sujigwak/NVAR huggingface dataset:
UniProt ID: P42286
Variant: S -> T at position 392-392
Variant annotation: in strain: Berkeley and Oregon-R
Protein function: Required specifically for chromosome disjunction during all mitoses; maternally provided protein is sufficient until mitosis 14 then zygotic protein is required. Involved in formation and/or maintenance of epithelial structures: bud extension during Malpighian tubule development, and foregut and hindgut morphogenesis.
Reference sequence:
MSTDIATQLKGSRSDVEKVRKTVEAKFRELSGDGLPLRYEVNVLRHICLALKDNLHQNSDLYCDIMGIMLPRVVPCEEKPSLWEAHLSSLRYIHHGLFHQRSIEACQKLYNLIRQQPCRLQEESDYKIYLDIHLTHFNGFHVLLQKQKLPLEATSQLCYALESLGDLFAAMTQRQISLCATLLVQLNESLFGKRSRSFFKSLSFLPSESLAKMFNALLMLLASSTSSNLANLFPECLSLTLALVQIDMFSPQSNQQMSLQLLRMSKELFRQESNLCYALQLMYYYIKLIFVREPTGDFKRTYIDLSSKFQHFFEHKVASHAKEQWLADFLVAIQLLQVLIHQSNSKLQSPFQIFWQQFDGESSPEIYTAHFQLLQTCASLAVNITRSPLGCSCSHEACKSVRRHCILAYGLCALDAYINWKPAAEQRANVSPHKPLLGVVKYSMDVAKTMKCLGPTSVEIIKLVRQLTYVADQVTCPEQMSVLLPLLEPLQKLRPLVADQDMSSLLRRLFKASSHCGDSNIACRIQASYLASITNPARLRSQVCLYYHNLGKKGTEIKRCVYEWHESTPLPFPLTPDQKKQLYDTDFFALLHYLRSPSTAHMESLIRCRTSDYHLVLLARQMRKDDSISKKCIEVHDKLRQQRSLSRMDNLCLGHASVGLLLDALEAQKTKVSTKEITENMFEELLLSKNLWQMNIQREQRLVNYASEAISAFSNFFDRADQEPLSANETSIDWEALIDDAIATANALSSMGYQSEEDDAWLLLLRMGRLLEDRFTYLRALNHFLSQNEVSSRLNLKLGEEVEVAEELLDDLWPQLKNGKFFKRQQTTVMLCFCHLASYYARMECYSHAQLLLLHVEQLREEFPERQGKSDIVLLTLQTVRFRIGYQQRKPTNCRLPTPLRQLDILLDNVRSFCNLSSLDGGSLQLLLSTLVRESTECSANRLSERLSFSNIALHLVLQSGLALRAIEVFLAWLWTNLQMESFDKAQSKLRLIEHCLGIKQLNPTSRPEKEAIKDVAISDLASNMHLLQLVEPIRKQQLLNMASPNLLKMRPHSPNPQLDLDRYITLDVAPANLRENSQLQCLYFVTGCLHARLRFLQRNSEQLEEFYGRAHNWMQEKPPMSSALYPMLHAQQLYHLNYLRFARKHVEAISTAQLGLKMRSRAVDINFEYNFLAQLKTAQLELKPVGQDKPQVKILRRALVFNHSPEDKKRTATGSVSAVKNTASKVKQSAKKAPRFRIYEELELRPPSATSCSSSGGSGTENTPPSDHVDLNACQAIEISDDDDSPLVSTKKTQPKSREKAKPKATSKACKVLTLDNSLEIVETPTITTSTRSTRARLRQPVETPKTATLSSKRTRRQVLEAQAPETESISTRTRHRH
UniProt ID: P42286
Variant: R -> K at position 427-427
Variant annotation: in strain: Berkeley and Oregon-R
Protein function: Required specifically for chromosome disjunction during all mitoses; maternally provided protein is sufficient until mitosis 14 then zygotic protein is required. Involved in formation and/or maintenance of epithelial structures: bud extension during Malpighian tubule development, and foregut and hindgut morphogenesis.
