sujigwak/NVAR huggingface dataset:
UniProt ID: P10745
Variant: S -> Y at position 1021-1021
Variant annotation: in dbSNP:rs148591757
Protein function: IRBP shuttles 11-cis and all trans retinoids between the retinol isomerase in the pigment epithelium and the visual pigments in the photoreceptor cells of the retina.
Reference sequence:
MMREWVLLMSVLLCGLAGPTHLFQPSLVLDMAKVLLDNYCFPENLLGMQEAIQQAIKSHEILSISDPQTLASVLTAGVQSSLNDPRLVISYEPSTPEPPPQVPALTSLSEEELLAWLQRGLRHEVLEGNVGYLRVDSVPGQEVLSMMGEFLVAHVWGNLMGTSALVLDLRHCTGGQVSGIPYIISYLHPGNTILHVDTIYNRPSNTTTEIWTLPQVLGERYGADKDVVVLTSSQTRGVAEDIAHILKQMRRAIVVGERTGGGALDLRKLRIGESDFFFTVPVSRSLGPLGGGSQTWEGSGVLPCVGTPAEQALEKALAILTLRSALPGVVHCLQEVLKDYYTLVDRVPTLLQHLASMDFSTVVSEEDLVTKLNAGLQAASEDPRLLVRAIGPTETPSWPAPDAAAEDSPGVAPELPEDEAIRQALVDSVFQVSVLPGNVGYLRFDSFADASVLGVLAPYVLRQVWEPLQDTEHLIMDLRHNPGGPSSAVPLLLSYFQGPEAGPVHLFTTYDRRTNITQEHFSHMELPGPRYSTQRGVYLLTSHRTATAAEEFAFLMQSLGWATLVGEITAGNLLHTRTVPLLDTPEGSLALTVPVLTFIDNHGEAWLGGGVVPDAIVLAEEALDKAQEVLEFHQSLGALVEGTGHLLEAHYARPEVVGQTSALLRAKLAQGAYRTAVDLESLASQLTADLQEVSGDHRLLVFHSPGELVVEEAPPPPPAVPSPEELTYLIEALFKTEVLPGQLGYLRFDAMAELETVKAVGPQLVRLVWQQLVDTAALVIDLRYNPGSYSTAIPLLCSYFFEAEPRQHLYSVFDRATSKVTEVWTLPQVAGQRYGSHKDLYILMSHTSGSAAEAFAHTMQDLQRATVIGEPTAGGALSVGIYQVGSSPLYASMPTQMAMSATTGKAWDLAGVEPDITVPMSEALSIAQDIVALRAKVPTVLQTAGKLVADNYASAELGAKMATKLSGLQSRYSRVTSEVALAEILGADLQMLSGDPHLKAAHIPENAKDRIPGIVPMQIPSPEVFEELIKFSFHTNVLEDNIGYLRFDMFGDGELLTQVSRLLVEHIWKKIMHTDAMIIDMRFNIGGPTSSIPILCSYFFDEGPPVLLDKIYSRPDDSVSELWTHAQVVGERYGSKKSMVILTSSVTAGTAEEFTYIMKRLGRALVIGEVTSGGCQPPQTYHVDDTNLYLTIPTARSVGASDGSSWEGVGVTPHVVVPAEEALARAKEMLQHNQLRVKRSPGLQDHL
UniProt ID: P10745
Variant: V -> I at position 1059-1059
Variant annotation: in dbSNP:rs864622002
Protein function: IRBP shuttles 11-cis and all trans retinoids between the retinol isomerase in the pigment epithelium and the visual pigments in the photoreceptor cells of the retina.
Reference sequence:
MMREWVLLMSVLLCGLAGPTHLFQPSLVLDMAKVLLDNYCFPENLLGMQEAIQQAIKSHEILSISDPQTLASVLTAGVQSSLNDPRLVISYEPSTPEPPPQVPALTSLSEEELLAWLQRGLRHEVLEGNVGYLRVDSVPGQEVLSMMGEFLVAHVWGNLMGTSALVLDLRHCTGGQVSGIPYIISYLHPGNTILHVDTIYNRPSNTTTEIWTLPQVLGERYGADKDVVVLTSSQTRGVAEDIAHILKQMRRAIVVGERTGGGALDLRKLRIGESDFFFTVPVSRSLGPLGGGSQTWEGSGVLPCVGTPAEQALEKALAILTLRSALPGVVHCLQEVLKDYYTLVDRVPTLLQHLASMDFSTVVSEEDLVTKLNAGLQAASEDPRLLVRAIGPTETPSWPAPDAAAEDSPGVAPELPEDEAIRQALVDSVFQVSVLPGNVGYLRFDSFADASVLGVLAPYVLRQVWEPLQDTEHLIMDLRHNPGGPSSAVPLLLSYFQGPEAGPVHLFTTYDRRTNITQEHFSHMELPGPRYSTQRGVYLLTSHRTATAAEEFAFLMQSLGWATLVGEITAGNLLHTRTVPLLDTPEGSLALTVPVLTFIDNHGEAWLGGGVVPDAIVLAEEALDKAQEVLEFHQSLGALVEGTGHLLEAHYARPEVVGQTSALLRAKLAQGAYRTAVDLESLASQLTADLQEVSGDHRLLVFHSPGELVVEEAPPPPPAVPSPEELTYLIEALFKTEVLPGQLGYLRFDAMAELETVKAVGPQLVRLVWQQLVDTAALVIDLRYNPGSYSTAIPLLCSYFFEAEPRQHLYSVFDRATSKVTEVWTLPQVAGQRYGSHKDLYILMSHTSGSAAEAFAHTMQDLQRATVIGEPTAGGALSVGIYQVGSSPLYASMPTQMAMSATTGKAWDLAGVEPDITVPMSEALSIAQDIVALRAKVPTVLQTAGKLVADNYASAELGAKMATKLSGLQSRYSRVTSEVALAEILGADLQMLSGDPHLKAAHIPENAKDRIPGIVPMQIPSPEVFEELIKFSFHTNVLEDNIGYLRFDMFGDGELLTQVSRLLVEHIWKKIMHTDAMIIDMRFNIGGPTSSIPILCSYFFDEGPPVLLDKIYSRPDDSVSELWTHAQVVGERYGSKKSMVILTSSVTAGTAEEFTYIMKRLGRALVIGEVTSGGCQPPQTYHVDDTNLYLTIPTARSVGASDGSSWEGVGVTPHVVVPAEEALARAKEMLQHNQLRVKRSPGLQDHL
UniProt ID: P10745
Variant: D -> N at position 1080-1080
Variant annotation: in RP66; abolishes secretion; results in mis-folded insoluble complexes degraded via the ER-associated protein catabolic process; dbSNP:rs146150511
Protein function: IRBP shuttles 11-cis and all trans retinoids between the retinol isomerase in the pigment epithelium and the visual pigments in the photoreceptor cells of the retina.
