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Basic
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Structure
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Variant
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Pathway
Disease

Detail Data SLC5A1


Basic description
Gene Name SLC5A1
Protein Name Sodium/glucose cotransporter 1 (Na(+)/glucose cotransporter 1) (High affinity sodium-glucose cotransporter) (Solute carrier family 5 member 1)
Family SLC5
Category Cellular hexose transport
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 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 
MDSSTWSPKT TAVTRPVETH ELIRNAADIS IIVIYFVVVM AVGLWAMFST NRGTVGGFFL AGRSMVWWPI GASLFASNIG SGHFVGLAGT GAASGIAIGG FEWNALVLVV VLGWLFVPIY IKAGVVTMPE YLRKRFGGQR IQVYLSLLSL LLYIFTKISA DIFSGAIFIN LALGLNLYLA IFLLLAITAL YTITGGLAAV IYTDTLQTVI MLVGSLILTG FAFHEVGGYD AFMEKYMKAI PTIVSDGNTT FQEKCYTPRA DSFHIFRDPL TGDLPWPGFI FGMSILTLWY WCTDQVIVQR CLSAKNMSHV KGGCILCGYL KLMPMFIMVM PGMISRILYT EKIACVVPSE CEKYCGTKVG CTNIAYPTLV VELMPNGLRG LMLSVMLASL MSSLTSIFNS ASTLFTMDIY AKVRKRASEK ELMIAGRLFI LVLIGISIAW VPIVQSAQSG QLFDYIQSIT SYLGPPIAAV FLLAIFWKRV NEPGAFWGLI LGLLIGISRM ITEFAYGTGS CMEPSNCPTI ICGVHYLYFA IILFAISFIT IVVISLLTKP IPDVHLYRLC WSLRNSKEER IDLDAEEENI QEGPKETIEI ETQVPEKKKG IFRRAYDLFC GLEQHGAPKM TEEEEKAMKM KMTDTSEKPL WRTVLNVNGI ILVTVAVFCH AYFA 
CCCCCCCCCC CCCCCCCCCC CCCCCHHHHH HHHHHHHHHH HHHHHHHHCC CCCCHHHHEE CCCCCCCHHH HHHHHHHHHC CCCCCCCHHH HHHCCHHHHH HHHHHHHHHH HHHHHHHHHH HHCCCCCHHH HHHHHHCHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHHHH HHCCCHHHHH HHHHHHHHHH HHHHCCHHHH HHHHHHHHHH HHHHHHHHHH HHHHHHCCHH HHHHHHHHHC CCCCCCCCCC HHHHCCCCCC CCCCCCCCCC CCCCCHHHHH HHHHHHHHHH HCCCCHHHHH HHCCCCHHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHHCC CCCCCCCHHH HHCCCCCCCC CHHHHHHHHH HHHCCCCCHH HHHHHHHHHH HHHHHHHHHH CCCHHHHHCH HHHCCCCCHH HHHHHHHHHH HHHHHHHHHH HHHHHHCCCC CHHHHHHHHH CCCHHHHHHH HHHHHHHCCC CHHHHHHHHH HHHHHHHHHH HHHHHCCCCC CCCCCCCCHH HHHHHHHHHH HHHHHHHHHH HHHHHCCCCC CCHHHHHHEE EECCCCCCCC CCCCHHHCCC CCCCCCEECC CCCCCHHCCC CCCHHHCCCC CCCCCCCCCC CHHHHHHHHH HCCCCCCCHH HHHHHHHHHH HHHHHHHHHH HHHC
[Overview] SLC5A1 SLC5A10 SLC5A11 SLC5A12 SLC5A2 SLC5A3 SLC5A4 SLC5A5 SLC5A6 SLC5A7 SLC5A8 SLC5A9 
