sujigwak/NVAR huggingface dataset:
UniProt ID: Q86YW0
Variant: I -> F at position 489-489
Variant annotation: in SPGF17; loss of function in egg activation; dbSNP:rs757326350
Effect: loss
Target: function in egg activation
Protein function: The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. In vitro, hydrolyzes PtdIns(4,5)P2 in a Ca(2+)-dependent manner. Triggers intracellular Ca(2+) oscillations in oocytes solely during M phase and is involved in inducing oocyte activation and initiating embryonic development up to the blastocyst stage. Is therefore a strong candidate for the egg-activating soluble sperm factor that is transferred from the sperm into the egg cytoplasm following gamete membrane fusion. May exert an inhibitory effect on phospholipase-C-coupled processes that depend on calcium ions and protein kinase C, including CFTR trafficking and function.
Reference sequence:
MEMRWFLSKIQDDFRGGKINLEKTQRLLEKLDIRCSYIHVKQIFKDNDRLKQGRITIEEFRAIYRIITHREEIIEIFNTYSENRKILLASNLAQFLTQEQYAAEMSKAIAFEIIQKYEPIEEVRKAHQMSLEGFTRYMDSRECLLFKNECRKVYQDMTHPLNDYFISSSHNTYLVSDQLLGPSDLWGYVSALVKGCRCLEIDCWDGAQNEPVVYHGYTLTSKLLFKTVIQAIHKYAFMTSDYPVVLSLENHCSTAQQEVMADNLQATFGESLLSDMLDDFPDTLPSPEALKFKILVKNKKIGTLKETHERKGSDKRGDNQDKETGVKKLPGVMLFKKKKTRKLKIALALSDLVIYTKAEKFKSFQHSRLYQQFNENNSIGETQARKLSKLRVHEFIFHTRKFITRIYPKATRADSSNFNPQEFWNIGCQMVALNFQTPGLPMDLQNGKFLDNGGSGYILKPHFLRESKSYFNPSNIKEGMPITLTIRLISGIQLPLTHSSSNKGDSLVIIEVFGVPNDQMKQQTRVIKKNAFSPRWNETFTFIIHVPELALIRFVVEGQGLIAGNEFLGQYTLPLLCMNKGYRRIPLFSRMGESLEPASLFVYVWYVR
UniProt ID: Q86YW0
Variant: S -> L at position 500-500
Variant annotation: in dbSNP:rs10505830
Protein function: The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. In vitro, hydrolyzes PtdIns(4,5)P2 in a Ca(2+)-dependent manner. Triggers intracellular Ca(2+) oscillations in oocytes solely during M phase and is involved in inducing oocyte activation and initiating embryonic development up to the blastocyst stage. Is therefore a strong candidate for the egg-activating soluble sperm factor that is transferred from the sperm into the egg cytoplasm following gamete membrane fusion. May exert an inhibitory effect on phospholipase-C-coupled processes that depend on calcium ions and protein kinase C, including CFTR trafficking and function.
Reference sequence:
MEMRWFLSKIQDDFRGGKINLEKTQRLLEKLDIRCSYIHVKQIFKDNDRLKQGRITIEEFRAIYRIITHREEIIEIFNTYSENRKILLASNLAQFLTQEQYAAEMSKAIAFEIIQKYEPIEEVRKAHQMSLEGFTRYMDSRECLLFKNECRKVYQDMTHPLNDYFISSSHNTYLVSDQLLGPSDLWGYVSALVKGCRCLEIDCWDGAQNEPVVYHGYTLTSKLLFKTVIQAIHKYAFMTSDYPVVLSLENHCSTAQQEVMADNLQATFGESLLSDMLDDFPDTLPSPEALKFKILVKNKKIGTLKETHERKGSDKRGDNQDKETGVKKLPGVMLFKKKKTRKLKIALALSDLVIYTKAEKFKSFQHSRLYQQFNENNSIGETQARKLSKLRVHEFIFHTRKFITRIYPKATRADSSNFNPQEFWNIGCQMVALNFQTPGLPMDLQNGKFLDNGGSGYILKPHFLRESKSYFNPSNIKEGMPITLTIRLISGIQLPLTHSSSNKGDSLVIIEVFGVPNDQMKQQTRVIKKNAFSPRWNETFTFIIHVPELALIRFVVEGQGLIAGNEFLGQYTLPLLCMNKGYRRIPLFSRMGESLEPASLFVYVWYVR
UniProt ID: Q86Z02
Variant: Q -> R at position 6-6
Variant annotation: in dbSNP:rs35324789
Protein function: Serine/threonine-protein kinase involved in transcription regulation and TNF-mediated cellular apoptosis. Plays a role as a corepressor for homeodomain transcription factors. Phosphorylates DAXX and MYB. Phosphorylates DAXX in response to stress, and mediates its translocation from the nucleus to the cytoplasm. Inactivates MYB transcription factor activity by phosphorylation. Prevents MAP3K5-JNK activation in the absence of TNF. TNF triggers its translocation to the cytoplasm in response to stress stimuli, thus activating nuclear MAP3K5-JNK by derepression and promoting apoptosis. May be involved in anti-oxidative stress responses. Involved in the regulation of eye size, lens formation and retinal lamination during late embryogenesis. Promotes angiogenesis and to be involved in erythroid differentiation. May be involved in malignant squamous cell tumor formation. Phosphorylates PAGE4 at 'Thr-51' which is critical for the ability of PAGE4 to potentiate the transcriptional activator activity of JUN .
