sujigwak/NVAR huggingface dataset:
UniProt ID: P02110
Variant: S -> A at position 139-139
Variant annotation: in allelic variant
Protein function: Involved in oxygen transport from the lung to the various peripheral tissues.
Reference sequence:
MVHLSGSEKTAVTNLWGHVNVNELGGEALGRLLVVYPWTQRFFESFGDLSSADAVMGNAKVKAHGAKVLTSFGDALKNLDNLKGTFAKLSELHCDKLHVDPENFNRLGNVLVVVLARHFSKEFTPEAQAAWQKLVSGVSHALAHKYH
UniProt ID: P02112
Variant: T -> S at position 70-70
Protein function: Involved in oxygen transport from the lung to the various peripheral tissues. The beta chain is a component of adult hemoglobin A and D.
Reference sequence:
MVHWTAEEKQLITGLWGKVNVAECGAEALARLLIVYPWTQRFFASFGNLSSPTAILGNPMVRAHGKKVLTSFGDAVKNLDNIKNTFSQLSELHCDKLHVDPENFRLLGDILIIVLAAHFSKDFTPECQAAWQKLVRVVAHALARKYH
UniProt ID: P02128
Variant: R -> K at position 60-60
Protein function: Beta-type chain found in early embryos.
Reference sequence:
MVHWSAEEKQLITSVWSKVNVEECGAEALARLLIVYPWTQRFFASFGNLSSPTAIMGNPRVRAHGKKVLSSFGEAVKNLDNIKNTYAKLSELHCDKLHVDPENFRLLGDILIIVLASHFARDFTPACQFAWQKLVNVVAHALARKYH
UniProt ID: P02139
Variant: A -> G at position 13-13
Variant annotation: in beta-B chain
Protein function: Involved in oxygen transport from gills to the various peripheral tissues.
Reference sequence:
VEWTDAERSAIIALWGKLNPDELGPEALARCLIVYPWTQRFFASYGNLSSPAAIMGNPKVAAHGRTVEGGLMRAIKDMDNIKATYAPLSVMHSEKLHVDPDNFRLLADCITVCAAMKFGPSGFSPNVQEAWQKFLSVVVNALKRQYH
UniProt ID: P02139
Variant: F -> Y at position 41-41
Variant annotation: in beta-B chain
Protein function: Involved in oxygen transport from gills to the various peripheral tissues.
Reference sequence:
VEWTDAERSAIIALWGKLNPDELGPEALARCLIVYPWTQRFFASYGNLSSPAAIMGNPKVAAHGRTVEGGLMRAIKDMDNIKATYAPLSVMHSEKLHVDPDNFRLLADCITVCAAMKFGPSGFSPNVQEAWQKFLSVVVNALKRQYH
UniProt ID: P02139
Variant: G -> A at position 122-122
Variant annotation: in beta-B chain
Protein function: Involved in oxygen transport from gills to the various peripheral tissues.
Reference sequence:
VEWTDAERSAIIALWGKLNPDELGPEALARCLIVYPWTQRFFASYGNLSSPAAIMGNPKVAAHGRTVEGGLMRAIKDMDNIKATYAPLSVMHSEKLHVDPDNFRLLADCITVCAAMKFGPSGFSPNVQEAWQKFLSVVVNALKRQYH
UniProt ID: P02139
Variant: K -> C at position 143-143
Variant annotation: in beta-B chain
Protein function: Involved in oxygen transport from gills to the various peripheral tissues.
Reference sequence:
VEWTDAERSAIIALWGKLNPDELGPEALARCLIVYPWTQRFFASYGNLSSPAAIMGNPKVAAHGRTVEGGLMRAIKDMDNIKATYAPLSVMHSEKLHVDPDNFRLLADCITVCAAMKFGPSGFSPNVQEAWQKFLSVVVNALKRQYH
UniProt ID: P02144
Variant: E -> K at position 55-55
Variant annotation: in dbSNP:rs145465287
Protein function: Serves as a reserve supply of oxygen and facilitates the movement of oxygen within muscles.
