sujigwak/NVAR huggingface dataset:
UniProt ID: P22680
Variant: F -> S at position 100-100
Variant annotation: in dbSNP:rs200836103
Protein function: A cytochrome P450 monooxygenase involved in the metabolism of endogenous cholesterol and its oxygenated derivatives (oxysterols) . Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase) . Functions as a critical regulatory enzyme of bile acid biosynthesis and cholesterol homeostasis. Catalyzes the hydroxylation of carbon hydrogen bond at 7-alpha position of cholesterol, a rate-limiting step in cholesterol catabolism and bile acid biosynthesis . 7-alpha hydroxylates several oxysterols, including 4beta-hydroxycholesterol and 24-hydroxycholesterol . Catalyzes the oxidation of the 7,8 double bond of 7-dehydrocholesterol and lathosterol with direct and predominant formation of the 7-keto derivatives .
Reference sequence:
MMTTSLIWGIAIAACCCLWLILGIRRRQTGEPPLENGLIPYLGCALQFGANPLEFLRANQRKHGHVFTCKLMGKYVHFITNPLSYHKVLCHGKYFDWKKFHFATSAKAFGHRSIDPMDGNTTENINDTFIKTLQGHALNSLTESMMENLQRIMRPPVSSNSKTAAWVTEGMYSFCYRVMFEAGYLTIFGRDLTRRDTQKAHILNNLDNFKQFDKVFPALVAGLPIHMFRTAHNAREKLAESLRHENLQKRESISELISLRMFLNDTLSTFDDLEKAKTHLVVLWASQANTIPATFWSLFQMIRNPEAMKAATEEVKRTLENAGQKVSLEGNPICLSQAELNDLPVLDSIIKESLRLSSASLNIRTAKEDFTLHLEDGSYNIRKDDIIALYPQLMHLDPEIYPDPLTFKYDRYLDENGKTKTTFYCNGLKLKYYYMPFGSGATICPGRLFAIHEIKQFLILMLSYFELELIEGQAKCPPLDQSRAGLGILPPLNDIEFKYKFKHL
UniProt ID: P22680
Variant: N -> S at position 233-233
Variant annotation: in dbSNP:rs8192874
Protein function: A cytochrome P450 monooxygenase involved in the metabolism of endogenous cholesterol and its oxygenated derivatives (oxysterols) . Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase) . Functions as a critical regulatory enzyme of bile acid biosynthesis and cholesterol homeostasis. Catalyzes the hydroxylation of carbon hydrogen bond at 7-alpha position of cholesterol, a rate-limiting step in cholesterol catabolism and bile acid biosynthesis . 7-alpha hydroxylates several oxysterols, including 4beta-hydroxycholesterol and 24-hydroxycholesterol . Catalyzes the oxidation of the 7,8 double bond of 7-dehydrocholesterol and lathosterol with direct and predominant formation of the 7-keto derivatives .
Reference sequence:
MMTTSLIWGIAIAACCCLWLILGIRRRQTGEPPLENGLIPYLGCALQFGANPLEFLRANQRKHGHVFTCKLMGKYVHFITNPLSYHKVLCHGKYFDWKKFHFATSAKAFGHRSIDPMDGNTTENINDTFIKTLQGHALNSLTESMMENLQRIMRPPVSSNSKTAAWVTEGMYSFCYRVMFEAGYLTIFGRDLTRRDTQKAHILNNLDNFKQFDKVFPALVAGLPIHMFRTAHNAREKLAESLRHENLQKRESISELISLRMFLNDTLSTFDDLEKAKTHLVVLWASQANTIPATFWSLFQMIRNPEAMKAATEEVKRTLENAGQKVSLEGNPICLSQAELNDLPVLDSIIKESLRLSSASLNIRTAKEDFTLHLEDGSYNIRKDDIIALYPQLMHLDPEIYPDPLTFKYDRYLDENGKTKTTFYCNGLKLKYYYMPFGSGATICPGRLFAIHEIKQFLILMLSYFELELIEGQAKCPPLDQSRAGLGILPPLNDIEFKYKFKHL
UniProt ID: P22680
Variant: D -> N at position 347-347
Variant annotation: in dbSNP:rs8192875
Protein function: A cytochrome P450 monooxygenase involved in the metabolism of endogenous cholesterol and its oxygenated derivatives (oxysterols) . Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase) . Functions as a critical regulatory enzyme of bile acid biosynthesis and cholesterol homeostasis. Catalyzes the hydroxylation of carbon hydrogen bond at 7-alpha position of cholesterol, a rate-limiting step in cholesterol catabolism and bile acid biosynthesis . 7-alpha hydroxylates several oxysterols, including 4beta-hydroxycholesterol and 24-hydroxycholesterol . Catalyzes the oxidation of the 7,8 double bond of 7-dehydrocholesterol and lathosterol with direct and predominant formation of the 7-keto derivatives .
