sujigwak/NVAR huggingface dataset:
UniProt ID: P26439
Variant: G -> V at position 250-250
Variant annotation: in AH2; nonsalt-wasting form; loss of 75% of enzymatic activity for the conversion of pregnenolone to progesterone and dehydroepiandrosterone to androstenedione; no effect on endoplasmic reticulum location
Effect: loss
Target: 75 of enzymatic activity for the conversion of pregnenolone to progesterone and dehydroepiandrosterone to androstenedione
Protein function: 3-beta-HSD is a bifunctional enzyme, that catalyzes the oxidative conversion of Delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. The 3-beta-HSD enzymatic system plays a crucial role in the biosynthesis of all classes of hormonal steroids.
Reference sequence:
MGWSCLVTGAGGLLGQRIVRLLVEEKELKEIRALDKAFRPELREEFSKLQNRTKLTVLEGDILDEPFLKRACQDVSVVIHTACIIDVFGVTHRESIMNVNVKGTQLLLEACVQASVPVFIYTSSIEVAGPNSYKEIIQNGHEEEPLENTWPTPYPYSKKLAEKAVLAANGWNLKNGDTLYTCALRPTYIYGEGGPFLSASINEALNNNGILSSVGKFSTVNPVYVGNVAWAHILALRALRDPKKAPSVRGQFYYISDDTPHQSYDNLNYILSKEFGLRLDSRWSLPLTLMYWIGFLLEVVSFLLSPIYSYQPPFNRHTVTLSNSVFTFSYKKAQRDLAYKPLYSWEEAKQKTVEWVGSLVDRHKETLKSKTQ
UniProt ID: P26439
Variant: Y -> N at position 253-253
Variant annotation: in AH2; activity abolished; dbSNP:rs1399005702
Protein function: 3-beta-HSD is a bifunctional enzyme, that catalyzes the oxidative conversion of Delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. The 3-beta-HSD enzymatic system plays a crucial role in the biosynthesis of all classes of hormonal steroids.
Reference sequence:
MGWSCLVTGAGGLLGQRIVRLLVEEKELKEIRALDKAFRPELREEFSKLQNRTKLTVLEGDILDEPFLKRACQDVSVVIHTACIIDVFGVTHRESIMNVNVKGTQLLLEACVQASVPVFIYTSSIEVAGPNSYKEIIQNGHEEEPLENTWPTPYPYSKKLAEKAVLAANGWNLKNGDTLYTCALRPTYIYGEGGPFLSASINEALNNNGILSSVGKFSTVNPVYVGNVAWAHILALRALRDPKKAPSVRGQFYYISDDTPHQSYDNLNYILSKEFGLRLDSRWSLPLTLMYWIGFLLEVVSFLLSPIYSYQPPFNRHTVTLSNSVFTFSYKKAQRDLAYKPLYSWEEAKQKTVEWVGSLVDRHKETLKSKTQ
UniProt ID: P26439
Variant: Y -> D at position 254-254
Variant annotation: in AH2; activity abolished; dbSNP:rs1411029929
Protein function: 3-beta-HSD is a bifunctional enzyme, that catalyzes the oxidative conversion of Delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. The 3-beta-HSD enzymatic system plays a crucial role in the biosynthesis of all classes of hormonal steroids.
Reference sequence:
MGWSCLVTGAGGLLGQRIVRLLVEEKELKEIRALDKAFRPELREEFSKLQNRTKLTVLEGDILDEPFLKRACQDVSVVIHTACIIDVFGVTHRESIMNVNVKGTQLLLEACVQASVPVFIYTSSIEVAGPNSYKEIIQNGHEEEPLENTWPTPYPYSKKLAEKAVLAANGWNLKNGDTLYTCALRPTYIYGEGGPFLSASINEALNNNGILSSVGKFSTVNPVYVGNVAWAHILALRALRDPKKAPSVRGQFYYISDDTPHQSYDNLNYILSKEFGLRLDSRWSLPLTLMYWIGFLLEVVSFLLSPIYSYQPPFNRHTVTLSNSVFTFSYKKAQRDLAYKPLYSWEEAKQKTVEWVGSLVDRHKETLKSKTQ
UniProt ID: P26439
Variant: T -> M at position 259-259
Variant annotation: in AH2; activity abolished; dbSNP:rs80358221
Protein function: 3-beta-HSD is a bifunctional enzyme, that catalyzes the oxidative conversion of Delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. The 3-beta-HSD enzymatic system plays a crucial role in the biosynthesis of all classes of hormonal steroids.
Reference sequence:
MGWSCLVTGAGGLLGQRIVRLLVEEKELKEIRALDKAFRPELREEFSKLQNRTKLTVLEGDILDEPFLKRACQDVSVVIHTACIIDVFGVTHRESIMNVNVKGTQLLLEACVQASVPVFIYTSSIEVAGPNSYKEIIQNGHEEEPLENTWPTPYPYSKKLAEKAVLAANGWNLKNGDTLYTCALRPTYIYGEGGPFLSASINEALNNNGILSSVGKFSTVNPVYVGNVAWAHILALRALRDPKKAPSVRGQFYYISDDTPHQSYDNLNYILSKEFGLRLDSRWSLPLTLMYWIGFLLEVVSFLLSPIYSYQPPFNRHTVTLSNSVFTFSYKKAQRDLAYKPLYSWEEAKQKTVEWVGSLVDRHKETLKSKTQ
UniProt ID: P26439
Variant: T -> R at position 259-259
Variant annotation: in AH2; activity abolished
Protein function: 3-beta-HSD is a bifunctional enzyme, that catalyzes the oxidative conversion of Delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. The 3-beta-HSD enzymatic system plays a crucial role in the biosynthesis of all classes of hormonal steroids.
