sujigwak/NVAR huggingface dataset:
UniProt ID: Q6E0U4
Variant: N -> S at position 139-139
Variant annotation: in dbSNP:rs7247001
Protein function: May act as a soluble regulator of keratinocyte differentiation.
Reference sequence:
MKFQGPLACLLLALCLGSGEAGPLQSGEESTGTNIGEALGHGLGDALSEGVGKAIGKEAGGAAGSKVSEALGQGTREAVGTGVRQVPGFGVADALGNRVGEAAHALGNTGHEIGRQAEDVIRHGADAVRGSWQGVPGHNGAWETSGGHGIFGSQGGLGGQGQGNPGGLGTPWVHGYPGNSAGSFGMNPQGAPWGQGGNGGPPNFGTNTQGAVAQPGYGSVRASNQNEGCTNPPPSGSGGGSSNSGGGSGSQSGSSGSGSNGDNNNGSSSGGSSSGSSSGGSSGGSSGGSSGNSGGSRGDSGSESSWGSSTGSSSGNHGGSGGGNGHKPGCEKPGNEARGSGESGIQNSETSPGMFNFDTFWKNFKSKLGFINWDAINKNQVPPPSTRALLYFSRLWEDFKQNTPFLNWKAIIEGADASSLQKRAGRDDQNYNYNQHAYPTAYGGKYSVKTPAKGGVSPSSSASRVQPGLLQWVKFW
UniProt ID: Q6E0U4
Variant: G -> S at position 280-280
Variant annotation: in dbSNP:rs11667007
Protein function: May act as a soluble regulator of keratinocyte differentiation.
Reference sequence:
MKFQGPLACLLLALCLGSGEAGPLQSGEESTGTNIGEALGHGLGDALSEGVGKAIGKEAGGAAGSKVSEALGQGTREAVGTGVRQVPGFGVADALGNRVGEAAHALGNTGHEIGRQAEDVIRHGADAVRGSWQGVPGHNGAWETSGGHGIFGSQGGLGGQGQGNPGGLGTPWVHGYPGNSAGSFGMNPQGAPWGQGGNGGPPNFGTNTQGAVAQPGYGSVRASNQNEGCTNPPPSGSGGGSSNSGGGSGSQSGSSGSGSNGDNNNGSSSGGSSSGSSSGGSSGGSSGGSSGNSGGSRGDSGSESSWGSSTGSSSGNHGGSGGGNGHKPGCEKPGNEARGSGESGIQNSETSPGMFNFDTFWKNFKSKLGFINWDAINKNQVPPPSTRALLYFSRLWEDFKQNTPFLNWKAIIEGADASSLQKRAGRDDQNYNYNQHAYPTAYGGKYSVKTPAKGGVSPSSSASRVQPGLLQWVKFW
UniProt ID: Q6E0U4
Variant: A -> S at position 415-415
Variant annotation: in dbSNP:rs2293696
Protein function: May act as a soluble regulator of keratinocyte differentiation.
Reference sequence:
MKFQGPLACLLLALCLGSGEAGPLQSGEESTGTNIGEALGHGLGDALSEGVGKAIGKEAGGAAGSKVSEALGQGTREAVGTGVRQVPGFGVADALGNRVGEAAHALGNTGHEIGRQAEDVIRHGADAVRGSWQGVPGHNGAWETSGGHGIFGSQGGLGGQGQGNPGGLGTPWVHGYPGNSAGSFGMNPQGAPWGQGGNGGPPNFGTNTQGAVAQPGYGSVRASNQNEGCTNPPPSGSGGGSSNSGGGSGSQSGSSGSGSNGDNNNGSSSGGSSSGSSSGGSSGGSSGGSSGNSGGSRGDSGSESSWGSSTGSSSGNHGGSGGGNGHKPGCEKPGNEARGSGESGIQNSETSPGMFNFDTFWKNFKSKLGFINWDAINKNQVPPPSTRALLYFSRLWEDFKQNTPFLNWKAIIEGADASSLQKRAGRDDQNYNYNQHAYPTAYGGKYSVKTPAKGGVSPSSSASRVQPGLLQWVKFW
UniProt ID: Q6E0U4
Variant: D -> A at position 427-427
Variant annotation: in dbSNP:rs909072
Protein function: May act as a soluble regulator of keratinocyte differentiation.