Reference sequence:
MSTDIATQLKGSRSDVEKVRKTVEAKFRELSGDGLPLRYEVNVLRHICLALKDNLHQNSDLYCDIMGIMLPRVVPCEEKPSLWEAHLSSLRYIHHGLFHQRSIEACQKLYNLIRQQPCRLQEESDYKIYLDIHLTHFNGFHVLLQKQKLPLEATSQLCYALESLGDLFAAMTQRQISLCATLLVQLNESLFGKRSRSFFKSLSFLPSESLAKMFNALLMLLASSTSSNLANLFPECLSLTLALVQIDMFSPQSNQQMSLQLLRMSKELFRQESNLCYALQLMYYYIKLIFVREPTGDFKRTYIDLSSKFQHFFEHKVASHAKEQWLADFLVAIQLLQVLIHQSNSKLQSPFQIFWQQFDGESSPEIYTAHFQLLQTCASLAVNITRSPLGCSCSHEACKSVRRHCILAYGLCALDAYINWKPAAEQRANVSPHKPLLGVVKYSMDVAKTMKCLGPTSVEIIKLVRQLTYVADQVTCPEQMSVLLPLLEPLQKLRPLVADQDMSSLLRRLFKASSHCGDSNIACRIQASYLASITNPARLRSQVCLYYHNLGKKGTEIKRCVYEWHESTPLPFPLTPDQKKQLYDTDFFALLHYLRSPSTAHMESLIRCRTSDYHLVLLARQMRKDDSISKKCIEVHDKLRQQRSLSRMDNLCLGHASVGLLLDALEAQKTKVSTKEITENMFEELLLSKNLWQMNIQREQRLVNYASEAISAFSNFFDRADQEPLSANETSIDWEALIDDAIATANALSSMGYQSEEDDAWLLLLRMGRLLEDRFTYLRALNHFLSQNEVSSRLNLKLGEEVEVAEELLDDLWPQLKNGKFFKRQQTTVMLCFCHLASYYARMECYSHAQLLLLHVEQLREEFPERQGKSDIVLLTLQTVRFRIGYQQRKPTNCRLPTPLRQLDILLDNVRSFCNLSSLDGGSLQLLLSTLVRESTECSANRLSERLSFSNIALHLVLQSGLALRAIEVFLAWLWTNLQMESFDKAQSKLRLIEHCLGIKQLNPTSRPEKEAIKDVAISDLASNMHLLQLVEPIRKQQLLNMASPNLLKMRPHSPNPQLDLDRYITLDVAPANLRENSQLQCLYFVTGCLHARLRFLQRNSEQLEEFYGRAHNWMQEKPPMSSALYPMLHAQQLYHLNYLRFARKHVEAISTAQLGLKMRSRAVDINFEYNFLAQLKTAQLELKPVGQDKPQVKILRRALVFNHSPEDKKRTATGSVSAVKNTASKVKQSAKKAPRFRIYEELELRPPSATSCSSSGGSGTENTPPSDHVDLNACQAIEISDDDDSPLVSTKKTQPKSREKAKPKATSKACKVLTLDNSLEIVETPTITTSTRSTRARLRQPVETPKTATLSSKRTRRQVLEAQAPETESISTRTRHRH
UniProt ID: P42286
Variant: A -> T at position 428-428
Variant annotation: in strain: Berkeley and Oregon-R
Protein function: Required specifically for chromosome disjunction during all mitoses; maternally provided protein is sufficient until mitosis 14 then zygotic protein is required. Involved in formation and/or maintenance of epithelial structures: bud extension during Malpighian tubule development, and foregut and hindgut morphogenesis.
Reference sequence:
MSTDIATQLKGSRSDVEKVRKTVEAKFRELSGDGLPLRYEVNVLRHICLALKDNLHQNSDLYCDIMGIMLPRVVPCEEKPSLWEAHLSSLRYIHHGLFHQRSIEACQKLYNLIRQQPCRLQEESDYKIYLDIHLTHFNGFHVLLQKQKLPLEATSQLCYALESLGDLFAAMTQRQISLCATLLVQLNESLFGKRSRSFFKSLSFLPSESLAKMFNALLMLLASSTSSNLANLFPECLSLTLALVQIDMFSPQSNQQMSLQLLRMSKELFRQESNLCYALQLMYYYIKLIFVREPTGDFKRTYIDLSSKFQHFFEHKVASHAKEQWLADFLVAIQLLQVLIHQSNSKLQSPFQIFWQQFDGESSPEIYTAHFQLLQTCASLAVNITRSPLGCSCSHEACKSVRRHCILAYGLCALDAYINWKPAAEQRANVSPHKPLLGVVKYSMDVAKTMKCLGPTSVEIIKLVRQLTYVADQVTCPEQMSVLLPLLEPLQKLRPLVADQDMSSLLRRLFKASSHCGDSNIACRIQASYLASITNPARLRSQVCLYYHNLGKKGTEIKRCVYEWHESTPLPFPLTPDQKKQLYDTDFFALLHYLRSPSTAHMESLIRCRTSDYHLVLLARQMRKDDSISKKCIEVHDKLRQQRSLSRMDNLCLGHASVGLLLDALEAQKTKVSTKEITENMFEELLLSKNLWQMNIQREQRLVNYASEAISAFSNFFDRADQEPLSANETSIDWEALIDDAIATANALSSMGYQSEEDDAWLLLLRMGRLLEDRFTYLRALNHFLSQNEVSSRLNLKLGEEVEVAEELLDDLWPQLKNGKFFKRQQTTVMLCFCHLASYYARMECYSHAQLLLLHVEQLREEFPERQGKSDIVLLTLQTVRFRIGYQQRKPTNCRLPTPLRQLDILLDNVRSFCNLSSLDGGSLQLLLSTLVRESTECSANRLSERLSFSNIALHLVLQSGLALRAIEVFLAWLWTNLQMESFDKAQSKLRLIEHCLGIKQLNPTSRPEKEAIKDVAISDLASNMHLLQLVEPIRKQQLLNMASPNLLKMRPHSPNPQLDLDRYITLDVAPANLRENSQLQCLYFVTGCLHARLRFLQRNSEQLEEFYGRAHNWMQEKPPMSSALYPMLHAQQLYHLNYLRFARKHVEAISTAQLGLKMRSRAVDINFEYNFLAQLKTAQLELKPVGQDKPQVKILRRALVFNHSPEDKKRTATGSVSAVKNTASKVKQSAKKAPRFRIYEELELRPPSATSCSSSGGSGTENTPPSDHVDLNACQAIEISDDDDSPLVSTKKTQPKSREKAKPKATSKACKVLTLDNSLEIVETPTITTSTRSTRARLRQPVETPKTATLSSKRTRRQVLEAQAPETESISTRTRHRH
UniProt ID: P42286
Variant: L -> P at position 927-927
Variant annotation: in strain: Canton-S
Protein function: Required specifically for chromosome disjunction during all mitoses; maternally provided protein is sufficient until mitosis 14 then zygotic protein is required. Involved in formation and/or maintenance of epithelial structures: bud extension during Malpighian tubule development, and foregut and hindgut morphogenesis.