Reference sequence:
MMTTSLIWGIAIAACCCLWLILGIRRRQTGEPPLENGLIPYLGCALQFGANPLEFLRANQRKHGHVFTCKLMGKYVHFITNPLSYHKVLCHGKYFDWKKFHFATSAKAFGHRSIDPMDGNTTENINDTFIKTLQGHALNSLTESMMENLQRIMRPPVSSNSKTAAWVTEGMYSFCYRVMFEAGYLTIFGRDLTRRDTQKAHILNNLDNFKQFDKVFPALVAGLPIHMFRTAHNAREKLAESLRHENLQKRESISELISLRMFLNDTLSTFDDLEKAKTHLVVLWASQANTIPATFWSLFQMIRNPEAMKAATEEVKRTLENAGQKVSLEGNPICLSQAELNDLPVLDSIIKESLRLSSASLNIRTAKEDFTLHLEDGSYNIRKDDIIALYPQLMHLDPEIYPDPLTFKYDRYLDENGKTKTTFYCNGLKLKYYYMPFGSGATICPGRLFAIHEIKQFLILMLSYFELELIEGQAKCPPLDQSRAGLGILPPLNDIEFKYKFKHL
UniProt ID: P22692
Variant: V -> G at position 42-42
Variant annotation: in dbSNP:rs599199
Protein function: IGF-binding proteins prolong the half-life of the IGFs and have been shown to either inhibit or stimulate the growth promoting effects of the IGFs on cell culture. They alter the interaction of IGFs with their cell surface receptors.
Reference sequence:
MLPLCLVAALLLAAGPGPSLGDEAIHCPPCSEEKLARCRPPVGCEELVREPGCGCCATCALGLGMPCGVYTPRCGSGLRCYPPRGVEKPLHTLMHGQGVCMELAEIEAIQESLQPSDKDEGDHPNNSFSPCSAHDRRCLQKHFAKIRDRSTSGGKMKVNGAPREDARPVPQGSCQSELHRALERLAASQSRTHEDLYIIPIPNCDRNGNFHPKQCHPALDGQRGKCWCVDRKTGVKLPGGLEPKGELDCHQLADSFRE
UniProt ID: P22711
Variant: G -> S at position 12-12
Variant annotation: in strain: S-521F
Protein function: Required for the development of heart and visceral muscle; for the formation of somatic muscles. Has a crucial function in the early mesodermal subdivisions.
Reference sequence:
MLQHHQQQAQSGGYYDHYTQSPSPGSLTNADALNTTPFSVKDILNMVNQTEAYEGSYGHIDGAATASALFAAGEYQNPHQYLNHQQHQQSELPIPQQQLHHQHLDDGATTSSSLSPLLPPPPHQLYGGYQDYGMPAHMFQHHHGHPHQSFQHSASAYNMSASQFYAGASATAYQTPATYNYNYAGSGEVYGGATPSAVGIKSEYIPTPYVTPSPTLDLNSSAEVDSLQAPTQKLCVNPLSQRLMETASNSSSLRSIYGSDEGAKKKDNSQVTSSRSELRKNSISGNSNPGSNSGSTKPRMKRKPRVLFSQAQVLELECRFRLKKYLTGAEREIIAQKLNLSATQVKIWFQNRRYKSKRGDIDCEGIAKHLKLKSEPLDSPTSLPPPIPNHVMWPPTMQQSQQQQQHHAQQQQMQHM
UniProt ID: P22711
Variant: A -> G at position 71-71
Variant annotation: in strain: F-96S, F-775F, S-26F, S-438S, S-483F, S-510S, S-521S, S-549S, S-565F, S-968F and US-255F
Protein function: Required for the development of heart and visceral muscle; for the formation of somatic muscles. Has a crucial function in the early mesodermal subdivisions.