Reference sequence:
MMREWVLLMSVLLCGLAGPTHLFQPSLVLDMAKVLLDNYCFPENLLGMQEAIQQAIKSHEILSISDPQTLASVLTAGVQSSLNDPRLVISYEPSTPEPPPQVPALTSLSEEELLAWLQRGLRHEVLEGNVGYLRVDSVPGQEVLSMMGEFLVAHVWGNLMGTSALVLDLRHCTGGQVSGIPYIISYLHPGNTILHVDTIYNRPSNTTTEIWTLPQVLGERYGADKDVVVLTSSQTRGVAEDIAHILKQMRRAIVVGERTGGGALDLRKLRIGESDFFFTVPVSRSLGPLGGGSQTWEGSGVLPCVGTPAEQALEKALAILTLRSALPGVVHCLQEVLKDYYTLVDRVPTLLQHLASMDFSTVVSEEDLVTKLNAGLQAASEDPRLLVRAIGPTETPSWPAPDAAAEDSPGVAPELPEDEAIRQALVDSVFQVSVLPGNVGYLRFDSFADASVLGVLAPYVLRQVWEPLQDTEHLIMDLRHNPGGPSSAVPLLLSYFQGPEAGPVHLFTTYDRRTNITQEHFSHMELPGPRYSTQRGVYLLTSHRTATAAEEFAFLMQSLGWATLVGEITAGNLLHTRTVPLLDTPEGSLALTVPVLTFIDNHGEAWLGGGVVPDAIVLAEEALDKAQEVLEFHQSLGALVEGTGHLLEAHYARPEVVGQTSALLRAKLAQGAYRTAVDLESLASQLTADLQEVSGDHRLLVFHSPGELVVEEAPPPPPAVPSPEELTYLIEALFKTEVLPGQLGYLRFDAMAELETVKAVGPQLVRLVWQQLVDTAALVIDLRYNPGSYSTAIPLLCSYFFEAEPRQHLYSVFDRATSKVTEVWTLPQVAGQRYGSHKDLYILMSHTSGSAAEAFAHTMQDLQRATVIGEPTAGGALSVGIYQVGSSPLYASMPTQMAMSATTGKAWDLAGVEPDITVPMSEALSIAQDIVALRAKVPTVLQTAGKLVADNYASAELGAKMATKLSGLQSRYSRVTSEVALAEILGADLQMLSGDPHLKAAHIPENAKDRIPGIVPMQIPSPEVFEELIKFSFHTNVLEDNIGYLRFDMFGDGELLTQVSRLLVEHIWKKIMHTDAMIIDMRFNIGGPTSSIPILCSYFFDEGPPVLLDKIYSRPDDSVSELWTHAQVVGERYGSKKSMVILTSSVTAGTAEEFTYIMKRLGRALVIGEVTSGGCQPPQTYHVDDTNLYLTIPTARSVGASDGSSWEGVGVTPHVVVPAEEALARAKEMLQHNQLRVKRSPGLQDHL
UniProt ID: P10745
Variant: T -> M at position 1194-1194
Variant annotation: in dbSNP:rs782099994
Protein function: IRBP shuttles 11-cis and all trans retinoids between the retinol isomerase in the pigment epithelium and the visual pigments in the photoreceptor cells of the retina.