Reference sequence:
MGWSCLVTGAGGLLGQRIVRLLVEEKELKEIRALDKAFRPELREEFSKLQNRTKLTVLEGDILDEPFLKRACQDVSVVIHTACIIDVFGVTHRESIMNVNVKGTQLLLEACVQASVPVFIYTSSIEVAGPNSYKEIIQNGHEEEPLENTWPTPYPYSKKLAEKAVLAANGWNLKNGDTLYTCALRPTYIYGEGGPFLSASINEALNNNGILSSVGKFSTVNPVYVGNVAWAHILALRALRDPKKAPSVRGQFYYISDDTPHQSYDNLNYILSKEFGLRLDSRWSLPLTLMYWIGFLLEVVSFLLSPIYSYQPPFNRHTVTLSNSVFTFSYKKAQRDLAYKPLYSWEEAKQKTVEWVGSLVDRHKETLKSKTQ
UniProt ID: P26439
Variant: G -> V at position 294-294
Variant annotation: in AH2; nonsalt-wasting form; activity abolished
Protein function: 3-beta-HSD is a bifunctional enzyme, that catalyzes the oxidative conversion of Delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. The 3-beta-HSD enzymatic system plays a crucial role in the biosynthesis of all classes of hormonal steroids.
Reference sequence:
MGWSCLVTGAGGLLGQRIVRLLVEEKELKEIRALDKAFRPELREEFSKLQNRTKLTVLEGDILDEPFLKRACQDVSVVIHTACIIDVFGVTHRESIMNVNVKGTQLLLEACVQASVPVFIYTSSIEVAGPNSYKEIIQNGHEEEPLENTWPTPYPYSKKLAEKAVLAANGWNLKNGDTLYTCALRPTYIYGEGGPFLSASINEALNNNGILSSVGKFSTVNPVYVGNVAWAHILALRALRDPKKAPSVRGQFYYISDDTPHQSYDNLNYILSKEFGLRLDSRWSLPLTLMYWIGFLLEVVSFLLSPIYSYQPPFNRHTVTLSNSVFTFSYKKAQRDLAYKPLYSWEEAKQKTVEWVGSLVDRHKETLKSKTQ
UniProt ID: P26439
Variant: P -> L at position 341-341
Variant annotation: in AH2; strongly reduced activity; dbSNP:rs121964897
Protein function: 3-beta-HSD is a bifunctional enzyme, that catalyzes the oxidative conversion of Delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. The 3-beta-HSD enzymatic system plays a crucial role in the biosynthesis of all classes of hormonal steroids.
Reference sequence:
MGWSCLVTGAGGLLGQRIVRLLVEEKELKEIRALDKAFRPELREEFSKLQNRTKLTVLEGDILDEPFLKRACQDVSVVIHTACIIDVFGVTHRESIMNVNVKGTQLLLEACVQASVPVFIYTSSIEVAGPNSYKEIIQNGHEEEPLENTWPTPYPYSKKLAEKAVLAANGWNLKNGDTLYTCALRPTYIYGEGGPFLSASINEALNNNGILSSVGKFSTVNPVYVGNVAWAHILALRALRDPKKAPSVRGQFYYISDDTPHQSYDNLNYILSKEFGLRLDSRWSLPLTLMYWIGFLLEVVSFLLSPIYSYQPPFNRHTVTLSNSVFTFSYKKAQRDLAYKPLYSWEEAKQKTVEWVGSLVDRHKETLKSKTQ
UniProt ID: P26441
Variant: N -> S at position 49-49
Variant annotation: in dbSNP:rs17152779
Protein function: CNTF is a survival factor for various neuronal cell types. Seems to prevent the degeneration of motor axons after axotomy.
Reference sequence:
MAFTEHSPLTPHRRDLCSRSIWLARKIRSDLTALTESYVKHQGLNKNINLDSADGMPVASTDQWSELTEAERLQENLQAYRTFHVLLARLLEDQQVHFTPTEGDFHQAIHTLLLQVAAFAYQIEELMILLEYKIPRNEADGMPINVGDGGLFEKKLWGLKVLQELSQWTVRSIHDLRFISSHQTGIPARGSHYIANNKKM
UniProt ID: P26441
Variant: H -> R at position 182-182
Variant annotation: in dbSNP:rs6266
Protein function: CNTF is a survival factor for various neuronal cell types. Seems to prevent the degeneration of motor axons after axotomy.
