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Basic
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Structure
Seq./Align.
Variant
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Pathway
Disease

Detail Data SLC6A19


Basic description
Gene Name SLC6A19
Protein Name Sodium-dependent neutral amino acid transporter B(0)AT1 (Solute carrier family 6 member 19) (System B(0) neutral amino acid transporter AT1)
Family SLC6
Category Transport of bile salts and organic acids, metal ions and amine compounds|Transport of inorganic cations/anions and amino acids/oligopeptides
Reaction name SLC6A19 cotransports neutral amino acids, Na+ from extracellular region to cytosol
Reaction 1 neutral amino acids [extracellular region] + 1 Na+ [extracellular region] --> 1 neutral amino acids [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 5 6 0 5 7 0 5 8 0 5 9 0 6 0 0 6 1 0 6 2 0 6 3 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 
MVRLVLPNPG LDARIPSLAE LETIEQEEAS SRPKWDNKAQ YMLTCLGFCV GLGNVWRFPY LCQSHGGGAF MIPFLILLVL EGIPLLYLEF AIGQRLRRGS LGVWSSIHPA LKGLGLASML TSFMVGLYYN TIISWIMWYL FNSFQEPLPW SDCPLNENQT GYVDECARSS PVDYFWYRET LNISTSISDS GSIQWWMLLC LACAWSVLYM CTIRGIETTG KAVYITSTLP YVVLTIFLIR GLTLKGATNG IVFLFTPNVT ELAQPDTWLD AGAQVFFSFS LAFGGLISFS SYNSVHNNCE KDSVIVSIIN GFTSVYVAIV VYSVIGFRAT QRYDDCFSTN ILTLINGFDL PEGNVTQENF VDMQQRCNAS DPAAYAQLVF QTCDINAFLS EAVEGTGLAF IVFTEAITKM PLSPLWSVLF FIMLFCLGLS SMFGNMEGVV VPLQDLRVIP PKWPKEVLTG LICLGTFLIG FIFTLNSGQY WLSLLDSYAG SIPLLIIAFC EMFSVVYVYG VDRFNKDIEF MIGHKPNIFW QVTWRVVSPL LMLIIFLFFF VVEVSQELTY SIWDPGYEEF PKSQKISYPN WVYVVVVIVA GVPSLTIPGY AIYKLIRNHC QKPGDHQGLV STLSTASMNG DLKY 
CCCCCCCCCC CCCCCCCHHH HHHHHHHHHC CCCCCCCHHH HHHHHHHHHH CCHHHHCCHH HHHCCCCCCC HHHHHHHHHH HHHHHHHHHH HHHHHHHHCC HHHHHCCCCC CCCCHHHHHH HHHHHHHHHH HHHHHHHHHH HCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCHHHHHHHH HHHHHHHHHH HHHHCCCCCC CHHHHCCCCH HHHHHHHHHH HHCCCCCCCC CHHHCCCCCC CCCCCHHHHH HHHHHHHHHH EECCHHHHHH HCCCCCCCHH CCEEEEHHHH HHHHHHHHHH HHHHHHHHHH CCCCCCCCCE EECCCCCCCC CCCCCCHHHH HHHHHHHCCC CHHHHHHHHH HHHHHHHHHH HHHHCCCCHH HHHHHHHHCC CCCHHHHHHH HHHHHHHCCC CCCCCHHHCE EHHHHCCCCC CCCCCEEEHH HHHHHHHHHH HHHHHHCCCE EEHHHHHCCC CCHHHHHHHH HHHHHHHHHC CHHHHHHHHH HHCCCCCHHH HHHHHHHHHH HHHHHHHHHH HHHHCCCCCC CCCCCCCCCC CCCCCCCCCH HHHHHHHHHH HHHHHHHHHH HHHHHHHHCC CCCCCHHHCE EECCCCCCCC CCCC
[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
SLC6A19 10 G/S 0.000148785 rs138944821
SLC6A19 14 R/Q 0.00358271 rs147458082
SLC6A19 15 I/M 0.000981171 rs138390777
SLC6A19 16 P/L 0.000210577 rs201925289
SLC6A19 33 P/T 0.000152269 rs202242697
SLC6A19 173 D/N 0.00156189 rs121434346
SLC6A19 180 T/M 0.000143441 rs141487939
SLC6A19 185 T/M 0.000625762 rs199734007
SLC6A19 228 T/M 0.00011986 rs762412163
SLC6A19 252 V/I 0.153268 rs7732589
SLC6A19 260 T/M 0.000172231 rs548464253
SLC6A19 271 A/V 0.000135854 rs374976872
SLC6A19 328 R/C 0.000151291 rs142164435
SLC6A19 328 R/H 0.000111501 rs552867213
SLC6A19 373 A/T 0.000163289 rs775834401
SLC6A19 402 V/I 0.000207138 rs148800217
SLC6A19 468 L/F 0.000136147 rs763765943
SLC6A19 530 W/C 0.000119561 rs781039193
SLC6A19 536 V/M 0.000219108 rs145250153
SLC6A19 547 L/F 0.000226965 rs149124864
-- SLC6A19 628 M/T 0.000147277 rs201467028

Phylogenetic tree

Pathway
Priority Gene Name Reactome (Gene) Reactome (Pathway)
main SLC6A19 SLC6A19 [plasma membrane] Amino acid transport across the plasma membrane
main SLC6A19 SLC6A19 [plasma membrane] Na+/Cl- dependent neurotransmitter transporters

Disease
Gene Name Reactome (Gene) Reactome (Pathway)
SLC6A19 SLC6A19 D173N [plasma membrane] Defective SLC6A19 causes Hartnup disorder (HND)
SLC6A19 SLC6A19 D173N [plasma membrane] Defective SLC6A19 causes Hartnup disorder (HND)
SLC6A19 SLC6A19 I596Hfs*73 [plasma membrane] Defective SLC6A19 causes Hartnup disorder (HND)
SLC6A19 SLC6A19 I596Hfs*73 [plasma membrane] Defective SLC6A19 causes Hartnup disorder (HND)
SLC6A19 SLC6A19 R240* [plasma membrane] Defective SLC6A19 causes Hartnup disorder (HND)
SLC6A19 SLC6A19 R240* [plasma membrane] Defective SLC6A19 causes Hartnup disorder (HND)
SLC6A19 SLC6A19 V295Afs*57 [plasma membrane] Defective SLC6A19 causes Hartnup disorder (HND)
SLC6A19 SLC6A19 V295Afs*57 [plasma membrane] Defective SLC6A19 causes Hartnup disorder (HND)
SLC6A19 SLC6A19 S303L [plasma membrane] Defective SLC6A19 causes Hartnup disorder (HND)
SLC6A19 SLC6A19 S303L [plasma membrane] Defective SLC6A19 causes Hartnup disorder (HND)