Reference sequence:
MMREWVLLMSVLLCGLAGPTHLFQPSLVLDMAKVLLDNYCFPENLLGMQEAIQQAIKSHEILSISDPQTLASVLTAGVQSSLNDPRLVISYEPSTPEPPPQVPALTSLSEEELLAWLQRGLRHEVLEGNVGYLRVDSVPGQEVLSMMGEFLVAHVWGNLMGTSALVLDLRHCTGGQVSGIPYIISYLHPGNTILHVDTIYNRPSNTTTEIWTLPQVLGERYGADKDVVVLTSSQTRGVAEDIAHILKQMRRAIVVGERTGGGALDLRKLRIGESDFFFTVPVSRSLGPLGGGSQTWEGSGVLPCVGTPAEQALEKALAILTLRSALPGVVHCLQEVLKDYYTLVDRVPTLLQHLASMDFSTVVSEEDLVTKLNAGLQAASEDPRLLVRAIGPTETPSWPAPDAAAEDSPGVAPELPEDEAIRQALVDSVFQVSVLPGNVGYLRFDSFADASVLGVLAPYVLRQVWEPLQDTEHLIMDLRHNPGGPSSAVPLLLSYFQGPEAGPVHLFTTYDRRTNITQEHFSHMELPGPRYSTQRGVYLLTSHRTATAAEEFAFLMQSLGWATLVGEITAGNLLHTRTVPLLDTPEGSLALTVPVLTFIDNHGEAWLGGGVVPDAIVLAEEALDKAQEVLEFHQSLGALVEGTGHLLEAHYARPEVVGQTSALLRAKLAQGAYRTAVDLESLASQLTADLQEVSGDHRLLVFHSPGELVVEEAPPPPPAVPSPEELTYLIEALFKTEVLPGQLGYLRFDAMAELETVKAVGPQLVRLVWQQLVDTAALVIDLRYNPGSYSTAIPLLCSYFFEAEPRQHLYSVFDRATSKVTEVWTLPQVAGQRYGSHKDLYILMSHTSGSAAEAFAHTMQDLQRATVIGEPTAGGALSVGIYQVGSSPLYASMPTQMAMSATTGKAWDLAGVEPDITVPMSEALSIAQDIVALRAKVPTVLQTAGKLVADNYASAELGAKMATKLSGLQSRYSRVTSEVALAEILGADLQMLSGDPHLKAAHIPENAKDRIPGIVPMQIPSPEVFEELIKFSFHTNVLEDNIGYLRFDMFGDGELLTQVSRLLVEHIWKKIMHTDAMIIDMRFNIGGPTSSIPILCSYFFDEGPPVLLDKIYSRPDDSVSELWTHAQVVGERYGSKKSMVILTSSVTAGTAEEFTYIMKRLGRALVIGEVTSGGCQPPQTYHVDDTNLYLTIPTARSVGASDGSSWEGVGVTPHVVVPAEEALARAKEMLQHNQLRVKRSPGLQDHL
UniProt ID: P10747
Variant: G -> R at position 18-18
Variant annotation: in IMD123; likely pathogenic; the underlying nucleotide substitution affects splicing; patient-derived cells contain normally spliced transcripts with the missense variant and aberrant splice transcripts that probably undergo nonsense-mediated decay; significantly decreased CD28 mRNA levels in homozygous patient-derived T cells compared to controls; decreased function in T cell activation
Protein function: Involved in T-cell activation, the induction of cell proliferation and cytokine production and promotion of T-cell survival. Enhances the production of IL4 and IL10 in T-cells in conjunction with TCR/CD3 ligation and CD40L costimulation . Isoform 3 enhances CD40L-mediated activation of NF-kappa-B and kinases MAPK8 and PAK2 in T-cells .
Reference sequence:
MLRLLLALNLFPSIQVTGNKILVKQSPMLVAYDNAVNLSCKYSYNLFSREFRASLHKGLDSAVEVCVVYGNYSQQLQVYSKTGFNCDGKLGNESVTFYLQNLYVNQTDIYFCKIEVMYPPPYLDNEKSNGTIIHVKGKHLCPSPLFPGPSKPFWVLVVVGGVLACYSLLVTVAFIIFWVRSKRSRLLHSDYMNMTPRRPGPTRKHYQPYAPPRDFAAYRS
UniProt ID: P10767
Variant: V -> A at position 36-36
Variant annotation: in dbSNP:rs11613495
Protein function: Plays an important role in the regulation of cell proliferation, cell differentiation, angiogenesis and myogenesis, and is required for normal muscle regeneration.
Reference sequence:
MALGQKLFITMSRGAGRLQGTLWALVFLGILVGMVVPSPAGTRANNTLLDSRGWGTLLSRSRAGLAGEIAGVNWESGYLVGIKRQRRLYCNVGIGFHLQVLPDGRISGTHEENPYSLLEISTVERGVVSLFGVRSALFVAMNSKGRLYATPSFQEECKFRETLLPNNYNAYESDLYQGTYIALSKYGRVKRGSKVSPIMTVTHFLPRI
UniProt ID: P10767
Variant: A -> V at position 63-63
Variant annotation: in dbSNP:rs17183529
Protein function: Plays an important role in the regulation of cell proliferation, cell differentiation, angiogenesis and myogenesis, and is required for normal muscle regeneration.
Reference sequence:
MALGQKLFITMSRGAGRLQGTLWALVFLGILVGMVVPSPAGTRANNTLLDSRGWGTLLSRSRAGLAGEIAGVNWESGYLVGIKRQRRLYCNVGIGFHLQVLPDGRISGTHEENPYSLLEISTVERGVVSLFGVRSALFVAMNSKGRLYATPSFQEECKFRETLLPNNYNAYESDLYQGTYIALSKYGRVKRGSKVSPIMTVTHFLPRI
UniProt ID: P10767
Variant: D -> V at position 174-174
Variant annotation: in dbSNP:rs7961645
Protein function: Plays an important role in the regulation of cell proliferation, cell differentiation, angiogenesis and myogenesis, and is required for normal muscle regeneration.
Reference sequence:
MALGQKLFITMSRGAGRLQGTLWALVFLGILVGMVVPSPAGTRANNTLLDSRGWGTLLSRSRAGLAGEIAGVNWESGYLVGIKRQRRLYCNVGIGFHLQVLPDGRISGTHEENPYSLLEISTVERGVVSLFGVRSALFVAMNSKGRLYATPSFQEECKFRETLLPNNYNAYESDLYQGTYIALSKYGRVKRGSKVSPIMTVTHFLPRI
UniProt ID: P10767
Variant: R -> W at position 191-191
Variant annotation: in dbSNP:rs17183778
Protein function: Plays an important role in the regulation of cell proliferation, cell differentiation, angiogenesis and myogenesis, and is required for normal muscle regeneration.