Reference sequence:
MAFTEHSPLTPHRRDLCSRSIWLARKIRSDLTALTESYVKHQGLNKNINLDSADGMPVASTDQWSELTEAERLQENLQAYRTFHVLLARLLEDQQVHFTPTEGDFHQAIHTLLLQVAAFAYQIEELMILLEYKIPRNEADGMPINVGDGGLFEKKLWGLKVLQELSQWTVRSIHDLRFISSHQTGIPARGSHYIANNKKM
UniProt ID: P26526
Variant: L -> I at position 438-438
Variant annotation: in strain: CC-503
Protein function: The alpha chain is a regulatory subunit.
Reference sequence:
MAMRTPEELSNLIKDLIEQYTPEVKMVDFGIVFQVGDGIARIYGLEKAMSGELLEFEDGTLGIALNLEANNVGAVLLGDGLKITEGSRVRCTGKIAEIPVGEAYLGRVVDGLARPVDGKGAVQTKDSRAIESPAPGIVARRSVYEPLATGLVAVDAMIPVGRGQRELIIGDRQTGKTAIAVDTILNQKGKGVICVYVAIGQKASSVAQVLNTLKERGALDYTIIVMANANEPATLQYLAPYTGATLAEYFMYTGRPTLTIYDDLSKQAQAYREMSLLLRRPPGREAYPGDVFYLHSRLLERAAKLNNALGEGSMTALPIVETQEGDVSAYIPTNVISITDGQIFLAAGLFNSGLRPAINVGISVSRVGSAAQPKAMKQVAGKLKLELAQFAELEAFSQFASDLDQATQNQLARGARLREILKQPQSSPLSVEEQVASLYAGTNGYLDKLEVSQVRAYLSGLRSYLANSYPKYGEILRSTLTFTPEAEGLVKQAINEYLEEFKSQAKAA
UniProt ID: P26572
Variant: R -> Q at position 223-223
Variant annotation: in dbSNP:rs7726005
Protein function: Initiates complex N-linked carbohydrate formation. Essential for the conversion of high-mannose to hybrid and complex N-glycans.
Reference sequence:
MLKKQSAGLVLWGAILFVAWNALLLLFFWTRPAPGRPPSVSALDGDPASLTREVIRLAQDAEVELERQRGLLQQIGDALSSQRGRVPTAAPPAQPRVPVTPAPAVIPILVIACDRSTVRRCLDKLLHYRPSAELFPIIVSQDCGHEETAQAIASYGSAVTHIRQPDLSSIAVPPDHRKFQGYYKIARHYRWALGQVFRQFRFPAAVVVEDDLEVAPDFFEYFRATYPLLKADPSLWCVSAWNDNGKEQMVDASRPELLYRTDFFPGLGWLLLAELWAELEPKWPKAFWDDWMRRPEQRQGRACIRPEISRTMTFGRKGVSHGQFFDQHLKFIKLNQQFVHFTQLDLSYLQREAYDRDFLARVYGAPQLQVEKVRTNDRKELGEVRVQYTGRDSFKAFAKALGVMDDLKSGVPRAGYRGIVTFQFRGRRVHLAPPLTWEGYDPSWN
UniProt ID: P26572
Variant: L -> P at position 435-435
Variant annotation: in dbSNP:rs634501
Protein function: Initiates complex N-linked carbohydrate formation. Essential for the conversion of high-mannose to hybrid and complex N-glycans.
Reference sequence:
MLKKQSAGLVLWGAILFVAWNALLLLFFWTRPAPGRPPSVSALDGDPASLTREVIRLAQDAEVELERQRGLLQQIGDALSSQRGRVPTAAPPAQPRVPVTPAPAVIPILVIACDRSTVRRCLDKLLHYRPSAELFPIIVSQDCGHEETAQAIASYGSAVTHIRQPDLSSIAVPPDHRKFQGYYKIARHYRWALGQVFRQFRFPAAVVVEDDLEVAPDFFEYFRATYPLLKADPSLWCVSAWNDNGKEQMVDASRPELLYRTDFFPGLGWLLLAELWAELEPKWPKAFWDDWMRRPEQRQGRACIRPEISRTMTFGRKGVSHGQFFDQHLKFIKLNQQFVHFTQLDLSYLQREAYDRDFLARVYGAPQLQVEKVRTNDRKELGEVRVQYTGRDSFKAFAKALGVMDDLKSGVPRAGYRGIVTFQFRGRRVHLAPPLTWEGYDPSWN
UniProt ID: P26623
Variant: S -> A at position 56-56
Variant annotation: in strain: L2
Protein function: PPIases accelerate the folding of proteins.
Reference sequence:
MKNILSWMLMFAVALPIVGCDNGGGSQTSATEKSMVEDSALTDNQKLSRTFGHLLSRQLSRTEDFSLDLVEVIKGMQSEIDGQSAPLTDTEYEKQMAEVQKASFEAKCSENLASAEKFLKENKEKAGVIELEPNKLQYRVVKEGTGRVLSGKPTALLHYTGSFIDGKVFDSSEKNKEPILLPLTKVIPGFSQGMQGMKEGEVRVLYIHPDLAYGTAGQLPPNSLLIFEVKLIEANDDNVSVTE
UniProt ID: P26623
Variant: K -> E at position 117-117
Variant annotation: in strain: L2
Protein function: PPIases accelerate the folding of proteins.