Reference sequence:
MSTDIATQLKGSRSDVEKVRKTVEAKFRELSGDGLPLRYEVNVLRHICLALKDNLHQNSDLYCDIMGIMLPRVVPCEEKPSLWEAHLSSLRYIHHGLFHQRSIEACQKLYNLIRQQPCRLQEESDYKIYLDIHLTHFNGFHVLLQKQKLPLEATSQLCYALESLGDLFAAMTQRQISLCATLLVQLNESLFGKRSRSFFKSLSFLPSESLAKMFNALLMLLASSTSSNLANLFPECLSLTLALVQIDMFSPQSNQQMSLQLLRMSKELFRQESNLCYALQLMYYYIKLIFVREPTGDFKRTYIDLSSKFQHFFEHKVASHAKEQWLADFLVAIQLLQVLIHQSNSKLQSPFQIFWQQFDGESSPEIYTAHFQLLQTCASLAVNITRSPLGCSCSHEACKSVRRHCILAYGLCALDAYINWKPAAEQRANVSPHKPLLGVVKYSMDVAKTMKCLGPTSVEIIKLVRQLTYVADQVTCPEQMSVLLPLLEPLQKLRPLVADQDMSSLLRRLFKASSHCGDSNIACRIQASYLASITNPARLRSQVCLYYHNLGKKGTEIKRCVYEWHESTPLPFPLTPDQKKQLYDTDFFALLHYLRSPSTAHMESLIRCRTSDYHLVLLARQMRKDDSISKKCIEVHDKLRQQRSLSRMDNLCLGHASVGLLLDALEAQKTKVSTKEITENMFEELLLSKNLWQMNIQREQRLVNYASEAISAFSNFFDRADQEPLSANETSIDWEALIDDAIATANALSSMGYQSEEDDAWLLLLRMGRLLEDRFTYLRALNHFLSQNEVSSRLNLKLGEEVEVAEELLDDLWPQLKNGKFFKRQQTTVMLCFCHLASYYARMECYSHAQLLLLHVEQLREEFPERQGKSDIVLLTLQTVRFRIGYQQRKPTNCRLPTPLRQLDILLDNVRSFCNLSSLDGGSLQLLLSTLVRESTECSANRLSERLSFSNIALHLVLQSGLALRAIEVFLAWLWTNLQMESFDKAQSKLRLIEHCLGIKQLNPTSRPEKEAIKDVAISDLASNMHLLQLVEPIRKQQLLNMASPNLLKMRPHSPNPQLDLDRYITLDVAPANLRENSQLQCLYFVTGCLHARLRFLQRNSEQLEEFYGRAHNWMQEKPPMSSALYPMLHAQQLYHLNYLRFARKHVEAISTAQLGLKMRSRAVDINFEYNFLAQLKTAQLELKPVGQDKPQVKILRRALVFNHSPEDKKRTATGSVSAVKNTASKVKQSAKKAPRFRIYEELELRPPSATSCSSSGGSGTENTPPSDHVDLNACQAIEISDDDDSPLVSTKKTQPKSREKAKPKATSKACKVLTLDNSLEIVETPTITTSTRSTRARLRQPVETPKTATLSSKRTRRQVLEAQAPETESISTRTRHRH
UniProt ID: P42330
Variant: H -> Q at position 5-5
Variant annotation: in dbSNP:rs12529
Protein function: Cytosolic aldo-keto reductase that catalyzes the NADH and NADPH-dependent reduction of ketosteroids to hydroxysteroids. Acts as a NAD(P)(H)-dependent 3-, 17- and 20-ketosteroid reductase on the steroid nucleus and side chain and regulates the metabolism of androgens, estrogens and progesterone . Displays the ability to catalyze both oxidation and reduction in vitro, but most probably acts as a reductase in vivo since the oxidase activity measured in vitro is inhibited by physiological concentration of NADPH . Acts preferentially as a 17-ketosteroid reductase and has the highest catalytic efficiency of the AKR1C enzyme for the reduction of delta4-androstenedione to form testosterone . Reduces prostaglandin (PG) D2 to 11beta-prostaglandin F2, progesterone to 20alpha-hydroxyprogesterone and estrone to 17beta-estradiol . Catalyzes the transformation of the potent androgen dihydrotestosterone (DHT) into the less active form, 5-alpha-androstan-3-alpha,17-beta-diol (3-alpha-diol) . Also displays retinaldehyde reductase activity toward 9-cis-retinal .