SLC5A1    -----------MDSSTWSPKTTAVT---RPVETHELIRNAADISIIVIYFVVVMAVGLWAMFST-NRGTVGG----FFLAGRSMVWWPIGASLFASNIGSGHFVGLAGTGAASGIAIGGFEWN-------------------------ALVLVVVLGWLFVPIYIKAGVVTMPEYLR----KRFGGQRIQVYLSLLSLLLYIFTKISADIFSGAIF------INLALGLNLYLAIFLLLAITALYTITGGLAAVIYTDTLQTVIMLVGSLILTGFAFHEVG----GYDAFMEKYMKAIPTIVS-------DGNT---TFQEKCYT-PRADSFHIFRDPLTGDLPWPGFIFGMSILTLWYWCTDQVIVQRCLSAKNMSHVKGGCILCGYLKLMPMFIM----VMPGMISRILYT----------------EKIACVVPSECEKYCGTKVGCTNIAYPTLVVEL---MPNGLRGLMLSVMLASLMSSLTSIFNSASTLFTMDIYA-KVRKRASEKELMIAGRLFILVLIGISIAWVPIVQSAQSGQLFDYIQSITSYLGPPIAAVFLLAIFWKRVNEPGAFWGLILGLLIGI-----SRMITEFA------YGTGS------------CME----------------------PS-------NCPTIIC---GVHYLYFAIILFAISFITIVVISLL--------TKPIPDVH-------------------------------------------------------LYRLCWSLRNSKEERIDLDAEEEN---------------------IQEGPKETIEIETQVPEK-----------------------------------------------KKGIFRRAYDLFCGLEQHG---APKM-----TEEEEKAMKMKMTDTSEKPLWRTVLNVNGIILVTVAVFCHAYFA-
SLC5A10   -------MAANSTSDLHTPGTQLSVA---------------DIIVITVYFALNVAVGIWSSCRA-SRNTVNG----YFLAGRDMTWWPIGASLFASSEGSGLFIGLAGSGAAGGLAVAGFEWN-------------------------ATYVLLALAWVFVPIYISSEIVTLPEYIQ----KRYGGQRIRMYLSVLSLLLSVFTKISLDLYAGALF------VHICLGWNFYLSTILTLGITALYTIAGGLAAVIYTDALQTLIMVVGAVILTIKAFDQIG----GYGQLEAAYAQAIPSRTI-------ANTT--------CHL-PRTDAMHMFRDPHTGDLPWTGMTFGLTIMATWYWCTDQVIVQRSLSARDLNHAKAGSILASYLKMLPMGLI----IMPGMISRALFPGAHVYEERHQVSVSRTDDVGCVVPSECLRACGAEVGCSNIAYPKLVMEL---MPIGLRGLMIAVMLAALMSSLTSIFNSSSTLFTMDIWR-RLRPRSGERELLLVGRLVIVALIGVSVAWIPVLQDSNSGQLFIYMQSVTSSLAPPVTAVFVLGVFWRRANEQGAFWGLIAGLVVGA-----TRLVLEFL------NPAPP------------CGE----------------------PD-------TRPAVLG---SIHYLHFAVALFALSGAVVVAGSLL--------TPPPQSVQ-------------------------------------------------------IENLTWWTL-------------------------------AQDVPLGTKAGD----GQ--------------------------------------------------------------------------TPQK----------------------HAFWARVCGFNAILLMCVNIFFYAYFA-
SLC5A11   --------MESGTSSPQPPQLDPLDAF-PQKGLE-----PGDIAVLVLYFLFVLAVGLWSTVKT-KRDTVKG----YFLAGGDMVWWPVGASLFASNVGSGHFIGLAGSGAATGISVSAYELN-------------------------GLFSVLMLAWIFLPIYIAGQVTTMPEYLR----KRFGGIRIPIILAVLYLFIYIFTKISVDMYAGAIF------IQQSLHLDLYLAIVGLLAITAVYTVAGGLAAVIYTDALQTLIMLIGALTLMGYSFAAVG----GMEGLKEKYFLALASNRS-------ENSS--------CGL-PREDAFHIFRDPLTSDLPWPGVLFGMSIPSLWYWCTDQVIVQRTLAAKNLSHAKGGALMAAYLKVLPLFIM----VFPGMVSRILFP----------------DQVACADPEICQKICSNPSGCSDIAYPKLVLEL---LPTGLRGLMMAVMVAALMSSLTSIFNSASTIFTMDLWN-HLRPRASEKELMIVGRVFVLLLVLVSILWIPVVQASQGGQLFIYIQSISSYLQPPVAVVFIMGCFWKRTNEKGAFWGLISGLLLGL-----VRLVLDFI------YVQPR------------CDQ----------------------PD-------ERPVLVK---SIHYLYFSMILSTVTLITVSTVSWF--------TEPPSKEM-------------------------------------------------------VSHLTWFTRHDPVVQ-----KEQAPPAA-----------PLSLTLSQNGMPEASSSSSVQFEMVQ------------------------ENTSKTHSCDM--------TPKQSKVVKAILWLCGIQEKG------------KEELPARAEAIIVSLEENPLVKTLLDVNLIFCVSCAIFIWGYFA-