Reference sequence:
MGLSDGEWQLVLNVWGKVEADIPGHGQEVLIRLFKGHPETLEKFDKFKHLKSEDEMKASEDLKKHGATVLTALGGILKKKGHHEAEIKPLAQSHATKHKIPVKYLEFISECIIQVLQSKHPGDFGADAQGAMNKALELFRKDMASNYKELGFQG
UniProt ID: P02144
Variant: H -> Y at position 98-98
Variant annotation: in MYOSB; decreased oxygen binding; changed oxygen carrier activity; exhibits a higher tendency to form high-molecular-weight aggregates; more prone to heme bleaching
Protein function: Serves as a reserve supply of oxygen and facilitates the movement of oxygen within muscles.
Reference sequence:
MGLSDGEWQLVLNVWGKVEADIPGHGQEVLIRLFKGHPETLEKFDKFKHLKSEDEMKASEDLKKHGATVLTALGGILKKKGHHEAEIKPLAQSHATKHKIPVKYLEFISECIIQVLQSKHPGDFGADAQGAMNKALELFRKDMASNYKELGFQG
UniProt ID: P02144
Variant: K -> N at position 134-134
Variant annotation: in dbSNP:rs766095327
Protein function: Serves as a reserve supply of oxygen and facilitates the movement of oxygen within muscles.
Reference sequence:
MGLSDGEWQLVLNVWGKVEADIPGHGQEVLIRLFKGHPETLEKFDKFKHLKSEDEMKASEDLKKHGATVLTALGGILKKKGHHEAEIKPLAQSHATKHKIPVKYLEFISECIIQVLQSKHPGDFGADAQGAMNKALELFRKDMASNYKELGFQG
UniProt ID: P02144
Variant: R -> Q at position 140-140
Variant annotation: in dbSNP:rs142225854
Protein function: Serves as a reserve supply of oxygen and facilitates the movement of oxygen within muscles.
Reference sequence:
MGLSDGEWQLVLNVWGKVEADIPGHGQEVLIRLFKGHPETLEKFDKFKHLKSEDEMKASEDLKKHGATVLTALGGILKKKGHHEAEIKPLAQSHATKHKIPVKYLEFISECIIQVLQSKHPGDFGADAQGAMNKALELFRKDMASNYKELGFQG
UniProt ID: P02144
Variant: R -> W at position 140-140
Variant annotation: in dbSNP:rs767663245
Protein function: Serves as a reserve supply of oxygen and facilitates the movement of oxygen within muscles.
Reference sequence:
MGLSDGEWQLVLNVWGKVEADIPGHGQEVLIRLFKGHPETLEKFDKFKHLKSEDEMKASEDLKKHGATVLTALGGILKKKGHHEAEIKPLAQSHATKHKIPVKYLEFISECIIQVLQSKHPGDFGADAQGAMNKALELFRKDMASNYKELGFQG
UniProt ID: P02152
Variant: G -> FKG at position 2-2
Variant annotation: in minor component
Protein function: Serves as a reserve supply of oxygen and facilitates the movement of oxygen within muscles.
Reference sequence:
MGLSDGEWQLVLNVWGKVEADIPSHGQEVLISLFKGHPETLEKFDKFKHLKSEDEMKASEELKKHGVTVLTALGGILKKKGHHEAELKPLAQSHATKHKIPVKYLEFISDAIVHVLQKKHPGDFGADAQGAMKKALELFRNDMAAKYKELGFQG
UniProt ID: P02152
Variant: K -> R at position 63-63
Protein function: Serves as a reserve supply of oxygen and facilitates the movement of oxygen within muscles.
Reference sequence:
MGLSDGEWQLVLNVWGKVEADIPSHGQEVLISLFKGHPETLEKFDKFKHLKSEDEMKASEELKKHGVTVLTALGGILKKKGHHEAELKPLAQSHATKHKIPVKYLEFISDAIVHVLQKKHPGDFGADAQGAMKKALELFRNDMAAKYKELGFQG
UniProt ID: P02154
Variant: G -> FKG at position 2-2
Variant annotation: in minor component
Protein function: Serves as a reserve supply of oxygen and facilitates the movement of oxygen within muscles.