Reference sequence:
MLQHHQQQAQSGGYYDHYTQSPSPGSLTNADALNTTPFSVKDILNMVNQTEAYEGSYGHIDGAATASALFAAGEYQNPHQYLNHQQHQQSELPIPQQQLHHQHLDDGATTSSSLSPLLPPPPHQLYGGYQDYGMPAHMFQHHHGHPHQSFQHSASAYNMSASQFYAGASATAYQTPATYNYNYAGSGEVYGGATPSAVGIKSEYIPTPYVTPSPTLDLNSSAEVDSLQAPTQKLCVNPLSQRLMETASNSSSLRSIYGSDEGAKKKDNSQVTSSRSELRKNSISGNSNPGSNSGSTKPRMKRKPRVLFSQAQVLELECRFRLKKYLTGAEREIIAQKLNLSATQVKIWFQNRRYKSKRGDIDCEGIAKHLKLKSEPLDSPTSLPPPIPNHVMWPPTMQQSQQQQQHHAQQQQMQHM
UniProt ID: P22711
Variant: Y -> N at position 173-173
Variant annotation: in strain: S-5F
Protein function: Required for the development of heart and visceral muscle; for the formation of somatic muscles. Has a crucial function in the early mesodermal subdivisions.
Reference sequence:
MLQHHQQQAQSGGYYDHYTQSPSPGSLTNADALNTTPFSVKDILNMVNQTEAYEGSYGHIDGAATASALFAAGEYQNPHQYLNHQQHQQSELPIPQQQLHHQHLDDGATTSSSLSPLLPPPPHQLYGGYQDYGMPAHMFQHHHGHPHQSFQHSASAYNMSASQFYAGASATAYQTPATYNYNYAGSGEVYGGATPSAVGIKSEYIPTPYVTPSPTLDLNSSAEVDSLQAPTQKLCVNPLSQRLMETASNSSSLRSIYGSDEGAKKKDNSQVTSSRSELRKNSISGNSNPGSNSGSTKPRMKRKPRVLFSQAQVLELECRFRLKKYLTGAEREIIAQKLNLSATQVKIWFQNRRYKSKRGDIDCEGIAKHLKLKSEPLDSPTSLPPPIPNHVMWPPTMQQSQQQQQHHAQQQQMQHM
UniProt ID: P22711
Variant: P -> A at position 238-238
Variant annotation: in strain: S-255S
Protein function: Required for the development of heart and visceral muscle; for the formation of somatic muscles. Has a crucial function in the early mesodermal subdivisions.
Reference sequence:
MLQHHQQQAQSGGYYDHYTQSPSPGSLTNADALNTTPFSVKDILNMVNQTEAYEGSYGHIDGAATASALFAAGEYQNPHQYLNHQQHQQSELPIPQQQLHHQHLDDGATTSSSLSPLLPPPPHQLYGGYQDYGMPAHMFQHHHGHPHQSFQHSASAYNMSASQFYAGASATAYQTPATYNYNYAGSGEVYGGATPSAVGIKSEYIPTPYVTPSPTLDLNSSAEVDSLQAPTQKLCVNPLSQRLMETASNSSSLRSIYGSDEGAKKKDNSQVTSSRSELRKNSISGNSNPGSNSGSTKPRMKRKPRVLFSQAQVLELECRFRLKKYLTGAEREIIAQKLNLSATQVKIWFQNRRYKSKRGDIDCEGIAKHLKLKSEPLDSPTSLPPPIPNHVMWPPTMQQSQQQQQHHAQQQQMQHM
UniProt ID: P22748
Variant: A -> T at position 12-12
Variant annotation: in RP17; dbSNP:rs1245199379
Protein function: Catalyzes the reversible hydration of carbon dioxide into bicarbonate and protons and thus is essential to maintaining intracellular and extracellular pH . May stimulate the sodium/bicarbonate transporter activity of SLC4A4 that acts in pH homeostasis . It is essential for acid overload removal from the retina and retina epithelium, and acid release in the choriocapillaris in the choroid .
Reference sequence:
MRMLLALLALSAARPSASAESHWCYEVQAESSNYPCLVPVKWGGNCQKDRQSPINIVTTKAKVDKKLGRFFFSGYDKKQTWTVQNNGHSVMMLLENKASISGGGLPAPYQAKQLHLHWSDLPYKGSEHSLDGEHFAMEMHIVHEKEKGTSRNVKEAQDPEDEIAVLAFLVEAGTQVNEGFQPLVEALSNIPKPEMSTTMAESSLLDLLPKEEKLRHYFRYLGSLTTPTCDEKVVWTVFREPIQLHREQILAFSQKLYYDKEQTVSMKDNVRPLQQLGQRTVIKSGAPGRPLPWALPALLGPMLACLLAGFLR
UniProt ID: P22748
Variant: R -> W at position 14-14
Variant annotation: in RP17; abolishes interaction with SLC4A4; impaired SLC4A4 cotransporter activity stimulation; dbSNP:rs104894559
Protein function: Catalyzes the reversible hydration of carbon dioxide into bicarbonate and protons and thus is essential to maintaining intracellular and extracellular pH . May stimulate the sodium/bicarbonate transporter activity of SLC4A4 that acts in pH homeostasis . It is essential for acid overload removal from the retina and retina epithelium, and acid release in the choriocapillaris in the choroid .