Reference sequence:
MALGQKLFITMSRGAGRLQGTLWALVFLGILVGMVVPSPAGTRANNTLLDSRGWGTLLSRSRAGLAGEIAGVNWESGYLVGIKRQRRLYCNVGIGFHLQVLPDGRISGTHEENPYSLLEISTVERGVVSLFGVRSALFVAMNSKGRLYATPSFQEECKFRETLLPNNYNAYESDLYQGTYIALSKYGRVKRGSKVSPIMTVTHFLPRI
UniProt ID: P10768
Variant: G -> E at position 190-190
Variant annotation: in allele ESD*2; dbSNP:rs9778
Protein function: Serine hydrolase involved in the detoxification of formaldehyde.
Reference sequence:
MALKQISSNKCFGGLQKVFEHDSVELNCKMKFAVYLPPKAETGKCPALYWLSGLTCTEQNFISKSGYHQSASEHGLVVIAPDTSPRGCNIKGEDESWDFGTGAGFYVDATEDPWKTNYRMYSYVTEELPQLINANFPVDPQRMSIFGHSMGGHGALICALKNPGKYKSVSAFAPICNPVLCPWGKKAFSGYLGTDQSKWKAYDATHLVKSYPGSQLDILIDQGKDDQFLLDGQLLPDNFIAACTEKKIPVVFRLQEGYDHSYYFIATFITDHIRHHAKYLNA
UniProt ID: P10768
Variant: G -> D at position 257-257
Variant annotation: in dbSNP:rs15303
Protein function: Serine hydrolase involved in the detoxification of formaldehyde.
Reference sequence:
MALKQISSNKCFGGLQKVFEHDSVELNCKMKFAVYLPPKAETGKCPALYWLSGLTCTEQNFISKSGYHQSASEHGLVVIAPDTSPRGCNIKGEDESWDFGTGAGFYVDATEDPWKTNYRMYSYVTEELPQLINANFPVDPQRMSIFGHSMGGHGALICALKNPGKYKSVSAFAPICNPVLCPWGKKAFSGYLGTDQSKWKAYDATHLVKSYPGSQLDILIDQGKDDQFLLDGQLLPDNFIAACTEKKIPVVFRLQEGYDHSYYFIATFITDHIRHHAKYLNA
UniProt ID: P10787
Variant: D -> E at position 32-32
Variant annotation: in minor component B'
Protein function: Hemocyanins are copper-containing oxygen carriers occurring freely dissolved in the hemolymph of many mollusks and arthropods.
Reference sequence:
DALGTGNANKQQDINHLLDKIYEPTKYPDLKDIAENFNPLGDTSIYNDHGAAAEALMKELNDHRLLEQRHWFSLFNTRQREEALMLFAVLNQCKEWYCFRSNAAYFRERMNEGEFVYALYVSVIHSKLGDGIVLPPLYEITPHMFTNSEVIDKAYSAKMTQKPGTFNVSFTGTKKNREQRVAYFGEDIGMNIHHVTWHMDFPTWWQDSYGYHLDRKGELFFWVHHQLTARFDFERLSNWLDPVDELHWDRIIREGFAPLTSYKYGGEFPVRPDNIHFEDVDGVAHVHDLEITESRIHDAIDHGYITDSDGHTIDIRQPKGIELLGDIIESSMYSSNVQYYGSLHNTAHAMLGRQGDPHGKFNLPPGVMEHFETATRDPSFFRLHKYMDNIFKKHTDSFPPYTHDDLEFAGMVVDGIAIDGELITFFDEFQYSILNAVDSGENIEDVDINARVHRLNHNEFTYKITMSNNNDGERLATFRIFLCPIEDNNGITLTLDEARWFCIELDKFFQKVPSGPETIERSSKDSSVTVPDMPSFQSLKEQADNAVNGGHDLDLSAYERSCGIPDRMLLPKSKPEGMKFNLYVAVTDGDKDTEGHNGGHDYGGTHAQCGVHGEAFPDNRPLGYPLERRIPDERVIDGVSNIKHVVVKIVHHLEHHD
UniProt ID: P10787
Variant: H -> Q at position 49-49
Variant annotation: in minor component B'
Protein function: Hemocyanins are copper-containing oxygen carriers occurring freely dissolved in the hemolymph of many mollusks and arthropods.
Reference sequence:
DALGTGNANKQQDINHLLDKIYEPTKYPDLKDIAENFNPLGDTSIYNDHGAAAEALMKELNDHRLLEQRHWFSLFNTRQREEALMLFAVLNQCKEWYCFRSNAAYFRERMNEGEFVYALYVSVIHSKLGDGIVLPPLYEITPHMFTNSEVIDKAYSAKMTQKPGTFNVSFTGTKKNREQRVAYFGEDIGMNIHHVTWHMDFPTWWQDSYGYHLDRKGELFFWVHHQLTARFDFERLSNWLDPVDELHWDRIIREGFAPLTSYKYGGEFPVRPDNIHFEDVDGVAHVHDLEITESRIHDAIDHGYITDSDGHTIDIRQPKGIELLGDIIESSMYSSNVQYYGSLHNTAHAMLGRQGDPHGKFNLPPGVMEHFETATRDPSFFRLHKYMDNIFKKHTDSFPPYTHDDLEFAGMVVDGIAIDGELITFFDEFQYSILNAVDSGENIEDVDINARVHRLNHNEFTYKITMSNNNDGERLATFRIFLCPIEDNNGITLTLDEARWFCIELDKFFQKVPSGPETIERSSKDSSVTVPDMPSFQSLKEQADNAVNGGHDLDLSAYERSCGIPDRMLLPKSKPEGMKFNLYVAVTDGDKDTEGHNGGHDYGGTHAQCGVHGEAFPDNRPLGYPLERRIPDERVIDGVSNIKHVVVKIVHHLEHHD
UniProt ID: P10787
Variant: S -> G at position 122-122
Variant annotation: in minor component B'
Protein function: Hemocyanins are copper-containing oxygen carriers occurring freely dissolved in the hemolymph of many mollusks and arthropods.