Reference sequence:
MGLSDGEWQLVLNIWGKVEADIPSHGQEVLISLFKGHPETLEKFDKFKHLKSEDEMKASEELKKHGVTVLTALGGILKKKGQHEAELKPLAQSHATKHKIPVKYLEFISDAIIHALQKKHPGDFGADAQGAMKKALELFRNDMAAKYKELGFQG
UniProt ID: P02155
Variant: G -> FKG at position 2-2
Variant annotation: in minor component
Protein function: Serves as a reserve supply of oxygen and facilitates the movement of oxygen within muscles.
Reference sequence:
MGLSDGEWQLVLNIWGKVEADIPSHGQEVLISLFKGHPETLEKFDKFKHLKSEDEMKASEELKKHGTTVLTALGGILKKKGQHEAELKPLAQSHATKHKIPVKYLELISDAIVHVLQKKHPGDFGADAQGAMKKALELFRNDMAAKYKELGFQG
UniProt ID: P02185
Variant: G -> A at position 122-122
Variant annotation: in metmyoglobin
Protein function: Serves as a reserve supply of oxygen and facilitates the movement of oxygen within muscles.
Reference sequence:
MVLSEGEWQLVLHVWAKVEADVAGHGQDILIRLFKSHPETLEKFDRFKHLKTEAEMKASEDLKKHGVTVLTALGAILKKKGHHEAELKPLAQSHATKHKIPIKYLEFISEAIIHVLHSRHPGDFGADAQGAMNKALELFRKDIAAKYKELGYQG
UniProt ID: P02233
Variant: P -> Q at position 22-22
Protein function: Provides oxygen to the bacteroids. This role is essential for symbiotic nitrogen fixation.
Reference sequence:
MGFTDKQEALVNSSSEFKQNLPGYSILFYTIVLEKAPAAKGLFSFLKDTAGVEDSPKLQAHAEQVFGLVRDSAAQLRTKGEVVLGNATLGAIHVQKGVTNPHFVVVKEALLQTIKKASGNNWSEELNTAWEVAYDGLATAIKKAMKTA
UniProt ID: P02233
Variant: YS ->  at position 24-25
Protein function: Provides oxygen to the bacteroids. This role is essential for symbiotic nitrogen fixation.
Reference sequence:
MGFTDKQEALVNSSSEFKQNLPGYSILFYTIVLEKAPAAKGLFSFLKDTAGVEDSPKLQAHAEQVFGLVRDSAAQLRTKGEVVLGNATLGAIHVQKGVTNPHFVVVKEALLQTIKKASGNNWSEELNTAWEVAYDGLATAIKKAMKTA
UniProt ID: P02233
Variant: I -> T at position 26-26
Protein function: Provides oxygen to the bacteroids. This role is essential for symbiotic nitrogen fixation.
Reference sequence:
MGFTDKQEALVNSSSEFKQNLPGYSILFYTIVLEKAPAAKGLFSFLKDTAGVEDSPKLQAHAEQVFGLVRDSAAQLRTKGEVVLGNATLGAIHVQKGVTNPHFVVVKEALLQTIKKASGNNWSEELNTAWEVAYDGLATAIKKAMKTA
UniProt ID: P02233
Variant: I -> V at position 26-26
Protein function: Provides oxygen to the bacteroids. This role is essential for symbiotic nitrogen fixation.
Reference sequence:
MGFTDKQEALVNSSSEFKQNLPGYSILFYTIVLEKAPAAKGLFSFLKDTAGVEDSPKLQAHAEQVFGLVRDSAAQLRTKGEVVLGNATLGAIHVQKGVTNPHFVVVKEALLQTIKKASGNNWSEELNTAWEVAYDGLATAIKKAMKTA
UniProt ID: P02233
Variant: V -> I at position 32-32
Protein function: Provides oxygen to the bacteroids. This role is essential for symbiotic nitrogen fixation.