Reference sequence:
MKFQGPLACLLLALCLGSGEAGPLQSGEESTGTNIGEALGHGLGDALSEGVGKAIGKEAGGAAGSKVSEALGQGTREAVGTGVRQVPGFGVADALGNRVGEAAHALGNTGHEIGRQAEDVIRHGADAVRGSWQGVPGHNGAWETSGGHGIFGSQGGLGGQGQGNPGGLGTPWVHGYPGNSAGSFGMNPQGAPWGQGGNGGPPNFGTNTQGAVAQPGYGSVRASNQNEGCTNPPPSGSGGGSSNSGGGSGSQSGSSGSGSNGDNNNGSSSGGSSSGSSSGGSSGGSSGGSSGNSGGSRGDSGSESSWGSSTGSSSGNHGGSGGGNGHKPGCEKPGNEARGSGESGIQNSETSPGMFNFDTFWKNFKSKLGFINWDAINKNQVPPPSTRALLYFSRLWEDFKQNTPFLNWKAIIEGADASSLQKRAGRDDQNYNYNQHAYPTAYGGKYSVKTPAKGGVSPSSSASRVQPGLLQWVKFW
UniProt ID: Q6E804
Variant: T -> A at position 70-70
Protein function: Pattern recognition receptor (PRR) that detects bacterial peptidoglycan fragments and other danger signals and plays an important role in gastrointestinal immunity. Upon stimulation by muramyl dipeptide (MDP), a fragment of bacterial peptidoglycan, binds the proximal adapter receptor-interacting RIPK2, which recruits ubiquitin ligases as XIAP, BIRC2, BIRC3, INAVA and the LUBAC complex, triggering activation of MAP kinases and activation of NF-kappa-B signaling. This in turn leads to the transcriptional activation of hundreds of genes involved in immune response. Required for MDP-induced NLRP1-dependent CASP1 activation and IL1B release in macrophages. Component of an autophagy-mediated antibacterial pathway together with ATG16L1. Plays also a role in sensing single-stranded RNA (ssRNA) from viruses. Interacts with mitochondrial antiviral signaling/MAVS, leading to activation of interferon regulatory factor-3/IRF3 and expression of type I interferon. Besides recognizing pathogens, participates in surveillance of cellular homeostasis through sensing and binding to the cytosolic metabolite sphingosine-1-phosphate and then initating inflammation process.
Reference sequence:
MCAQDAFQTQRSQLVELLVSGSLEGFESILDRLLSREVLSWEDYEGLSLVGQPISHLARRLLDTIWNKGTWGCEQLTAAVREAQADSQPPELPSSWDPHSPHPARDLQSHRPAIVRRLYGHVEGVLDLTQQRGFISQYETDEIRRPIFTSSQRARRLLDLATVKANGLAAFLLQCIQELPVPLALPFEDAACKKYVSKLRTVISAQSRFLSTYDGAENLCLEEVYTENVLEIQMEVGMAGPSQQSPTTLGLEELFSTRDHFNKEADTVLVVGEAGSGKSTLLQQLHLLWASGRAFQEFLFVFPFSCRQLQCLVKPLSMRTLLFEHCCWPDLGPQDVFQVLLDHPERILLTFDGFDEFRFRFTDQERHCCPTAPTSVQSLLFNLLQGNLLKNARKVLTSRPSAVSASLRKHVRTELSLKGFSEEGIELYLRKRHREPGVADRLLCLLRATSALHGLCHLPVFSWMVSKCHEELLLQGRGSPKTTTDMYLLILRHFLLHASPLPLATHGLGPSLIQGRLPTLLHLGRLALWGLGTCCYVFSAKQLQAAHVDSEDLSLGFLVLAKRVVPGSTAPLEFLHITFQCFFAAFYLALSADTPPSSLRHLFQDHRPESSPLARVLPKLFLRGSRCREGSVAALLQGAEPHNLQITGAFLAGLLSQEHRSLLAECQASETALLRRWDCVRRCLTRSLREHFRSIPPALPGEAKSMHALPGFLWLIRSLYEMQEERLAREAVCRLNVGHLKLTFCGVGPAECAALAFVLRHLRRPVALQLDHNSVGDIGVEQLLPCLGVCKALYLRDNNISDRGICKLVEHALRCEQLQKLALFNNKLTDGCAHSMARLLACKQNFLALRLGNNHITAAGAEVLAQGLRTNNSLQFLGFWGNQVGDEGAQALAAALGDHQSLRWLSLVGNNIGSVGAQALALMLEKNMALEELCLEENHVQDEGVCFLAKGLARNSSLKVLKLSNNHISSLGAEALLRALEKNDTILEVWLRGNTFSPEEIEKLSHQDTRLLL
UniProt ID: Q6E804
Variant: V -> M at position 196-196
Protein function: Pattern recognition receptor (PRR) that detects bacterial peptidoglycan fragments and other danger signals and plays an important role in gastrointestinal immunity. Upon stimulation by muramyl dipeptide (MDP), a fragment of bacterial peptidoglycan, binds the proximal adapter receptor-interacting RIPK2, which recruits ubiquitin ligases as XIAP, BIRC2, BIRC3, INAVA and the LUBAC complex, triggering activation of MAP kinases and activation of NF-kappa-B signaling. This in turn leads to the transcriptional activation of hundreds of genes involved in immune response. Required for MDP-induced NLRP1-dependent CASP1 activation and IL1B release in macrophages. Component of an autophagy-mediated antibacterial pathway together with ATG16L1. Plays also a role in sensing single-stranded RNA (ssRNA) from viruses. Interacts with mitochondrial antiviral signaling/MAVS, leading to activation of interferon regulatory factor-3/IRF3 and expression of type I interferon. Besides recognizing pathogens, participates in surveillance of cellular homeostasis through sensing and binding to the cytosolic metabolite sphingosine-1-phosphate and then initating inflammation process.