Reference sequence:
MASQLQVFSPPSVSSSAFCSAKKLKIEPSGWDVSGQSSNDKYYTHSKTLPATQGQANSSHQVANFNIPAYDQGLLLPAPAVEHIVVTAADSSGSAATSTFQSSQTLTHRSNVSLLEPYQKCGLKRKSEEVDSNGSVQIIEEHPPLMLQNRTVVGAAATTTTVTTKSSSSSGEGDYQLVQHEILCSMTNSYEVLEFLGRGTFGQVAKCWKRSTKEIVAIKILKNHPSYARQGQIEVSILSRLSSENADEYNFVRSYECFQHKNHTCLVFEMLEQNLYDFLKQNKFSPLPLKYIRPILQQVATALMKLKSLGLIHADLKPENIMLVDPVRQPYRVKVIDFGSASHVSKAVCSTYLQSRYYRAPEIILGLPFCEAIDMWSLGCVIAELFLGWPLYPGASEYDQIRYISQTQGLPAEYLLSAGTKTTRFFNRDPNLGYPLWRLKTPEEHELETGIKSKEARKYIFNCLDDMAQVNMSTDLEGTDMLAEKADRREYIDLLKKMLTIDADKRITPLKTLNHQFVTMTHLLDFPHSNHVKSCFQNMEICKRRVHMYDTVSQIKSPFTTHVAPNTSTNLTMSFSNQLNTVHNQASVLASSSTAAAATLSLANSDVSLLNYQSALYPSSAAPVPGVAQQGVSLQPGTTQICTQTDPFQQTFIVCPPAFQTGLQATTKHSGFPVRMDNAVPIVPQAPAAQPLQIQSGVLTQGSCTPLMVATLHPQVATITPQYAVPFTLSCAAGRPALVEQTAAVLQAWPGGTQQILLPSTWQQLPGVALHNSVQPTAMIPEAMGSGQQLADWRNAHSHGNQYSTIMQQPSLLTNHVTLATAQPLNVGVAHVVRQQQSSSLPSKKNKQSAPVSSKSSLDVLPSQVYSLVGSSPLRTTSSYNSLVPVQDQHQPIIIPDTPSPPVSVITIRSDTDEEEDNKYKPSSSGLKPRSNVISYVTVNDSPDSDSSLSSPYSTDTLSALRGNSGSVLEGPGRVVADGTGTRTIIVPPLKTQLGDCTVATQASGLLSNKTKPVASVSGQSSGCCITPTGYRAQRGGTSAAQPLNLSQNQQSSAAPTSQERSSNPAPRRQQAFVAPLSQAPYTFQHGSPLHSTGHPHLAPAPAHLPSQAHLYTYAAPTSAAALGSTSSIAHLFSPQGSSRHAAAYTTHPSTLVHQVPVSVGPSLLTSASVAPAQYQHQFATQSYIGSSRGSTIYTGYPLSPTKISQYSYL
UniProt ID: Q86Z02
Variant: G -> C at position 310-310
Variant annotation: in dbSNP:rs34335651
Protein function: Serine/threonine-protein kinase involved in transcription regulation and TNF-mediated cellular apoptosis. Plays a role as a corepressor for homeodomain transcription factors. Phosphorylates DAXX and MYB. Phosphorylates DAXX in response to stress, and mediates its translocation from the nucleus to the cytoplasm. Inactivates MYB transcription factor activity by phosphorylation. Prevents MAP3K5-JNK activation in the absence of TNF. TNF triggers its translocation to the cytoplasm in response to stress stimuli, thus activating nuclear MAP3K5-JNK by derepression and promoting apoptosis. May be involved in anti-oxidative stress responses. Involved in the regulation of eye size, lens formation and retinal lamination during late embryogenesis. Promotes angiogenesis and to be involved in erythroid differentiation. May be involved in malignant squamous cell tumor formation. Phosphorylates PAGE4 at 'Thr-51' which is critical for the ability of PAGE4 to potentiate the transcriptional activator activity of JUN .
