sujigwak/NVAR huggingface dataset:
UniProt ID: P15215
Variant: F -> Y at position 831-831
Protein function: Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components.
Reference sequence:
MKRSRWSHSGSSTARLLLIGVLFASCSTAILGAQRPPINSAGGHELRGTTFMPALECYDPYGRPQKCLPEFINAAYQLQIESTNTCGEQNDNHFCIQTMNQNHKNCEFCKYNDHNPSFLTDLHDPQSPTWWQSETMFEGIQHPNYVNLTLHLGKSYDITYVRILFRSPRPESFTIYKRTSESGPWIPYQFYSATCRDTYSLPDSRAIRKGEGEAHALCTSEYSDISPLRDGEIAFSTLEGRPSGINFERSGELQEWVTATDIRITLDRLNTFGDELFGDSQVLKSYFYAISDIAVGARCKCNGHASKCVPSTGMHGERTLVCECRHNTDGPDCDRCLPLYNDLKWKRSTSTEVNECKACNCNGLADKCFFDANLFNRTGHGGHCLDCRENRDGPNCERCKENFYMRDDGYCVNCACDPVGSRSLQCNSHGKCQCKPGVTGDKCDRCDNNYYQFGPHGCQQCGCDSGGSHQNTPACDTETGICFCKENVEGRRCNECKPGFFNLDKNNRFGCTPCFCYGHTSECMTAPGYSIVSVTSNFNKFKERWTAADLNQREVDIKYNQYSRSIGTTAQGNEHVYFQAPDRFLGDQRASYNRDLKFKLQLVGQVANTGVSDVILEGAGSRISLPIFAQGNGIPDQGVKEYTFRLHEHHDYQWQPSQSARGFLSILSNLTAIKIRATYSVQGEAILDDVELQTAHRGAAGHPATWIEQCTCPEGYLGQFCESCAPGYRHSPARGGPFMPCIPCDCHGHADICDSETGRCICQHNTHGDNCDQCAKGFYGNALGGTPNDCKRCPCPNDGACLQINEDTVICTECPKGYFGSRCEQCSDGFFGDPTGLLGEVQTCKSCDCNGNVDPNAVGNCNRTTGECLKCIHNTAGEHCDQCLSGHFGDPLALPHGRCDRCSCYEAGTEQDEQSITRCDQVTGQCQCKPNVIGRDCGECQPGYFNIRSGNGCENCLCDPVGSYNSTCDRYSGQCHCRPGVMGQRCDQCENYFYGFSSEGCKPCECDESGSKGFQCDQNGQCPCNDNVEGRRCDRCKENKYDRHRGCIDCPDCYNLVQDAADLHRAKLFNLSQTLDEIARTPVTNDDEFEAKLKAVQEKVAVLAQDARDNSGDGGQTYAEVIDDLHKHLDSVREHLVSADKFQADANGEIDRARQNYTILDQITENAKKELQQALDLLNDEGAQALARAKEKSVEFGQQSEQISDISREARALADKLESEAQFDLKNAKDAKDAVEKAHQLAKSAIDLQLKIGTELRSEVGLELSHVKQSLGTVVQTSKEALRKANEVYDTALTLLNDVNRQTQPEIDISQLKKDAVAANERADELLKQITELSNSNGELFADFETEQELTEALLKRAEQQQLEDIELLERAKAAHDKATKAVEQGDNTLKEANNTYEKLAGFQSDVQRSSESAEKALQTVPNIEKEIQNAESLISQAEEALDGANKNANEAKKNAQEAQLKYAEQASKDAELIRRKANETKVAARNLREEADQLNHRVKLTEMDIFKLEESSTKDDNLVDDAKRKVGQAKADTQEAQKQIEKANADLTAIKDELENLKDINTGDLDRLENRLATVEGEINRVNLTGRIEKYREQRTIQKNLIDKYDAELRELKDEVQNIGLISKALPDSCFSRNRLEP
UniProt ID: P15215
Variant: L -> P at position 892-892
Variant annotation: in strain: Oregon-R
Protein function: Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components.
Reference sequence:
MKRSRWSHSGSSTARLLLIGVLFASCSTAILGAQRPPINSAGGHELRGTTFMPALECYDPYGRPQKCLPEFINAAYQLQIESTNTCGEQNDNHFCIQTMNQNHKNCEFCKYNDHNPSFLTDLHDPQSPTWWQSETMFEGIQHPNYVNLTLHLGKSYDITYVRILFRSPRPESFTIYKRTSESGPWIPYQFYSATCRDTYSLPDSRAIRKGEGEAHALCTSEYSDISPLRDGEIAFSTLEGRPSGINFERSGELQEWVTATDIRITLDRLNTFGDELFGDSQVLKSYFYAISDIAVGARCKCNGHASKCVPSTGMHGERTLVCECRHNTDGPDCDRCLPLYNDLKWKRSTSTEVNECKACNCNGLADKCFFDANLFNRTGHGGHCLDCRENRDGPNCERCKENFYMRDDGYCVNCACDPVGSRSLQCNSHGKCQCKPGVTGDKCDRCDNNYYQFGPHGCQQCGCDSGGSHQNTPACDTETGICFCKENVEGRRCNECKPGFFNLDKNNRFGCTPCFCYGHTSECMTAPGYSIVSVTSNFNKFKERWTAADLNQREVDIKYNQYSRSIGTTAQGNEHVYFQAPDRFLGDQRASYNRDLKFKLQLVGQVANTGVSDVILEGAGSRISLPIFAQGNGIPDQGVKEYTFRLHEHHDYQWQPSQSARGFLSILSNLTAIKIRATYSVQGEAILDDVELQTAHRGAAGHPATWIEQCTCPEGYLGQFCESCAPGYRHSPARGGPFMPCIPCDCHGHADICDSETGRCICQHNTHGDNCDQCAKGFYGNALGGTPNDCKRCPCPNDGACLQINEDTVICTECPKGYFGSRCEQCSDGFFGDPTGLLGEVQTCKSCDCNGNVDPNAVGNCNRTTGECLKCIHNTAGEHCDQCLSGHFGDPLALPHGRCDRCSCYEAGTEQDEQSITRCDQVTGQCQCKPNVIGRDCGECQPGYFNIRSGNGCENCLCDPVGSYNSTCDRYSGQCHCRPGVMGQRCDQCENYFYGFSSEGCKPCECDESGSKGFQCDQNGQCPCNDNVEGRRCDRCKENKYDRHRGCIDCPDCYNLVQDAADLHRAKLFNLSQTLDEIARTPVTNDDEFEAKLKAVQEKVAVLAQDARDNSGDGGQTYAEVIDDLHKHLDSVREHLVSADKFQADANGEIDRARQNYTILDQITENAKKELQQALDLLNDEGAQALARAKEKSVEFGQQSEQISDISREARALADKLESEAQFDLKNAKDAKDAVEKAHQLAKSAIDLQLKIGTELRSEVGLELSHVKQSLGTVVQTSKEALRKANEVYDTALTLLNDVNRQTQPEIDISQLKKDAVAANERADELLKQITELSNSNGELFADFETEQELTEALLKRAEQQQLEDIELLERAKAAHDKATKAVEQGDNTLKEANNTYEKLAGFQSDVQRSSESAEKALQTVPNIEKEIQNAESLISQAEEALDGANKNANEAKKNAQEAQLKYAEQASKDAELIRRKANETKVAARNLREEADQLNHRVKLTEMDIFKLEESSTKDDNLVDDAKRKVGQAKADTQEAQKQIEKANADLTAIKDELENLKDINTGDLDRLENRLATVEGEINRVNLTGRIEKYREQRTIQKNLIDKYDAELRELKDEVQNIGLISKALPDSCFSRNRLEP
UniProt ID: P15241
Variant: C -> G at position 74-74
Protein function: Wool microfibrillar keratin.
Reference sequence:
CGFSTVGSGFGSRAFSCVSACGPRPGRCCITAAPYRGISCYRGLTGGFGSRSVCGGFRAGSCGRSFGYRSGGVCGPSPPCITTVSVNESLLTPLNLEIDPNAQCVKQEEKEQIKCLNNRFAAFIDKVRFLEQQNKLLETKLQFFQNRQCCESNLEPLFEGYIETLRREAECVEADSGRLSSELNHVQEVLEGYKKKYEQEVALRATAENEFVALKKDVDCAYVRKSDLEANSEALIQEIDFLRRLYQEEIRVLQANISDTSVIVKMDNSRDLNMDCIVAEIKAQYDDIASRSRAEAESWYRSKCEEIKATVIRHGETLRRTKEEINELNRVIQRLTAEVENAKCQNSKLEAAVTQAEQQGEVALNDARCKLAGLEEALQKAKQDMACLLKEYQEVMNSKLGLDIEIATYRRLLEGEEQRLCEGVGAVNVCVSSSRGGVVCGDLCVSGSRPVTGSVCSAPCSGNLAVSTGLCAPCGQLNTTCGGGSCSLGRC
UniProt ID: P15241
Variant: C -> S at position 74-74
Protein function: Wool microfibrillar keratin.
Reference sequence:
CGFSTVGSGFGSRAFSCVSACGPRPGRCCITAAPYRGISCYRGLTGGFGSRSVCGGFRAGSCGRSFGYRSGGVCGPSPPCITTVSVNESLLTPLNLEIDPNAQCVKQEEKEQIKCLNNRFAAFIDKVRFLEQQNKLLETKLQFFQNRQCCESNLEPLFEGYIETLRREAECVEADSGRLSSELNHVQEVLEGYKKKYEQEVALRATAENEFVALKKDVDCAYVRKSDLEANSEALIQEIDFLRRLYQEEIRVLQANISDTSVIVKMDNSRDLNMDCIVAEIKAQYDDIASRSRAEAESWYRSKCEEIKATVIRHGETLRRTKEEINELNRVIQRLTAEVENAKCQNSKLEAAVTQAEQQGEVALNDARCKLAGLEEALQKAKQDMACLLKEYQEVMNSKLGLDIEIATYRRLLEGEEQRLCEGVGAVNVCVSSSRGGVVCGDLCVSGSRPVTGSVCSAPCSGNLAVSTGLCAPCGQLNTTCGGGSCSLGRC
UniProt ID: P15241
Variant: C -> S at position 80-80
Protein function: Wool microfibrillar keratin.
Reference sequence:
CGFSTVGSGFGSRAFSCVSACGPRPGRCCITAAPYRGISCYRGLTGGFGSRSVCGGFRAGSCGRSFGYRSGGVCGPSPPCITTVSVNESLLTPLNLEIDPNAQCVKQEEKEQIKCLNNRFAAFIDKVRFLEQQNKLLETKLQFFQNRQCCESNLEPLFEGYIETLRREAECVEADSGRLSSELNHVQEVLEGYKKKYEQEVALRATAENEFVALKKDVDCAYVRKSDLEANSEALIQEIDFLRRLYQEEIRVLQANISDTSVIVKMDNSRDLNMDCIVAEIKAQYDDIASRSRAEAESWYRSKCEEIKATVIRHGETLRRTKEEINELNRVIQRLTAEVENAKCQNSKLEAAVTQAEQQGEVALNDARCKLAGLEEALQKAKQDMACLLKEYQEVMNSKLGLDIEIATYRRLLEGEEQRLCEGVGAVNVCVSSSRGGVVCGDLCVSGSRPVTGSVCSAPCSGNLAVSTGLCAPCGQLNTTCGGGSCSLGRC
UniProt ID: P15241
Variant: F -> Y at position 144-144
Protein function: Wool microfibrillar keratin.
