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Basic
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Seq./Align.
Variant
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Pathway
Disease

Detail Data SLC6A1


Basic description
Gene Name SLC6A1
Protein Name Sodium- and chloride-dependent GABA transporter 1 (GAT-1) (Solute carrier family 6 member 1)
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 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 
MATNGSKVAD GQISTEVSEA PVANDKPKTL VVKVQKKAAD LPDRDTWKGR FDFLMSCVGY AIGLGNVWRF PYLCGKNGGG AFLIPYFLTL IFAGVPLFLL ECSLGQYTSI GGLGVWKLAP MFKGVGLAAA VLSFWLNIYY IVIISWAIYY LYNSFTTTLP WKQCDNPWNT DRCFSNYSMV NTTNMTSAVV EFWERNMHQM TDGLDKPGQI RWPLAITLAI AWILVYFCIW KGVGWTGKVV YFSATYPYIM LIILFFRGVT LPGAKEGILF YITPNFRKLS DSEVWLDAAT QIFFSYGLGL GSLIALGSYN SFHNNVYRDS IIVCCINSCT SMFAGFVIFS IVGFMAHVTK RSIADVAASG PGLAFLAYPE AVTQLPISPL WAILFFSMLL MLGIDSQFCT VEGFITALVD EYPRLLRNRR ELFIAAVCII SYLIGLSNIT QGGIYVFKLF DYYSASGMSL LFLVFFECVS ISWFYGVNRF YDNIQEMVGS RPCIWWKLCW SFFTPIIVAG VFIFSAVQMT PLTMGNYVFP KWGQGVGWLM ALSSMVLIPG YMAYMFLTLK GSLKQRIQVM VQPSEDIVRP ENGPEQPQAG SSTSKEAYI 
CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCHHCCCC CCCCCCCCCH HHHHHHHHHH HHCCHHHHHH HHHHHCCCCC HHHHHHHHHH HHHHHHHHHH HHHHHHHHHH CCCHHHHCCC HHHCCCHHHH HHHHHHHHHH HHHHHHHHHH HHHHHCCCCC CCCCCCCCCC CCCCCCCHHC CCCCCCCCHH HHHHHHHHCC CCCCCCCCCC HHHHHHHHHH HHHHHHHHHH HCCCHHHHHH HHHCHHHHHH HHHHHHHCCC CCCCCCCCEE EECCCHHHHC CCCHHHHHHH HHHHHHHHHH HHHHHHHHCC CCCCCCHHCC EEEHHCCCHH HHHHCCEEEH HHHHHHHHCC CCHHHHHCCC CCCCEECCHH HHHCCCCHHH HHHHHHHHHH HHCHHHHHHC HHHHHHHHHC CHHHHHHCCH HHHHHHHHHH HHHHCCCCCC CCCEEEECCC CCCCCCCCHH HHHHHHHHHH HHHHHCCHHH HHCHHHHHCC CCCCCHHHHH HCCCHHHHHH HHHHHHCCCC CCCCCCCCCH HHHHHHHHHH HHHHHHHHHH HHHHHHHCCC CCHHHHHHHH CCCCCCCCCC CCCCCCCCCC CCCCCCCCC
[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
-- SLC6A1 179 M/V 0.00214714 rs34299874
-- SLC6A1 415 L/I 0.00251106 rs112095333

Phylogenetic tree

Pathway
Priority Gene Name Reactome (Gene) Reactome (Pathway)
main SLC6A1 SLC6A1 [plasma membrane] Na+/Cl- dependent neurotransmitter transporters
SLC6A1 SLC6A1 [plasma membrane] Reuptake of GABA

Disease
Gene Name Reactome (Gene) Reactome (Pathway)
No data