Reference sequence:
MASQLQVFSPPSVSSSAFCSAKKLKIEPSGWDVSGQSSNDKYYTHSKTLPATQGQANSSHQVANFNIPAYDQGLLLPAPAVEHIVVTAADSSGSAATSTFQSSQTLTHRSNVSLLEPYQKCGLKRKSEEVDSNGSVQIIEEHPPLMLQNRTVVGAAATTTTVTTKSSSSSGEGDYQLVQHEILCSMTNSYEVLEFLGRGTFGQVAKCWKRSTKEIVAIKILKNHPSYARQGQIEVSILSRLSSENADEYNFVRSYECFQHKNHTCLVFEMLEQNLYDFLKQNKFSPLPLKYIRPILQQVATALMKLKSLGLIHADLKPENIMLVDPVRQPYRVKVIDFGSASHVSKAVCSTYLQSRYYRAPEIILGLPFCEAIDMWSLGCVIAELFLGWPLYPGASEYDQIRYISQTQGLPAEYLLSAGTKTTRFFNRDPNLGYPLWRLKTPEEHELETGIKSKEARKYIFNCLDDMAQVNMSTDLEGTDMLAEKADRREYIDLLKKMLTIDADKRITPLKTLNHQFVTMTHLLDFPHSNHVKSCFQNMEICKRRVHMYDTVSQIKSPFTTHVAPNTSTNLTMSFSNQLNTVHNQASVLASSSTAAAATLSLANSDVSLLNYQSALYPSSAAPVPGVAQQGVSLQPGTTQICTQTDPFQQTFIVCPPAFQTGLQATTKHSGFPVRMDNAVPIVPQAPAAQPLQIQSGVLTQGSCTPLMVATLHPQVATITPQYAVPFTLSCAAGRPALVEQTAAVLQAWPGGTQQILLPSTWQQLPGVALHNSVQPTAMIPEAMGSGQQLADWRNAHSHGNQYSTIMQQPSLLTNHVTLATAQPLNVGVAHVVRQQQSSSLPSKKNKQSAPVSSKSSLDVLPSQVYSLVGSSPLRTTSSYNSLVPVQDQHQPIIIPDTPSPPVSVITIRSDTDEEEDNKYKPSSSGLKPRSNVISYVTVNDSPDSDSSLSSPYSTDTLSALRGNSGSVLEGPGRVVADGTGTRTIIVPPLKTQLGDCTVATQASGLLSNKTKPVASVSGQSSGCCITPTGYRAQRGGTSAAQPLNLSQNQQSSAAPTSQERSSNPAPRRQQAFVAPLSQAPYTFQHGSPLHSTGHPHLAPAPAHLPSQAHLYTYAAPTSAAALGSTSSIAHLFSPQGSSRHAAAYTTHPSTLVHQVPVSVGPSLLTSASVAPAQYQHQFATQSYIGSSRGSTIYTGYPLSPTKISQYSYL
UniProt ID: Q86Z02
Variant: L -> V at position 1165-1165
Protein function: Serine/threonine-protein kinase involved in transcription regulation and TNF-mediated cellular apoptosis. Plays a role as a corepressor for homeodomain transcription factors. Phosphorylates DAXX and MYB. Phosphorylates DAXX in response to stress, and mediates its translocation from the nucleus to the cytoplasm. Inactivates MYB transcription factor activity by phosphorylation. Prevents MAP3K5-JNK activation in the absence of TNF. TNF triggers its translocation to the cytoplasm in response to stress stimuli, thus activating nuclear MAP3K5-JNK by derepression and promoting apoptosis. May be involved in anti-oxidative stress responses. Involved in the regulation of eye size, lens formation and retinal lamination during late embryogenesis. Promotes angiogenesis and to be involved in erythroid differentiation. May be involved in malignant squamous cell tumor formation. Phosphorylates PAGE4 at 'Thr-51' which is critical for the ability of PAGE4 to potentiate the transcriptional activator activity of JUN .
Reference sequence:
MASQLQVFSPPSVSSSAFCSAKKLKIEPSGWDVSGQSSNDKYYTHSKTLPATQGQANSSHQVANFNIPAYDQGLLLPAPAVEHIVVTAADSSGSAATSTFQSSQTLTHRSNVSLLEPYQKCGLKRKSEEVDSNGSVQIIEEHPPLMLQNRTVVGAAATTTTVTTKSSSSSGEGDYQLVQHEILCSMTNSYEVLEFLGRGTFGQVAKCWKRSTKEIVAIKILKNHPSYARQGQIEVSILSRLSSENADEYNFVRSYECFQHKNHTCLVFEMLEQNLYDFLKQNKFSPLPLKYIRPILQQVATALMKLKSLGLIHADLKPENIMLVDPVRQPYRVKVIDFGSASHVSKAVCSTYLQSRYYRAPEIILGLPFCEAIDMWSLGCVIAELFLGWPLYPGASEYDQIRYISQTQGLPAEYLLSAGTKTTRFFNRDPNLGYPLWRLKTPEEHELETGIKSKEARKYIFNCLDDMAQVNMSTDLEGTDMLAEKADRREYIDLLKKMLTIDADKRITPLKTLNHQFVTMTHLLDFPHSNHVKSCFQNMEICKRRVHMYDTVSQIKSPFTTHVAPNTSTNLTMSFSNQLNTVHNQASVLASSSTAAAATLSLANSDVSLLNYQSALYPSSAAPVPGVAQQGVSLQPGTTQICTQTDPFQQTFIVCPPAFQTGLQATTKHSGFPVRMDNAVPIVPQAPAAQPLQIQSGVLTQGSCTPLMVATLHPQVATITPQYAVPFTLSCAAGRPALVEQTAAVLQAWPGGTQQILLPSTWQQLPGVALHNSVQPTAMIPEAMGSGQQLADWRNAHSHGNQYSTIMQQPSLLTNHVTLATAQPLNVGVAHVVRQQQSSSLPSKKNKQSAPVSSKSSLDVLPSQVYSLVGSSPLRTTSSYNSLVPVQDQHQPIIIPDTPSPPVSVITIRSDTDEEEDNKYKPSSSGLKPRSNVISYVTVNDSPDSDSSLSSPYSTDTLSALRGNSGSVLEGPGRVVADGTGTRTIIVPPLKTQLGDCTVATQASGLLSNKTKPVASVSGQSSGCCITPTGYRAQRGGTSAAQPLNLSQNQQSSAAPTSQERSSNPAPRRQQAFVAPLSQAPYTFQHGSPLHSTGHPHLAPAPAHLPSQAHLYTYAAPTSAAALGSTSSIAHLFSPQGSSRHAAAYTTHPSTLVHQVPVSVGPSLLTSASVAPAQYQHQFATQSYIGSSRGSTIYTGYPLSPTKISQYSYL
UniProt ID: Q86Z20
Variant: V -> M at position 13-13
Variant annotation: in dbSNP:rs10471774
Protein function: May be involved in the regulation of cell migration.