Reference sequence:
CGFSTVGSGFGSRAFSCVSACGPRPGRCCITAAPYRGISCYRGLTGGFGSRSVCGGFRAGSCGRSFGYRSGGVCGPSPPCITTVSVNESLLTPLNLEIDPNAQCVKQEEKEQIKCLNNRFAAFIDKVRFLEQQNKLLETKLQFFQNRQCCESNLEPLFEGYIETLRREAECVEADSGRLSSELNHVQEVLEGYKKKYEQEVALRATAENEFVALKKDVDCAYVRKSDLEANSEALIQEIDFLRRLYQEEIRVLQANISDTSVIVKMDNSRDLNMDCIVAEIKAQYDDIASRSRAEAESWYRSKCEEIKATVIRHGETLRRTKEEINELNRVIQRLTAEVENAKCQNSKLEAAVTQAEQQGEVALNDARCKLAGLEEALQKAKQDMACLLKEYQEVMNSKLGLDIEIATYRRLLEGEEQRLCEGVGAVNVCVSSSRGGVVCGDLCVSGSRPVTGSVCSAPCSGNLAVSTGLCAPCGQLNTTCGGGSCSLGRC
UniProt ID: P15241
Variant: S -> V at position 232-232
Protein function: Wool microfibrillar keratin.
Reference sequence:
CGFSTVGSGFGSRAFSCVSACGPRPGRCCITAAPYRGISCYRGLTGGFGSRSVCGGFRAGSCGRSFGYRSGGVCGPSPPCITTVSVNESLLTPLNLEIDPNAQCVKQEEKEQIKCLNNRFAAFIDKVRFLEQQNKLLETKLQFFQNRQCCESNLEPLFEGYIETLRREAECVEADSGRLSSELNHVQEVLEGYKKKYEQEVALRATAENEFVALKKDVDCAYVRKSDLEANSEALIQEIDFLRRLYQEEIRVLQANISDTSVIVKMDNSRDLNMDCIVAEIKAQYDDIASRSRAEAESWYRSKCEEIKATVIRHGETLRRTKEEINELNRVIQRLTAEVENAKCQNSKLEAAVTQAEQQGEVALNDARCKLAGLEEALQKAKQDMACLLKEYQEVMNSKLGLDIEIATYRRLLEGEEQRLCEGVGAVNVCVSSSRGGVVCGDLCVSGSRPVTGSVCSAPCSGNLAVSTGLCAPCGQLNTTCGGGSCSLGRC
UniProt ID: P15241
Variant: C -> D at position 276-276
Protein function: Wool microfibrillar keratin.
Reference sequence:
CGFSTVGSGFGSRAFSCVSACGPRPGRCCITAAPYRGISCYRGLTGGFGSRSVCGGFRAGSCGRSFGYRSGGVCGPSPPCITTVSVNESLLTPLNLEIDPNAQCVKQEEKEQIKCLNNRFAAFIDKVRFLEQQNKLLETKLQFFQNRQCCESNLEPLFEGYIETLRREAECVEADSGRLSSELNHVQEVLEGYKKKYEQEVALRATAENEFVALKKDVDCAYVRKSDLEANSEALIQEIDFLRRLYQEEIRVLQANISDTSVIVKMDNSRDLNMDCIVAEIKAQYDDIASRSRAEAESWYRSKCEEIKATVIRHGETLRRTKEEINELNRVIQRLTAEVENAKCQNSKLEAAVTQAEQQGEVALNDARCKLAGLEEALQKAKQDMACLLKEYQEVMNSKLGLDIEIATYRRLLEGEEQRLCEGVGAVNVCVSSSRGGVVCGDLCVSGSRPVTGSVCSAPCSGNLAVSTGLCAPCGQLNTTCGGGSCSLGRC
UniProt ID: P15241
Variant: C -> N at position 276-276
Protein function: Wool microfibrillar keratin.
Reference sequence:
CGFSTVGSGFGSRAFSCVSACGPRPGRCCITAAPYRGISCYRGLTGGFGSRSVCGGFRAGSCGRSFGYRSGGVCGPSPPCITTVSVNESLLTPLNLEIDPNAQCVKQEEKEQIKCLNNRFAAFIDKVRFLEQQNKLLETKLQFFQNRQCCESNLEPLFEGYIETLRREAECVEADSGRLSSELNHVQEVLEGYKKKYEQEVALRATAENEFVALKKDVDCAYVRKSDLEANSEALIQEIDFLRRLYQEEIRVLQANISDTSVIVKMDNSRDLNMDCIVAEIKAQYDDIASRSRAEAESWYRSKCEEIKATVIRHGETLRRTKEEINELNRVIQRLTAEVENAKCQNSKLEAAVTQAEQQGEVALNDARCKLAGLEEALQKAKQDMACLLKEYQEVMNSKLGLDIEIATYRRLLEGEEQRLCEGVGAVNVCVSSSRGGVVCGDLCVSGSRPVTGSVCSAPCSGNLAVSTGLCAPCGQLNTTCGGGSCSLGRC
UniProt ID: P15241
Variant: Q -> H at position 284-284
Protein function: Wool microfibrillar keratin.