Reference sequence:
MDSKHQCVKLNDGHFMPVLGFGTYAPPEVPRSKALEVTKLAIEAGFRHIDSAHLYNNEEQVGLAIRSKIADGSVKREDIFYTSKLWSTFHRPELVRPALENSLKKAQLDYVDLYLIHSPMSLKPGEELSPTDENGKVIFDIVDLCTTWEAMEKCKDAGLAKSIGVSNFNRRQLEMILNKPGLKYKPVCNQVECHPYFNRSKLLDFCKSKDIVLVAYSALGSQRDKRWVDPNSPVLLEDPVLCALAKKHKRTPALIALRYQLQRGVVVLAKSYNEQRIRQNVQVFEFQLTAEDMKAIDGLDRNLHYFNSDSFASHPNYPYSDEY
UniProt ID: P42330
Variant: R -> Q at position 66-66
Variant annotation: in dbSNP:rs35961894
Protein function: Cytosolic aldo-keto reductase that catalyzes the NADH and NADPH-dependent reduction of ketosteroids to hydroxysteroids. Acts as a NAD(P)(H)-dependent 3-, 17- and 20-ketosteroid reductase on the steroid nucleus and side chain and regulates the metabolism of androgens, estrogens and progesterone . Displays the ability to catalyze both oxidation and reduction in vitro, but most probably acts as a reductase in vivo since the oxidase activity measured in vitro is inhibited by physiological concentration of NADPH . Acts preferentially as a 17-ketosteroid reductase and has the highest catalytic efficiency of the AKR1C enzyme for the reduction of delta4-androstenedione to form testosterone . Reduces prostaglandin (PG) D2 to 11beta-prostaglandin F2, progesterone to 20alpha-hydroxyprogesterone and estrone to 17beta-estradiol . Catalyzes the transformation of the potent androgen dihydrotestosterone (DHT) into the less active form, 5-alpha-androstan-3-alpha,17-beta-diol (3-alpha-diol) . Also displays retinaldehyde reductase activity toward 9-cis-retinal .
Reference sequence:
MDSKHQCVKLNDGHFMPVLGFGTYAPPEVPRSKALEVTKLAIEAGFRHIDSAHLYNNEEQVGLAIRSKIADGSVKREDIFYTSKLWSTFHRPELVRPALENSLKKAQLDYVDLYLIHSPMSLKPGEELSPTDENGKVIFDIVDLCTTWEAMEKCKDAGLAKSIGVSNFNRRQLEMILNKPGLKYKPVCNQVECHPYFNRSKLLDFCKSKDIVLVAYSALGSQRDKRWVDPNSPVLLEDPVLCALAKKHKRTPALIALRYQLQRGVVVLAKSYNEQRIRQNVQVFEFQLTAEDMKAIDGLDRNLHYFNSDSFASHPNYPYSDEY
UniProt ID: P42330
Variant: E -> G at position 77-77
Variant annotation: in dbSNP:rs11551177
Protein function: Cytosolic aldo-keto reductase that catalyzes the NADH and NADPH-dependent reduction of ketosteroids to hydroxysteroids. Acts as a NAD(P)(H)-dependent 3-, 17- and 20-ketosteroid reductase on the steroid nucleus and side chain and regulates the metabolism of androgens, estrogens and progesterone . Displays the ability to catalyze both oxidation and reduction in vitro, but most probably acts as a reductase in vivo since the oxidase activity measured in vitro is inhibited by physiological concentration of NADPH . Acts preferentially as a 17-ketosteroid reductase and has the highest catalytic efficiency of the AKR1C enzyme for the reduction of delta4-androstenedione to form testosterone . Reduces prostaglandin (PG) D2 to 11beta-prostaglandin F2, progesterone to 20alpha-hydroxyprogesterone and estrone to 17beta-estradiol . Catalyzes the transformation of the potent androgen dihydrotestosterone (DHT) into the less active form, 5-alpha-androstan-3-alpha,17-beta-diol (3-alpha-diol) . Also displays retinaldehyde reductase activity toward 9-cis-retinal .
Reference sequence:
MDSKHQCVKLNDGHFMPVLGFGTYAPPEVPRSKALEVTKLAIEAGFRHIDSAHLYNNEEQVGLAIRSKIADGSVKREDIFYTSKLWSTFHRPELVRPALENSLKKAQLDYVDLYLIHSPMSLKPGEELSPTDENGKVIFDIVDLCTTWEAMEKCKDAGLAKSIGVSNFNRRQLEMILNKPGLKYKPVCNQVECHPYFNRSKLLDFCKSKDIVLVAYSALGSQRDKRWVDPNSPVLLEDPVLCALAKKHKRTPALIALRYQLQRGVVVLAKSYNEQRIRQNVQVFEFQLTAEDMKAIDGLDRNLHYFNSDSFASHPNYPYSDEY
UniProt ID: P42330
Variant: R -> C at position 170-170
Variant annotation: in dbSNP:rs35575889
Protein function: Cytosolic aldo-keto reductase that catalyzes the NADH and NADPH-dependent reduction of ketosteroids to hydroxysteroids. Acts as a NAD(P)(H)-dependent 3-, 17- and 20-ketosteroid reductase on the steroid nucleus and side chain and regulates the metabolism of androgens, estrogens and progesterone . Displays the ability to catalyze both oxidation and reduction in vitro, but most probably acts as a reductase in vivo since the oxidase activity measured in vitro is inhibited by physiological concentration of NADPH . Acts preferentially as a 17-ketosteroid reductase and has the highest catalytic efficiency of the AKR1C enzyme for the reduction of delta4-androstenedione to form testosterone . Reduces prostaglandin (PG) D2 to 11beta-prostaglandin F2, progesterone to 20alpha-hydroxyprogesterone and estrone to 17beta-estradiol . Catalyzes the transformation of the potent androgen dihydrotestosterone (DHT) into the less active form, 5-alpha-androstan-3-alpha,17-beta-diol (3-alpha-diol) . Also displays retinaldehyde reductase activity toward 9-cis-retinal .