Reference sequence:
DALGTGNANKQQDINHLLDKIYEPTKYPDLKDIAENFNPLGDTSIYNDHGAAAEALMKELNDHRLLEQRHWFSLFNTRQREEALMLFAVLNQCKEWYCFRSNAAYFRERMNEGEFVYALYVSVIHSKLGDGIVLPPLYEITPHMFTNSEVIDKAYSAKMTQKPGTFNVSFTGTKKNREQRVAYFGEDIGMNIHHVTWHMDFPTWWQDSYGYHLDRKGELFFWVHHQLTARFDFERLSNWLDPVDELHWDRIIREGFAPLTSYKYGGEFPVRPDNIHFEDVDGVAHVHDLEITESRIHDAIDHGYITDSDGHTIDIRQPKGIELLGDIIESSMYSSNVQYYGSLHNTAHAMLGRQGDPHGKFNLPPGVMEHFETATRDPSFFRLHKYMDNIFKKHTDSFPPYTHDDLEFAGMVVDGIAIDGELITFFDEFQYSILNAVDSGENIEDVDINARVHRLNHNEFTYKITMSNNNDGERLATFRIFLCPIEDNNGITLTLDEARWFCIELDKFFQKVPSGPETIERSSKDSSVTVPDMPSFQSLKEQADNAVNGGHDLDLSAYERSCGIPDRMLLPKSKPEGMKFNLYVAVTDGDKDTEGHNGGHDYGGTHAQCGVHGEAFPDNRPLGYPLERRIPDERVIDGVSNIKHVVVKIVHHLEHHD
UniProt ID: P10787
Variant: D -> K at position 130-130
Variant annotation: in minor component B'
Protein function: Hemocyanins are copper-containing oxygen carriers occurring freely dissolved in the hemolymph of many mollusks and arthropods.
Reference sequence:
DALGTGNANKQQDINHLLDKIYEPTKYPDLKDIAENFNPLGDTSIYNDHGAAAEALMKELNDHRLLEQRHWFSLFNTRQREEALMLFAVLNQCKEWYCFRSNAAYFRERMNEGEFVYALYVSVIHSKLGDGIVLPPLYEITPHMFTNSEVIDKAYSAKMTQKPGTFNVSFTGTKKNREQRVAYFGEDIGMNIHHVTWHMDFPTWWQDSYGYHLDRKGELFFWVHHQLTARFDFERLSNWLDPVDELHWDRIIREGFAPLTSYKYGGEFPVRPDNIHFEDVDGVAHVHDLEITESRIHDAIDHGYITDSDGHTIDIRQPKGIELLGDIIESSMYSSNVQYYGSLHNTAHAMLGRQGDPHGKFNLPPGVMEHFETATRDPSFFRLHKYMDNIFKKHTDSFPPYTHDDLEFAGMVVDGIAIDGELITFFDEFQYSILNAVDSGENIEDVDINARVHRLNHNEFTYKITMSNNNDGERLATFRIFLCPIEDNNGITLTLDEARWFCIELDKFFQKVPSGPETIERSSKDSSVTVPDMPSFQSLKEQADNAVNGGHDLDLSAYERSCGIPDRMLLPKSKPEGMKFNLYVAVTDGDKDTEGHNGGHDYGGTHAQCGVHGEAFPDNRPLGYPLERRIPDERVIDGVSNIKHVVVKIVHHLEHHD
UniProt ID: P10787
Variant: I -> V at position 132-132
Variant annotation: in minor component B'
Protein function: Hemocyanins are copper-containing oxygen carriers occurring freely dissolved in the hemolymph of many mollusks and arthropods.
Reference sequence:
DALGTGNANKQQDINHLLDKIYEPTKYPDLKDIAENFNPLGDTSIYNDHGAAAEALMKELNDHRLLEQRHWFSLFNTRQREEALMLFAVLNQCKEWYCFRSNAAYFRERMNEGEFVYALYVSVIHSKLGDGIVLPPLYEITPHMFTNSEVIDKAYSAKMTQKPGTFNVSFTGTKKNREQRVAYFGEDIGMNIHHVTWHMDFPTWWQDSYGYHLDRKGELFFWVHHQLTARFDFERLSNWLDPVDELHWDRIIREGFAPLTSYKYGGEFPVRPDNIHFEDVDGVAHVHDLEITESRIHDAIDHGYITDSDGHTIDIRQPKGIELLGDIIESSMYSSNVQYYGSLHNTAHAMLGRQGDPHGKFNLPPGVMEHFETATRDPSFFRLHKYMDNIFKKHTDSFPPYTHDDLEFAGMVVDGIAIDGELITFFDEFQYSILNAVDSGENIEDVDINARVHRLNHNEFTYKITMSNNNDGERLATFRIFLCPIEDNNGITLTLDEARWFCIELDKFFQKVPSGPETIERSSKDSSVTVPDMPSFQSLKEQADNAVNGGHDLDLSAYERSCGIPDRMLLPKSKPEGMKFNLYVAVTDGDKDTEGHNGGHDYGGTHAQCGVHGEAFPDNRPLGYPLERRIPDERVIDGVSNIKHVVVKIVHHLEHHD
UniProt ID: P10787
Variant: S -> A at position 561-561
Variant annotation: in minor component B'
Protein function: Hemocyanins are copper-containing oxygen carriers occurring freely dissolved in the hemolymph of many mollusks and arthropods.