Reference sequence:
MGFTDKQEALVNSSSEFKQNLPGYSILFYTIVLEKAPAAKGLFSFLKDTAGVEDSPKLQAHAEQVFGLVRDSAAQLRTKGEVVLGNATLGAIHVQKGVTNPHFVVVKEALLQTIKKASGNNWSEELNTAWEVAYDGLATAIKKAMKTA
UniProt ID: P02233
Variant: VQ -> AG at position 94-95
Protein function: Provides oxygen to the bacteroids. This role is essential for symbiotic nitrogen fixation.
Reference sequence:
MGFTDKQEALVNSSSEFKQNLPGYSILFYTIVLEKAPAAKGLFSFLKDTAGVEDSPKLQAHAEQVFGLVRDSAAQLRTKGEVVLGNATLGAIHVQKGVTNPHFVVVKEALLQTIKKASGNNWSEELNTAWEVAYDGLATAIKKAMKTA
UniProt ID: P02236
Variant: E -> D at position 9-9
Protein function: Provides oxygen to the bacteroids. This role is essential for symbiotic nitrogen fixation.
Reference sequence:
MGAFTEKQEALVSSSFEAFKANIPQYSVVFYTSILEKAPAAKDLFSFLSNGVDPSNPKLTGHAEKLFGLVRDSAGQLKANGTVVADAALGSIHAQKAITDPQFVVVKEALLKTIKEAVGDKWSDELSSAWEVAYDELAAAIKKAF
UniProt ID: P02236
Variant: I -> V at position 98-98
Protein function: Provides oxygen to the bacteroids. This role is essential for symbiotic nitrogen fixation.
Reference sequence:
MGAFTEKQEALVSSSFEAFKANIPQYSVVFYTSILEKAPAAKDLFSFLSNGVDPSNPKLTGHAEKLFGLVRDSAGQLKANGTVVADAALGSIHAQKAITDPQFVVVKEALLKTIKEAVGDKWSDELSSAWEVAYDELAAAIKKAF
UniProt ID: P02244
Variant: Q -> E at position 64-64
Variant annotation: in minor component
Protein function: Hemerythrin is a respiratory protein in blood cells of certain marine worms. The oxygen-binding site in each chain contains two iron atoms.
Reference sequence:
MGFPIPDPYVWDPSFRTFYSIIDDEHKTLFNGIFHLAIDDNADNLGELRRCTGKHFLNEQVLMQASQYQFYDEHKKEHETFIHALDNWKGDVKWAKSWLVNHIKTIDFKYKGKI
UniProt ID: P02244
Variant: E -> D at position 79-79
Variant annotation: in minor component
Protein function: Hemerythrin is a respiratory protein in blood cells of certain marine worms. The oxygen-binding site in each chain contains two iron atoms.
Reference sequence:
MGFPIPDPYVWDPSFRTFYSIIDDEHKTLFNGIFHLAIDDNADNLGELRRCTGKHFLNEQVLMQASQYQFYDEHKKEHETFIHALDNWKGDVKWAKSWLVNHIKTIDFKYKGKI
UniProt ID: P02244
Variant: T -> G at position 80-80
Protein function: Hemerythrin is a respiratory protein in blood cells of certain marine worms. The oxygen-binding site in each chain contains two iron atoms.
Reference sequence:
MGFPIPDPYVWDPSFRTFYSIIDDEHKTLFNGIFHLAIDDNADNLGELRRCTGKHFLNEQVLMQASQYQFYDEHKKEHETFIHALDNWKGDVKWAKSWLVNHIKTIDFKYKGKI
UniProt ID: P02244
Variant: H -> N at position 83-83
Variant annotation: in minor component
Protein function: Hemerythrin is a respiratory protein in blood cells of certain marine worms. The oxygen-binding site in each chain contains two iron atoms.
Reference sequence:
MGFPIPDPYVWDPSFRTFYSIIDDEHKTLFNGIFHLAIDDNADNLGELRRCTGKHFLNEQVLMQASQYQFYDEHKKEHETFIHALDNWKGDVKWAKSWLVNHIKTIDFKYKGKI
UniProt ID: P02244
Variant: S -> A at position 97-97
Variant annotation: in minor and major variants
Protein function: Hemerythrin is a respiratory protein in blood cells of certain marine worms. The oxygen-binding site in each chain contains two iron atoms.