Reference sequence:
MDSKHQCVKLNDGHFMPVLGFGTYAPPEVPRSKALEVTKLAIEAGFRHIDSAHLYNNEEQVGLAIRSKIADGSVKREDIFYTSKLWSTFHRPELVRPALENSLKKAQLDYVDLYLIHSPMSLKPGEELSPTDENGKVIFDIVDLCTTWEAMEKCKDAGLAKSIGVSNFNRRQLEMILNKPGLKYKPVCNQVECHPYFNRSKLLDFCKSKDIVLVAYSALGSQRDKRWVDPNSPVLLEDPVLCALAKKHKRTPALIALRYQLQRGVVVLAKSYNEQRIRQNVQVFEFQLTAEDMKAIDGLDRNLHYFNSDSFASHPNYPYSDEY
UniProt ID: P42330
Variant: M -> I at position 175-175
Variant annotation: no effect on 17beta-HSD activity; dbSNP:rs1131132
Protein function: Cytosolic aldo-keto reductase that catalyzes the NADH and NADPH-dependent reduction of ketosteroids to hydroxysteroids. Acts as a NAD(P)(H)-dependent 3-, 17- and 20-ketosteroid reductase on the steroid nucleus and side chain and regulates the metabolism of androgens, estrogens and progesterone . Displays the ability to catalyze both oxidation and reduction in vitro, but most probably acts as a reductase in vivo since the oxidase activity measured in vitro is inhibited by physiological concentration of NADPH . Acts preferentially as a 17-ketosteroid reductase and has the highest catalytic efficiency of the AKR1C enzyme for the reduction of delta4-androstenedione to form testosterone . Reduces prostaglandin (PG) D2 to 11beta-prostaglandin F2, progesterone to 20alpha-hydroxyprogesterone and estrone to 17beta-estradiol . Catalyzes the transformation of the potent androgen dihydrotestosterone (DHT) into the less active form, 5-alpha-androstan-3-alpha,17-beta-diol (3-alpha-diol) . Also displays retinaldehyde reductase activity toward 9-cis-retinal .
Reference sequence:
MDSKHQCVKLNDGHFMPVLGFGTYAPPEVPRSKALEVTKLAIEAGFRHIDSAHLYNNEEQVGLAIRSKIADGSVKREDIFYTSKLWSTFHRPELVRPALENSLKKAQLDYVDLYLIHSPMSLKPGEELSPTDENGKVIFDIVDLCTTWEAMEKCKDAGLAKSIGVSNFNRRQLEMILNKPGLKYKPVCNQVECHPYFNRSKLLDFCKSKDIVLVAYSALGSQRDKRWVDPNSPVLLEDPVLCALAKKHKRTPALIALRYQLQRGVVVLAKSYNEQRIRQNVQVFEFQLTAEDMKAIDGLDRNLHYFNSDSFASHPNYPYSDEY
UniProt ID: P42330
Variant: P -> S at position 180-180
Variant annotation: in dbSNP:rs34186955
Protein function: Cytosolic aldo-keto reductase that catalyzes the NADH and NADPH-dependent reduction of ketosteroids to hydroxysteroids. Acts as a NAD(P)(H)-dependent 3-, 17- and 20-ketosteroid reductase on the steroid nucleus and side chain and regulates the metabolism of androgens, estrogens and progesterone . Displays the ability to catalyze both oxidation and reduction in vitro, but most probably acts as a reductase in vivo since the oxidase activity measured in vitro is inhibited by physiological concentration of NADPH . Acts preferentially as a 17-ketosteroid reductase and has the highest catalytic efficiency of the AKR1C enzyme for the reduction of delta4-androstenedione to form testosterone . Reduces prostaglandin (PG) D2 to 11beta-prostaglandin F2, progesterone to 20alpha-hydroxyprogesterone and estrone to 17beta-estradiol . Catalyzes the transformation of the potent androgen dihydrotestosterone (DHT) into the less active form, 5-alpha-androstan-3-alpha,17-beta-diol (3-alpha-diol) . Also displays retinaldehyde reductase activity toward 9-cis-retinal .
Reference sequence:
MDSKHQCVKLNDGHFMPVLGFGTYAPPEVPRSKALEVTKLAIEAGFRHIDSAHLYNNEEQVGLAIRSKIADGSVKREDIFYTSKLWSTFHRPELVRPALENSLKKAQLDYVDLYLIHSPMSLKPGEELSPTDENGKVIFDIVDLCTTWEAMEKCKDAGLAKSIGVSNFNRRQLEMILNKPGLKYKPVCNQVECHPYFNRSKLLDFCKSKDIVLVAYSALGSQRDKRWVDPNSPVLLEDPVLCALAKKHKRTPALIALRYQLQRGVVVLAKSYNEQRIRQNVQVFEFQLTAEDMKAIDGLDRNLHYFNSDSFASHPNYPYSDEY
UniProt ID: P42331
Variant: R -> W at position 192-192
Variant annotation: in dbSNP:rs3749130
Protein function: GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state.