Reference sequence:
MKNILSWMLMFAVALPIVGCDNGGGSQTSATEKSMVEDSALTDNQKLSRTFGHLLSRQLSRTEDFSLDLVEVIKGMQSEIDGQSAPLTDTEYEKQMAEVQKASFEAKCSENLASAEKFLKENKEKAGVIELEPNKLQYRVVKEGTGRVLSGKPTALLHYTGSFIDGKVFDSSEKNKEPILLPLTKVIPGFSQGMQGMKEGEVRVLYIHPDLAYGTAGQLPPNSLLIFEVKLIEANDDNVSVTE
UniProt ID: P26651
Variant: P -> S at position 37-37
Variant annotation: in dbSNP:rs17878633
Protein function: (Microbial infection) Negatively regulates HTLV-1 TAX-dependent transactivation of viral long terminal repeat (LTR) promoter.
Reference sequence:
MDLTAIYESLLSLSPDVPVPSDHGGTESSPGWGSSGPWSLSPSDSSPSGVTSRLPGRSTSLVEGRSCGWVPPPPGFAPLAPRLGPELSPSPTSPTATSTTPSRYKTELCRTFSESGRCRYGAKCQFAHGLGELRQANRHPKYKTELCHKFYLQGRCPYGSRCHFIHNPSEDLAAPGHPPVLRQSISFSGLPSGRRTSPPPPGLAGPSLSSSSFSPSSSPPPPGDLPLSPSAFSAAPGTPLARRDPTPVCCPSCRRATPISVWGPLGGLVRTPSVQSLGSDPDEYASSGSSLGGSDSPVFEAGVFAPPQPVAAPRRLPIFNRISVSE
UniProt ID: P26651
Variant: P -> S at position 55-55
Variant annotation: in dbSNP:rs2229272
Protein function: (Microbial infection) Negatively regulates HTLV-1 TAX-dependent transactivation of viral long terminal repeat (LTR) promoter.
Reference sequence:
MDLTAIYESLLSLSPDVPVPSDHGGTESSPGWGSSGPWSLSPSDSSPSGVTSRLPGRSTSLVEGRSCGWVPPPPGFAPLAPRLGPELSPSPTSPTATSTTPSRYKTELCRTFSESGRCRYGAKCQFAHGLGELRQANRHPKYKTELCHKFYLQGRCPYGSRCHFIHNPSEDLAAPGHPPVLRQSISFSGLPSGRRTSPPPPGLAGPSLSSSSFSPSSSPPPPGDLPLSPSAFSAAPGTPLARRDPTPVCCPSCRRATPISVWGPLGGLVRTPSVQSLGSDPDEYASSGSSLGGSDSPVFEAGVFAPPQPVAAPRRLPIFNRISVSE
UniProt ID: P26651
Variant: I -> F at position 259-259
Variant annotation: in dbSNP:rs17886974
Protein function: (Microbial infection) Negatively regulates HTLV-1 TAX-dependent transactivation of viral long terminal repeat (LTR) promoter.
Reference sequence:
MDLTAIYESLLSLSPDVPVPSDHGGTESSPGWGSSGPWSLSPSDSSPSGVTSRLPGRSTSLVEGRSCGWVPPPPGFAPLAPRLGPELSPSPTSPTATSTTPSRYKTELCRTFSESGRCRYGAKCQFAHGLGELRQANRHPKYKTELCHKFYLQGRCPYGSRCHFIHNPSEDLAAPGHPPVLRQSISFSGLPSGRRTSPPPPGLAGPSLSSSSFSPSSSPPPPGDLPLSPSAFSAAPGTPLARRDPTPVCCPSCRRATPISVWGPLGGLVRTPSVQSLGSDPDEYASSGSSLGGSDSPVFEAGVFAPPQPVAAPRRLPIFNRISVSE
UniProt ID: P26651
Variant: V -> F at position 324-324
Variant annotation: in dbSNP:rs17884899
Protein function: (Microbial infection) Negatively regulates HTLV-1 TAX-dependent transactivation of viral long terminal repeat (LTR) promoter.
Reference sequence:
MDLTAIYESLLSLSPDVPVPSDHGGTESSPGWGSSGPWSLSPSDSSPSGVTSRLPGRSTSLVEGRSCGWVPPPPGFAPLAPRLGPELSPSPTSPTATSTTPSRYKTELCRTFSESGRCRYGAKCQFAHGLGELRQANRHPKYKTELCHKFYLQGRCPYGSRCHFIHNPSEDLAAPGHPPVLRQSISFSGLPSGRRTSPPPPGLAGPSLSSSSFSPSSSPPPPGDLPLSPSAFSAAPGTPLARRDPTPVCCPSCRRATPISVWGPLGGLVRTPSVQSLGSDPDEYASSGSSLGGSDSPVFEAGVFAPPQPVAAPRRLPIFNRISVSE
UniProt ID: P26675
Variant: P -> L at position 1256-1256
Variant annotation: in strain: St_L028 and St_L033
Protein function: Promotes the exchange of Ras-bound GDP by GTP. Functions in signaling pathways initiated by the sevenless and epidermal growth factor receptor tyrosine kinases; implies a role for the ras pathway in neuronal development.