Reference sequence:
MGFPIPDPYVWDPSFRTFYSIIDDEHKTLFNGIFHLAIDDNADNLGELRRCTGKHFLNEQVLMQASQYQFYDEHKKEHETFIHALDNWKGDVKWAKSWLVNHIKTIDFKYKGKI
UniProt ID: P02246
Variant: A -> S at position 64-64
Protein function: Hemerythrin is a respiratory protein in blood cells of certain marine worms. The oxygen-binding site in each chain contains two iron atoms.
Reference sequence:
GFPIPDPYCWDISFRTFYTIVDDEHKTLFNGILLLSQADNADHLNELRRCTGKHFLNEQQLMQASQYAGYAEHKKAHDDFIHKLDTWDGDVTYAKNWLVNHIKTIDFKYRGKI
UniProt ID: P02254
Variant: A -> I at position 35-35
Variant annotation: in minor component
Protein function: Histones H1 are necessary for the condensation of nucleosome chains into higher-order structures.
Reference sequence:
AEVAPAPAAAAPAKAPKKKAAAKPKKSGPAVGELAGKAVAASKERSGVSLAALKKSLAAGGYDVEKNNSRVKIAVKSLVTKGTLVETKGTGASGSFKLNKKAVEAKKPAKKAAAPKAKKVAAKKPAAAKKPKKVAAKKAVAAKKSPKKAKKPATPKKAAKSPKKATKAAKPKAAKPKKAAKSPKKVKKPAAAKK
UniProt ID: P02256
Variant: K -> R at position 144-144
Protein function: Histones H1 are necessary for the condensation of nucleosome chains into higher-order structures.
Reference sequence:
PGSPQKRAASPRKSPRKSPKKSPRKASASPRRKAKRARASTHPPVLEMVQAAITAMKERKGSSAAKIKSYMAANYRVDMNVLAPHVRRALRNGVASGALKQVTGTGASGRFRVGAVAKPKKAKKTSAAAKAKKAKAAAAKKARKAKAAAKRKAALAKKKAAAAKRKAAAKAKKAKKPKKKAAKKAKKPAKKSPKKAKKPAKKSPKKKKAKRSPKKAKKAAGKRKPAAKKARRSPRKAGKRRSPKKARK
UniProt ID: P02269
Variant: S -> A at position 19-19
Protein function: Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling.
Reference sequence:
MSGRGKGGKARAKAKSRSSRAGLQFPVGRVHRFLRKGNYAERVGAGAPVYLAAVMEYLAAEILELAGNAARDNKKTRINPRHLQLAIRNDEELNKLLSGVTIAQGGVLPNIQAVLLPKKTAKAAK
UniProt ID: P02269
Variant: E -> Q at position 41-41
Protein function: Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling.
Reference sequence:
MSGRGKGGKARAKAKSRSSRAGLQFPVGRVHRFLRKGNYAERVGAGAPVYLAAVMEYLAAEILELAGNAARDNKKTRINPRHLQLAIRNDEELNKLLSGVTIAQGGVLPNIQAVLLPKKTAKAAK
UniProt ID: P02269
Variant: L -> N at position 51-51
Protein function: Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling.
Reference sequence:
MSGRGKGGKARAKAKSRSSRAGLQFPVGRVHRFLRKGNYAERVGAGAPVYLAAVMEYLAAEILELAGNAARDNKKTRINPRHLQLAIRNDEELNKLLSGVTIAQGGVLPNIQAVLLPKKTAKAAK
UniProt ID: P02321
Variant: Q -> E at position 6-6
Variant annotation: in protamine-Y1
Protein function: Protamines substitute for histones in the chromatin of sperm during the haploid phase of spermatogenesis. They compact sperm DNA into a highly condensed, stable and inactive complex.