Reference sequence:
MCAQDAFQTQRSQLVELLVSGSLEGFESILDRLLSREVLSWEDYEGLSLVGQPISHLARRLLDTIWNKGTWGCEQLTAAVREAQADSQPPELPSSWDPHSPHPARDLQSHRPAIVRRLYGHVEGVLDLTQQRGFISQYETDEIRRPIFTSSQRARRLLDLATVKANGLAAFLLQCIQELPVPLALPFEDAACKKYVSKLRTVISAQSRFLSTYDGAENLCLEEVYTENVLEIQMEVGMAGPSQQSPTTLGLEELFSTRDHFNKEADTVLVVGEAGSGKSTLLQQLHLLWASGRAFQEFLFVFPFSCRQLQCLVKPLSMRTLLFEHCCWPDLGPQDVFQVLLDHPERILLTFDGFDEFRFRFTDQERHCCPTAPTSVQSLLFNLLQGNLLKNARKVLTSRPSAVSASLRKHVRTELSLKGFSEEGIELYLRKRHREPGVADRLLCLLRATSALHGLCHLPVFSWMVSKCHEELLLQGRGSPKTTTDMYLLILRHFLLHASPLPLATHGLGPSLIQGRLPTLLHLGRLALWGLGTCCYVFSAKQLQAAHVDSEDLSLGFLVLAKRVVPGSTAPLEFLHITFQCFFAAFYLALSADTPPSSLRHLFQDHRPESSPLARVLPKLFLRGSRCREGSVAALLQGAEPHNLQITGAFLAGLLSQEHRSLLAECQASETALLRRWDCVRRCLTRSLREHFRSIPPALPGEAKSMHALPGFLWLIRSLYEMQEERLAREAVCRLNVGHLKLTFCGVGPAECAALAFVLRHLRRPVALQLDHNSVGDIGVEQLLPCLGVCKALYLRDNNISDRGICKLVEHALRCEQLQKLALFNNKLTDGCAHSMARLLACKQNFLALRLGNNHITAAGAEVLAQGLRTNNSLQFLGFWGNQVGDEGAQALAAALGDHQSLRWLSLVGNNIGSVGAQALALMLEKNMALEELCLEENHVQDEGVCFLAKGLARNSSLKVLKLSNNHISSLGAEALLRALEKNDTILEVWLRGNTFSPEEIEKLSHQDTRLLL
UniProt ID: Q6E804
Variant: T -> N at position 505-505
Protein function: Pattern recognition receptor (PRR) that detects bacterial peptidoglycan fragments and other danger signals and plays an important role in gastrointestinal immunity. Upon stimulation by muramyl dipeptide (MDP), a fragment of bacterial peptidoglycan, binds the proximal adapter receptor-interacting RIPK2, which recruits ubiquitin ligases as XIAP, BIRC2, BIRC3, INAVA and the LUBAC complex, triggering activation of MAP kinases and activation of NF-kappa-B signaling. This in turn leads to the transcriptional activation of hundreds of genes involved in immune response. Required for MDP-induced NLRP1-dependent CASP1 activation and IL1B release in macrophages. Component of an autophagy-mediated antibacterial pathway together with ATG16L1. Plays also a role in sensing single-stranded RNA (ssRNA) from viruses. Interacts with mitochondrial antiviral signaling/MAVS, leading to activation of interferon regulatory factor-3/IRF3 and expression of type I interferon. Besides recognizing pathogens, participates in surveillance of cellular homeostasis through sensing and binding to the cytosolic metabolite sphingosine-1-phosphate and then initating inflammation process.
