAILPVPVVFIVRRFNLIDDSSGNLASVTYKRGRVLKEPVNL----EGDDTSLIH-----------------GKIPSEMPSPNFGKNIYRKQSGSPTLDTA---PNGRYGIGYLMADI-MPDMPESDL--------
SLC6A16   ----------MKTE-----AQPSTSLLANTSWTGTVISD------------SVPGSQTWEDKGSLTRSATSWTSEAQVSAARVAE-AQARTSQPKQISV-------LEALTASAL------------------NQKPT-----------------------------------------------HEKVQMTEKKESEVLL-----ARPFWSSKTEYILAQVGFSMKPSCLWRFAYLWLNSGGCSFAAIYIFMLFLVGVPLLFLEMAAGQSMRQGGMGVWKIIAPWIGGVGYSSFMVCFILGLYFNVVNSWIIFYMSQSFQFPVPWEKCPL--TMNSSGFDPEC------------------------------------------------------------ERTTPSIYFWYQQALKA--SDRIEDGGSPVYSLVLPFFLCWCLVGAFMINGLKSTGKVIYVLVLLPCFIIVGFFIRTLLLEGAKFGLQQLVVAK--ISDVYNMSVWSLAGGQVLSNTGIGLGSVASLASYMPQSNNCLSDAFLVSVINLLTLLVFTSFNFCVLGFWATVITHRCCERNAEILLKLINLGKLPPDA---KPPVNLLYNP--TSIYNAWLSGLPQHIKSMVLREVTECNIETQFLKASEGPKFAFLSFVEAMSFLPPSVFWSFIFFLMLLAMGLSSAIGIMQGIITPLQDTF----SFFR--KHTKLLIVGVFLLMFVCGLFFTRPSGSYFIRLLSDYWIV-FPIIVVVVFETMAVSWAYGARRFLADLTILLGHPISPI---FGWLWPHLCPVVLLIIFVTMMV-HLCMKPITYMS-WDSSTSKEVLRP-----YPPWALLLMITLFAIVILPIPAYF-------------VYCRIHRIPF-----------RPKSGDGPMTA----------------------STSLPLSHQ----------------LTPSKEVQKEEIL------QVDETKYPSTCNVTS
SLC6A17   ----------MPKN------------------------------------------------------------------------SKVTQREHSSEH--------VTESVADLLA-----------------LEEPVD-----------------------YKQSVLNVAGEA------------GGKQKAVEEELDAED------RPAWNSKLQYILAQIGFSVGLGNIWRFPYLCQKNGGGAYLVPYLVLLIIIGIPLFFLELAVGQRIRRGSIGVWHYICPRLGGIGFSSCIVCLFVGLYYNVIIGWSIFYFFKSFQYPLPWSECPVVRNGSVAVVEAEC------------------------------------------------------------EKSSATTYFWYREALDI--SDSISESGGLNWKMTLCLLVAWSIVGMAVVKGIQSSGKVMYFSSLFPYVVLACFLVRGLLLRGAVDGILHMFTPK--LDKMLDPQVWREAATQVFFALGLGFGGVIAFSSYNKQDNNCHFDAALVSFINFFTSVLATLVVFAVLGFKANIMNEKCVVENAEKILGYLNTNVLSRDLIPPHVNFSHLTTKDYMEMYNVIMTVKEDQFSAL---GLDPCLLEDELDKSVQGTGLAFIAFTEAMTHFPASPFWSVMFFLMLINLGLGSMIGTMAGITTPIIDTFKV---------PKEMFTVGCCVFAFLVGLLFVQRSGNYFVTMFDDYSAT-LPLTLIVILENIAVAWIYGTKKFMQELTEMLGFRPYRF---YFYMWKFVSPLCMAVLTTASII-QLGVTPPGYSA-WIKEEAAERYLY-----FPNWAMALLITLIVVATLPIPVVFVLRHFHLLSDGSNTL-SVSYKKGRMMKDISNL---EENDETRFIL-----------------SKVPSEAPSPMPTHRSYLGPGSTSPLETS-GNPNGRYGSGYLLA-----STPESEL--------