Reference sequence:
DALGTGNANKQQDINHLLDKIYEPTKYPDLKDIAENFNPLGDTSIYNDHGAAAEALMKELNDHRLLEQRHWFSLFNTRQREEALMLFAVLNQCKEWYCFRSNAAYFRERMNEGEFVYALYVSVIHSKLGDGIVLPPLYEITPHMFTNSEVIDKAYSAKMTQKPGTFNVSFTGTKKNREQRVAYFGEDIGMNIHHVTWHMDFPTWWQDSYGYHLDRKGELFFWVHHQLTARFDFERLSNWLDPVDELHWDRIIREGFAPLTSYKYGGEFPVRPDNIHFEDVDGVAHVHDLEITESRIHDAIDHGYITDSDGHTIDIRQPKGIELLGDIIESSMYSSNVQYYGSLHNTAHAMLGRQGDPHGKFNLPPGVMEHFETATRDPSFFRLHKYMDNIFKKHTDSFPPYTHDDLEFAGMVVDGIAIDGELITFFDEFQYSILNAVDSGENIEDVDINARVHRLNHNEFTYKITMSNNNDGERLATFRIFLCPIEDNNGITLTLDEARWFCIELDKFFQKVPSGPETIERSSKDSSVTVPDMPSFQSLKEQADNAVNGGHDLDLSAYERSCGIPDRMLLPKSKPEGMKFNLYVAVTDGDKDTEGHNGGHDYGGTHAQCGVHGEAFPDNRPLGYPLERRIPDERVIDGVSNIKHVVVKIVHHLEHHD
UniProt ID: P10828
Variant: D -> G at position 216-216
Variant annotation: in dbSNP:rs9865746
Protein function: Nuclear hormone receptor that can act as a repressor or activator of transcription. High affinity receptor for thyroid hormones, including triiodothyronine and thyroxine.
Reference sequence:
MTPNSMTENGLTAWDKPKHCPDREHDWKLVGMSEACLHRKSHSERRSTLKNEQSSPHLIQTTWTSSIFHLDHDDVNDQSVSSAQTFQTEEKKCKGYIPSYLDKDELCVVCGDKATGYHYRCITCEGCKGFFRRTIQKNLHPSYSCKYEGKCVIDKVTRNQCQECRFKKCIYVGMATDLVLDDSKRLAKRKLIEENREKRRREELQKSIGHKPEPTDEEWELIKTVTEAHVATNAQGSHWKQKRKFLPEDIGQAPIVNAPEGGKVDLEAFSHFTKIITPAITRVVDFAKKLPMFCELPCEDQIILLKGCCMEIMSLRAAVRYDPESETLTLNGEMAVTRGQLKNGGLGVVSDAIFDLGMSLSSFNLDDTEVALLQAVLLMSSDRPGLACVERIEKYQDSFLLAFEHYINYRKHHVTHFWPKLLMKVTDLRMIGACHASRFLHMKVECPTELFPPLFLEVFED
UniProt ID: P10828
Variant: A -> T at position 234-234
Variant annotation: in GRTHD; impairs hormone binding and ligand-dependent conformational changes; dbSNP:rs121918694
Protein function: Nuclear hormone receptor that can act as a repressor or activator of transcription. High affinity receptor for thyroid hormones, including triiodothyronine and thyroxine.
Reference sequence:
MTPNSMTENGLTAWDKPKHCPDREHDWKLVGMSEACLHRKSHSERRSTLKNEQSSPHLIQTTWTSSIFHLDHDDVNDQSVSSAQTFQTEEKKCKGYIPSYLDKDELCVVCGDKATGYHYRCITCEGCKGFFRRTIQKNLHPSYSCKYEGKCVIDKVTRNQCQECRFKKCIYVGMATDLVLDDSKRLAKRKLIEENREKRRREELQKSIGHKPEPTDEEWELIKTVTEAHVATNAQGSHWKQKRKFLPEDIGQAPIVNAPEGGKVDLEAFSHFTKIITPAITRVVDFAKKLPMFCELPCEDQIILLKGCCMEIMSLRAAVRYDPESETLTLNGEMAVTRGQLKNGGLGVVSDAIFDLGMSLSSFNLDDTEVALLQAVLLMSSDRPGLACVERIEKYQDSFLLAFEHYINYRKHHVTHFWPKLLMKVTDLRMIGACHASRFLHMKVECPTELFPPLFLEVFED
UniProt ID: P10828
Variant: R -> W at position 243-243
Variant annotation: in GRTHD; dbSNP:rs121918707
Protein function: Nuclear hormone receptor that can act as a repressor or activator of transcription. High affinity receptor for thyroid hormones, including triiodothyronine and thyroxine.
Reference sequence:
MTPNSMTENGLTAWDKPKHCPDREHDWKLVGMSEACLHRKSHSERRSTLKNEQSSPHLIQTTWTSSIFHLDHDDVNDQSVSSAQTFQTEEKKCKGYIPSYLDKDELCVVCGDKATGYHYRCITCEGCKGFFRRTIQKNLHPSYSCKYEGKCVIDKVTRNQCQECRFKKCIYVGMATDLVLDDSKRLAKRKLIEENREKRRREELQKSIGHKPEPTDEEWELIKTVTEAHVATNAQGSHWKQKRKFLPEDIGQAPIVNAPEGGKVDLEAFSHFTKIITPAITRVVDFAKKLPMFCELPCEDQIILLKGCCMEIMSLRAAVRYDPESETLTLNGEMAVTRGQLKNGGLGVVSDAIFDLGMSLSSFNLDDTEVALLQAVLLMSSDRPGLACVERIEKYQDSFLLAFEHYINYRKHHVTHFWPKLLMKVTDLRMIGACHASRFLHMKVECPTELFPPLFLEVFED
UniProt ID: P10828
Variant: A -> G at position 268-268
Variant annotation: in GRTHD
Protein function: Nuclear hormone receptor that can act as a repressor or activator of transcription. High affinity receptor for thyroid hormones, including triiodothyronine and thyroxine.