Reference sequence:
PRRRRQASRPVRRRRRYRRSTAARRRRRVVRRRR
UniProt ID: P02322
Variant: V -> A at position 22-22
Variant annotation: in protamine-Z2
Protein function: Protamines substitute for histones in the chromatin of sperm during the haploid phase of spermatogenesis. They compact sperm DNA into a highly condensed, stable and inactive complex.
Reference sequence:
PRRRRRSSRPVRRRRRYRRSTVARRRRRVVRRRR
UniProt ID: P02325
Variant: G -> S at position 9-9
Protein function: Protamines substitute for histones in the chromatin of sperm during the haploid phase of spermatogenesis. They compact sperm DNA into a highly condensed, stable and inactive complex.
Reference sequence:
PRRRRASSGRPVRRRRRPKMSRRRRRGGRRRR
UniProt ID: P02325
Variant: G -> S at position 28-28
Variant annotation: in 50% of the molecules
Protein function: Protamines substitute for histones in the chromatin of sperm during the haploid phase of spermatogenesis. They compact sperm DNA into a highly condensed, stable and inactive complex.
Reference sequence:
PRRRRASSGRPVRRRRRPKMSRRRRRGGRRRR
UniProt ID: P02331
Variant: V -> I at position 11-11
Variant annotation: in 18% of the CIII
Protein function: Protamines substitute for histones in the chromatin of sperm during the haploid phase of spermatogenesis. They compact sperm DNA into a highly condensed, stable and inactive complex.
Reference sequence:
MPRRRRASRPVRRRRRPRVSRRRRRGGRRRR
UniProt ID: P02331
Variant: V -> P at position 11-11
Variant annotation: in 18% of the CIII
Protein function: Protamines substitute for histones in the chromatin of sperm during the haploid phase of spermatogenesis. They compact sperm DNA into a highly condensed, stable and inactive complex.
Reference sequence:
MPRRRRASRPVRRRRRPRVSRRRRRGGRRRR
UniProt ID: P02343
Variant: T -> D at position 15-15
Protein function: Histone-like DNA-binding protein which is capable of wrapping DNA to stabilize it, and thus to prevent its denaturation under extreme environmental conditions.
Reference sequence:
MNKGELVDAVMAKATVTKKQADAFILALDIVA
UniProt ID: P02343
Variant: F -> V at position 24-24
Protein function: Histone-like DNA-binding protein which is capable of wrapping DNA to stabilize it, and thus to prevent its denaturation under extreme environmental conditions.
Reference sequence:
MNKGELVDAVMAKATVTKKQADAFILALDIVA
UniProt ID: P02406
Variant: Q -> E at position 38-38
Variant annotation: confers resistance to cycloheximide, an inhibitor of polypeptide elongation
Protein function: Component of the ribosome, a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell. The small ribosomal subunit (SSU) binds messenger RNAs (mRNAs) and translates the encoded message by selecting cognate aminoacyl-transfer RNA (tRNA) molecules. The large subunit (LSU) contains the ribosomal catalytic site termed the peptidyl transferase center (PTC), which catalyzes the formation of peptide bonds, thereby polymerizing the amino acids delivered by tRNAs into a polypeptide chain. The nascent polypeptides leave the ribosome through a tunnel in the LSU and interact with protein factors that function in enzymatic processing, targeting, and the membrane insertion of nascent chains at the exit of the ribosomal tunnel.
Reference sequence:
MPSRFTKTRKHRGHVSAGKGRIGKHRKHPGGRGMAGGQHHHRINMDKYHPGYFGKVGMRYFHKQQAHFWKPVLNLDKLWTLIPEDKRDQYLKSASKETAPVIDTLAAGYGKILGKGRIPNVPVIVKARFVSKLAEEKIRAAGGVVELIA
UniProt ID: P02438
Variant: I -> T at position 13-13
Variant annotation: in minor component
Protein function: The keratin products of mammalian epidermal derivatives such as wool and hair consist of microfibrils embedded in a rigid matrix of other proteins. The matrix proteins include the high-sulfur and high-tyrosine keratins, having molecular weights of 6-20 kDa, whereas the microfibrils contain the larger, low-sulfur keratins (40-56 kDa).