SLC5A12   ---------ME---------------------VK--NFAVWDYVVFAALFFISSGIGVFFAIKERKKATSRE----FLVGGRQMSFGPVGLSLTASFMSAVTVLGTPSEVYRFGASFLVFFIA-------------------------YLFVILLTSELFLPVFYRSGITSTYEYLQ----LRFN--KPVRYAATVIYIVQTILYTGVVVYAPALA------LNQVTGFDLWGSVFATGIVCTFYCTLGGLKAVVWTDAFQMVVMIVGFLTVLIQGSTHAG----GFHNVLEQ-----------------STNG------------SRLHIFDFDVDPLRRHTFWT-ITVGGTFTWLGIYGVNQSTIQRCISCKTEKHAKLALY----FNLLGLWIILVCAVFSGLIMYSHFK----------------D---------CDPWTSGIISAPDQLMPYFVMEIFATMP-GLPGLFVACAFSGTLSTVASSINALATVTFEDFVK-SCFPHLSDKLSTWISKGLCLLFGVMCTS-MAVAASVM-GGVVQASLSIHGMCGGPMLGLFSLGIVFPFVNWKGALGGLLTGITLSF-----WVAIGAFI------YPAPASKTWPLPLSTDQCIK-SN-----VTATGPPVLSS-------------RPGIADTWYSISYLYYSAVGCLGCIVAGVIISLI--------T-GRQRGE-------------------------------------------DIQPLLIRP---VCNLFCFWSKK--------------------------YKTLCWCGVQH---DS-GTEQ---ENLEN------------------------------------------GSARKQGAESVL-QNGLRRESLVHVPGY--------DPKDKSYNNMAFETTHF-------------------------
SLC5A2    --------MEEHTEAGSAPEMGAQKA---------LIDNPADILVIAAYFLLVIGVGLWSMCRT-NRGTVGG----YFLAGRSMVWWPVGASLFASNIGSGHFVGLAGTGAASGLAVAGFEWN-------------------------ALFVVLLLGWLFAPVYLTAGVITMPQYLR----KRFGGRRIRLYLSVLSLFLYIFTKISVDMFSGAVF------IQQALGWNIYASVIALLGITMIYTVTGGLAALMYTDTVQTFVILGGACILMGYAFHEVG----GYSGLFDKYLGAATSLTV-------SEDPAVGNISSFCYR-PRPDSYHLLRHPVTGDLPWPALLLGLTIVSGWYWCSDQVIVQRCLAGKSLTHIKAGCILCGYLKLTPMFLM----VMPGMISRILYP----------------DEVACVVPEVCRRVCGTEVGCSNIAYPRLVVKL---MPNGLRGLMLAVMLAALMSSLASIFNSSSTLFTMDIYT-RLRPRAGDRELLLVGRLWVVFIVVVSVAWLPVVQAAQGGQLFDYIQAVSSYLAPPVSAVFVLALFVPRVNEQGAFWGLIGGLLMGL-----ARLIPEFS------FGSGS------------CVQ----------------------PS-------ACPAFLC---GVHYLYFAIVLFFCSGLLTLTVSLC--------TAPIPRKH-------------------------------------------------------LHRLVFSLRHSKEEREDLDADEQQ----------------GSSLPVQNGCPES-AMEMNEPQA----------------------------------------------PAPSLFRQCLLWFCGMSRGGVGSPPPL-----TQEEAAAAARRLEDISEDPSWARVVNLNALLMMAVAVFLWGFYA-
SLC5A3    -----------------------MRA----------VLDTADIAIVALYFILVMCIGFFAMWKS-NRSTVSG----YFLAGRSMTWVTIGASLFVSNIGSEHFIGLAGSGAASGFAVGAWEFN-------------------------ALLLLQLLGWVFIPIYIRSGVYTMPEYLS----KRFGGHRIQVYFAALSLILYIFTKLSVDLYSGALF------IQESLGWNLYVSVILLIGMTALLTVTGGLVAVIYTDTLQALLMIIGALTLMIISIMEIG----GFEEVKRRYMLASPDVTSILLTYNLSNTNS-------CNVSPKKEALKMLRNPTDEDVPWPGFILGQTPASVWYWCADQVIVQRVLAAKNIAHAKGSTLMAGFLKLLPMFII----VVPGMISRILFT----------------DDIACINPEHCMLVCGSRAGCSNIAYPRLVMKL---VPVGLRGLMMAVMIAALMSDLDSIFNSASTIFTLDVYK-LIRKSASSRELMIVGRIFVAFMVVISIAWVPIIVEMQGGQMYLYIQEVADYLTPPVAALFLLAIFWKRCNEQGAFYGGMAGFVLGA-----VRLILAFA------YRAPE------------CDQ----------------------PD-------NRPGFIK---DIHYMYVATGLFWVTGLITVIVSLL--------TPPPTKEQ-------------------------------------------------------IRTTTFWSKKNLVVKENCSPKEEPYQMQEKSILRCSENNETINHIIPNGKSED-SIKGLQPEDVNLLVTCREEGNPVASLGHSEAETPVDAYSNGQAALMGEKERKKETDDGGRYWKFIDWFCGFKSKS---LSKRSLRDLMEEEAVCLQM----LEETRQVKVILNIGLFAVCSLGIFMFVYFSL