Reference sequence:
MRMLLALLALSAARPSASAESHWCYEVQAESSNYPCLVPVKWGGNCQKDRQSPINIVTTKAKVDKKLGRFFFSGYDKKQTWTVQNNGHSVMMLLENKASISGGGLPAPYQAKQLHLHWSDLPYKGSEHSLDGEHFAMEMHIVHEKEKGTSRNVKEAQDPEDEIAVLAFLVEAGTQVNEGFQPLVEALSNIPKPEMSTTMAESSLLDLLPKEEKLRHYFRYLGSLTTPTCDEKVVWTVFREPIQLHREQILAFSQKLYYDKEQTVSMKDNVRPLQQLGQRTVIKSGAPGRPLPWALPALLGPMLACLLAGFLR
UniProt ID: P22748
Variant: R -> H at position 69-69
Variant annotation: in RP17; has no effect on carbonate dehydratase activity; loss of interaction with SLC4A4; dbSNP:rs121434552
Effect: loss
Target: interaction with slc4a4
Protein function: Catalyzes the reversible hydration of carbon dioxide into bicarbonate and protons and thus is essential to maintaining intracellular and extracellular pH . May stimulate the sodium/bicarbonate transporter activity of SLC4A4 that acts in pH homeostasis . It is essential for acid overload removal from the retina and retina epithelium, and acid release in the choriocapillaris in the choroid .
Reference sequence:
MRMLLALLALSAARPSASAESHWCYEVQAESSNYPCLVPVKWGGNCQKDRQSPINIVTTKAKVDKKLGRFFFSGYDKKQTWTVQNNGHSVMMLLENKASISGGGLPAPYQAKQLHLHWSDLPYKGSEHSLDGEHFAMEMHIVHEKEKGTSRNVKEAQDPEDEIAVLAFLVEAGTQVNEGFQPLVEALSNIPKPEMSTTMAESSLLDLLPKEEKLRHYFRYLGSLTTPTCDEKVVWTVFREPIQLHREQILAFSQKLYYDKEQTVSMKDNVRPLQQLGQRTVIKSGAPGRPLPWALPALLGPMLACLLAGFLR
UniProt ID: P22748
Variant: N -> K at position 177-177
Variant annotation: in dbSNP:rs185942554
Protein function: Catalyzes the reversible hydration of carbon dioxide into bicarbonate and protons and thus is essential to maintaining intracellular and extracellular pH . May stimulate the sodium/bicarbonate transporter activity of SLC4A4 that acts in pH homeostasis . It is essential for acid overload removal from the retina and retina epithelium, and acid release in the choriocapillaris in the choroid .
Reference sequence:
MRMLLALLALSAARPSASAESHWCYEVQAESSNYPCLVPVKWGGNCQKDRQSPINIVTTKAKVDKKLGRFFFSGYDKKQTWTVQNNGHSVMMLLENKASISGGGLPAPYQAKQLHLHWSDLPYKGSEHSLDGEHFAMEMHIVHEKEKGTSRNVKEAQDPEDEIAVLAFLVEAGTQVNEGFQPLVEALSNIPKPEMSTTMAESSLLDLLPKEEKLRHYFRYLGSLTTPTCDEKVVWTVFREPIQLHREQILAFSQKLYYDKEQTVSMKDNVRPLQQLGQRTVIKSGAPGRPLPWALPALLGPMLACLLAGFLR
UniProt ID: P22748
Variant: R -> S at position 219-219
Variant annotation: in RP17; abolishes carbonate dehydratase activity; impaired SLC4A4 cotransporter activity stimulation; dbSNP:rs121434551
Protein function: Catalyzes the reversible hydration of carbon dioxide into bicarbonate and protons and thus is essential to maintaining intracellular and extracellular pH . May stimulate the sodium/bicarbonate transporter activity of SLC4A4 that acts in pH homeostasis . It is essential for acid overload removal from the retina and retina epithelium, and acid release in the choriocapillaris in the choroid .