Reference sequence:
MSLKLPRNWDFNLKVEAAKIARSRSVMTGEQMAAFHPSSTPNPLERPIKMGWLKKQRSIVKNWQQRYFVLRAQQLYYYKDEEDTKPQGCMYLPGCTIKEIATNPEEAGKFVFEIIPASWDQNRMGQDSYVLMASSQAEMEEWVKFLRRVAGTPCGVFGQRLDETVAYEQKFGPHLVPILVEKCAEFILEHGRNEEGIFRLPGQDNLVKQLRDAFDAGERPSFDRDTDVHTVASLLKLYLRDLPEPVVPWSQYEGFLLCGQLTNADEAKAQQELMKQLSILPRDNYSLLSYICRFLHEIQLNCAVNKMSVDNLATVIGVNLIRSKVEDPAVIMRGTPQIQRVMTMMIRDHEVLFPKSKDIPLSPPAQKNDPKKAPVARSSVGWDATEDLRISRTDSFSSMTSDSDTTSPTGQQPSDAFPEDSSKVPREKPGDWKMQSRKRTQTLPNRKCFLTSAFQGANSSKMEIFKNEFWSPSSEAKAGEGHRRTMSQDLRQLSDSQRTSTYDNVPSLPGSPGEEASALSSQACDSKGDTLASPNSETGPGKKNSGEEEIDSLQRMVQELRKEIETQKQMYEEQIKNLEKENYDVWAKVVRLNEELEKEKKKSAALEISLRNMERSREDVEKRNKALEEEVKEFVKSMKEPKTEA
UniProt ID: P42331
Variant: R -> S at position 555-555
Variant annotation: in dbSNP:rs4241344
Protein function: GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state.
Reference sequence:
MSLKLPRNWDFNLKVEAAKIARSRSVMTGEQMAAFHPSSTPNPLERPIKMGWLKKQRSIVKNWQQRYFVLRAQQLYYYKDEEDTKPQGCMYLPGCTIKEIATNPEEAGKFVFEIIPASWDQNRMGQDSYVLMASSQAEMEEWVKFLRRVAGTPCGVFGQRLDETVAYEQKFGPHLVPILVEKCAEFILEHGRNEEGIFRLPGQDNLVKQLRDAFDAGERPSFDRDTDVHTVASLLKLYLRDLPEPVVPWSQYEGFLLCGQLTNADEAKAQQELMKQLSILPRDNYSLLSYICRFLHEIQLNCAVNKMSVDNLATVIGVNLIRSKVEDPAVIMRGTPQIQRVMTMMIRDHEVLFPKSKDIPLSPPAQKNDPKKAPVARSSVGWDATEDLRISRTDSFSSMTSDSDTTSPTGQQPSDAFPEDSSKVPREKPGDWKMQSRKRTQTLPNRKCFLTSAFQGANSSKMEIFKNEFWSPSSEAKAGEGHRRTMSQDLRQLSDSQRTSTYDNVPSLPGSPGEEASALSSQACDSKGDTLASPNSETGPGKKNSGEEEIDSLQRMVQELRKEIETQKQMYEEQIKNLEKENYDVWAKVVRLNEELEKEKKKSAALEISLRNMERSREDVEKRNKALEEEVKEFVKSMKEPKTEA
UniProt ID: P42331
Variant: M -> T at position 556-556
Variant annotation: in dbSNP:rs10177248
Protein function: GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state.
Reference sequence:
MSLKLPRNWDFNLKVEAAKIARSRSVMTGEQMAAFHPSSTPNPLERPIKMGWLKKQRSIVKNWQQRYFVLRAQQLYYYKDEEDTKPQGCMYLPGCTIKEIATNPEEAGKFVFEIIPASWDQNRMGQDSYVLMASSQAEMEEWVKFLRRVAGTPCGVFGQRLDETVAYEQKFGPHLVPILVEKCAEFILEHGRNEEGIFRLPGQDNLVKQLRDAFDAGERPSFDRDTDVHTVASLLKLYLRDLPEPVVPWSQYEGFLLCGQLTNADEAKAQQELMKQLSILPRDNYSLLSYICRFLHEIQLNCAVNKMSVDNLATVIGVNLIRSKVEDPAVIMRGTPQIQRVMTMMIRDHEVLFPKSKDIPLSPPAQKNDPKKAPVARSSVGWDATEDLRISRTDSFSSMTSDSDTTSPTGQQPSDAFPEDSSKVPREKPGDWKMQSRKRTQTLPNRKCFLTSAFQGANSSKMEIFKNEFWSPSSEAKAGEGHRRTMSQDLRQLSDSQRTSTYDNVPSLPGSPGEEASALSSQACDSKGDTLASPNSETGPGKKNSGEEEIDSLQRMVQELRKEIETQKQMYEEQIKNLEKENYDVWAKVVRLNEELEKEKKKSAALEISLRNMERSREDVEKRNKALEEEVKEFVKSMKEPKTEA
UniProt ID: P42356
Variant: R -> W at position 119-119
Variant annotation: in NEDSPLB; uncertain significance; dbSNP:rs759091754
Protein function: Acts on phosphatidylinositol (PtdIns) in the first committed step in the production of the second messenger inositol-1,4,5,-trisphosphate.