Reference sequence:
MCAQDAFQTQRSQLVELLVSGSLEGFESILDRLLSREVLSWEDYEGLSLVGQPISHLARRLLDTIWNKGTWGCEQLTAAVREAQADSQPPELPSSWDPHSPHPARDLQSHRPAIVRRLYGHVEGVLDLTQQRGFISQYETDEIRRPIFTSSQRARRLLDLATVKANGLAAFLLQCIQELPVPLALPFEDAACKKYVSKLRTVISAQSRFLSTYDGAENLCLEEVYTENVLEIQMEVGMAGPSQQSPTTLGLEELFSTRDHFNKEADTVLVVGEAGSGKSTLLQQLHLLWASGRAFQEFLFVFPFSCRQLQCLVKPLSMRTLLFEHCCWPDLGPQDVFQVLLDHPERILLTFDGFDEFRFRFTDQERHCCPTAPTSVQSLLFNLLQGNLLKNARKVLTSRPSAVSASLRKHVRTELSLKGFSEEGIELYLRKRHREPGVADRLLCLLRATSALHGLCHLPVFSWMVSKCHEELLLQGRGSPKTTTDMYLLILRHFLLHASPLPLATHGLGPSLIQGRLPTLLHLGRLALWGLGTCCYVFSAKQLQAAHVDSEDLSLGFLVLAKRVVPGSTAPLEFLHITFQCFFAAFYLALSADTPPSSLRHLFQDHRPESSPLARVLPKLFLRGSRCREGSVAALLQGAEPHNLQITGAFLAGLLSQEHRSLLAECQASETALLRRWDCVRRCLTRSLREHFRSIPPALPGEAKSMHALPGFLWLIRSLYEMQEERLAREAVCRLNVGHLKLTFCGVGPAECAALAFVLRHLRRPVALQLDHNSVGDIGVEQLLPCLGVCKALYLRDNNISDRGICKLVEHALRCEQLQKLALFNNKLTDGCAHSMARLLACKQNFLALRLGNNHITAAGAEVLAQGLRTNNSLQFLGFWGNQVGDEGAQALAAALGDHQSLRWLSLVGNNIGSVGAQALALMLEKNMALEELCLEENHVQDEGVCFLAKGLARNSSLKVLKLSNNHISSLGAEALLRALEKNDTILEVWLRGNTFSPEEIEKLSHQDTRLLL
UniProt ID: Q6E804
Variant: R -> Q at position 681-681
Protein function: Pattern recognition receptor (PRR) that detects bacterial peptidoglycan fragments and other danger signals and plays an important role in gastrointestinal immunity. Upon stimulation by muramyl dipeptide (MDP), a fragment of bacterial peptidoglycan, binds the proximal adapter receptor-interacting RIPK2, which recruits ubiquitin ligases as XIAP, BIRC2, BIRC3, INAVA and the LUBAC complex, triggering activation of MAP kinases and activation of NF-kappa-B signaling. This in turn leads to the transcriptional activation of hundreds of genes involved in immune response. Required for MDP-induced NLRP1-dependent CASP1 activation and IL1B release in macrophages. Component of an autophagy-mediated antibacterial pathway together with ATG16L1. Plays also a role in sensing single-stranded RNA (ssRNA) from viruses. Interacts with mitochondrial antiviral signaling/MAVS, leading to activation of interferon regulatory factor-3/IRF3 and expression of type I interferon. Besides recognizing pathogens, participates in surveillance of cellular homeostasis through sensing and binding to the cytosolic metabolite sphingosine-1-phosphate and then initating inflammation process.