Reference sequence:
MRMLLALLALSAARPSASAESHWCYEVQAESSNYPCLVPVKWGGNCQKDRQSPINIVTTKAKVDKKLGRFFFSGYDKKQTWTVQNNGHSVMMLLENKASISGGGLPAPYQAKQLHLHWSDLPYKGSEHSLDGEHFAMEMHIVHEKEKGTSRNVKEAQDPEDEIAVLAFLVEAGTQVNEGFQPLVEALSNIPKPEMSTTMAESSLLDLLPKEEKLRHYFRYLGSLTTPTCDEKVVWTVFREPIQLHREQILAFSQKLYYDKEQTVSMKDNVRPLQQLGQRTVIKSGAPGRPLPWALPALLGPMLACLLAGFLR
UniProt ID: P22748
Variant: V -> L at position 237-237
Variant annotation: in dbSNP:rs2229178
Protein function: Catalyzes the reversible hydration of carbon dioxide into bicarbonate and protons and thus is essential to maintaining intracellular and extracellular pH . May stimulate the sodium/bicarbonate transporter activity of SLC4A4 that acts in pH homeostasis . It is essential for acid overload removal from the retina and retina epithelium, and acid release in the choriocapillaris in the choroid .
Reference sequence:
MRMLLALLALSAARPSASAESHWCYEVQAESSNYPCLVPVKWGGNCQKDRQSPINIVTTKAKVDKKLGRFFFSGYDKKQTWTVQNNGHSVMMLLENKASISGGGLPAPYQAKQLHLHWSDLPYKGSEHSLDGEHFAMEMHIVHEKEKGTSRNVKEAQDPEDEIAVLAFLVEAGTQVNEGFQPLVEALSNIPKPEMSTTMAESSLLDLLPKEEKLRHYFRYLGSLTTPTCDEKVVWTVFREPIQLHREQILAFSQKLYYDKEQTVSMKDNVRPLQQLGQRTVIKSGAPGRPLPWALPALLGPMLACLLAGFLR
UniProt ID: P22760
Variant: V -> I at position 281-281
Variant annotation: in alleles AADAC*2 and AADAC*3; mildly decreased enzyme activity; dbSNP:rs1803155
Protein function: Displays cellular triglyceride lipase activity in liver, increases the levels of intracellular fatty acids derived from the hydrolysis of newly formed triglyceride stores and plays a role in very low-density lipoprotein assembly. Displays serine esterase activity in liver. Deacetylates a variety of arylacetamide substrates, including xenobiotic compounds and procarcinogens, converting them to the primary arylamide compounds and increasing their toxicity.
Reference sequence:
MGRKSLYLLIVGILIAYYIYTPLPDNVEEPWRMMWINAHLKTIQNLATFVELLGLHHFMDSFKVVGSFDEVPPTSDENVTVTETKFNNILVRVYVPKRKSEALRRGLFYIHGGGWCVGSAALSGYDLLSRWTADRLDAVVVSTNYRLAPKYHFPIQFEDVYNALRWFLRKKVLAKYGVNPERIGISGDSAGGNLAAAVTQQLLDDPDVKIKLKIQSLIYPALQPLDVDLPSYQENSNFLFLSKSLMVRFWSEYFTTDRSLEKAMLSRQHVPVESSHLFKFVNWSSLLPERFIKGHVYNNPNYGSSELAKKYPGFLDVRAAPLLADDNKLRGLPLTYVITCQYDLLRDDGLMYVTRLRNTGVQVTHNHVEDGFHGAFSFLGLKISHRLINQYIEWLKENL
UniProt ID: P22760
Variant: L -> LQ at position 399-399
Variant annotation: in allele AADAC*3; decreased enzyme activity
Protein function: Displays cellular triglyceride lipase activity in liver, increases the levels of intracellular fatty acids derived from the hydrolysis of newly formed triglyceride stores and plays a role in very low-density lipoprotein assembly. Displays serine esterase activity in liver. Deacetylates a variety of arylacetamide substrates, including xenobiotic compounds and procarcinogens, converting them to the primary arylamide compounds and increasing their toxicity.