SLC5A4    ------------MASTVSPSTIAETPEPPPLSDH--IRNAADISVIVIYFLVVMAVGLWAMLKT-NRGTIGG----FFLAGRDMAWWPMGASLFASNIGSNHYVGLAGTGAASGVATVTFEWT-------------------------SSVMLLILGWIFVPIYIKSGVMTMPEYLK----KRFGGERLQVYLSILSLFICVVLLISADIFAGAIF------IKLALGLDLYLAIFILLAMTAVYTTTGGLASVIYTDTLQTIIMLIGSFILMGFAFNEVG----GYESFTEKYVNATPSVVE-------GDNL---TISASCYT-PRADSFHIFRDAVTGDIPWPGIIFGMPITALWYWCTNQVIVQRCLCGKDMSHVKAACIMCAYLKLLPMFLM----VMPGMISRILYT----------------DMVACVVPSECVKHCGVDVGCTNYAYPTMVLEL---MPQGLRGLMLSVMLASLMSSLTSIFNSASTLFTIDLYT-KMRKQASEKELLIAGRIFVLLLTVVSIVWVPLVQVSQNGQLIHYTESISSYLGPPIAAVFVLAIFCKRVNEQGAFWGLMVGLAMGL-----IRMITEFA------YGTGS------------CLA----------------------PS-------NCPKIIC---GVHYLYFSIVLFFGSMLVTLGISLL--------TKPIPDVH-------------------------------------------------------LYRLCWVLRNSTEERIDIDAEEKS---------------------QEETDD---GVEEDYPEK-----------------------------------------------SRGCLKKAYDLFCGLQK-----GPKL-----TKEEEEALSKKLTDTSERPSWRTIVNINAILLLAVVVFIHGYYA-
SLC5A5    ---------MEAVETGERP-----------------TFGAWDYGVFALMLLVSTGIGLWVGLARGGQRSAED----FFTGGRRLAALPVGLSLSASFMSAVQVLGVPSEAYRYGLKFLWMCLG-------------------------QLLNSVLTALLFMPVFYRLGLTSTYEYLE----MRFS--RAVRLCGTLQYIVATMLYTGIVIYAPALI------LNQVTGLDIWASLLSTGIICTFYTAVGGMKAVVWTDVFQVVVMLSGFWVVLARGVMLVG----GPRQVLTL-----------------AQNH------------SRINLMDFNPDPRSRYTFWT-FVVGGTLVWLSMYGVNQAQVQRYVACRTEKQAKLALL----INQVGLFLIVSSAACCGIVMFVFYT----------------D---------CDPLLLGRISAPDQYMPLLVLDIFEDLP-GVPGLFLACAYSGTLSTASTSINAMAAVTVEDLIK-PRLRSLAPRKLVIISKGLSLIYGSACLT-VAALSSLLGGGVLQGSFTVMGVISGPLLGAFILGMFLPACNTPGVLAGLGAGLALSL-----WVALGATL------YPPSEQTMRVLPSSAARCVALSVNASGLLDPALLPANDSSRAPSS--GMDASRPALADSFYAISYLYYGALGTLTTVLCGALISCL--------TGPTKRSTLAPGLLWWDLARQTASVAPKEEVAILDDNLVKGPEELPTGNKKPPGFLPTNED-RL----FFLGQKEL----------------------EGAGSWTPC-VGH---DG-GRDQQE-TNL--------------------------------------------------------------------------------------------------------------------------
SLC5A6    ---------MSVGVSTSAPLSPTSGT---SVGMS--TFSIMDYVVFVLLLVLSLAIGLYHACRGWGRHTVGE----LLMADRKMGCLPVALSLLATFQSAVAILGVPSEIYRFGTQYWFLGCC-------------------------YFLGLLIPAHIFIPVFYRLHLTSAYEYLE----LRFN--KTVRVCGTVTFIFQMVIYMGVVLYAPSLA------LNAVTGFDLWLSVLALGIVCTVYTALGGLKAVIWTDVFQTLVMFLGQLAVIIVGSAKVG----GLGRVWAV-----------------ASQH------------GRISGFELDPDPFVRHTFWT-LAFGGVFMMLSLYGVNQAQVQRYLSSRTEKAAVLSCYAVFPFQQVSLCV----