Reference sequence:
CGFSTVGSGFGSRAFSCVSACGPRPGRCCITAAPYRGISCYRGLTGGFGSRSVCGGFRAGSCGRSFGYRSGGVCGPSPPCITTVSVNESLLTPLNLEIDPNAQCVKQEEKEQIKCLNNRFAAFIDKVRFLEQQNKLLETKLQFFQNRQCCESNLEPLFEGYIETLRREAECVEADSGRLSSELNHVQEVLEGYKKKYEQEVALRATAENEFVALKKDVDCAYVRKSDLEANSEALIQEIDFLRRLYQEEIRVLQANISDTSVIVKMDNSRDLNMDCIVAEIKAQYDDIASRSRAEAESWYRSKCEEIKATVIRHGETLRRTKEEINELNRVIQRLTAEVENAKCQNSKLEAAVTQAEQQGEVALNDARCKLAGLEEALQKAKQDMACLLKEYQEVMNSKLGLDIEIATYRRLLEGEEQRLCEGVGAVNVCVSSSRGGVVCGDLCVSGSRPVTGSVCSAPCSGNLAVSTGLCAPCGQLNTTCGGGSCSLGRC
UniProt ID: P15248
Variant: T -> M at position 117-117
Variant annotation: in dbSNP:rs2069885
Protein function: Multifunctional cytokine secreted mainly by T-helper 2 lymphocytes and also mast cells or NKT cells that plays important roles in the immune response against parasites . Affects intestinal epithelial permeability and adaptive immunity . In addition, induces the differentiation of specific T-cell subsets such as IL-17 producing helper T-cells (TH17) and also proliferation and differentiation of mast cells. Mechanistically, exerts its biological effects through a receptor composed of IL9R subunit and a signal transducing subunit IL2RG. Receptor stimulation results in the rapid activation of JAK1 and JAK3 kinase activities leading to STAT1, STAT3 and STAT5-mediated transcriptional programs. Induction of differentiation genes seems to be mediated by STAT1 alone, while protection of cells from apoptosis depends on STAT3 and STAT5.
Reference sequence:
MLLAMVLTSALLLCSVAGQGCPTLAGILDINFLINKMQEDPASKCHCSANVTSCLCLGIPSDNCTRPCFSERLSQMTNTTMQTRYPLIFSRVKKSVEVLKNNKCPYFSCEQPCNQTTAGNALTFLKSLLEIFQKEKMRGMRGKI
UniProt ID: P15259
Variant: E -> A at position 89-89
Variant annotation: in GSD10; dbSNP:rs104894030
Protein function: Interconversion of 3- and 2-phosphoglycerate with 2,3-bisphosphoglycerate as the primer of the reaction. Can also catalyze the reaction of EC 5.4.2.4 (synthase), but with a reduced activity.
Reference sequence:
MATHRLVMVRHGESTWNQENRFCGWFDAELSEKGTEEAKRGAKAIKDAKMEFDICYTSVLKRAIRTLWAILDGTDQMWLPVVRTWRLNERHYGGLTGLNKAETAAKHGEEQVKIWRRSFDIPPPPMDEKHPYYNSISKERRYAGLKPGELPTCESLKDTIARALPFWNEEIVPQIKAGKRVLIAAHGNSLRGIVKHLEGMSDQAIMELNLPTGIPIVYELNKELKPTKPMQFLGDEETVRKAMEAVAAQGKAK
UniProt ID: P15259
Variant: R -> W at position 90-90
Variant annotation: in GSD10; dbSNP:rs104894034
Protein function: Interconversion of 3- and 2-phosphoglycerate with 2,3-bisphosphoglycerate as the primer of the reaction. Can also catalyze the reaction of EC 5.4.2.4 (synthase), but with a reduced activity.
Reference sequence:
MATHRLVMVRHGESTWNQENRFCGWFDAELSEKGTEEAKRGAKAIKDAKMEFDICYTSVLKRAIRTLWAILDGTDQMWLPVVRTWRLNERHYGGLTGLNKAETAAKHGEEQVKIWRRSFDIPPPPMDEKHPYYNSISKERRYAGLKPGELPTCESLKDTIARALPFWNEEIVPQIKAGKRVLIAAHGNSLRGIVKHLEGMSDQAIMELNLPTGIPIVYELNKELKPTKPMQFLGDEETVRKAMEAVAAQGKAK
UniProt ID: P15259
Variant: G -> D at position 97-97
Variant annotation: in GSD10; dbSNP:rs77938727
Protein function: Interconversion of 3- and 2-phosphoglycerate with 2,3-bisphosphoglycerate as the primer of the reaction. Can also catalyze the reaction of EC 5.4.2.4 (synthase), but with a reduced activity.
Reference sequence:
MATHRLVMVRHGESTWNQENRFCGWFDAELSEKGTEEAKRGAKAIKDAKMEFDICYTSVLKRAIRTLWAILDGTDQMWLPVVRTWRLNERHYGGLTGLNKAETAAKHGEEQVKIWRRSFDIPPPPMDEKHPYYNSISKERRYAGLKPGELPTCESLKDTIARALPFWNEEIVPQIKAGKRVLIAAHGNSLRGIVKHLEGMSDQAIMELNLPTGIPIVYELNKELKPTKPMQFLGDEETVRKAMEAVAAQGKAK
UniProt ID: P15289
Variant: A -> D at position 18-18
Variant annotation: in MLD; enzyme activity reduced to 5% of wild-type enzyme; dbSNP:rs199476339
Protein function: Hydrolyzes cerebroside sulfate.
Reference sequence:
MGAPRSLLLALAAGLAVARPPNIVLIFADDLGYGDLGCYGHPSSTTPNLDQLAAGGLRFTDFYVPVSLCTPSRAALLTGRLPVRMGMYPGVLVPSSRGGLPLEEVTVAEVLAARGYLTGMAGKWHLGVGPEGAFLPPHQGFHRFLGIPYSHDQGPCQNLTCFPPATPCDGGCDQGLVPIPLLANLSVEAQPPWLPGLEARYMAFAHDLMADAQRQDRPFFLYYASHHTHYPQFSGQSFAERSGRGPFGDSLMELDAAVGTLMTAIGDLGLLEETLVIFTADNGPETMRMSRGGCSGLLRCGKGTTYEGGVREPALAFWPGHIAPGVTHELASSLDLLPTLAALAGAPLPNVTLDGFDLSPLLLGTGKSPRQSLFFYPSYPDEVRGVFAVRTGKYKAHFFTQGSAHSDTTADPACHASSSLTAHEPPLLYDLSKDPGENYNLLGGVAGATPEVLQALKQLQLLKAQLDAAVTFGPSQVARGEDPALQICCHPGCTPRPACCHCPDPHA
UniProt ID: P15289
Variant: D -> N at position 29-29
Variant annotation: in MLD; infantile-onset; causes a severe reduction of enzyme activity; dbSNP:rs199476346
Protein function: Hydrolyzes cerebroside sulfate.