Reference sequence:
MGRKSLYLLIVGILIAYYIYTPLPDNVEEPWRMMWINAHLKTIQNLATFVELLGLHHFMDSFKVVGSFDEVPPTSDENVTVTETKFNNILVRVYVPKRKSEALRRGLFYIHGGGWCVGSAALSGYDLLSRWTADRLDAVVVSTNYRLAPKYHFPIQFEDVYNALRWFLRKKVLAKYGVNPERIGISGDSAGGNLAAAVTQQLLDDPDVKIKLKIQSLIYPALQPLDVDLPSYQENSNFLFLSKSLMVRFWSEYFTTDRSLEKAMLSRQHVPVESSHLFKFVNWSSLLPERFIKGHVYNNPNYGSSELAKKYPGFLDVRAAPLLADDNKLRGLPLTYVITCQYDLLRDDGLMYVTRLRNTGVQVTHNHVEDGFHGAFSFLGLKISHRLINQYIEWLKENL
UniProt ID: P22766
Variant: P -> E at position 3-3
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:
GFPVPDPFIWDASFKTFYDDLDNQHKQLFQAILTQGNVGGATAGDNAYACLVAHFLFEEAAMQVAKYGGYGAHKAAHEEFLGKVKGGSADAAYCKDWLTQHIKTIDFKYKGKL
UniProt ID: P22766
Variant: W -> D at position 10-10
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:
GFPVPDPFIWDASFKTFYDDLDNQHKQLFQAILTQGNVGGATAGDNAYACLVAHFLFEEAAMQVAKYGGYGAHKAAHEEFLGKVKGGSADAAYCKDWLTQHIKTIDFKYKGKL
UniProt ID: P22766
Variant: A -> G at position 60-60
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:
GFPVPDPFIWDASFKTFYDDLDNQHKQLFQAILTQGNVGGATAGDNAYACLVAHFLFEEAAMQVAKYGGYGAHKAAHEEFLGKVKGGSADAAYCKDWLTQHIKTIDFKYKGKL
UniProt ID: P22766
Variant: K -> N at position 66-66
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:
GFPVPDPFIWDASFKTFYDDLDNQHKQLFQAILTQGNVGGATAGDNAYACLVAHFLFEEAAMQVAKYGGYGAHKAAHEEFLGKVKGGSADAAYCKDWLTQHIKTIDFKYKGKL
UniProt ID: P22766
Variant: K -> Q at position 83-83
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:
GFPVPDPFIWDASFKTFYDDLDNQHKQLFQAILTQGNVGGATAGDNAYACLVAHFLFEEAAMQVAKYGGYGAHKAAHEEFLGKVKGGSADAAYCKDWLTQHIKTIDFKYKGKL
UniProt ID: P22771
Variant: E -> G at position 194-194
Variant annotation: increased sensitivity to strychnine
Protein function: Glycine receptors are ligand-gated chloride channels. Channel opening is triggered by extracellular glycine. Channel opening is also triggered by taurine and beta-alanine . Plays a role in the down-regulation of neuronal excitability. Contributes to the generation of inhibitory postsynaptic currents. Plays a role in cellular responses to ethanol.
Reference sequence:
MNRQLVNILTALFAFFLGTNHFREAFCKDHDSRSGKHPSQTLSPSDFLDKLMGRTSGYDARIRPNFKGPPVNVTCNIFINSFGSVTETTMDYRVNIFLRQQWNDSRLAYSEYPDDSLDLDPSMLDSIWKPDLFFANEKGANFHDVTTDNKLLRISKNGKVLYSIRLTLTLSCPMDLKNFPMDVQTCTMQLESFEYTMNDLIFEWLSDGPVQVAEGLTLPQFILKEEKELGYCTKHYNTGKFTCIEVKFHLERQMGYYLIQMYIPSLLIVILSWVSFWINMDAAPARVALGITTVLTMTTQSSGSRASLPKVSYVKAIDIWMAVCLLFVFAALLEYAAVNFVSRQHKEFLRLRRRQKRQNKEEDVTRESRFNFSGYGMGHCLQVKDGTAVKATPANPLPQPPKDADAIKKKFVDRAKRIDTISRAAFPLAFLIFNIFYWITYKIIRHEDVHKK
UniProt ID: P22778
Variant: T -> A at position 4-4
Protein function: Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(0) domain and the peripheric stalk, which acts as a stator to hold the catalytic alpha(3)beta(3) subcomplex and subunit a/ATP6 static relative to the rotary elements.