SLC6A18   ----------MAH-----------------------------------------------------------------------------APEPD-------------PAACDL-------------------------------------------------------------------------------------GD-----ERPKWDNKAQYLLSCTGFAVGLGNIWRFPYLCQTYGGGAFLIPYVIALVFEGIPIFHVELAIGQRLRKGSVGVWTAISPYLSGVGLGCVTLSFLISLYYNTIVAWVLWYLLNSFQHPLPWSSCPP--DLNRTGFVEEC------------------------------------------------------------QGSSAVSYFWYRQTLNI--TADINDSGSIQWWLLICLAASWAVVYMCVIRGIETTGKVIYFTALFPYLVLTIFLIRGLTLPGATKGLIYLFTPN--MHILQNPRVWLDAATQIFFSLSLAFGGHIAFASYNSPRNDCQKDAVVIALVNRMTSLYASIAVFSVLGFKATNDYEHCLDRNILSLINDFDFPE------------QSISRDDYPAVLMHLNATWPKRVAQL---PLKACLLEDFLDKSASGPGLAFVVFTETDLHMPGAPVWAMLFFGMLFTLGLSTMFGTVEAVITPLLDVGVL-PRW----VPKEALTGLVCLVCFLSATCFTLQSGNYWLEIFDNFAAS-PNLLMLAFLEVVGVVYVYGMKRFCDDIAWMTGRRPSPY---WRLTWRVVSPLL-LTIFVAYII-LLFWKPLRYKA-W--NPKYELFPSRQEKLYPGWARAACVLLSLLPVLWVPVA--------------ALAQLLTRRRRTWRDRDAR---PDTDMRPDTD-----------------TRPDTDM------------------------RPDTDMR--------------------------
SLC6A19   ----------MVRL---------------------------------------------------------------------------VLPNPGLDA--------RIPSLAELET-----------------IEQ-------------------------------------------------------------EEAS-----SRPKWDNKAQYMLTCLGFCVGLGNVWRFPYLCQSHGGGAFMIPFLILLVLEGIPLLYLEFAIGQRLRRGSLGVWSSIHPALKGLGLASMLTSFMVGLYYNTIISWIMWYLFNSFQEPLPWSDCPL--NENQTGYVDEC------------------------------------------------------------ARSSPVDYFWYRETLNI--STSISDSGSIQWWMLLCLACAWSVLYMCTIRGIETTGKAVYITSTLPYVVLTIFLIRGLTLKGATNGIVFLFTPN--VTELAQPDTWLDAGAQVFFSFSLAFGGLISFSSYNSVHNNCEKDSVIVSIINGFTSVYVAIVVYSVIGFRATQRYDDCFSTNILTLINGFDLPE------------GNVTQENFVDMQQRCNASDPAAYAQL---VFQTCDINAFLSEAVEGTGLAFIVFTEAITKMPLSPLWSVLFFIMLFCLGLSSMFGNMEGVVVPLQDLRVIPPKW-----PKEVLTGLICLGTFLIGFIFTLNSGQYWLSLLDSYAGS-IPLLIIAFCEMFSVVYVYGVDRFNKDIEFMIGHKPNIF---WQVTWRVVSPLLMLIIFLFFFV-VEVSQELTYSI-W--DPGYEEFPKSQKISYPNWVYVVVVIVAGVPSLTIPGY--------------AIYKLI-------RNHCQK---P-GDHQGLVS-----------------TLSTASM------------------------NGDLKY---------------------------
SLC6A2    -----MLLARMNPQ-----VQPENNGADTGPE-------------------QPLRARK-------TAELLVVKE---RNGVQ-------CLLAPR-----------DG--DAQ---------------------------------------------------------------------------------------P------RETWGKKIDFLLSVVGFAVDLANVWRFPYLCYKNGGGAFLIPYTLFLIIAGMPLFYMELALGQYNREGAATVW-KICPFFKGVGYAVILIALYVGFYYNVIIAWSLYYLFSSFTLNLPWTDC------GHTWNSPNC--------------------------------TD--PKLLNGSVL-G-NHTKYS-----KYKFTPAAEFYERGVLHLHESSGIHDIGLPQWQLLLCLMVVVIVLYFSLWKGVKTSGKVVWITATLPYFVLFVLLVHGVTLPGASNGINAYLHID--FYRLKEATVWIDAATQIFFSLGAGFGVLIAFASYNKFDNNCYRDALLTSSINCITSFVSGFAIFSILGYMAHEH----------------------------KVNIEDVATE---------------------------------------GAGLVFILYPEAISTLSGSTFWAVVFFVMLLALGLDSSMGGMEAVITGLADDF----QVLK--RHRKLFTFGVTFSTFLLALFCITKGGIYVLTLLDTFAAG-TSILFAVLMEAIGVSWFYGVDRFSNDIQQMMGFRPGLY---WRLCWKFVSPAFLLFVVVVSII---NFKPLTYDD-YI---------------FPPWANWVGWGIALSSMVLVPIY--------------VIYKFLSTQG-SLWERLAYGITPENEHHLVAQRDIRQFQLQHWLAI-------------------------------------------------------------------