Reference sequence:
MAAAPARGGGGGGGGGGGCSGSGSSASRGFYFNTVLSLARSLAVQRPASLEKVQKLLCMCPVDFHGIFQLDERRRDAVIALGIFLIESDLQHKDCVVPYLLRLLKGLPKVYWVEESTARKGRGALPVAESFSFCLVTLLSDVAYRDPSLRDEILEVLLQVLHVLLGMCQALEIQDKEYLCKYAIPCLIGISRAFGRYSNMEESLLSKLFPKIPPHSLRVLEELEGVRRRSFNDFRSILPSNLLTVCQEGTLKRKTSSVSSISQVSPERGMPPPSSPGGSAFHYFEASCLPDGTALEPEYYFSTISSSFSVSPLFNGVTYKEFNIPLEMLRELLNLVKKIVEEAVLKSLDAIVASVMEANPSADLYYTSFSDPLYLTMFKMLRDTLYYMKDLPTSFVKEIHDFVLEQFNTSQGELQKILHDADRIHNELSPLKLRCQANAACVDLMVWAVKDEQGAENLCIKLSEKLQSKTSSKVIIAHLPLLICCLQGLGRLCERFPVVVHSVTPSLRDFLVIPSPVLVKLYKYHSQYHTVAGNDIKISVTNEHSESTLNVMSGKKSQPSMYEQLRDIAIDNICRCLKAGLTVDPVIVEAFLASLSNRLYISQESDKDAHLIPDHTIRALGHIAVALRDTPKVMEPILQILQQKFCQPPSPLDVLIIDQLGCLVITGNQYIYQEVWNLFQQISVKASSVVYSATKDYKDHGYRHCSLAVINALANIAANIQDEHLVDELLMNLLELFVQLGLEGKRASERASEKGPALKASSSAGNLGVLIPVIAVLTRRLPPIKEAKPRLQKLFRDFWLYSVLMGFAVEGSGLWPEEWYEGVCEIATKSPLLTFPSKEPLRSVLQYNSAMKNDTVTPAELSELRSTIINLLDPPPEVSALINKLDFAMSTYLLSVYRLEYMRVLRSTDPDRFQVMFCYFEDKAIQKDKSGMMQCVIAVADKVFDAFLNMMADKAKTKENEEELERHAQFLLVNFNHIHKRIRRVADKYLSGLVDKFPHLLWSGTVLKTMLDILQTLSLSLSADIHKDQPYYDIPDAPYRITVPDTYEARESIVKDFAARCGMILQEAMKWAPTVTKSHLQEYLNKHQNWVSGLSQHTGLAMATESILHFAGYNKQNTTLGATQLSERPACVKKDYSNFMASLNLRNRYAGEVYGMIRFSGTTGQMSDLNKMMVQDLHSALDRSHPQHYTQAMFKLTAMLISSKDCDPQLLHHLCWGPLRMFNEHGMETALACWEWLLAGKDGVEVPFMREMAGAWHMTVEQKFGLFSAEIKEADPLAASEASQPKPCPPEVTPHYIWIDFLVQRFEIAKYCSSDQVEIFSSLLQRSMSLNIGGAKGSMNRHVAAIGPRFKLLTLGLSLLHADVVPNATIRNVLREKIYSTAFDYFSCPPKFPTQGEKRLREDISIMIKFWTAMFSDKKYLTASQLVPPDNQDTRSNLDITVGSRQQATQGWINTYPLSSGMSTISKKSGMSKKTNRGSQLHKYYMKRRTLLLSLLATEIERLITWYNPLSAPELELDQAGENSVANWRSKYISLSEKQWKDNVNLAWSISPYLAVQLPARFKNTEAIGNEVTRLVRLDPGAVSDVPEAIKFLVTWHTIDADAPELSHVLCWAPTDPPTGLSYFSSMYPPHPLTAQYGVKVLRSFPPDAILFYIPQIVQALRYDKMGYVREYILWAASKSQLLAHQFIWNMKTNIYLDEEGHQKDPDIGDLLDQLVEEITGSLSGPAKDFYQREFDFFNKITNVSAIIKPYPKGDERKKACLSALSEVKVQPGCYLPSNPEAIVLDIDYKSGTPMQSAAKAPYLAKFKVKRCGVSELEKEGLRCRSDSEDECSTQEADGQKISWQAAIFKVGDDCRQDMLALQIIDLFKNIFQLVGLDLFVFPYRVVATAPGCGVIECIPDCTSRDQLGRQTDFGMYDYFTRQYGDESTLAFQQARYNFIRSMAAYSLLLFLLQIKDRHNGNIMLDKKGHIIHIDFGFMFESSPGGNLGWEPDIKLTDEMVMIMGGKMEATPFKWFMEMCVRGYLAVRPYMDAVVSLVTLMLDTGLPCFRGQTIKLLKHRFSPNMTEREAANFIMKVIQSCFLSNRSRTYDMIQYYQNDIPY
UniProt ID: P42356
Variant: M -> V at position 380-380
Variant annotation: in dbSNP:rs17819211
Protein function: Acts on phosphatidylinositol (PtdIns) in the first committed step in the production of the second messenger inositol-1,4,5,-trisphosphate.