Reference sequence:
MTPNSMTENGLTAWDKPKHCPDREHDWKLVGMSEACLHRKSHSERRSTLKNEQSSPHLIQTTWTSSIFHLDHDDVNDQSVSSAQTFQTEEKKCKGYIPSYLDKDELCVVCGDKATGYHYRCITCEGCKGFFRRTIQKNLHPSYSCKYEGKCVIDKVTRNQCQECRFKKCIYVGMATDLVLDDSKRLAKRKLIEENREKRRREELQKSIGHKPEPTDEEWELIKTVTEAHVATNAQGSHWKQKRKFLPEDIGQAPIVNAPEGGKVDLEAFSHFTKIITPAITRVVDFAKKLPMFCELPCEDQIILLKGCCMEIMSLRAAVRYDPESETLTLNGEMAVTRGQLKNGGLGVVSDAIFDLGMSLSSFNLDDTEVALLQAVLLMSSDRPGLACVERIEKYQDSFLLAFEHYINYRKHHVTHFWPKLLMKVTDLRMIGACHASRFLHMKVECPTELFPPLFLEVFED
UniProt ID: P10828
Variant: R -> H at position 316-316
Variant annotation: in PRTH; impairs hormone binding; dbSNP:rs121918695
Protein function: Nuclear hormone receptor that can act as a repressor or activator of transcription. High affinity receptor for thyroid hormones, including triiodothyronine and thyroxine.
Reference sequence:
MTPNSMTENGLTAWDKPKHCPDREHDWKLVGMSEACLHRKSHSERRSTLKNEQSSPHLIQTTWTSSIFHLDHDDVNDQSVSSAQTFQTEEKKCKGYIPSYLDKDELCVVCGDKATGYHYRCITCEGCKGFFRRTIQKNLHPSYSCKYEGKCVIDKVTRNQCQECRFKKCIYVGMATDLVLDDSKRLAKRKLIEENREKRRREELQKSIGHKPEPTDEEWELIKTVTEAHVATNAQGSHWKQKRKFLPEDIGQAPIVNAPEGGKVDLEAFSHFTKIITPAITRVVDFAKKLPMFCELPCEDQIILLKGCCMEIMSLRAAVRYDPESETLTLNGEMAVTRGQLKNGGLGVVSDAIFDLGMSLSSFNLDDTEVALLQAVLLMSSDRPGLACVERIEKYQDSFLLAFEHYINYRKHHVTHFWPKLLMKVTDLRMIGACHASRFLHMKVECPTELFPPLFLEVFED
UniProt ID: P10828
Variant: A -> T at position 317-317
Variant annotation: in GRTHD; impairs hormone binding; dbSNP:rs121918690
Protein function: Nuclear hormone receptor that can act as a repressor or activator of transcription. High affinity receptor for thyroid hormones, including triiodothyronine and thyroxine.
Reference sequence:
MTPNSMTENGLTAWDKPKHCPDREHDWKLVGMSEACLHRKSHSERRSTLKNEQSSPHLIQTTWTSSIFHLDHDDVNDQSVSSAQTFQTEEKKCKGYIPSYLDKDELCVVCGDKATGYHYRCITCEGCKGFFRRTIQKNLHPSYSCKYEGKCVIDKVTRNQCQECRFKKCIYVGMATDLVLDDSKRLAKRKLIEENREKRRREELQKSIGHKPEPTDEEWELIKTVTEAHVATNAQGSHWKQKRKFLPEDIGQAPIVNAPEGGKVDLEAFSHFTKIITPAITRVVDFAKKLPMFCELPCEDQIILLKGCCMEIMSLRAAVRYDPESETLTLNGEMAVTRGQLKNGGLGVVSDAIFDLGMSLSSFNLDDTEVALLQAVLLMSSDRPGLACVERIEKYQDSFLLAFEHYINYRKHHVTHFWPKLLMKVTDLRMIGACHASRFLHMKVECPTELFPPLFLEVFED
UniProt ID: P10828
Variant: R -> C at position 320-320
Variant annotation: in GRTHD; dbSNP:rs121918696
Protein function: Nuclear hormone receptor that can act as a repressor or activator of transcription. High affinity receptor for thyroid hormones, including triiodothyronine and thyroxine.
Reference sequence:
MTPNSMTENGLTAWDKPKHCPDREHDWKLVGMSEACLHRKSHSERRSTLKNEQSSPHLIQTTWTSSIFHLDHDDVNDQSVSSAQTFQTEEKKCKGYIPSYLDKDELCVVCGDKATGYHYRCITCEGCKGFFRRTIQKNLHPSYSCKYEGKCVIDKVTRNQCQECRFKKCIYVGMATDLVLDDSKRLAKRKLIEENREKRRREELQKSIGHKPEPTDEEWELIKTVTEAHVATNAQGSHWKQKRKFLPEDIGQAPIVNAPEGGKVDLEAFSHFTKIITPAITRVVDFAKKLPMFCELPCEDQIILLKGCCMEIMSLRAAVRYDPESETLTLNGEMAVTRGQLKNGGLGVVSDAIFDLGMSLSSFNLDDTEVALLQAVLLMSSDRPGLACVERIEKYQDSFLLAFEHYINYRKHHVTHFWPKLLMKVTDLRMIGACHASRFLHMKVECPTELFPPLFLEVFED
UniProt ID: P10828
Variant: R -> H at position 320-320
Variant annotation: in GRTHD; dbSNP:rs121918693
Protein function: Nuclear hormone receptor that can act as a repressor or activator of transcription. High affinity receptor for thyroid hormones, including triiodothyronine and thyroxine.