Reference sequence:
MGAPRSLLLALAAGLAVARPPNIVLIFADDLGYGDLGCYGHPSSTTPNLDQLAAGGLRFTDFYVPVSLCTPSRAALLTGRLPVRMGMYPGVLVPSSRGGLPLEEVTVAEVLAARGYLTGMAGKWHLGVGPEGAFLPPHQGFHRFLGIPYSHDQGPCQNLTCFPPATPCDGGCDQGLVPIPLLANLSVEAQPPWLPGLEARYMAFAHDLMADAQRQDRPFFLYYASHHTHYPQFSGQSFAERSGRGPFGDSLMELDAAVGTLMTAIGDLGLLEETLVIFTADNGPETMRMSRGGCSGLLRCGKGTTYEGGVREPALAFWPGHIAPGVTHELASSLDLLPTLAALAGAPLPNVTLDGFDLSPLLLGTGKSPRQSLFFYPSYPDEVRGVFAVRTGKYKAHFFTQGSAHSDTTADPACHASSSLTAHEPPLLYDLSKDPGENYNLLGGVAGATPEVLQALKQLQLLKAQLDAAVTFGPSQVARGEDPALQICCHPGCTPRPACCHCPDPHA
UniProt ID: P15289
Variant: D -> H at position 30-30
Variant annotation: in MLD; enzyme activity reduced to 2.4% of wild-type enzyme; dbSNP:rs199476340
Protein function: Hydrolyzes cerebroside sulfate.
Reference sequence:
MGAPRSLLLALAAGLAVARPPNIVLIFADDLGYGDLGCYGHPSSTTPNLDQLAAGGLRFTDFYVPVSLCTPSRAALLTGRLPVRMGMYPGVLVPSSRGGLPLEEVTVAEVLAARGYLTGMAGKWHLGVGPEGAFLPPHQGFHRFLGIPYSHDQGPCQNLTCFPPATPCDGGCDQGLVPIPLLANLSVEAQPPWLPGLEARYMAFAHDLMADAQRQDRPFFLYYASHHTHYPQFSGQSFAERSGRGPFGDSLMELDAAVGTLMTAIGDLGLLEETLVIFTADNGPETMRMSRGGCSGLLRCGKGTTYEGGVREPALAFWPGHIAPGVTHELASSLDLLPTLAALAGAPLPNVTLDGFDLSPLLLGTGKSPRQSLFFYPSYPDEVRGVFAVRTGKYKAHFFTQGSAHSDTTADPACHASSSLTAHEPPLLYDLSKDPGENYNLLGGVAGATPEVLQALKQLQLLKAQLDAAVTFGPSQVARGEDPALQICCHPGCTPRPACCHCPDPHA
UniProt ID: P15289
Variant: G -> S at position 32-32
Variant annotation: in MLD; late-infantile form; dbSNP:rs199476350
Protein function: Hydrolyzes cerebroside sulfate.
Reference sequence:
MGAPRSLLLALAAGLAVARPPNIVLIFADDLGYGDLGCYGHPSSTTPNLDQLAAGGLRFTDFYVPVSLCTPSRAALLTGRLPVRMGMYPGVLVPSSRGGLPLEEVTVAEVLAARGYLTGMAGKWHLGVGPEGAFLPPHQGFHRFLGIPYSHDQGPCQNLTCFPPATPCDGGCDQGLVPIPLLANLSVEAQPPWLPGLEARYMAFAHDLMADAQRQDRPFFLYYASHHTHYPQFSGQSFAERSGRGPFGDSLMELDAAVGTLMTAIGDLGLLEETLVIFTADNGPETMRMSRGGCSGLLRCGKGTTYEGGVREPALAFWPGHIAPGVTHELASSLDLLPTLAALAGAPLPNVTLDGFDLSPLLLGTGKSPRQSLFFYPSYPDEVRGVFAVRTGKYKAHFFTQGSAHSDTTADPACHASSSLTAHEPPLLYDLSKDPGENYNLLGGVAGATPEVLQALKQLQLLKAQLDAAVTFGPSQVARGEDPALQICCHPGCTPRPACCHCPDPHA
UniProt ID: P15289
Variant: L -> P at position 52-52
Variant annotation: in MLD; loss of enzymatic activity; dbSNP:rs199476357
Effect: loss
Target: enzymatic activity
Protein function: Hydrolyzes cerebroside sulfate.
Reference sequence:
MGAPRSLLLALAAGLAVARPPNIVLIFADDLGYGDLGCYGHPSSTTPNLDQLAAGGLRFTDFYVPVSLCTPSRAALLTGRLPVRMGMYPGVLVPSSRGGLPLEEVTVAEVLAARGYLTGMAGKWHLGVGPEGAFLPPHQGFHRFLGIPYSHDQGPCQNLTCFPPATPCDGGCDQGLVPIPLLANLSVEAQPPWLPGLEARYMAFAHDLMADAQRQDRPFFLYYASHHTHYPQFSGQSFAERSGRGPFGDSLMELDAAVGTLMTAIGDLGLLEETLVIFTADNGPETMRMSRGGCSGLLRCGKGTTYEGGVREPALAFWPGHIAPGVTHELASSLDLLPTLAALAGAPLPNVTLDGFDLSPLLLGTGKSPRQSLFFYPSYPDEVRGVFAVRTGKYKAHFFTQGSAHSDTTADPACHASSSLTAHEPPLLYDLSKDPGENYNLLGGVAGATPEVLQALKQLQLLKAQLDAAVTFGPSQVARGEDPALQICCHPGCTPRPACCHCPDPHA
UniProt ID: P15289
Variant: L -> P at position 68-68
Variant annotation: in MLD; late-infantile form; dbSNP:rs199476351
Protein function: Hydrolyzes cerebroside sulfate.