Reference sequence:
MFSGPSGHAHTISYGGGIGLGTGGGGGSGGSGSGSQGGGGGIGIGGGGVAGLQDCDGYDFTKCENAARWRGLFTPSLKKVLEQVHPRVTAKEDALLYVEKLCLRLLAMLCAKPLPHSVQDVEEKVNKSFPAPIDQWALNEAKEVINSKKRKSVLPTEKVHTLLQKDVLQYKIDSSVSAFLVAVLEYISADILKMAGDYVIKIAHCEITKEDIEVVMNADRVLMDMLNQSEAHILPSPLSLPAQRASATYEETVKELIHDEKQYQRDLHMIIRVFREELVKIVSDPRELEPIFSNIMDIYEVTVTLLGSLEDVIEMSQEQSAPCVGSCFEELAEAEEFDVYKKYAYDVTSQASRDALNNLLSKPGASSLTTAGHGFRDAVKYYLPKLLLVPICHAFVYFDYIKHLKDLSSSQDDIESFEQVQGLLHPLHCDLEKVMASLSKERQVPVSGRVRRQLAIERTRELQMKVEHWEDKDVGQNCNEFIREDSLSKLGSGKRIWSERKVFLFDGLMVLCKANTKKQTPSAGATAYDYRLKEKYFMRRVDINDRPDSDDLKNSFELAPRMQPPIVLTAKNAQHKHDWMADLLMVITKSMLDRHLDSILQDIERKHPLRMPSPEIYKFAVPDSGDNIVLEERESAGVPMIKGATLCKLIERLTYHIYADPTFVRTFLTTYRYFCSPQQLLQLLVERFNIPDPSLVYQDTGTAGAGGMGGVGGDKEHKNSHREDWKRYRKEYVQPVQFRVLNVLRHWVDHHFYDFEKDPMLLEKLLNFLEHVNGKSMRKWVDSVLKIVQRKNEQEKSNKKIVYAYGHDPPPIEHHLSVPNDEITLLTLHPLELARQLTLLEFEMYKNVKPSELVGSPWTKKDKEVKSPNLLKIMKHTTNVTRWIEKSITEAENYEERLAIMQRAIEVMMVMLELNNFNGILSIVAAMGTASVYRLRWTFQGLPERYRKFLEECRELSDDHLKKYQERLRSINPPCVPFFGRYLTNILHLEEGNPDLLANTELINFSKRRKVAEIIGEIQQYQNQPYCLNEESTIRQFFEQLDPFNGLSDKQMSDYLYNESLRIEPRGCKTVPKFPRKWPHIPLKSPGIKPRRQNQTNSSSKLSNSTSSVAAAAAASSTATSIATASAPSLHASSIMDAPTAAAANAGSGTLAGEQSPQHNPHAFSVFAPVIIPERNTSSWSGTPQHTRTDQNNGEVSVPAPHLPKKPGAHVWANNNSTLASASAMDVVFSPALPEHLPPQSLPDSNPFASDTEAPPSPLPKLVVSPRHETGNRSPFHGRMQNSPTHSTASTVTLTGMSTSGGEEFCAGGFYFNSAHQGQPGAVPISPHVNVPMATNMEYRAVPPPLPPRRKERTESCADMAQKRQAPDAPTLPPRDGELSPPPIPPRLNHSTGISYLRQSHGKSKEFVGNSSLLLPNTSSIMIRRNSAIEKRAAATSQPNQAAAGPISTTLVTVSQAVATDEPLPLPISPAASSSTTTSPLTPAMSPMSPNIPSHPVESTSSSYAHQLRMRQQQQQQTHPAIYSQHHQHHATHLPHHPHQHHSNPTQSRSSPKEFFPIATSLEGTPKLPPKPSLSANFYNNPDKGTMFLYPSTNEE
UniProt ID: P26675
Variant: A -> S at position 1322-1322
Variant annotation: in strain: In_L019
Protein function: Promotes the exchange of Ras-bound GDP by GTP. Functions in signaling pathways initiated by the sevenless and epidermal growth factor receptor tyrosine kinases; implies a role for the ras pathway in neuronal development.