Reference sequence:
MSKVARSSSESDVQLWETEEDDMTEGDLGYGLGRKPGGIYEIEFSHRSRKRSDGKNFSPPPFPRKGEERNEASFQYSKHKSQQDTFPQVSRISNYRRQSSTVDSNSELSNEELRQCLNETLEEVEMLKTELEASQRQLRGKEEALKILQSMAILGKATSHTQAVLQKTMEQNRSLEKEINALQWEIEFDHNRFKNIEESWIQKYDRLNCENAVLKENLKVKTEEIKMLKSDNAVLNQRYLEALAMLDIKQQKMAQENMCCDKSGFAEASGLELAVLGACLCHGPGGNPCSCARMAASTRKLLLQLKQELEILQKSKEEAYVMADAFRIAFEQQLMRKNDQALQLTQMDKMHKKATKWMNWKHLKEDGFPSPRSKKTFGQRLLGMLPSENSSKRMEDQDSPQEVLKMLIDLLNDKEEALAHQRKVSYMLARALEDKDTASNENKEKNPIKENFPFNNPWRKTSEFSVLGDPIHSSVCILNSVGCICSIQHSQIDPNYRTLKRSHSLPSSIIF
UniProt ID: Q86Z42
Variant: L -> P at position 150-150
Variant annotation: in strain: PB921
Protein function: Mating type proteins are sequence specific DNA-binding proteins that act as master switches in yeast differentiation by controlling gene expression in a cell type-specific fashion.
Reference sequence:
MSKKSRISITHLLNPIQEENLKEKLQEINNQLISLCSSLPKRQSLPGPSSDILRFLSRNNLDPQEIGLIKTTYRLSTLLSKLREHEIVFNVVTKDHLLKKGVPNHYAASYRGHRFTRENVQILETWYRNHIDNPYLDHNSQQYLAQKTNLSKIQIKNWVANRRRKQKSIYISPFRPTLMAQNSLDT
UniProt ID: Q875I9
Variant: V -> I at position 38-38
Variant annotation: in strain: NCPF7367
Protein function: Chitosanase catalyzing the endo-type cleavage of chitosan, the deacylated form of chitin. Chitosanase may be crucial in the degradation of the deacetylated portion of chitin in the fungal cell wall. Chitoolisaccharides produced by the hydrolysis of partially N-acetylated chitosan are known to have many biological activities, including antibacterial activity, immune-enhancing effects, and elicitor activity. The chitosans with higher degrees of deacetylation were shown to be the better substrates. Chitodimer, chitotrimer, and chitotetramer are the major products but monoacetyl chitodimer, monoacetyl chitotrimer, and monoacetyl chitotetramer are also produced.
Reference sequence:
MRLSEILTVALVTGATAYNLPNNLKQIYDKHKGKCSKVLAKGFTNGDASQGKSFSYCGDIPGAIFISSSKGYTNMDIDCDGANNSAGKCANDPSGQGETAFKSDVKKFGISDLDANIHPYVVFGNEDHSPKFKPQSHGMQPLSVMAVVCNGQLHYGIWGDTNGGVSTGEASISLADLCFPNEHLDGNHGHDPNDVLFIGFTSKDAVPGATAKWKAKNAKEFEDSIKSIGDKLVAGLKA
UniProt ID: Q875I9
Variant: W -> R at position 213-213
Variant annotation: in strain: NCPF7367
Protein function: Chitosanase catalyzing the endo-type cleavage of chitosan, the deacylated form of chitin. Chitosanase may be crucial in the degradation of the deacetylated portion of chitin in the fungal cell wall. Chitoolisaccharides produced by the hydrolysis of partially N-acetylated chitosan are known to have many biological activities, including antibacterial activity, immune-enhancing effects, and elicitor activity. The chitosans with higher degrees of deacetylation were shown to be the better substrates. Chitodimer, chitotrimer, and chitotetramer are the major products but monoacetyl chitodimer, monoacetyl chitotrimer, and monoacetyl chitotetramer are also produced.