Reference sequence:
MAMTGRARSMGFSILQKALSSAQRSNAHRSILCPTLSNSELLRNYATASASKEQKIKVPLTMYGVSGNYASALYLAAVKSNTLEKVESELYDLVEASKKSPTFSQFMRDPSVPVDTRVNAIKEICAQAKFGDTTQNFLLILAENGRLKHIDRIVKRFKELTMAHRGEVKATVTTVIPLPADEEKELKATLQEMVGQGKSVQIEQKIDPTILGGLVVEFGQKVFDMSIRTRARQMERFLREPLNF
UniProt ID: P22796
Variant: I -> T at position 134-134
Protein function: Snake venom zinc metalloproteinase that induces hemorrhage.
Reference sequence:
FSQKYIELVVVADHGMFTKYNGNLNTIRTRVHEIVNTLNGFYRSLNILISLTDLEIWSNQDLINVQSAANDTLKTFGEWRERVLLNRISHDNAQLLTAIDLADNTIGIAYTGGMCYPKNSVGIVQDHSPKTLLIAVTMAHELGHNLGMKHDENHCHCSASFCIMPPSISEGPSYEFSDCSKDYYQMFLTKRKPQCILNKP
UniProt ID: P22809
Variant: I -> A at position 62-62
Variant annotation: in strain: F-96S, F-274F, S-26F, S-94F, S-377F, S-510S, S-521F, S-521S, S-565F, S-968F and US-255F
Protein function: Involved in the determination of cell fates in the dorsal mesoderm.
Reference sequence:
MLNMESAGVSAAMAGLSKSLTTPFSINDILTRSNPETRRMSSVDSEPEPEKLKPSSDRERSISKSPPLCCRDLGLYKLTQPKEIQPSARQPSNYLQYYAAAMDNNNHHHQATGTSNSSAADYMQRKLAYFGSTLAAPLDMRRCTSNDSDCDSPPPLSSSPSESPLSHDGSGLSRKKRSRAAFSHAQVFELERRFAQQRYLSGPERSEMAKSLRLTETQVKIWFQNRRYKTKRKQIQQHEAALLGASKRVPVQVLVREDGSTTYAHMAAPGAGHGLDPALINIYRHQLQLAYGGLPLPQMQMPFPYFYPQHKVPQPIPPPTQSSSFVTASSASSSPVPIPIPGAVRPQRTPCPSPNGQMMSVESGAESVHSAAEDVDENVEID
UniProt ID: P22809
Variant: I -> V at position 62-62
Variant annotation: in strain: F-775F, S-549S and S-1224F
Protein function: Involved in the determination of cell fates in the dorsal mesoderm.
Reference sequence:
MLNMESAGVSAAMAGLSKSLTTPFSINDILTRSNPETRRMSSVDSEPEPEKLKPSSDRERSISKSPPLCCRDLGLYKLTQPKEIQPSARQPSNYLQYYAAAMDNNNHHHQATGTSNSSAADYMQRKLAYFGSTLAAPLDMRRCTSNDSDCDSPPPLSSSPSESPLSHDGSGLSRKKRSRAAFSHAQVFELERRFAQQRYLSGPERSEMAKSLRLTETQVKIWFQNRRYKTKRKQIQQHEAALLGASKRVPVQVLVREDGSTTYAHMAAPGAGHGLDPALINIYRHQLQLAYGGLPLPQMQMPFPYFYPQHKVPQPIPPPTQSSSFVTASSASSSPVPIPIPGAVRPQRTPCPSPNGQMMSVESGAESVHSAAEDVDENVEID
UniProt ID: P22809
Variant: G -> S at position 74-74
Variant annotation: in strain: F-775F, S-549S and S-1224F
Protein function: Involved in the determination of cell fates in the dorsal mesoderm.
Reference sequence:
MLNMESAGVSAAMAGLSKSLTTPFSINDILTRSNPETRRMSSVDSEPEPEKLKPSSDRERSISKSPPLCCRDLGLYKLTQPKEIQPSARQPSNYLQYYAAAMDNNNHHHQATGTSNSSAADYMQRKLAYFGSTLAAPLDMRRCTSNDSDCDSPPPLSSSPSESPLSHDGSGLSRKKRSRAAFSHAQVFELERRFAQQRYLSGPERSEMAKSLRLTETQVKIWFQNRRYKTKRKQIQQHEAALLGASKRVPVQVLVREDGSTTYAHMAAPGAGHGLDPALINIYRHQLQLAYGGLPLPQMQMPFPYFYPQHKVPQPIPPPTQSSSFVTASSASSSPVPIPIPGAVRPQRTPCPSPNGQMMSVESGAESVHSAAEDVDENVEID
UniProt ID: P22809
Variant: T -> N at position 327-327
Variant annotation: in strain: S-26F, S-94F, S-438S, S-510S and S-521F
Protein function: Involved in the determination of cell fates in the dorsal mesoderm.