Reference sequence:
MAAAPARGGGGGGGGGGGCSGSGSSASRGFYFNTVLSLARSLAVQRPASLEKVQKLLCMCPVDFHGIFQLDERRRDAVIALGIFLIESDLQHKDCVVPYLLRLLKGLPKVYWVEESTARKGRGALPVAESFSFCLVTLLSDVAYRDPSLRDEILEVLLQVLHVLLGMCQALEIQDKEYLCKYAIPCLIGISRAFGRYSNMEESLLSKLFPKIPPHSLRVLEELEGVRRRSFNDFRSILPSNLLTVCQEGTLKRKTSSVSSISQVSPERGMPPPSSPGGSAFHYFEASCLPDGTALEPEYYFSTISSSFSVSPLFNGVTYKEFNIPLEMLRELLNLVKKIVEEAVLKSLDAIVASVMEANPSADLYYTSFSDPLYLTMFKMLRDTLYYMKDLPTSFVKEIHDFVLEQFNTSQGELQKILHDADRIHNELSPLKLRCQANAACVDLMVWAVKDEQGAENLCIKLSEKLQSKTSSKVIIAHLPLLICCLQGLGRLCERFPVVVHSVTPSLRDFLVIPSPVLVKLYKYHSQYHTVAGNDIKISVTNEHSESTLNVMSGKKSQPSMYEQLRDIAIDNICRCLKAGLTVDPVIVEAFLASLSNRLYISQESDKDAHLIPDHTIRALGHIAVALRDTPKVMEPILQILQQKFCQPPSPLDVLIIDQLGCLVITGNQYIYQEVWNLFQQISVKASSVVYSATKDYKDHGYRHCSLAVINALANIAANIQDEHLVDELLMNLLELFVQLGLEGKRASERASEKGPALKASSSAGNLGVLIPVIAVLTRRLPPIKEAKPRLQKLFRDFWLYSVLMGFAVEGSGLWPEEWYEGVCEIATKSPLLTFPSKEPLRSVLQYNSAMKNDTVTPAELSELRSTIINLLDPPPEVSALINKLDFAMSTYLLSVYRLEYMRVLRSTDPDRFQVMFCYFEDKAIQKDKSGMMQCVIAVADKVFDAFLNMMADKAKTKENEEELERHAQFLLVNFNHIHKRIRRVADKYLSGLVDKFPHLLWSGTVLKTMLDILQTLSLSLSADIHKDQPYYDIPDAPYRITVPDTYEARESIVKDFAARCGMILQEAMKWAPTVTKSHLQEYLNKHQNWVSGLSQHTGLAMATESILHFAGYNKQNTTLGATQLSERPACVKKDYSNFMASLNLRNRYAGEVYGMIRFSGTTGQMSDLNKMMVQDLHSALDRSHPQHYTQAMFKLTAMLISSKDCDPQLLHHLCWGPLRMFNEHGMETALACWEWLLAGKDGVEVPFMREMAGAWHMTVEQKFGLFSAEIKEADPLAASEASQPKPCPPEVTPHYIWIDFLVQRFEIAKYCSSDQVEIFSSLLQRSMSLNIGGAKGSMNRHVAAIGPRFKLLTLGLSLLHADVVPNATIRNVLREKIYSTAFDYFSCPPKFPTQGEKRLREDISIMIKFWTAMFSDKKYLTASQLVPPDNQDTRSNLDITVGSRQQATQGWINTYPLSSGMSTISKKSGMSKKTNRGSQLHKYYMKRRTLLLSLLATEIERLITWYNPLSAPELELDQAGENSVANWRSKYISLSEKQWKDNVNLAWSISPYLAVQLPARFKNTEAIGNEVTRLVRLDPGAVSDVPEAIKFLVTWHTIDADAPELSHVLCWAPTDPPTGLSYFSSMYPPHPLTAQYGVKVLRSFPPDAILFYIPQIVQALRYDKMGYVREYILWAASKSQLLAHQFIWNMKTNIYLDEEGHQKDPDIGDLLDQLVEEITGSLSGPAKDFYQREFDFFNKITNVSAIIKPYPKGDERKKACLSALSEVKVQPGCYLPSNPEAIVLDIDYKSGTPMQSAAKAPYLAKFKVKRCGVSELEKEGLRCRSDSEDECSTQEADGQKISWQAAIFKVGDDCRQDMLALQIIDLFKNIFQLVGLDLFVFPYRVVATAPGCGVIECIPDCTSRDQLGRQTDFGMYDYFTRQYGDESTLAFQQARYNFIRSMAAYSLLLFLLQIKDRHNGNIMLDKKGHIIHIDFGFMFESSPGGNLGWEPDIKLTDEMVMIMGGKMEATPFKWFMEMCVRGYLAVRPYMDAVVSLVTLMLDTGLPCFRGQTIKLLKHRFSPNMTEREAANFIMKVIQSCFLSNRSRTYDMIQYYQNDIPY