Reference sequence:
MCAQDAFQTQRSQLVELLVSGSLEGFESILDRLLSREVLSWEDYEGLSLVGQPISHLARRLLDTIWNKGTWGCEQLTAAVREAQADSQPPELPSSWDPHSPHPARDLQSHRPAIVRRLYGHVEGVLDLTQQRGFISQYETDEIRRPIFTSSQRARRLLDLATVKANGLAAFLLQCIQELPVPLALPFEDAACKKYVSKLRTVISAQSRFLSTYDGAENLCLEEVYTENVLEIQMEVGMAGPSQQSPTTLGLEELFSTRDHFNKEADTVLVVGEAGSGKSTLLQQLHLLWASGRAFQEFLFVFPFSCRQLQCLVKPLSMRTLLFEHCCWPDLGPQDVFQVLLDHPERILLTFDGFDEFRFRFTDQERHCCPTAPTSVQSLLFNLLQGNLLKNARKVLTSRPSAVSASLRKHVRTELSLKGFSEEGIELYLRKRHREPGVADRLLCLLRATSALHGLCHLPVFSWMVSKCHEELLLQGRGSPKTTTDMYLLILRHFLLHASPLPLATHGLGPSLIQGRLPTLLHLGRLALWGLGTCCYVFSAKQLQAAHVDSEDLSLGFLVLAKRVVPGSTAPLEFLHITFQCFFAAFYLALSADTPPSSLRHLFQDHRPESSPLARVLPKLFLRGSRCREGSVAALLQGAEPHNLQITGAFLAGLLSQEHRSLLAECQASETALLRRWDCVRRCLTRSLREHFRSIPPALPGEAKSMHALPGFLWLIRSLYEMQEERLAREAVCRLNVGHLKLTFCGVGPAECAALAFVLRHLRRPVALQLDHNSVGDIGVEQLLPCLGVCKALYLRDNNISDRGICKLVEHALRCEQLQKLALFNNKLTDGCAHSMARLLACKQNFLALRLGNNHITAAGAEVLAQGLRTNNSLQFLGFWGNQVGDEGAQALAAALGDHQSLRWLSLVGNNIGSVGAQALALMLEKNMALEELCLEENHVQDEGVCFLAKGLARNSSLKVLKLSNNHISSLGAEALLRALEKNDTILEVWLRGNTFSPEEIEKLSHQDTRLLL
UniProt ID: Q6E804
Variant: R -> H at position 689-689
Protein function: Pattern recognition receptor (PRR) that detects bacterial peptidoglycan fragments and other danger signals and plays an important role in gastrointestinal immunity. Upon stimulation by muramyl dipeptide (MDP), a fragment of bacterial peptidoglycan, binds the proximal adapter receptor-interacting RIPK2, which recruits ubiquitin ligases as XIAP, BIRC2, BIRC3, INAVA and the LUBAC complex, triggering activation of MAP kinases and activation of NF-kappa-B signaling. This in turn leads to the transcriptional activation of hundreds of genes involved in immune response. Required for MDP-induced NLRP1-dependent CASP1 activation and IL1B release in macrophages. Component of an autophagy-mediated antibacterial pathway together with ATG16L1. Plays also a role in sensing single-stranded RNA (ssRNA) from viruses. Interacts with mitochondrial antiviral signaling/MAVS, leading to activation of interferon regulatory factor-3/IRF3 and expression of type I interferon. Besides recognizing pathogens, participates in surveillance of cellular homeostasis through sensing and binding to the cytosolic metabolite sphingosine-1-phosphate and then initating inflammation process.
Reference sequence:
MCAQDAFQTQRSQLVELLVSGSLEGFESILDRLLSREVLSWEDYEGLSLVGQPISHLARRLLDTIWNKGTWGCEQLTAAVREAQADSQPPELPSSWDPHSPHPARDLQSHRPAIVRRLYGHVEGVLDLTQQRGFISQYETDEIRRPIFTSSQRARRLLDLATVKANGLAAFLLQCIQELPVPLALPFEDAACKKYVSKLRTVISAQSRFLSTYDGAENLCLEEVYTENVLEIQMEVGMAGPSQQSPTTLGLEELFSTRDHFNKEADTVLVVGEAGSGKSTLLQQLHLLWASGRAFQEFLFVFPFSCRQLQCLVKPLSMRTLLFEHCCWPDLGPQDVFQVLLDHPERILLTFDGFDEFRFRFTDQERHCCPTAPTSVQSLLFNLLQGNLLKNARKVLTSRPSAVSASLRKHVRTELSLKGFSEEGIELYLRKRHREPGVADRLLCLLRATSALHGLCHLPVFSWMVSKCHEELLLQGRGSPKTTTDMYLLILRHFLLHASPLPLATHGLGPSLIQGRLPTLLHLGRLALWGLGTCCYVFSAKQLQAAHVDSEDLSLGFLVLAKRVVPGSTAPLEFLHITFQCFFAAFYLALSADTPPSSLRHLFQDHRPESSPLARVLPKLFLRGSRCREGSVAALLQGAEPHNLQITGAFLAGLLSQEHRSLLAECQASETALLRRWDCVRRCLTRSLREHFRSIPPALPGEAKSMHALPGFLWLIRSLYEMQEERLAREAVCRLNVGHLKLTFCGVGPAECAALAFVLRHLRRPVALQLDHNSVGDIGVEQLLPCLGVCKALYLRDNNISDRGICKLVEHALRCEQLQKLALFNNKLTDGCAHSMARLLACKQNFLALRLGNNHITAAGAEVLAQGLRTNNSLQFLGFWGNQVGDEGAQALAAALGDHQSLRWLSLVGNNIGSVGAQALALMLEKNMALEELCLEENHVQDEGVCFLAKGLARNSSLKVLKLSNNHISSLGAEALLRALEKNDTILEVWLRGNTFSPEEIEKLSHQDTRLLL
UniProt ID: Q6E804
Variant: C -> R at position 733-733