Reference sequence:
MTPNSMTENGLTAWDKPKHCPDREHDWKLVGMSEACLHRKSHSERRSTLKNEQSSPHLIQTTWTSSIFHLDHDDVNDQSVSSAQTFQTEEKKCKGYIPSYLDKDELCVVCGDKATGYHYRCITCEGCKGFFRRTIQKNLHPSYSCKYEGKCVIDKVTRNQCQECRFKKCIYVGMATDLVLDDSKRLAKRKLIEENREKRRREELQKSIGHKPEPTDEEWELIKTVTEAHVATNAQGSHWKQKRKFLPEDIGQAPIVNAPEGGKVDLEAFSHFTKIITPAITRVVDFAKKLPMFCELPCEDQIILLKGCCMEIMSLRAAVRYDPESETLTLNGEMAVTRGQLKNGGLGVVSDAIFDLGMSLSSFNLDDTEVALLQAVLLMSSDRPGLACVERIEKYQDSFLLAFEHYINYRKHHVTHFWPKLLMKVTDLRMIGACHASRFLHMKVECPTELFPPLFLEVFED
UniProt ID: P10828
Variant: N -> D at position 331-331
Variant annotation: in GRTHD
Protein function: Nuclear hormone receptor that can act as a repressor or activator of transcription. High affinity receptor for thyroid hormones, including triiodothyronine and thyroxine.
Reference sequence:
MTPNSMTENGLTAWDKPKHCPDREHDWKLVGMSEACLHRKSHSERRSTLKNEQSSPHLIQTTWTSSIFHLDHDDVNDQSVSSAQTFQTEEKKCKGYIPSYLDKDELCVVCGDKATGYHYRCITCEGCKGFFRRTIQKNLHPSYSCKYEGKCVIDKVTRNQCQECRFKKCIYVGMATDLVLDDSKRLAKRKLIEENREKRRREELQKSIGHKPEPTDEEWELIKTVTEAHVATNAQGSHWKQKRKFLPEDIGQAPIVNAPEGGKVDLEAFSHFTKIITPAITRVVDFAKKLPMFCELPCEDQIILLKGCCMEIMSLRAAVRYDPESETLTLNGEMAVTRGQLKNGGLGVVSDAIFDLGMSLSSFNLDDTEVALLQAVLLMSSDRPGLACVERIEKYQDSFLLAFEHYINYRKHHVTHFWPKLLMKVTDLRMIGACHASRFLHMKVECPTELFPPLFLEVFED
UniProt ID: P10828
Variant: G -> R at position 332-332
Variant annotation: in GRTHD; dbSNP:rs28999969
Protein function: Nuclear hormone receptor that can act as a repressor or activator of transcription. High affinity receptor for thyroid hormones, including triiodothyronine and thyroxine.
Reference sequence:
MTPNSMTENGLTAWDKPKHCPDREHDWKLVGMSEACLHRKSHSERRSTLKNEQSSPHLIQTTWTSSIFHLDHDDVNDQSVSSAQTFQTEEKKCKGYIPSYLDKDELCVVCGDKATGYHYRCITCEGCKGFFRRTIQKNLHPSYSCKYEGKCVIDKVTRNQCQECRFKKCIYVGMATDLVLDDSKRLAKRKLIEENREKRRREELQKSIGHKPEPTDEEWELIKTVTEAHVATNAQGSHWKQKRKFLPEDIGQAPIVNAPEGGKVDLEAFSHFTKIITPAITRVVDFAKKLPMFCELPCEDQIILLKGCCMEIMSLRAAVRYDPESETLTLNGEMAVTRGQLKNGGLGVVSDAIFDLGMSLSSFNLDDTEVALLQAVLLMSSDRPGLACVERIEKYQDSFLLAFEHYINYRKHHVTHFWPKLLMKVTDLRMIGACHASRFLHMKVECPTELFPPLFLEVFED
UniProt ID: P10828
Variant: A -> P at position 335-335
Variant annotation: in GRTHD
Protein function: Nuclear hormone receptor that can act as a repressor or activator of transcription. High affinity receptor for thyroid hormones, including triiodothyronine and thyroxine.
Reference sequence:
MTPNSMTENGLTAWDKPKHCPDREHDWKLVGMSEACLHRKSHSERRSTLKNEQSSPHLIQTTWTSSIFHLDHDDVNDQSVSSAQTFQTEEKKCKGYIPSYLDKDELCVVCGDKATGYHYRCITCEGCKGFFRRTIQKNLHPSYSCKYEGKCVIDKVTRNQCQECRFKKCIYVGMATDLVLDDSKRLAKRKLIEENREKRRREELQKSIGHKPEPTDEEWELIKTVTEAHVATNAQGSHWKQKRKFLPEDIGQAPIVNAPEGGKVDLEAFSHFTKIITPAITRVVDFAKKLPMFCELPCEDQIILLKGCCMEIMSLRAAVRYDPESETLTLNGEMAVTRGQLKNGGLGVVSDAIFDLGMSLSSFNLDDTEVALLQAVLLMSSDRPGLACVERIEKYQDSFLLAFEHYINYRKHHVTHFWPKLLMKVTDLRMIGACHASRFLHMKVECPTELFPPLFLEVFED