GCLIGLVMFAYYQ----------------E---------YPMSIQQAQAAPDQFVLYFVMDLLKGLP-GLPGLFIACLFSGSLSTISSAFNSLATVTMEDLIR-PWFPEFSEARAIMLSRGLAFGYGLLCLG-MAYISSQM-GPVLQAAISIFGMVGGPLLGLFCLGMFFPCANPPGAVVGLLAGLVMAF-----WIGIGSIVTSMGSSMPPSPSNGSSFSLPTNLTVA--------TVTTLMPLTTF------------SKPTGLQRFYSLSYLWYSAHNSTTVIVVGLIVSLL--------T-GRMRGR----------SLNPATIYPV----------------LPK----------------LLSLLPLSCQKRLH--------------------CRSYGQ------DH--LDT-GLFPEKPRNGVL------------------------------------------GDSRDKEAMAL---DGTAYQG--------------------SSSTCILQETSL-------------------------
SLC5A7    -----------------------------------MAFHVEGLIAIIVFYLLILLVGIWAAWRTKNSGSAEERSEAIIVGGRDIGLLVGGFTMTATWVGGGYINGTAEAVYVPGYGLAWAQAP-------------------IG----YSLSLILGGLFFAKPMRSKGYVTMLDPFQQIYGKRMGG------------LLFIPALMGEMFWAAAIFSALGATISVIIDVDMHISVIISALIATLYTLVGGLYSVAYTDVVQLFCIFVGLWISVPFALSHPAVADIGFTAVHAKYQKPWLGTVD-------SSEVY-----------SWLDSFLLL---MLGGIPW------------------QAYFQRVLSSSSATYAQVLSF----LAAFGCLVMAIPAILIGAIGASTDW----------------NQTAYGLPD------PKTTEEADMILPIVLQYL---CPVYISFFGLGAVSAAVMSSADSSILSASSMFARNIYQLSFRQNASDKEIVWVMRITVFVFGASATA-MALLTKTVYGLWYLSSDLVYIVIFPQLLCV----LFVKGTNTYGAVAGYVSGLFLRITGGEPYLYLQPLIF-----YPGYY-------------------------------------PDDNGIYNQKFP-------------FKTLAMVTSFLTNICISYLAKYLFESGTLPPKLDV-------FD-----AVVARHSE-----ENM-------------DKTILVKNENIKLDELALVKPRQSMTLSSTFTNKEA-------------FLDVDSSPEGSGTEDN------------------------------------------------------------------------------------------------------LQ-----------------------------
SLC5A8    ---------MDT------PR-----------GIG--TFVVWDYVVFAGMLVISAAIGIYYAFAGGGQQTSKD----FLMGGRRMTAVPVALSLTASFMSAVTVLGTPSEVYRFGAIFSIFAFT-------------------------YFFVVVISAEVFLPVFYKLGITSTYEYLE----LRFN--KCVRLCGTVLFIVQTILYTGIVIYAPALA------LNQVTGFDLWGAVVATGVVCTFYCTLGGLKAVIWTDVFQVGIMVAGFASVIIQAVVMQG----GISTILND-----------------AYDG------------GRLNFWNFNPNPLQRHTFWT-IIIGGTFTWTSIYGVNQSQVQRYISCKSRFQAKLSLY----INLVGLWAILTCSVFCGLALYSRYH----------------D---------CDPWTAKKVSAPDQLMPYLVLDILQDYP-GLPGLFVACAYSGTLSTVSSSINALAAVTVEDLIK-PYFRSLSERSLSWISQGMSVVYGALCIG-MAALASLM-GALLQAALSVFGMVGGPLMGLFALGILVPFANSIGALVGLMAGFAISL-----WVGIGAQI------YPPLPERTLPLHLDIQGCNS-TYNETNLMTTTEMPFTTSVFQI-----YNVQRTPLMDNWYSLSYLYFSTVGTLVTLLVGILVSLS--------TGGRKQNL-------------------------------------------DPRYILTKED-FLSNFDIFKKKKHV----------------------LSYKS-------HPVEDG-GTDNPAFNHIEL------------------------------------------NS--DQSGKS----NGTRL-----------------------------------------------------------