Reference sequence:
MFSGPSGHAHTISYGGGIGLGTGGGGGSGGSGSGSQGGGGGIGIGGGGVAGLQDCDGYDFTKCENAARWRGLFTPSLKKVLEQVHPRVTAKEDALLYVEKLCLRLLAMLCAKPLPHSVQDVEEKVNKSFPAPIDQWALNEAKEVINSKKRKSVLPTEKVHTLLQKDVLQYKIDSSVSAFLVAVLEYISADILKMAGDYVIKIAHCEITKEDIEVVMNADRVLMDMLNQSEAHILPSPLSLPAQRASATYEETVKELIHDEKQYQRDLHMIIRVFREELVKIVSDPRELEPIFSNIMDIYEVTVTLLGSLEDVIEMSQEQSAPCVGSCFEELAEAEEFDVYKKYAYDVTSQASRDALNNLLSKPGASSLTTAGHGFRDAVKYYLPKLLLVPICHAFVYFDYIKHLKDLSSSQDDIESFEQVQGLLHPLHCDLEKVMASLSKERQVPVSGRVRRQLAIERTRELQMKVEHWEDKDVGQNCNEFIREDSLSKLGSGKRIWSERKVFLFDGLMVLCKANTKKQTPSAGATAYDYRLKEKYFMRRVDINDRPDSDDLKNSFELAPRMQPPIVLTAKNAQHKHDWMADLLMVITKSMLDRHLDSILQDIERKHPLRMPSPEIYKFAVPDSGDNIVLEERESAGVPMIKGATLCKLIERLTYHIYADPTFVRTFLTTYRYFCSPQQLLQLLVERFNIPDPSLVYQDTGTAGAGGMGGVGGDKEHKNSHREDWKRYRKEYVQPVQFRVLNVLRHWVDHHFYDFEKDPMLLEKLLNFLEHVNGKSMRKWVDSVLKIVQRKNEQEKSNKKIVYAYGHDPPPIEHHLSVPNDEITLLTLHPLELARQLTLLEFEMYKNVKPSELVGSPWTKKDKEVKSPNLLKIMKHTTNVTRWIEKSITEAENYEERLAIMQRAIEVMMVMLELNNFNGILSIVAAMGTASVYRLRWTFQGLPERYRKFLEECRELSDDHLKKYQERLRSINPPCVPFFGRYLTNILHLEEGNPDLLANTELINFSKRRKVAEIIGEIQQYQNQPYCLNEESTIRQFFEQLDPFNGLSDKQMSDYLYNESLRIEPRGCKTVPKFPRKWPHIPLKSPGIKPRRQNQTNSSSKLSNSTSSVAAAAAASSTATSIATASAPSLHASSIMDAPTAAAANAGSGTLAGEQSPQHNPHAFSVFAPVIIPERNTSSWSGTPQHTRTDQNNGEVSVPAPHLPKKPGAHVWANNNSTLASASAMDVVFSPALPEHLPPQSLPDSNPFASDTEAPPSPLPKLVVSPRHETGNRSPFHGRMQNSPTHSTASTVTLTGMSTSGGEEFCAGGFYFNSAHQGQPGAVPISPHVNVPMATNMEYRAVPPPLPPRRKERTESCADMAQKRQAPDAPTLPPRDGELSPPPIPPRLNHSTGISYLRQSHGKSKEFVGNSSLLLPNTSSIMIRRNSAIEKRAAATSQPNQAAAGPISTTLVTVSQAVATDEPLPLPISPAASSSTTTSPLTPAMSPMSPNIPSHPVESTSSSYAHQLRMRQQQQQQTHPAIYSQHHQHHATHLPHHPHQHHSNPTQSRSSPKEFFPIATSLEGTPKLPPKPSLSANFYNNPDKGTMFLYPSTNEE
UniProt ID: P26675
Variant: S -> N at position 1503-1503
Variant annotation: in strain: In_L019
Protein function: Promotes the exchange of Ras-bound GDP by GTP. Functions in signaling pathways initiated by the sevenless and epidermal growth factor receptor tyrosine kinases; implies a role for the ras pathway in neuronal development.
Reference sequence:
MFSGPSGHAHTISYGGGIGLGTGGGGGSGGSGSGSQGGGGGIGIGGGGVAGLQDCDGYDFTKCENAARWRGLFTPSLKKVLEQVHPRVTAKEDALLYVEKLCLRLLAMLCAKPLPHSVQDVEEKVNKSFPAPIDQWALNEAKEVINSKKRKSVLPTEKVHTLLQKDVLQYKIDSSVSAFLVAVLEYISADILKMAGDYVIKIAHCEITKEDIEVVMNADRVLMDMLNQSEAHILPSPLSLPAQRASATYEETVKELIHDEKQYQRDLHMIIRVFREELVKIVSDPRELEPIFSNIMDIYEVTVTLLGSLEDVIEMSQEQSAPCVGSCFEELAEAEEFDVYKKYAYDVTSQASRDALNNLLSKPGASSLTTAGHGFRDAVKYYLPKLLLVPICHAFVYFDYIKHLKDLSSSQDDIESFEQVQGLLHPLHCDLEKVMASLSKERQVPVSGRVRRQLAIERTRELQMKVEHWEDKDVGQNCNEFIREDSLSKLGSGKRIWSERKVFLFDGLMVLCKANTKKQTPSAGATAYDYRLKEKYFMRRVDINDRPDSDDLKNSFELAPRMQPPIVLTAKNAQHKHDWMADLLMVITKSMLDRHLDSILQDIERKHPLRMPSPEIYKFAVPDSGDNIVLEERESAGVPMIKGATLCKLIERLTYHIYADPTFVRTFLTTYRYFCSPQQLLQLLVERFNIPDPSLVYQDTGTAGAGGMGGVGGDKEHKNSHREDWKRYRKEYVQPVQFRVLNVLRHWVDHHFYDFEKDPMLLEKLLNFLEHVNGKSMRKWVDSVLKIVQRKNEQEKSNKKIVYAYGHDPPPIEHHLSVPNDEITLLTLHPLELARQLTLLEFEMYKNVKPSELVGSPWTKKDKEVKSPNLLKIMKHTTNVTRWIEKSITEAENYEERLAIMQRAIEVMMVMLELNNFNGILSIVAAMGTASVYRLRWTFQGLPERYRKFLEECRELSDDHLKKYQERLRSINPPCVPFFGRYLTNILHLEEGNPDLLANTELINFSKRRKVAEIIGEIQQYQNQPYCLNEESTIRQFFEQLDPFNGLSDKQMSDYLYNESLRIEPRGCKTVPKFPRKWPHIPLKSPGIKPRRQNQTNSSSKLSNSTSSVAAAAAASSTATSIATASAPSLHASSIMDAPTAAAANAGSGTLAGEQSPQHNPHAFSVFAPVIIPERNTSSWSGTPQHTRTDQNNGEVSVPAPHLPKKPGAHVWANNNSTLASASAMDVVFSPALPEHLPPQSLPDSNPFASDTEAPPSPLPKLVVSPRHETGNRSPFHGRMQNSPTHSTASTVTLTGMSTSGGEEFCAGGFYFNSAHQGQPGAVPISPHVNVPMATNMEYRAVPPPLPPRRKERTESCADMAQKRQAPDAPTLPPRDGELSPPPIPPRLNHSTGISYLRQSHGKSKEFVGNSSLLLPNTSSIMIRRNSAIEKRAAATSQPNQAAAGPISTTLVTVSQAVATDEPLPLPISPAASSSTTTSPLTPAMSPMSPNIPSHPVESTSSSYAHQLRMRQQQQQQTHPAIYSQHHQHHATHLPHHPHQHHSNPTQSRSSPKEFFPIATSLEGTPKLPPKPSLSANFYNNPDKGTMFLYPSTNEE