Reference sequence:
MRLSEILTVALVTGATAYNLPNNLKQIYDKHKGKCSKVLAKGFTNGDASQGKSFSYCGDIPGAIFISSSKGYTNMDIDCDGANNSAGKCANDPSGQGETAFKSDVKKFGISDLDANIHPYVVFGNEDHSPKFKPQSHGMQPLSVMAVVCNGQLHYGIWGDTNGGVSTGEASISLADLCFPNEHLDGNHGHDPNDVLFIGFTSKDAVPGATAKWKAKNAKEFEDSIKSIGDKLVAGLKA
UniProt ID: Q8BGA2
Variant: G -> E at position 102-102
Variant annotation: causes malformations in the distal reproductive tract development in both female and male
Protein function: Plays a role in female and male fertility. Involved in distal reproductive tract development .
Reference sequence:
MCHVIVTCRSMLWTLLSIVVAFAELVAFMSADWLIGKAKTRSGSGDEQAGMNSEPHYLGILCIRTPAMQQVSRDTLCGTYAKSFGEIASGFWQATAIFLAVGIFILCVVALVSVFTMCVQSIMRKSIFNVCGLLQGIAGLFLILGLILYPAGWGCQKAIDCGRYASPYKPGDCSLGWAFYTATGGTVLTFICAVFSAQAEIATSSDKVQEEIEEGKNLVCLL
UniProt ID: Q8BH00
Variant: V -> G at position 145-145
Variant annotation: in strain: FVB/N
Protein function: Catalyzes the NAD-dependent oxidation of 2-aminomuconic semialdehyde of the kynurenine metabolic pathway in L-tryptophan degradation.
Reference sequence:
MAGKRELLMLENFIGGKFLPCNSYIDSYDPSTGEVYCKVPNSGKEEIEAAVEAAREAFPAWSSRSPQERSLVLNRLADVLEQSLEELAQAESKDQGKTLTLARTMDIPRSVLNFRFFASSNLHHVSECTQMSHLGCMHYTVRTPVGIAGLISPWNLPLYLLTWKIAPAIAAGNTVIAKPSEMTSVTAWMFCKLLDKAGVPPGVINIVFGTGPRVGEALVSHPEVPLISFTGSQPTAERITQLSAPHCKKLSLELGGKNPAIIFEDANLEECIPATVRSSFANQGEICLCTSRIFVQRSIYSEFLKRFVEATRKWKVGVPSDPSANMGALISKAHLEKVRSYVLKAQTEGARILCGEGVDQLSLPLRNQAGYFMLPTVITDIKDESRCMTEEIFGPVTCVVPFDSEEEVITRANSVRYGLAATVWSKDVGRIHRVAKKLQSGLVWTNCWLIRELNLPFGGMKSSGIGREGAKDSYDFFTEIKTITIKY
UniProt ID: Q8BH35
Variant: S -> W at position 14-14
Variant annotation: in strain: Mae/Stm
Protein function: Constituent of the membrane attack complex (MAC) that plays a key role in the innate and adaptive immune response by forming pores in the plasma membrane of target cells.
Reference sequence:
MKIGAQVWRALAKSCLLCATLGCLHFPGSRGGKPDFFETKAVNGSLVKSRPVRSVAEAPAPIDCELSTWSSWTACDPCQKKRYRHTYLLRPSQFYGELCDLSDKEVEDCVTNQPCRSQVRCEGFVCAQTGRCVNRRLLCNGDNDCGDQSDEANCRRIYKNCQREMEQYWAIDRLASGINLFTNTFEGPVLDHRYYAGGCSPHYILDTNFRKPYNVESYTPQTKCEYEFTLTEYESYSDFERLVIEKKTHMFNFTSGFKVDGVMDLGIKVESNEGKNYVTRTKRFAHTQSKFLHARSVLEVAHYKLKSRSLMLHYEFLQRVKSLPLEYSYGEYRDLLRDFGTHFITEAVLGGIYEYTLIMNKDAMEQGDYTLSHVTACAGGSFGIGGMVYKVYVKVGVSAKKCSDIMKEINERNKRSTMVEDLVVLVRGGTSEDITALAYKELPTPELMEAWGDAVKYNPAIIKIKAEPLYELVTATDFAYSSTVKQNLKKALEEFQSEVSSCRCAPCRGNGVPVLKGSRCECICPGGFQGTACEVTYRKDIPIDGKWSCWSDWSACSGGHKTRHRQCNNPAPHKGGSPCSGPASETLNC
UniProt ID: Q8BH35
Variant: A -> T at position 19-19
Variant annotation: in strain: MSM/Ms
Protein function: Constituent of the membrane attack complex (MAC) that plays a key role in the innate and adaptive immune response by forming pores in the plasma membrane of target cells.