Reference sequence:
MGAPRSLLLALAAGLAVARPPNIVLIFADDLGYGDLGCYGHPSSTTPNLDQLAAGGLRFTDFYVPVSLCTPSRAALLTGRLPVRMGMYPGVLVPSSRGGLPLEEVTVAEVLAARGYLTGMAGKWHLGVGPEGAFLPPHQGFHRFLGIPYSHDQGPCQNLTCFPPATPCDGGCDQGLVPIPLLANLSVEAQPPWLPGLEARYMAFAHDLMADAQRQDRPFFLYYASHHTHYPQFSGQSFAERSGRGPFGDSLMELDAAVGTLMTAIGDLGLLEETLVIFTADNGPETMRMSRGGCSGLLRCGKGTTYEGGVREPALAFWPGHIAPGVTHELASSLDLLPTLAALAGAPLPNVTLDGFDLSPLLLGTGKSPRQSLFFYPSYPDEVRGVFAVRTGKYKAHFFTQGSAHSDTTADPACHASSSLTAHEPPLLYDLSKDPGENYNLLGGVAGATPEVLQALKQLQLLKAQLDAAVTFGPSQVARGEDPALQICCHPGCTPRPACCHCPDPHA
UniProt ID: P15289
Variant: L -> P at position 76-76
Variant annotation: in dbSNP:rs199476362
Protein function: Hydrolyzes cerebroside sulfate.
Reference sequence:
MGAPRSLLLALAAGLAVARPPNIVLIFADDLGYGDLGCYGHPSSTTPNLDQLAAGGLRFTDFYVPVSLCTPSRAALLTGRLPVRMGMYPGVLVPSSRGGLPLEEVTVAEVLAARGYLTGMAGKWHLGVGPEGAFLPPHQGFHRFLGIPYSHDQGPCQNLTCFPPATPCDGGCDQGLVPIPLLANLSVEAQPPWLPGLEARYMAFAHDLMADAQRQDRPFFLYYASHHTHYPQFSGQSFAERSGRGPFGDSLMELDAAVGTLMTAIGDLGLLEETLVIFTADNGPETMRMSRGGCSGLLRCGKGTTYEGGVREPALAFWPGHIAPGVTHELASSLDLLPTLAALAGAPLPNVTLDGFDLSPLLLGTGKSPRQSLFFYPSYPDEVRGVFAVRTGKYKAHFFTQGSAHSDTTADPACHASSSLTAHEPPLLYDLSKDPGENYNLLGGVAGATPEVLQALKQLQLLKAQLDAAVTFGPSQVARGEDPALQICCHPGCTPRPACCHCPDPHA
UniProt ID: P15289
Variant: P -> L at position 82-82
Variant annotation: in MLD; late-infantile-onset; dbSNP:rs6151411
Protein function: Hydrolyzes cerebroside sulfate.
Reference sequence:
MGAPRSLLLALAAGLAVARPPNIVLIFADDLGYGDLGCYGHPSSTTPNLDQLAAGGLRFTDFYVPVSLCTPSRAALLTGRLPVRMGMYPGVLVPSSRGGLPLEEVTVAEVLAARGYLTGMAGKWHLGVGPEGAFLPPHQGFHRFLGIPYSHDQGPCQNLTCFPPATPCDGGCDQGLVPIPLLANLSVEAQPPWLPGLEARYMAFAHDLMADAQRQDRPFFLYYASHHTHYPQFSGQSFAERSGRGPFGDSLMELDAAVGTLMTAIGDLGLLEETLVIFTADNGPETMRMSRGGCSGLLRCGKGTTYEGGVREPALAFWPGHIAPGVTHELASSLDLLPTLAALAGAPLPNVTLDGFDLSPLLLGTGKSPRQSLFFYPSYPDEVRGVFAVRTGKYKAHFFTQGSAHSDTTADPACHASSSLTAHEPPLLYDLSKDPGENYNLLGGVAGATPEVLQALKQLQLLKAQLDAAVTFGPSQVARGEDPALQICCHPGCTPRPACCHCPDPHA
UniProt ID: P15289
Variant: R -> Q at position 84-84
Variant annotation: in MLD; mild; dbSNP:rs74315458
Protein function: Hydrolyzes cerebroside sulfate.
Reference sequence:
MGAPRSLLLALAAGLAVARPPNIVLIFADDLGYGDLGCYGHPSSTTPNLDQLAAGGLRFTDFYVPVSLCTPSRAALLTGRLPVRMGMYPGVLVPSSRGGLPLEEVTVAEVLAARGYLTGMAGKWHLGVGPEGAFLPPHQGFHRFLGIPYSHDQGPCQNLTCFPPATPCDGGCDQGLVPIPLLANLSVEAQPPWLPGLEARYMAFAHDLMADAQRQDRPFFLYYASHHTHYPQFSGQSFAERSGRGPFGDSLMELDAAVGTLMTAIGDLGLLEETLVIFTADNGPETMRMSRGGCSGLLRCGKGTTYEGGVREPALAFWPGHIAPGVTHELASSLDLLPTLAALAGAPLPNVTLDGFDLSPLLLGTGKSPRQSLFFYPSYPDEVRGVFAVRTGKYKAHFFTQGSAHSDTTADPACHASSSLTAHEPPLLYDLSKDPGENYNLLGGVAGATPEVLQALKQLQLLKAQLDAAVTFGPSQVARGEDPALQICCHPGCTPRPACCHCPDPHA
UniProt ID: P15289
Variant: R -> W at position 84-84
Variant annotation: in MLD; juvenile form; dbSNP:rs199476352
Protein function: Hydrolyzes cerebroside sulfate.