Protein function: Pattern recognition receptor (PRR) that detects bacterial peptidoglycan fragments and other danger signals and plays an important role in gastrointestinal immunity. Upon stimulation by muramyl dipeptide (MDP), a fragment of bacterial peptidoglycan, binds the proximal adapter receptor-interacting RIPK2, which recruits ubiquitin ligases as XIAP, BIRC2, BIRC3, INAVA and the LUBAC complex, triggering activation of MAP kinases and activation of NF-kappa-B signaling. This in turn leads to the transcriptional activation of hundreds of genes involved in immune response. Required for MDP-induced NLRP1-dependent CASP1 activation and IL1B release in macrophages. Component of an autophagy-mediated antibacterial pathway together with ATG16L1. Plays also a role in sensing single-stranded RNA (ssRNA) from viruses. Interacts with mitochondrial antiviral signaling/MAVS, leading to activation of interferon regulatory factor-3/IRF3 and expression of type I interferon. Besides recognizing pathogens, participates in surveillance of cellular homeostasis through sensing and binding to the cytosolic metabolite sphingosine-1-phosphate and then initating inflammation process.
Reference sequence:
MCAQDAFQTQRSQLVELLVSGSLEGFESILDRLLSREVLSWEDYEGLSLVGQPISHLARRLLDTIWNKGTWGCEQLTAAVREAQADSQPPELPSSWDPHSPHPARDLQSHRPAIVRRLYGHVEGVLDLTQQRGFISQYETDEIRRPIFTSSQRARRLLDLATVKANGLAAFLLQCIQELPVPLALPFEDAACKKYVSKLRTVISAQSRFLSTYDGAENLCLEEVYTENVLEIQMEVGMAGPSQQSPTTLGLEELFSTRDHFNKEADTVLVVGEAGSGKSTLLQQLHLLWASGRAFQEFLFVFPFSCRQLQCLVKPLSMRTLLFEHCCWPDLGPQDVFQVLLDHPERILLTFDGFDEFRFRFTDQERHCCPTAPTSVQSLLFNLLQGNLLKNARKVLTSRPSAVSASLRKHVRTELSLKGFSEEGIELYLRKRHREPGVADRLLCLLRATSALHGLCHLPVFSWMVSKCHEELLLQGRGSPKTTTDMYLLILRHFLLHASPLPLATHGLGPSLIQGRLPTLLHLGRLALWGLGTCCYVFSAKQLQAAHVDSEDLSLGFLVLAKRVVPGSTAPLEFLHITFQCFFAAFYLALSADTPPSSLRHLFQDHRPESSPLARVLPKLFLRGSRCREGSVAALLQGAEPHNLQITGAFLAGLLSQEHRSLLAECQASETALLRRWDCVRRCLTRSLREHFRSIPPALPGEAKSMHALPGFLWLIRSLYEMQEERLAREAVCRLNVGHLKLTFCGVGPAECAALAFVLRHLRRPVALQLDHNSVGDIGVEQLLPCLGVCKALYLRDNNISDRGICKLVEHALRCEQLQKLALFNNKLTDGCAHSMARLLACKQNFLALRLGNNHITAAGAEVLAQGLRTNNSLQFLGFWGNQVGDEGAQALAAALGDHQSLRWLSLVGNNIGSVGAQALALMLEKNMALEELCLEENHVQDEGVCFLAKGLARNSSLKVLKLSNNHISSLGAEALLRALEKNDTILEVWLRGNTFSPEEIEKLSHQDTRLLL
UniProt ID: Q6E804
Variant: Q -> L at position 1007-1007
Protein function: Pattern recognition receptor (PRR) that detects bacterial peptidoglycan fragments and other danger signals and plays an important role in gastrointestinal immunity. Upon stimulation by muramyl dipeptide (MDP), a fragment of bacterial peptidoglycan, binds the proximal adapter receptor-interacting RIPK2, which recruits ubiquitin ligases as XIAP, BIRC2, BIRC3, INAVA and the LUBAC complex, triggering activation of MAP kinases and activation of NF-kappa-B signaling. This in turn leads to the transcriptional activation of hundreds of genes involved in immune response. Required for MDP-induced NLRP1-dependent CASP1 activation and IL1B release in macrophages. Component of an autophagy-mediated antibacterial pathway together with ATG16L1. Plays also a role in sensing single-stranded RNA (ssRNA) from viruses. Interacts with mitochondrial antiviral signaling/MAVS, leading to activation of interferon regulatory factor-3/IRF3 and expression of type I interferon. Besides recognizing pathogens, participates in surveillance of cellular homeostasis through sensing and binding to the cytosolic metabolite sphingosine-1-phosphate and then initating inflammation process.