Reference sequence:
MKIGAQVWRALAKSCLLCATLGCLHFPGSRGGKPDFFETKAVNGSLVKSRPVRSVAEAPAPIDCELSTWSSWTACDPCQKKRYRHTYLLRPSQFYGELCDLSDKEVEDCVTNQPCRSQVRCEGFVCAQTGRCVNRRLLCNGDNDCGDQSDEANCRRIYKNCQREMEQYWAIDRLASGINLFTNTFEGPVLDHRYYAGGCSPHYILDTNFRKPYNVESYTPQTKCEYEFTLTEYESYSDFERLVIEKKTHMFNFTSGFKVDGVMDLGIKVESNEGKNYVTRTKRFAHTQSKFLHARSVLEVAHYKLKSRSLMLHYEFLQRVKSLPLEYSYGEYRDLLRDFGTHFITEAVLGGIYEYTLIMNKDAMEQGDYTLSHVTACAGGSFGIGGMVYKVYVKVGVSAKKCSDIMKEINERNKRSTMVEDLVVLVRGGTSEDITALAYKELPTPELMEAWGDAVKYNPAIIKIKAEPLYELVTATDFAYSSTVKQNLKKALEEFQSEVSSCRCAPCRGNGVPVLKGSRCECICPGGFQGTACEVTYRKDIPIDGKWSCWSDWSACSGGHKTRHRQCNNPAPHKGGSPCSGPASETLNC
UniProt ID: Q8BH35
Variant: A -> E at position 60-60
Variant annotation: in strain: Mae/Stm
Protein function: Constituent of the membrane attack complex (MAC) that plays a key role in the innate and adaptive immune response by forming pores in the plasma membrane of target cells.
Reference sequence:
MKIGAQVWRALAKSCLLCATLGCLHFPGSRGGKPDFFETKAVNGSLVKSRPVRSVAEAPAPIDCELSTWSSWTACDPCQKKRYRHTYLLRPSQFYGELCDLSDKEVEDCVTNQPCRSQVRCEGFVCAQTGRCVNRRLLCNGDNDCGDQSDEANCRRIYKNCQREMEQYWAIDRLASGINLFTNTFEGPVLDHRYYAGGCSPHYILDTNFRKPYNVESYTPQTKCEYEFTLTEYESYSDFERLVIEKKTHMFNFTSGFKVDGVMDLGIKVESNEGKNYVTRTKRFAHTQSKFLHARSVLEVAHYKLKSRSLMLHYEFLQRVKSLPLEYSYGEYRDLLRDFGTHFITEAVLGGIYEYTLIMNKDAMEQGDYTLSHVTACAGGSFGIGGMVYKVYVKVGVSAKKCSDIMKEINERNKRSTMVEDLVVLVRGGTSEDITALAYKELPTPELMEAWGDAVKYNPAIIKIKAEPLYELVTATDFAYSSTVKQNLKKALEEFQSEVSSCRCAPCRGNGVPVLKGSRCECICPGGFQGTACEVTYRKDIPIDGKWSCWSDWSACSGGHKTRHRQCNNPAPHKGGSPCSGPASETLNC
UniProt ID: Q8BH35
Variant: Q -> R at position 118-118
Variant annotation: in strain: MSM/Ms
Protein function: Constituent of the membrane attack complex (MAC) that plays a key role in the innate and adaptive immune response by forming pores in the plasma membrane of target cells.
Reference sequence:
MKIGAQVWRALAKSCLLCATLGCLHFPGSRGGKPDFFETKAVNGSLVKSRPVRSVAEAPAPIDCELSTWSSWTACDPCQKKRYRHTYLLRPSQFYGELCDLSDKEVEDCVTNQPCRSQVRCEGFVCAQTGRCVNRRLLCNGDNDCGDQSDEANCRRIYKNCQREMEQYWAIDRLASGINLFTNTFEGPVLDHRYYAGGCSPHYILDTNFRKPYNVESYTPQTKCEYEFTLTEYESYSDFERLVIEKKTHMFNFTSGFKVDGVMDLGIKVESNEGKNYVTRTKRFAHTQSKFLHARSVLEVAHYKLKSRSLMLHYEFLQRVKSLPLEYSYGEYRDLLRDFGTHFITEAVLGGIYEYTLIMNKDAMEQGDYTLSHVTACAGGSFGIGGMVYKVYVKVGVSAKKCSDIMKEINERNKRSTMVEDLVVLVRGGTSEDITALAYKELPTPELMEAWGDAVKYNPAIIKIKAEPLYELVTATDFAYSSTVKQNLKKALEEFQSEVSSCRCAPCRGNGVPVLKGSRCECICPGGFQGTACEVTYRKDIPIDGKWSCWSDWSACSGGHKTRHRQCNNPAPHKGGSPCSGPASETLNC
UniProt ID: Q8BH35
Variant: N -> K at position 160-160
Variant annotation: in strain: Mae/Stm
Protein function: Constituent of the membrane attack complex (MAC) that plays a key role in the innate and adaptive immune response by forming pores in the plasma membrane of target cells.