Reference sequence:
MACCSTSFCGFPICSTGGTCGSSPCQPTCCQTSCCQPTSIQTSCCQPISIQTSCCQPTSIQTSCCQPTCLQTSGCETGCGIGGSIGYGQVGSSGAVSSRTRWCRPDCRVEGTSLPPCCVVSCTPPSCCQLYYAQASCCRPSYCGQSCCRPACCCQPTCIEPICEPSCCEPTC
UniProt ID: P02438
Variant: S -> N at position 23-23
Variant annotation: in minor component
Protein function: The keratin products of mammalian epidermal derivatives such as wool and hair consist of microfibrils embedded in a rigid matrix of other proteins. The matrix proteins include the high-sulfur and high-tyrosine keratins, having molecular weights of 6-20 kDa, whereas the microfibrils contain the larger, low-sulfur keratins (40-56 kDa).
Reference sequence:
MACCSTSFCGFPICSTGGTCGSSPCQPTCCQTSCCQPTSIQTSCCQPISIQTSCCQPTSIQTSCCQPTCLQTSGCETGCGIGGSIGYGQVGSSGAVSSRTRWCRPDCRVEGTSLPPCCVVSCTPPSCCQLYYAQASCCRPSYCGQSCCRPACCCQPTCIEPICEPSCCEPTC
UniProt ID: P02438
Variant: P -> F at position 24-24
Variant annotation: in minor component
Protein function: The keratin products of mammalian epidermal derivatives such as wool and hair consist of microfibrils embedded in a rigid matrix of other proteins. The matrix proteins include the high-sulfur and high-tyrosine keratins, having molecular weights of 6-20 kDa, whereas the microfibrils contain the larger, low-sulfur keratins (40-56 kDa).
Reference sequence:
MACCSTSFCGFPICSTGGTCGSSPCQPTCCQTSCCQPTSIQTSCCQPISIQTSCCQPTSIQTSCCQPTCLQTSGCETGCGIGGSIGYGQVGSSGAVSSRTRWCRPDCRVEGTSLPPCCVVSCTPPSCCQLYYAQASCCRPSYCGQSCCRPACCCQPTCIEPICEPSCCEPTC
UniProt ID: P02439
Variant: D -> G at position 77-77
Variant annotation: in minor component
Protein function: The keratin products of mammalian epidermal derivatives such as wool and hair consist of microfibrils embedded in a rigid matrix of other proteins. The matrix proteins include the high-sulfur and high-tyrosine keratins, having molecular weights of 6-20 kDa, whereas the microfibrils contain the larger, low-sulfur keratins (40-56 kDa).
Reference sequence:
ACCSTSFCGFPICSSVGTCGSSCGQPTCSQTSCCQPTSIQTSCCQPISIQTSCCQPTCLQTSGCETGCGIGGSIGYDQVGSSGAVSSRTRWCRPDCRVEGTSLPPCCVVSCTSPSCCQLYYAQASCCRPSYCGQSCCRPACCCQPTCIEPVCEPTC
UniProt ID: P02442
Variant: Y -> C at position 23-23
Variant annotation: in minor component
Protein function: The keratin products of mammalian epidermal derivatives such as wool and hair consist of microfibrils embedded in a rigid matrix of other proteins. The matrix proteins include the high-sulfur and high-tyrosine keratins, having molecular weights of 6-20 kDa, whereas the microfibrils contain the larger, low-sulfur keratins (40-56 kDa).
Reference sequence:
TGSCCGPTFSSLSCGGGCLQPRYYRDPCCCRPVSCQTTVSRPVTFVSRCTRPICEPCRRPVCCDPCSLQEGCCRPITCCPTSCQAVVCRPCCWATTCCQPVSVQCPCCRPTSCQPAPCSRTTCRTFRTSPCC
UniProt ID: P02446
Variant: C -> T at position 65-65
Protein function: In the wool cortex, wool keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant wool shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of wool keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.