SLC6A20   ----------MEK-------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------ARPLWANSLQFVFACISYAVGLGNVWRFPYLCQMYGGGSFLVPYIIMLIVEGMPLLYLELAVGQRMRQGSIGAWRTISPYLSGVGVASVVVSFFLSMYYNVINAWAFWYLFHSFQDPLPWSVCPL--NGNHTGYDEEC------------------------------------------------------------EKASSTQYFWYRKTLNI--SPSLQENGGVQWEPALCLLLAWLVVYLCILRGTESTGKVVYFTASLPYCVLIIYLIRGLTLHGATNGLMYMFTPK--IEQLANPKAWINAATQIFFSLGLGFGSLIAFASYNEPSNNCQKHAIIVSLINSFTSIFASIVTFSIYGFKATFNYENCLKKVSLLLTNTFDLED------------GFLTASNLEQVKGYLASAYPSKYSEMF-PQIKNCSLESELDTAVQGTGLAFIVYTEAIKNMEVSQLWSVLYFFMLLMLGIGSMLGNTAAILTPLTDSKIISSHL-----PKEAISGLVCLVNCAIGMVFTMEAGNYWFDIFNDYAAT-LSLLLIVLVETIAVCYVYGLRRFESDLKAMTGRAVSWY---WKVMWAGVSPLLIVSLFVFYLSDYILTGTLKYQA-W--DASQGQLVTKD---YPAYALAVIGLLVASSTMCIPLA--------------ALGTFVQRRLK--R----------GDADPVA----------------------------------------------------------------------------------
SLC6A3    MSKSKCSVGLMSSV-----VAPAKEPNAVGP--------------------------K-------EVELILVKE---QNGVQLT---SSTLTNPR-----------QSPVEAQ---------------------------------------------------------------------------------------D------RETWGKKIDFLLSVIGFAVDLANVWRFPYLCYKNGGGAFLVPYLLFMVIAGMPLFYMELALGQFNREGAAGVW-KICPILKGVGFTVILISLYVGFFYNVIIAWALHYLFSSFTTELPWIHC------NNSWNSPNC--------------------------------SDAHPGDSSGDSS-GLNDT---------FGTTPAAEYFERGVLHLHQSHGIDDLGPPRWQLTACLVLVIVLLYFSLWKGVKTSGKVVWITATMPYVVLTALLLRGVTLPGAIDGIRAYLSVD--FYRLCEASVWIDAATQVCFSLGVGFGVLIAFSSYNKFTNNCYRDAIVTTSINSLTSFSSGFVVFSFLGYMAQKH----------------------------SVPIGDVAKD---------------------------------------GPGLIFIIYPEAIATLPLSSAWAVVFFIMLLTLGIDSAMGGMESVITGLIDEF----QLLH--RHRELFTLFIVLATFLLSLFCVTNGGIYVFTLLDHFAAG-TSILFGVLIEAIGVAWFYGVGQFSDDIQQMTGQRPSLY---WRLCWKLVSPCFLLFVVVVSIV---TFRPPHYGA-YI---------------FPDWANALGWVIATSSMAMVPIY--------------AAYKFCSLPG-SFREKLAYAIAPEKDRELVDRGEVRQFTLRHWLKV-------------------------------------------------------------------
SLC6A4    --------------------------METTP----------------------LNSQK-------QLSACEDGEDCQENGVL-----QKVVPTPG-----------DKVESGQIS--NGYSA-----------VPSPG--------------------------------AGDDTRHSIPAT-------TTTLVAELHQGE------RETWGKKVDFLLSVIGYAVDLGNVWRFPYICYQNGGGAFLLPYTIMAIFGGIPLFYMELALGQYHRNGCISIWRKICPIFKGIGYAICIIAFYIASYYNTIMAWALYYLISSFTDQLPWTSC------KNSWNTGNC--------------------------------TNYFSED---------NIT-WT-----LHSTSPAEEFYTRHVLQIHRSKGLQDLGGISWQLALCIMLIFTVIYFSIWKGVKTSGKVVWVTATFPYIILSVLLVRGATLPGAWRGVLFYLKPN--WQKLLETGVWIDAAAQIFFSLGPGFGVLLAFASYNKFNNNCYQDALVTSVVNCMTSFVSGFVIFTVLGYMAEMR----------------------------NEDVSEVAKD--------------------------------------AGPSLLFITYAEAIANMPASTFFAIIFFLMLITLGLDSTFAGLEGVITAVLDEF---PHVWA--KRRERFVLAVVITCFFGSLVTLTFGGAYVVKLLEEYATG-PAVLTVALIEAVAVSWFYGITQFCRDVKEMLGFSPGWF---WRICWVAISPLFLLFIICSFLM---SPPQLRLFQ-YN---------------YPYWSIILGYCIGTSSFICIPTY--------------IAYRLIITPG-TFKERIIKSITPETPTE-IPCGDIRLNAV-------------------------------------------------------------------------
SLC6A5    --MDCSAPKEMNKLPANSPEAAAAQGHPDGPCAPRTSPEQELPAAAAPPPPRVPRSAS-------TGAQTFQSADARACEAERPGVGSCKLSSPRAQAASAALRDLREAQGAQASPPPGSSGPGNALHCKIPFLRGPEGDANVSVGKGTLERNNTPVVGWVNMSQSTVVLATDGITSVLP------GSVATVATQEDEQGDENKA--RGNWSSKLDFILSMVGYAVGLGNVWRFPYLAFQNGGGAFLIPYLMMLALAGLPIFFLEVSLGQFASQGPVSVW-KAIPALQGCGIAMLIISVLIAIYYNVIICYTLFYLFASFVSVLPWGSC------NNPWNTPECKDKTKLLLDSCVISDHPK-----IQIKNSTFCMTAYPN-----VT-MVNFTSQAN----KTFVSGSEEYFKYFVLKI--SAGIEYPGEIRWPLALCLFLAWVIVYASLAKGIKTSGKVVYFTATFPYVVLVILLIRGVTLPGAGAGIWYFITPK--WEKLTDATVWKDAATQIFFSLSAAWGGLITLSSYNKFHNNCYRDTLIVTCTNSATSIFAGFVIFSVIGFMANER----------------------------KVNIENVADQ---------------------------------------GPGIAFVVYPEALTRLPLSPFWAIIFFLMLLTLGLDTMFATIETIVTSISDEF---PKYLR--THKPVFTLGCCICFFIMGFPMITQGGIYMFQLVDTYAAS-YALVIIAIFELVGISYVYGLQRFCEDIEMMIGFQPNIF---WKVCWAFVTPTILTFILCFSFY---QWEPMTYGS-YR---------------YPNWSMVLGWLMLACSVIWIPIM--------------FVIKMHLAPG-RFIERLKLVCSPQPDWGP----FLAQHRGERYKNMI----------DPL---------------------GTSSLGLKLPVKDLELGTQC------------
SLC6A6    ---------MATKE--------KLQCL----------------------------------------------KDFHKDILK--------------------------PSPGKSP------------------GTRP------------------------------------------------------EDEAEGKPPQ------REKWSSKIDFVLSVAGGFVGLGNVWRFPYLCYKNGGGAFLIPYFIFLFGSGLPVFFLEIIIGQYTSEGGITCWEKICPLFSGIGYASVVIVSLLNVYYIVILAWATYYLFQSFQKELPWAHC------NHSWNTPHC-------MEDTMRKNKSVWIT----------------------IS-STNFT------------SPVIEFWERNVLSL--SPGIDHPGSLKWDLALCLLLVWLVCFFCIWKGVRSTGKVVYFTATFPFAMLLVLLVRGLTLPGAGAGIKFYLYPD--ITRLEDPQVWIDAGTQIFFSYAICLGAMTSLGSYNKYKYNSYRDCMLLGCLNSGTSFVSGFAIFSILGFMAQEQ----------------------------GVDIADVAES---------------------------------------GPGLAFIAYPKAVTMMPLPTFWSILFFIMLLLLGLDSQFVEVEGQITSLVDLY---PSFLRKGYRREIFIAFVCSISYLLGLTMVTEGGMYVFQLFDYYAASGVCLLWVAFFECFVIAWIYGGDNLYDGIEDMIGYRPGPW---MKYSWAVITPVLCVGCFIFSLV---KYVPLTYNKTYV---------------YPNWAIGLGWSLALSSMLCVPLV--------------IVIRLCQTEG-PFLVRVKYLLTPRE--PN-------RWAVERE------------GATPYN------------SRTV--MNGALVKPTHIIV---------ETMM--------