Reference sequence:
MKIGAQVWRALAKSCLLCATLGCLHFPGSRGGKPDFFETKAVNGSLVKSRPVRSVAEAPAPIDCELSTWSSWTACDPCQKKRYRHTYLLRPSQFYGELCDLSDKEVEDCVTNQPCRSQVRCEGFVCAQTGRCVNRRLLCNGDNDCGDQSDEANCRRIYKNCQREMEQYWAIDRLASGINLFTNTFEGPVLDHRYYAGGCSPHYILDTNFRKPYNVESYTPQTKCEYEFTLTEYESYSDFERLVIEKKTHMFNFTSGFKVDGVMDLGIKVESNEGKNYVTRTKRFAHTQSKFLHARSVLEVAHYKLKSRSLMLHYEFLQRVKSLPLEYSYGEYRDLLRDFGTHFITEAVLGGIYEYTLIMNKDAMEQGDYTLSHVTACAGGSFGIGGMVYKVYVKVGVSAKKCSDIMKEINERNKRSTMVEDLVVLVRGGTSEDITALAYKELPTPELMEAWGDAVKYNPAIIKIKAEPLYELVTATDFAYSSTVKQNLKKALEEFQSEVSSCRCAPCRGNGVPVLKGSRCECICPGGFQGTACEVTYRKDIPIDGKWSCWSDWSACSGGHKTRHRQCNNPAPHKGGSPCSGPASETLNC
UniProt ID: Q8BH35
Variant: E -> K at position 449-449
Variant annotation: in strain: Mae/Stm and MSM/Ms
Protein function: Constituent of the membrane attack complex (MAC) that plays a key role in the innate and adaptive immune response by forming pores in the plasma membrane of target cells.
Reference sequence:
MKIGAQVWRALAKSCLLCATLGCLHFPGSRGGKPDFFETKAVNGSLVKSRPVRSVAEAPAPIDCELSTWSSWTACDPCQKKRYRHTYLLRPSQFYGELCDLSDKEVEDCVTNQPCRSQVRCEGFVCAQTGRCVNRRLLCNGDNDCGDQSDEANCRRIYKNCQREMEQYWAIDRLASGINLFTNTFEGPVLDHRYYAGGCSPHYILDTNFRKPYNVESYTPQTKCEYEFTLTEYESYSDFERLVIEKKTHMFNFTSGFKVDGVMDLGIKVESNEGKNYVTRTKRFAHTQSKFLHARSVLEVAHYKLKSRSLMLHYEFLQRVKSLPLEYSYGEYRDLLRDFGTHFITEAVLGGIYEYTLIMNKDAMEQGDYTLSHVTACAGGSFGIGGMVYKVYVKVGVSAKKCSDIMKEINERNKRSTMVEDLVVLVRGGTSEDITALAYKELPTPELMEAWGDAVKYNPAIIKIKAEPLYELVTATDFAYSSTVKQNLKKALEEFQSEVSSCRCAPCRGNGVPVLKGSRCECICPGGFQGTACEVTYRKDIPIDGKWSCWSDWSACSGGHKTRHRQCNNPAPHKGGSPCSGPASETLNC
UniProt ID: Q8BH35
Variant: S -> R at position 497-497
Variant annotation: in strain: Mae/Stm and MSM/Ms
Protein function: Constituent of the membrane attack complex (MAC) that plays a key role in the innate and adaptive immune response by forming pores in the plasma membrane of target cells.
Reference sequence:
MKIGAQVWRALAKSCLLCATLGCLHFPGSRGGKPDFFETKAVNGSLVKSRPVRSVAEAPAPIDCELSTWSSWTACDPCQKKRYRHTYLLRPSQFYGELCDLSDKEVEDCVTNQPCRSQVRCEGFVCAQTGRCVNRRLLCNGDNDCGDQSDEANCRRIYKNCQREMEQYWAIDRLASGINLFTNTFEGPVLDHRYYAGGCSPHYILDTNFRKPYNVESYTPQTKCEYEFTLTEYESYSDFERLVIEKKTHMFNFTSGFKVDGVMDLGIKVESNEGKNYVTRTKRFAHTQSKFLHARSVLEVAHYKLKSRSLMLHYEFLQRVKSLPLEYSYGEYRDLLRDFGTHFITEAVLGGIYEYTLIMNKDAMEQGDYTLSHVTACAGGSFGIGGMVYKVYVKVGVSAKKCSDIMKEINERNKRSTMVEDLVVLVRGGTSEDITALAYKELPTPELMEAWGDAVKYNPAIIKIKAEPLYELVTATDFAYSSTVKQNLKKALEEFQSEVSSCRCAPCRGNGVPVLKGSRCECICPGGFQGTACEVTYRKDIPIDGKWSCWSDWSACSGGHKTRHRQCNNPAPHKGGSPCSGPASETLNC
UniProt ID: Q8BH35
Variant: R -> H at position 503-503
Variant annotation: in strain: Mae/Stm and MSM/Ms
Protein function: Constituent of the membrane attack complex (MAC) that plays a key role in the innate and adaptive immune response by forming pores in the plasma membrane of target cells.