Reference sequence:
MCAQDAFQTQRSQLVELLVSGSLEGFESILDRLLSREVLSWEDYEGLSLVGQPISHLARRLLDTIWNKGTWGCEQLTAAVREAQADSQPPELPSSWDPHSPHPARDLQSHRPAIVRRLYGHVEGVLDLTQQRGFISQYETDEIRRPIFTSSQRARRLLDLATVKANGLAAFLLQCIQELPVPLALPFEDAACKKYVSKLRTVISAQSRFLSTYDGAENLCLEEVYTENVLEIQMEVGMAGPSQQSPTTLGLEELFSTRDHFNKEADTVLVVGEAGSGKSTLLQQLHLLWASGRAFQEFLFVFPFSCRQLQCLVKPLSMRTLLFEHCCWPDLGPQDVFQVLLDHPERILLTFDGFDEFRFRFTDQERHCCPTAPTSVQSLLFNLLQGNLLKNARKVLTSRPSAVSASLRKHVRTELSLKGFSEEGIELYLRKRHREPGVADRLLCLLRATSALHGLCHLPVFSWMVSKCHEELLLQGRGSPKTTTDMYLLILRHFLLHASPLPLATHGLGPSLIQGRLPTLLHLGRLALWGLGTCCYVFSAKQLQAAHVDSEDLSLGFLVLAKRVVPGSTAPLEFLHITFQCFFAAFYLALSADTPPSSLRHLFQDHRPESSPLARVLPKLFLRGSRCREGSVAALLQGAEPHNLQITGAFLAGLLSQEHRSLLAECQASETALLRRWDCVRRCLTRSLREHFRSIPPALPGEAKSMHALPGFLWLIRSLYEMQEERLAREAVCRLNVGHLKLTFCGVGPAECAALAFVLRHLRRPVALQLDHNSVGDIGVEQLLPCLGVCKALYLRDNNISDRGICKLVEHALRCEQLQKLALFNNKLTDGCAHSMARLLACKQNFLALRLGNNHITAAGAEVLAQGLRTNNSLQFLGFWGNQVGDEGAQALAAALGDHQSLRWLSLVGNNIGSVGAQALALMLEKNMALEELCLEENHVQDEGVCFLAKGLARNSSLKVLKLSNNHISSLGAEALLRALEKNDTILEVWLRGNTFSPEEIEKLSHQDTRLLL
UniProt ID: Q6ECI4
Variant: V -> L at position 23-23
Variant annotation: in dbSNP:rs10421285
Protein function: May be involved in transcriptional regulation.