SLC6A7    ----------MKKL-----------------------------------------------------------------------------------------------QGAH--------------------LRKP----------------------------------------VTP------DLLMTPSDQGDVDLDVDFAAHRGNWTGKLDFLLSCIGYCVGLGNVWRFPYRAYTNGGGAFLVPYFLMLAICGIPLFFLELSLGQFSSLGPLAVW-KISPLFKGAGAAMLLIVGLVAIYYNMIIAYVLFYLFASLTSDLPWEHC------GNWWNTELC-------LEHRVSKDG----------------NGALP----------LNLTCT---------VSPSEEYWSRYVLHIQGSQGIGSPGEIRWNLCLCLLLAWVIVFLCILKGVKSSGKVVYFTATFPYLILLMLLVRGVTLPGAWKGIQFYLTPQ--FHHLLSSKVWIEAALQIFYSLGVGFGGLLTFASYNTFHQNIYRDTFIVTLGNAITSILAGFAIFSVLGYMSQEL----------------------------GVPVDQVAKA---------------------------------------GPGLAFVVYPQAMTMLPLSPFWSFLFFFMLLTLGLDSQFAFLETIVTAVTDEF---PYYLR--PKKAVFSGLICVAMYLMGLILTTDGGMYWLVLLDDYSAS-FGLMVVVITTCLAVTRVYGIQRFCRDIHMMLGFKPGLY---FRACWLFLSPATLLALMVYSIV---KYQPSEYGS-YR---------------FPPWAELLGILMGLLSCLMIPAG--------------MLVAVLREEG-SLWERLQQASRPAMDWGP----SLEENRTGMYVATLAGSQ----SPKPLM------VHMRK-------YGGITSFENTAIEVDREIAEEEESMM--------
SLC6A8    ----------MAKK--------SAE---NGI--------------------------------------YSVSGDEKKGPLIAP----------------------G-PDGAPAK------------------GDGPV------------------------------------------------G--LGTPGGRLAVPP------RETWTRQMDFIMSCVGFAVGLGNVWRFPYLCYKNGGGVFLIPYVLIALVGGIPIFFLEISLGQFMKAGSINVW-NICPLFKGLGYASMVIVFYCNTYYIMVLAWGFYYLVKSFTTTLPWATC------GHTWNTPDC-------VEI---FRHEDCAN----------------------AS-LANLTCDQLADR----RSPVIEFWENKVLRL--SGGLEVPGALNWEVTLCLLACWVLVYFCVWKGVKSTGKIVYFTATFPYVVLVVLLVRGVLLPGALDGIIYYLKPD--WSKLGSPQVWIDAGTQIFFSYAIGLGALTALGSYNRFNNNCYKDAIILALINSGTSFFAGFVVFSILGFMAAEQ----------------------------GVHISKVAES---------------------------------------GPGLAFIAYPRAVTLMPVAPLWAALFFFMLLLLGLDSQFVGVEGFITGLLDLL---PASYYFRFQREISVALCCALCFVIDLSMVTDGGMYVFQLFDYYSASGTTLLWQAFWECVVVAWVYGADRFMDDIACMIGYRPCPW---MKWCWSFFTPLVCMGIFIFNVV---YYEPLVYNNTYV---------------YPWWGEAMGWAFALSSMLCVPLH--------------LLGCLLRAKG-TMAERWQHLTQPIWGLHH------LEYRAQ---------------------------DADVRGLTT--LTPVSESSKVVVV---------ESVM--------
SLC6A9    ----------------------------------------------------------------------MSGGDTRA-----------AIARPRM-------------AAAH----------------------GP----------------------------------------VAPSSPEQNGAVPSEATKRDQNLK------RGNWGNQIEFVLTSVGYAVGLGNVWRFPYLCYRNGGGAFMFPYFIMLIFCGIPLFFMELSFGQFASQGCLGVW-RISPMFKGVGYGMMVVSTYIGIYYNVVICIAFYYFFSSMTHVLPWAYC------NNPWNTHDC----AGVLDASNLTNGSR--------------PAALPSN---LSH-LLNHSLQR--------TSPSEEYWRLYVLKL--SDDIGNFGEVRLPLLGCLGVSWLVVFLCLIRGVKSSGKVVYFTATFPYVVLTILFVRGVTLEGAFDGIMYYLTPQ--WDKILEAKVWGDAASQIFYSLGCAWGGLITMASYNKFHNNCYRDSVIISITNCATSVYAGFVIFSILGFMANHL----------------------------GVDVSRVADH---------------------------------------GPGLAFVAYPEALTLLPISPLWSLLFFFMLILLGLGTQFCLLETLVTAIVDEVG--NEWIL--QKKTYVTLGVAVAGFLLGIPLTSQAGIYWLLLMDNYAAS-FSLVVISCIMCVAIMYIYGHRNYFQDIQMMLGFPPPLF---FQICWRFVSPAIIFFILVFTVI---QYQPITYNH-YQ---------------YPGWAVAIGFLMALSSVLCIPLY--------------AMFRLCRTDGDTLLQRLKNATKPSRDWGP----ALLEHRTGRYAPTIAPSPEDGFEVQPL--------HPDKAQIPIVGSNGSSRLQDSRI----------------------

Variant
check gene name residue number Reference Amino Acid / Variant Amino Acid minor allele frequency rs number
-- SLC6A5 20 A/V 0.000414663 rs200496125
-- SLC6A5 26 P/S 0.000116916 rs749057466
-- SLC6A5 32 P/L 0.00021987 rs527326906
-- SLC6A5 45 A/G 0.000388651 rs755131121
-- SLC6A5 46 P/R 0.00426782 rs12364685
-- SLC6A5 89 A/E 0.0208459 rs61736602
-- SLC6A5 102 G/S 0.369696 rs1443547
-- SLC6A5 114 P/S 0.000120613 rs746842267
-- SLC6A5 116 N/S 0.0036942 rs61736604
-- SLC6A5 124 F/S 0.771392 rs1443548
-- SLC6A5 132 A/G 0.00466572 rs34243519
-- SLC6A5 162 A/G 0.998591 rs1443549
-- SLC6A5 167 T/K 0.00463361 rs61736603
-- SLC6A5 231 I/V 0.000286316 rs192267480
-- SLC6A5 317 T/M 0.000437459 rs150764554
-- SLC6A5 336 H/P 0.00012725 rs753404579
-- SLC6A5 349 T/I 0.000123266 rs201604337
-- SLC6A5 350 A/T 0.000115313 rs759580965
-- SLC6A5 390 G/V 0.000512959 rs140296233
-- SLC6A5 410 S/L 0.000163045 rs778861669
-- SLC6A5 457 K/N 0.132561 rs3740870
-- SLC6A5 463 D/N 0.225068 rs1805091
-- SLC6A5 499 Y/F 0.00385589 rs7944684
-- SLC6A5 599 R/L 0.00014717 rs138885115
-- SLC6A5 705 Y/C 0.00238179 rs143918578
-- SLC6A5 724 C/S 0.000163026 rs142440636
-- SLC6A5 767 G/R 0.0214328 rs16906628
-- SLC6A5 769 R/H 0.000795241 rs75450512
-- SLC6A5 775 D/H 0.00015905 rs776857479
-- SLC6A5 789 K/R 0.00108153 rs543307278

Phylogenetic tree

Pathway
Priority Gene Name Reactome (Gene) Reactome (Pathway)
main SLC6A5 SLC6A5 [plasma membrane] Na+/Cl- dependent neurotransmitter transporters

Disease
Gene Name Reactome (Gene) Reactome (Pathway)
SLC6A5 SLC6A5 S510R [plasma membrane] Defective SLC6A5 causes hyperekplexia 3 (HKPX3)
SLC6A5 SLC6A5 Y377* [plasma membrane] Defective SLC6A5 causes hyperekplexia 3 (HKPX3)
SLC6A5 SLC6A5 V432F [plasma membrane] Defective SLC6A5 causes hyperekplexia 3 (HKPX3)
SLC6A5 SLC6A5 T425M [plasma membrane] Defective SLC6A5 causes hyperekplexia 3 (HKPX3)