Reference sequence:
MLNMESAGVSAAMAGLSKSLTTPFSINDILTRSNPETRRMSSVDSEPEPEKLKPSSDRERSISKSPPLCCRDLGLYKLTQPKEIQPSARQPSNYLQYYAAAMDNNNHHHQATGTSNSSAADYMQRKLAYFGSTLAAPLDMRRCTSNDSDCDSPPPLSSSPSESPLSHDGSGLSRKKRSRAAFSHAQVFELERRFAQQRYLSGPERSEMAKSLRLTETQVKIWFQNRRYKTKRKQIQQHEAALLGASKRVPVQVLVREDGSTTYAHMAAPGAGHGLDPALINIYRHQLQLAYGGLPLPQMQMPFPYFYPQHKVPQPIPPPTQSSSFVTASSASSSPVPIPIPGAVRPQRTPCPSPNGQMMSVESGAESVHSAAEDVDENVEID
UniProt ID: P22809
Variant: G -> S at position 342-342
Variant annotation: in strain: S-26F, S-94F, S-438S, S-510S and S-521F
Protein function: Involved in the determination of cell fates in the dorsal mesoderm.
Reference sequence:
MLNMESAGVSAAMAGLSKSLTTPFSINDILTRSNPETRRMSSVDSEPEPEKLKPSSDRERSISKSPPLCCRDLGLYKLTQPKEIQPSARQPSNYLQYYAAAMDNNNHHHQATGTSNSSAADYMQRKLAYFGSTLAAPLDMRRCTSNDSDCDSPPPLSSSPSESPLSHDGSGLSRKKRSRAAFSHAQVFELERRFAQQRYLSGPERSEMAKSLRLTETQVKIWFQNRRYKTKRKQIQQHEAALLGASKRVPVQVLVREDGSTTYAHMAAPGAGHGLDPALINIYRHQLQLAYGGLPLPQMQMPFPYFYPQHKVPQPIPPPTQSSSFVTASSASSSPVPIPIPGAVRPQRTPCPSPNGQMMSVESGAESVHSAAEDVDENVEID
UniProt ID: P22809
Variant: S -> SGAES at position 367-367
Variant annotation: in strain: S-521S, S-968F and US-255F
Protein function: Involved in the determination of cell fates in the dorsal mesoderm.
Reference sequence:
MLNMESAGVSAAMAGLSKSLTTPFSINDILTRSNPETRRMSSVDSEPEPEKLKPSSDRERSISKSPPLCCRDLGLYKLTQPKEIQPSARQPSNYLQYYAAAMDNNNHHHQATGTSNSSAADYMQRKLAYFGSTLAAPLDMRRCTSNDSDCDSPPPLSSSPSESPLSHDGSGLSRKKRSRAAFSHAQVFELERRFAQQRYLSGPERSEMAKSLRLTETQVKIWFQNRRYKTKRKQIQQHEAALLGASKRVPVQVLVREDGSTTYAHMAAPGAGHGLDPALINIYRHQLQLAYGGLPLPQMQMPFPYFYPQHKVPQPIPPPTQSSSFVTASSASSSPVPIPIPGAVRPQRTPCPSPNGQMMSVESGAESVHSAAEDVDENVEID
UniProt ID: P22809
Variant: H -> Q at position 369-369
Variant annotation: in strain: F-611F
Protein function: Involved in the determination of cell fates in the dorsal mesoderm.
Reference sequence:
MLNMESAGVSAAMAGLSKSLTTPFSINDILTRSNPETRRMSSVDSEPEPEKLKPSSDRERSISKSPPLCCRDLGLYKLTQPKEIQPSARQPSNYLQYYAAAMDNNNHHHQATGTSNSSAADYMQRKLAYFGSTLAAPLDMRRCTSNDSDCDSPPPLSSSPSESPLSHDGSGLSRKKRSRAAFSHAQVFELERRFAQQRYLSGPERSEMAKSLRLTETQVKIWFQNRRYKTKRKQIQQHEAALLGASKRVPVQVLVREDGSTTYAHMAAPGAGHGLDPALINIYRHQLQLAYGGLPLPQMQMPFPYFYPQHKVPQPIPPPTQSSSFVTASSASSSPVPIPIPGAVRPQRTPCPSPNGQMMSVESGAESVHSAAEDVDENVEID