UniProt ID: P26678
Variant: R -> C at position 9-9
Variant annotation: in CMD1P; impairs phosphorylation by PKA and inhibition of ATP2A1-mediated calcium uptake; dbSNP:rs111033559
Protein function: Reversibly inhibits the activity of ATP2A2 in cardiac sarcoplasmic reticulum by decreasing the apparent affinity of the ATPase for Ca(2+) . Modulates the contractility of the heart muscle in response to physiological stimuli via its effects on ATP2A2. Modulates calcium re-uptake during muscle relaxation and plays an important role in calcium homeostasis in the heart muscle. The degree of ATP2A2 inhibition depends on the oligomeric state of PLN. ATP2A2 inhibition is alleviated by PLN phosphorylation.
Reference sequence:
MEKVQYLTRSAIRRASTIEMPQQARQKLQNLFINFCLILICLLLICIIVMLL
UniProt ID: P26678
Variant: R -> H at position 9-9
Variant annotation: in CMD1P; impairs phosphorylation by PKA and inhibition of ATP2A1-mediated calcium uptake; dbSNP:rs754782171
Protein function: Reversibly inhibits the activity of ATP2A2 in cardiac sarcoplasmic reticulum by decreasing the apparent affinity of the ATPase for Ca(2+) . Modulates the contractility of the heart muscle in response to physiological stimuli via its effects on ATP2A2. Modulates calcium re-uptake during muscle relaxation and plays an important role in calcium homeostasis in the heart muscle. The degree of ATP2A2 inhibition depends on the oligomeric state of PLN. ATP2A2 inhibition is alleviated by PLN phosphorylation.
Reference sequence:
MEKVQYLTRSAIRRASTIEMPQQARQKLQNLFINFCLILICLLLICIIVMLL
UniProt ID: P26678
Variant: R -> L at position 9-9
Variant annotation: in CMD1P; impairs phosphorylation by PKA and inhibition of ATP2A1-mediated calcium uptake
Protein function: Reversibly inhibits the activity of ATP2A2 in cardiac sarcoplasmic reticulum by decreasing the apparent affinity of the ATPase for Ca(2+) . Modulates the contractility of the heart muscle in response to physiological stimuli via its effects on ATP2A2. Modulates calcium re-uptake during muscle relaxation and plays an important role in calcium homeostasis in the heart muscle. The degree of ATP2A2 inhibition depends on the oligomeric state of PLN. ATP2A2 inhibition is alleviated by PLN phosphorylation.
Reference sequence:
MEKVQYLTRSAIRRASTIEMPQQARQKLQNLFINFCLILICLLLICIIVMLL
UniProt ID: P26697
Variant: L -> V at position 45-45
Protein function: Catalyzes the conjugation of GSH to a wide variety of electrophilic alkylating agents. Also involved in the metabolism of lipid hydroperoxides, prostaglandins and leukotriene A4 and in binding of non-substrate hydrophobic ligands such as bile acids, a number of drugs and thyroid hormones. This GST does not exhibit peroxidase activity.