Reference sequence:
MGAPRSLLLALAAGLAVARPPNIVLIFADDLGYGDLGCYGHPSSTTPNLDQLAAGGLRFTDFYVPVSLCTPSRAALLTGRLPVRMGMYPGVLVPSSRGGLPLEEVTVAEVLAARGYLTGMAGKWHLGVGPEGAFLPPHQGFHRFLGIPYSHDQGPCQNLTCFPPATPCDGGCDQGLVPIPLLANLSVEAQPPWLPGLEARYMAFAHDLMADAQRQDRPFFLYYASHHTHYPQFSGQSFAERSGRGPFGDSLMELDAAVGTLMTAIGDLGLLEETLVIFTADNGPETMRMSRGGCSGLLRCGKGTTYEGGVREPALAFWPGHIAPGVTHELASSLDLLPTLAALAGAPLPNVTLDGFDLSPLLLGTGKSPRQSLFFYPSYPDEVRGVFAVRTGKYKAHFFTQGSAHSDTTADPACHASSSLTAHEPPLLYDLSKDPGENYNLLGGVAGATPEVLQALKQLQLLKAQLDAAVTFGPSQVARGEDPALQICCHPGCTPRPACCHCPDPHA
UniProt ID: P15289
Variant: G -> D at position 86-86
Variant annotation: in MLD; severe; no enzyme residual activity; leads to a decreased stability of the mutant enzyme; causes an arrest of the mutant enzyme polypeptide in a prelysosomal compartment; dbSNP:rs74315460
Protein function: Hydrolyzes cerebroside sulfate.
Reference sequence:
MGAPRSLLLALAAGLAVARPPNIVLIFADDLGYGDLGCYGHPSSTTPNLDQLAAGGLRFTDFYVPVSLCTPSRAALLTGRLPVRMGMYPGVLVPSSRGGLPLEEVTVAEVLAARGYLTGMAGKWHLGVGPEGAFLPPHQGFHRFLGIPYSHDQGPCQNLTCFPPATPCDGGCDQGLVPIPLLANLSVEAQPPWLPGLEARYMAFAHDLMADAQRQDRPFFLYYASHHTHYPQFSGQSFAERSGRGPFGDSLMELDAAVGTLMTAIGDLGLLEETLVIFTADNGPETMRMSRGGCSGLLRCGKGTTYEGGVREPALAFWPGHIAPGVTHELASSLDLLPTLAALAGAPLPNVTLDGFDLSPLLLGTGKSPRQSLFFYPSYPDEVRGVFAVRTGKYKAHFFTQGSAHSDTTADPACHASSSLTAHEPPLLYDLSKDPGENYNLLGGVAGATPEVLQALKQLQLLKAQLDAAVTFGPSQVARGEDPALQICCHPGCTPRPACCHCPDPHA
UniProt ID: P15289
Variant: P -> A at position 94-94
Variant annotation: in MLD; adult form; dbSNP:rs199476353
Protein function: Hydrolyzes cerebroside sulfate.
Reference sequence:
MGAPRSLLLALAAGLAVARPPNIVLIFADDLGYGDLGCYGHPSSTTPNLDQLAAGGLRFTDFYVPVSLCTPSRAALLTGRLPVRMGMYPGVLVPSSRGGLPLEEVTVAEVLAARGYLTGMAGKWHLGVGPEGAFLPPHQGFHRFLGIPYSHDQGPCQNLTCFPPATPCDGGCDQGLVPIPLLANLSVEAQPPWLPGLEARYMAFAHDLMADAQRQDRPFFLYYASHHTHYPQFSGQSFAERSGRGPFGDSLMELDAAVGTLMTAIGDLGLLEETLVIFTADNGPETMRMSRGGCSGLLRCGKGTTYEGGVREPALAFWPGHIAPGVTHELASSLDLLPTLAALAGAPLPNVTLDGFDLSPLLLGTGKSPRQSLFFYPSYPDEVRGVFAVRTGKYKAHFFTQGSAHSDTTADPACHASSSLTAHEPPLLYDLSKDPGENYNLLGGVAGATPEVLQALKQLQLLKAQLDAAVTFGPSQVARGEDPALQICCHPGCTPRPACCHCPDPHA
UniProt ID: P15289
Variant: S -> N at position 95-95
Variant annotation: in MLD; dbSNP:rs199476363
Protein function: Hydrolyzes cerebroside sulfate.
Reference sequence:
MGAPRSLLLALAAGLAVARPPNIVLIFADDLGYGDLGCYGHPSSTTPNLDQLAAGGLRFTDFYVPVSLCTPSRAALLTGRLPVRMGMYPGVLVPSSRGGLPLEEVTVAEVLAARGYLTGMAGKWHLGVGPEGAFLPPHQGFHRFLGIPYSHDQGPCQNLTCFPPATPCDGGCDQGLVPIPLLANLSVEAQPPWLPGLEARYMAFAHDLMADAQRQDRPFFLYYASHHTHYPQFSGQSFAERSGRGPFGDSLMELDAAVGTLMTAIGDLGLLEETLVIFTADNGPETMRMSRGGCSGLLRCGKGTTYEGGVREPALAFWPGHIAPGVTHELASSLDLLPTLAALAGAPLPNVTLDGFDLSPLLLGTGKSPRQSLFFYPSYPDEVRGVFAVRTGKYKAHFFTQGSAHSDTTADPACHASSSLTAHEPPLLYDLSKDPGENYNLLGGVAGATPEVLQALKQLQLLKAQLDAAVTFGPSQVARGEDPALQICCHPGCTPRPACCHCPDPHA
UniProt ID: P15289
Variant: S -> F at position 96-96
Variant annotation: in MLD; severe; dbSNP:rs74315456
Protein function: Hydrolyzes cerebroside sulfate.