SLC5A9    MSKELAAMGPGASGDGVRTETAPHIALDSRVGLH-----AYDISVVVIYFVFVIAVGIWSSIRA-SRGTIGG----YFLAGRSMSWWPIGASLMSSNVGSGLFIGLAGTGAAGGLAVGGFEWNMRKSRSGGDRGIHPRSHGRTGVRSQATWLLLALGWVFVPVYIAAGVVTMPQYLK----KRFGGQRIQVYMSVLSLILYIFTKISTDIFSGALF------IQMALGWNLYLSTGILLVVTAVYTIAGGLMAVIYTDALQTVIMVGGALVLMFLGFQDVG----WYPGLEQRYRQAIPNVTV-------PNTT--------CHL-PRPDAFHILRDPVSGDIPWPGLIFGLTVLATWCWCTDQVIVQRSLSAKSLSHAKGGSVLGGYLKILPMFFI----VMPGMISRALFP----------------DEVGCVDPDVCQRICGARVGCSNIAYPKLVMAL---MPVGLRGLMIAVIMAALMSSLTSIFNSSSTLFTIDVWQ-RFRRKSTEQELMVVGRVFVVFLVVISILWIPIIQSSNSGQLFDYIQAVTSYLAPPITALFLLAIFCKRVTEPGAFWGLVFGLGVGL-----LRMILEFS------YPAPA------------CGE----------------------VD-------RRPAVLK---DFHYLYFAILLCGLTAIVIVIVSLC--------TTPIPEEQ-------------------------------------------------------LTRLTWWTRNCPLSELEKEAHESTPEISE---------RPAGECPAGGGAAENSSLGQEQPEA----------------------------------------------PSRSWGKLLWSWFCGLSG-----TPEQA---LSPAEKAALEQKLTSIEEEPLWRHVCNINAVLLLAINIFLWGYFA-

Variant
check gene name residue number Reference Amino Acid / Variant Amino Acid minor allele frequency rs number
-- SLC5A1 12 A/V 0.00113262 rs150288967
-- SLC5A1 17 V/A 0.0024166 rs33951240
SLC5A1 24 R/C 0.00010793 rs201800716
SLC5A1 33 V/I 0.000219389 rs33918436
SLC5A1 34 I/T 0.000187499 rs139760182
-- SLC5A1 51 N/S 0.0480392 rs17683011
SLC5A1 209 V/L 0.00202059 rs150117594
SLC5A1 288 L/V 0.000381959 rs139037092
SLC5A1 356 G/S 0.000294258 rs141412905
SLC5A1 411 A/T 0.0485685 rs17683430
SLC5A1 519 T/M 0.000135203 rs33975915
-- SLC5A1 588 I/T 0.000159204 rs201862174
-- SLC5A1 595 P/T 0.000202966 rs147453689
-- SLC5A1 615 H/Q 0.0484829 rs33954001
-- SLC5A1 616 G/S 0.0014199 rs61733910

Phylogenetic tree

Pathway
Priority Gene Name Reactome (Gene) Reactome (Pathway)
main SLC5A1 SLC5A1 [plasma membrane] Cellular hexose transport
SLC5A1 SLC5A1 [plasma membrane] Intestinal hexose absorption

Disease
Gene Name Reactome (Gene) Reactome (Pathway)
SLC5A1 SLC5A1 Q457R [plasma membrane] Defective SLC5A1 causes congenital glucose/galactose malabsorption (GGM)
SLC5A1 SLC5A1 D28N [plasma membrane] Defective SLC5A1 causes congenital glucose/galactose malabsorption (GGM)
SLC5A1 SLC5A1 D28G [plasma membrane] Defective SLC5A1 causes congenital glucose/galactose malabsorption (GGM)
SLC5A1 SLC5A1 R379* [plasma membrane] Defective SLC5A1 causes congenital glucose/galactose malabsorption (GGM)
SLC5A1 SLC5A1 Y191* [plasma membrane] Defective SLC5A1 causes congenital glucose/galactose malabsorption (GGM)
SLC5A1 SLC5A1 G100V [plasma membrane] Defective SLC5A1 causes congenital glucose/galactose malabsorption (GGM)
SLC5A1 SLC5A1 R135W [plasma membrane] Defective SLC5A1 causes congenital glucose/galactose malabsorption (GGM)