Reference sequence:
MACCAPRCCSVRTGPATTICSSDKFCRCGVCLPSTCPHNISLLQPTCCDNSPVPCVYPDTYVPTCFLLNSSHPTPGLSGINLTTFIQPGCENVCEPRC
UniProt ID: P02458
Variant: T -> S at position 9-9
Variant annotation: in dbSNP:rs3803183
Protein function: Type II collagen is specific for cartilaginous tissues. It is essential for the normal embryonic development of the skeleton, for linear growth and for the ability of cartilage to resist compressive forces.
Reference sequence:
MIRLGAPQTLVLLTLLVAAVLRCQGQDVQEAGSCVQDGQRYNDKDVWKPEPCRICVCDTGTVLCDDIICEDVKDCLSPEIPFGECCPICPTDLATASGQPGPKGQKGEPGDIKDIVGPKGPPGPQGPAGEQGPRGDRGDKGEKGAPGPRGRDGEPGTPGNPGPPGPPGPPGPPGLGGNFAAQMAGGFDEKAGGAQLGVMQGPMGPMGPRGPPGPAGAPGPQGFQGNPGEPGEPGVSGPMGPRGPPGPPGKPGDDGEAGKPGKAGERGPPGPQGARGFPGTPGLPGVKGHRGYPGLDGAKGEAGAPGVKGESGSPGENGSPGPMGPRGLPGERGRTGPAGAAGARGNDGQPGPAGPPGPVGPAGGPGFPGAPGAKGEAGPTGARGPEGAQGPRGEPGTPGSPGPAGASGNPGTDGIPGAKGSAGAPGIAGAPGFPGPRGPPGPQGATGPLGPKGQTGEPGIAGFKGEQGPKGEPGPAGPQGAPGPAGEEGKRGARGEPGGVGPIGPPGERGAPGNRGFPGQDGLAGPKGAPGERGPSGLAGPKGANGDPGRPGEPGLPGARGLTGRPGDAGPQGKVGPSGAPGEDGRPGPPGPQGARGQPGVMGFPGPKGANGEPGKAGEKGLPGAPGLRGLPGKDGETGAAGPPGPAGPAGERGEQGAPGPSGFQGLPGPPGPPGEGGKPGDQGVPGEAGAPGLVGPRGERGFPGERGSPGAQGLQGPRGLPGTPGTDGPKGASGPAGPPGAQGPPGLQGMPGERGAAGIAGPKGDRGDVGEKGPEGAPGKDGGRGLTGPIGPPGPAGANGEKGEVGPPGPAGSAGARGAPGERGETGPPGPAGFAGPPGADGQPGAKGEQGEAGQKGDAGAPGPQGPSGAPGPQGPTGVTGPKGARGAQGPPGATGFPGAAGRVGPPGSNGNPGPPGPPGPSGKDGPKGARGDSGPPGRAGEPGLQGPAGPPGEKGEPGDDGPSGAEGPPGPQGLAGQRGIVGLPGQRGERGFPGLPGPSGEPGKQGAPGASGDRGPPGPVGPPGLTGPAGEPGREGSPGADGPPGRDGAAGVKGDRGETGAVGAPGAPGPPGSPGPAGPTGKQGDRGEAGAQGPMGPSGPAGARGIQGPQGPRGDKGEAGEPGERGLKGHRGFTGLQGLPGPPGPSGDQGASGPAGPSGPRGPPGPVGPSGKDGANGIPGPIGPPGPRGRSGETGPAGPPGNPGPPGPPGPPGPGIDMSAFAGLGPREKGPDPLQYMRADQAAGGLRQHDAEVDATLKSLNNQIESIRSPEGSRKNPARTCRDLKLCHPEWKSGDYWIDPNQGCTLDAMKVFCNMETGETCVYPNPANVPKKNWWSSKSKEKKHIWFGETINGGFHFSYGDDNLAPNTANVQMTFLRLLSTEGSQNITYHCKNSIAYLDEAAGNLKKALLIQGSNDVEIRAEGNSRFTYTALKDGCTKHTGKWGKTVIEYRSQKTSRLPIIDIAPMDIGGPEQEFGVDIGPVCFL