Reference sequence:
MAAKPVLYYFNGRGKMESIRWLLAAAGVEFEEVFLETREQYEKLLQSGILMFQQVPMVEIDGMKLVQTRAILNYIAGKYNLYGKDLKERALIDMYVGGTDDLMGFLLSFPFLSAEDKVKQCAFVVEKATSRYFPAYEKVLKDHGQDFLVGNRLSWADIHLLEAILMVEEKKSDALSGFPLLQAFKKRISSIPTIKKFLAPGSKRKPISDDKYVETVRRVLRMYYDVKPH
UniProt ID: P26697
Variant: S -> A at position 47-47
Protein function: Catalyzes the conjugation of GSH to a wide variety of electrophilic alkylating agents. Also involved in the metabolism of lipid hydroperoxides, prostaglandins and leukotriene A4 and in binding of non-substrate hydrophobic ligands such as bile acids, a number of drugs and thyroid hormones. This GST does not exhibit peroxidase activity.
Reference sequence:
MAAKPVLYYFNGRGKMESIRWLLAAAGVEFEEVFLETREQYEKLLQSGILMFQQVPMVEIDGMKLVQTRAILNYIAGKYNLYGKDLKERALIDMYVGGTDDLMGFLLSFPFLSAEDKVKQCAFVVEKATSRYFPAYEKVLKDHGQDFLVGNRLSWADIHLLEAILMVEEKKSDALSGFPLLQAFKKRISSIPTIKKFLAPGSKRKPISDDKYVETVRRVLRMYYDVKPH
UniProt ID: P26697
Variant: I -> F at position 49-49
Protein function: Catalyzes the conjugation of GSH to a wide variety of electrophilic alkylating agents. Also involved in the metabolism of lipid hydroperoxides, prostaglandins and leukotriene A4 and in binding of non-substrate hydrophobic ligands such as bile acids, a number of drugs and thyroid hormones. This GST does not exhibit peroxidase activity.
Reference sequence:
MAAKPVLYYFNGRGKMESIRWLLAAAGVEFEEVFLETREQYEKLLQSGILMFQQVPMVEIDGMKLVQTRAILNYIAGKYNLYGKDLKERALIDMYVGGTDDLMGFLLSFPFLSAEDKVKQCAFVVEKATSRYFPAYEKVLKDHGQDFLVGNRLSWADIHLLEAILMVEEKKSDALSGFPLLQAFKKRISSIPTIKKFLAPGSKRKPISDDKYVETVRRVLRMYYDVKPH
UniProt ID: P26697
Variant: I -> V at position 49-49
Protein function: Catalyzes the conjugation of GSH to a wide variety of electrophilic alkylating agents. Also involved in the metabolism of lipid hydroperoxides, prostaglandins and leukotriene A4 and in binding of non-substrate hydrophobic ligands such as bile acids, a number of drugs and thyroid hormones. This GST does not exhibit peroxidase activity.
Reference sequence:
MAAKPVLYYFNGRGKMESIRWLLAAAGVEFEEVFLETREQYEKLLQSGILMFQQVPMVEIDGMKLVQTRAILNYIAGKYNLYGKDLKERALIDMYVGGTDDLMGFLLSFPFLSAEDKVKQCAFVVEKATSRYFPAYEKVLKDHGQDFLVGNRLSWADIHLLEAILMVEEKKSDALSGFPLLQAFKKRISSIPTIKKFLAPGSKRKPISDDKYVETVRRVLRMYYDVKPH
UniProt ID: P26697
Variant: F -> R at position 52-52
Protein function: Catalyzes the conjugation of GSH to a wide variety of electrophilic alkylating agents. Also involved in the metabolism of lipid hydroperoxides, prostaglandins and leukotriene A4 and in binding of non-substrate hydrophobic ligands such as bile acids, a number of drugs and thyroid hormones. This GST does not exhibit peroxidase activity.
Reference sequence:
MAAKPVLYYFNGRGKMESIRWLLAAAGVEFEEVFLETREQYEKLLQSGILMFQQVPMVEIDGMKLVQTRAILNYIAGKYNLYGKDLKERALIDMYVGGTDDLMGFLLSFPFLSAEDKVKQCAFVVEKATSRYFPAYEKVLKDHGQDFLVGNRLSWADIHLLEAILMVEEKKSDALSGFPLLQAFKKRISSIPTIKKFLAPGSKRKPISDDKYVETVRRVLRMYYDVKPH
UniProt ID: P26697
Variant: TS -> AN at position 129-130
Protein function: Catalyzes the conjugation of GSH to a wide variety of electrophilic alkylating agents. Also involved in the metabolism of lipid hydroperoxides, prostaglandins and leukotriene A4 and in binding of non-substrate hydrophobic ligands such as bile acids, a number of drugs and thyroid hormones. This GST does not exhibit peroxidase activity.
Reference sequence:
MAAKPVLYYFNGRGKMESIRWLLAAAGVEFEEVFLETREQYEKLLQSGILMFQQVPMVEIDGMKLVQTRAILNYIAGKYNLYGKDLKERALIDMYVGGTDDLMGFLLSFPFLSAEDKVKQCAFVVEKATSRYFPAYEKVLKDHGQDFLVGNRLSWADIHLLEAILMVEEKKSDALSGFPLLQAFKKRISSIPTIKKFLAPGSKRKPISDDKYVETVRRVLRMYYDVKPH