Reference sequence:
MGAPRSLLLALAAGLAVARPPNIVLIFADDLGYGDLGCYGHPSSTTPNLDQLAAGGLRFTDFYVPVSLCTPSRAALLTGRLPVRMGMYPGVLVPSSRGGLPLEEVTVAEVLAARGYLTGMAGKWHLGVGPEGAFLPPHQGFHRFLGIPYSHDQGPCQNLTCFPPATPCDGGCDQGLVPIPLLANLSVEAQPPWLPGLEARYMAFAHDLMADAQRQDRPFFLYYASHHTHYPQFSGQSFAERSGRGPFGDSLMELDAAVGTLMTAIGDLGLLEETLVIFTADNGPETMRMSRGGCSGLLRCGKGTTYEGGVREPALAFWPGHIAPGVTHELASSLDLLPTLAALAGAPLPNVTLDGFDLSPLLLGTGKSPRQSLFFYPSYPDEVRGVFAVRTGKYKAHFFTQGSAHSDTTADPACHASSSLTAHEPPLLYDLSKDPGENYNLLGGVAGATPEVLQALKQLQLLKAQLDAAVTFGPSQVARGEDPALQICCHPGCTPRPACCHCPDPHA
UniProt ID: P15289
Variant: S -> L at position 96-96
Variant annotation: in MLD; severe; no enzyme residual activity; dbSNP:rs199476371
Protein function: Hydrolyzes cerebroside sulfate.
Reference sequence:
MGAPRSLLLALAAGLAVARPPNIVLIFADDLGYGDLGCYGHPSSTTPNLDQLAAGGLRFTDFYVPVSLCTPSRAALLTGRLPVRMGMYPGVLVPSSRGGLPLEEVTVAEVLAARGYLTGMAGKWHLGVGPEGAFLPPHQGFHRFLGIPYSHDQGPCQNLTCFPPATPCDGGCDQGLVPIPLLANLSVEAQPPWLPGLEARYMAFAHDLMADAQRQDRPFFLYYASHHTHYPQFSGQSFAERSGRGPFGDSLMELDAAVGTLMTAIGDLGLLEETLVIFTADNGPETMRMSRGGCSGLLRCGKGTTYEGGVREPALAFWPGHIAPGVTHELASSLDLLPTLAALAGAPLPNVTLDGFDLSPLLLGTGKSPRQSLFFYPSYPDEVRGVFAVRTGKYKAHFFTQGSAHSDTTADPACHASSSLTAHEPPLLYDLSKDPGENYNLLGGVAGATPEVLQALKQLQLLKAQLDAAVTFGPSQVARGEDPALQICCHPGCTPRPACCHCPDPHA
UniProt ID: P15289
Variant: G -> D at position 99-99
Variant annotation: in MLD; adult type; dbSNP:rs74315455
Protein function: Hydrolyzes cerebroside sulfate.
Reference sequence:
MGAPRSLLLALAAGLAVARPPNIVLIFADDLGYGDLGCYGHPSSTTPNLDQLAAGGLRFTDFYVPVSLCTPSRAALLTGRLPVRMGMYPGVLVPSSRGGLPLEEVTVAEVLAARGYLTGMAGKWHLGVGPEGAFLPPHQGFHRFLGIPYSHDQGPCQNLTCFPPATPCDGGCDQGLVPIPLLANLSVEAQPPWLPGLEARYMAFAHDLMADAQRQDRPFFLYYASHHTHYPQFSGQSFAERSGRGPFGDSLMELDAAVGTLMTAIGDLGLLEETLVIFTADNGPETMRMSRGGCSGLLRCGKGTTYEGGVREPALAFWPGHIAPGVTHELASSLDLLPTLAALAGAPLPNVTLDGFDLSPLLLGTGKSPRQSLFFYPSYPDEVRGVFAVRTGKYKAHFFTQGSAHSDTTADPACHASSSLTAHEPPLLYDLSKDPGENYNLLGGVAGATPEVLQALKQLQLLKAQLDAAVTFGPSQVARGEDPALQICCHPGCTPRPACCHCPDPHA
UniProt ID: P15289
Variant: G -> V at position 99-99
Variant annotation: in MLD; late-infantile form; dbSNP:rs74315455
Protein function: Hydrolyzes cerebroside sulfate.
Reference sequence:
MGAPRSLLLALAAGLAVARPPNIVLIFADDLGYGDLGCYGHPSSTTPNLDQLAAGGLRFTDFYVPVSLCTPSRAALLTGRLPVRMGMYPGVLVPSSRGGLPLEEVTVAEVLAARGYLTGMAGKWHLGVGPEGAFLPPHQGFHRFLGIPYSHDQGPCQNLTCFPPATPCDGGCDQGLVPIPLLANLSVEAQPPWLPGLEARYMAFAHDLMADAQRQDRPFFLYYASHHTHYPQFSGQSFAERSGRGPFGDSLMELDAAVGTLMTAIGDLGLLEETLVIFTADNGPETMRMSRGGCSGLLRCGKGTTYEGGVREPALAFWPGHIAPGVTHELASSLDLLPTLAALAGAPLPNVTLDGFDLSPLLLGTGKSPRQSLFFYPSYPDEVRGVFAVRTGKYKAHFFTQGSAHSDTTADPACHASSSLTAHEPPLLYDLSKDPGENYNLLGGVAGATPEVLQALKQLQLLKAQLDAAVTFGPSQVARGEDPALQICCHPGCTPRPACCHCPDPHA