Reference sequence:
MKIGAQVWRALAKSCLLCATLGCLHFPGSRGGKPDFFETKAVNGSLVKSRPVRSVAEAPAPIDCELSTWSSWTACDPCQKKRYRHTYLLRPSQFYGELCDLSDKEVEDCVTNQPCRSQVRCEGFVCAQTGRCVNRRLLCNGDNDCGDQSDEANCRRIYKNCQREMEQYWAIDRLASGINLFTNTFEGPVLDHRYYAGGCSPHYILDTNFRKPYNVESYTPQTKCEYEFTLTEYESYSDFERLVIEKKTHMFNFTSGFKVDGVMDLGIKVESNEGKNYVTRTKRFAHTQSKFLHARSVLEVAHYKLKSRSLMLHYEFLQRVKSLPLEYSYGEYRDLLRDFGTHFITEAVLGGIYEYTLIMNKDAMEQGDYTLSHVTACAGGSFGIGGMVYKVYVKVGVSAKKCSDIMKEINERNKRSTMVEDLVVLVRGGTSEDITALAYKELPTPELMEAWGDAVKYNPAIIKIKAEPLYELVTATDFAYSSTVKQNLKKALEEFQSEVSSCRCAPCRGNGVPVLKGSRCECICPGGFQGTACEVTYRKDIPIDGKWSCWSDWSACSGGHKTRHRQCNNPAPHKGGSPCSGPASETLNC
UniProt ID: Q8BH35
Variant: H -> Q at position 564-564
Variant annotation: in strain: Mae/Stm
Protein function: Constituent of the membrane attack complex (MAC) that plays a key role in the innate and adaptive immune response by forming pores in the plasma membrane of target cells.
Reference sequence:
MKIGAQVWRALAKSCLLCATLGCLHFPGSRGGKPDFFETKAVNGSLVKSRPVRSVAEAPAPIDCELSTWSSWTACDPCQKKRYRHTYLLRPSQFYGELCDLSDKEVEDCVTNQPCRSQVRCEGFVCAQTGRCVNRRLLCNGDNDCGDQSDEANCRRIYKNCQREMEQYWAIDRLASGINLFTNTFEGPVLDHRYYAGGCSPHYILDTNFRKPYNVESYTPQTKCEYEFTLTEYESYSDFERLVIEKKTHMFNFTSGFKVDGVMDLGIKVESNEGKNYVTRTKRFAHTQSKFLHARSVLEVAHYKLKSRSLMLHYEFLQRVKSLPLEYSYGEYRDLLRDFGTHFITEAVLGGIYEYTLIMNKDAMEQGDYTLSHVTACAGGSFGIGGMVYKVYVKVGVSAKKCSDIMKEINERNKRSTMVEDLVVLVRGGTSEDITALAYKELPTPELMEAWGDAVKYNPAIIKIKAEPLYELVTATDFAYSSTVKQNLKKALEEFQSEVSSCRCAPCRGNGVPVLKGSRCECICPGGFQGTACEVTYRKDIPIDGKWSCWSDWSACSGGHKTRHRQCNNPAPHKGGSPCSGPASETLNC
UniProt ID: Q8BH35
Variant: N -> S at position 569-569
Variant annotation: in strain: MSM/Ms
Protein function: Constituent of the membrane attack complex (MAC) that plays a key role in the innate and adaptive immune response by forming pores in the plasma membrane of target cells.
Reference sequence:
MKIGAQVWRALAKSCLLCATLGCLHFPGSRGGKPDFFETKAVNGSLVKSRPVRSVAEAPAPIDCELSTWSSWTACDPCQKKRYRHTYLLRPSQFYGELCDLSDKEVEDCVTNQPCRSQVRCEGFVCAQTGRCVNRRLLCNGDNDCGDQSDEANCRRIYKNCQREMEQYWAIDRLASGINLFTNTFEGPVLDHRYYAGGCSPHYILDTNFRKPYNVESYTPQTKCEYEFTLTEYESYSDFERLVIEKKTHMFNFTSGFKVDGVMDLGIKVESNEGKNYVTRTKRFAHTQSKFLHARSVLEVAHYKLKSRSLMLHYEFLQRVKSLPLEYSYGEYRDLLRDFGTHFITEAVLGGIYEYTLIMNKDAMEQGDYTLSHVTACAGGSFGIGGMVYKVYVKVGVSAKKCSDIMKEINERNKRSTMVEDLVVLVRGGTSEDITALAYKELPTPELMEAWGDAVKYNPAIIKIKAEPLYELVTATDFAYSSTVKQNLKKALEEFQSEVSSCRCAPCRGNGVPVLKGSRCECICPGGFQGTACEVTYRKDIPIDGKWSCWSDWSACSGGHKTRHRQCNNPAPHKGGSPCSGPASETLNC