Reference sequence:
MKSQEEVEVAGIKLCKAMSLGSVTFTDVAIDFSQDEWEWLNLAQRSLYKKVMLENYRNLVSVGLCISKPDVISLLEQEKDPWVIKGGMNRGLCPDLECVWVTKSLSLNQDIYEEKLPPAIIMERLKSYDLECSTLGKNWKCEDLFERELVNQKTHFRQETITHIDTLIEKRDHSNKSGTVFHLNTLSYIKQIFPMEERIFNFHTDKKSLKTHSVVKKHKQDRGEKKLLKCNDCEKIFSKISTLTLHQRIHTGEKPYECIECGKAFSQSAHLAQHQRIHTGEKPFECTECGKAFSQNAHLVQHQRVHTGEKPYQCKQCNKAFSQLAHLAQHQRVHTGEKPYECIECGKAFSDCSSLAHHRRIHTGKRPYECIDCGKAFRQNASLIRHRRYYHTGEKPFDCIDCGKAFTDHIGLIQHKRTHTGERPYKCNVCGKAFSHGSSLTVHQRIHTGEKPYECNICEKAFSHRGSLTLHQRVHTGEKPYECKECGKAFRQSTHLAHHQRIHTGEKPYECKECSKTFSQNAHLAQHQKIHTGEKPYECKECGKAFSQIAHLVQHQRVHTGEKPYECIECGKAFSDGSYLVQHQRLHSGKRPYECLECGKAFRQRASLICHQRCHTGEKPYECNVCGKAFSHRKSLTLHQRIHTGEKPYECKECSKAFSQVAHLTLHKRIHTGERPYECKECGKAFRQSVHLAHHQRIHTGESSVILSSALPYHQVL
UniProt ID: Q6ECI4
Variant: K -> R at position 254-254
Variant annotation: in dbSNP:rs3752179
Protein function: May be involved in transcriptional regulation.
Reference sequence:
MKSQEEVEVAGIKLCKAMSLGSVTFTDVAIDFSQDEWEWLNLAQRSLYKKVMLENYRNLVSVGLCISKPDVISLLEQEKDPWVIKGGMNRGLCPDLECVWVTKSLSLNQDIYEEKLPPAIIMERLKSYDLECSTLGKNWKCEDLFERELVNQKTHFRQETITHIDTLIEKRDHSNKSGTVFHLNTLSYIKQIFPMEERIFNFHTDKKSLKTHSVVKKHKQDRGEKKLLKCNDCEKIFSKISTLTLHQRIHTGEKPYECIECGKAFSQSAHLAQHQRIHTGEKPFECTECGKAFSQNAHLVQHQRVHTGEKPYQCKQCNKAFSQLAHLAQHQRVHTGEKPYECIECGKAFSDCSSLAHHRRIHTGKRPYECIDCGKAFRQNASLIRHRRYYHTGEKPFDCIDCGKAFTDHIGLIQHKRTHTGERPYKCNVCGKAFSHGSSLTVHQRIHTGEKPYECNICEKAFSHRGSLTLHQRVHTGEKPYECKECGKAFRQSTHLAHHQRIHTGEKPYECKECSKTFSQNAHLAQHQKIHTGEKPYECKECGKAFSQIAHLVQHQRVHTGEKPYECIECGKAFSDGSYLVQHQRLHSGKRPYECLECGKAFRQRASLICHQRCHTGEKPYECNVCGKAFSHRKSLTLHQRIHTGEKPYECKECSKAFSQVAHLTLHKRIHTGERPYECKECGKAFRQSVHLAHHQRIHTGESSVILSSALPYHQVL
UniProt ID: Q6ECI4
Variant: T -> I at position 418-418
Variant annotation: in dbSNP:rs4801177
Protein function: May be involved in transcriptional regulation.
Reference sequence:
MKSQEEVEVAGIKLCKAMSLGSVTFTDVAIDFSQDEWEWLNLAQRSLYKKVMLENYRNLVSVGLCISKPDVISLLEQEKDPWVIKGGMNRGLCPDLECVWVTKSLSLNQDIYEEKLPPAIIMERLKSYDLECSTLGKNWKCEDLFERELVNQKTHFRQETITHIDTLIEKRDHSNKSGTVFHLNTLSYIKQIFPMEERIFNFHTDKKSLKTHSVVKKHKQDRGEKKLLKCNDCEKIFSKISTLTLHQRIHTGEKPYECIECGKAFSQSAHLAQHQRIHTGEKPFECTECGKAFSQNAHLVQHQRVHTGEKPYQCKQCNKAFSQLAHLAQHQRVHTGEKPYECIECGKAFSDCSSLAHHRRIHTGKRPYECIDCGKAFRQNASLIRHRRYYHTGEKPFDCIDCGKAFTDHIGLIQHKRTHTGERPYKCNVCGKAFSHGSSLTVHQRIHTGEKPYECNICEKAFSHRGSLTLHQRVHTGEKPYECKECGKAFRQSTHLAHHQRIHTGEKPYECKECSKTFSQNAHLAQHQKIHTGEKPYECKECGKAFSQIAHLVQHQRVHTGEKPYECIECGKAFSDGSYLVQHQRLHSGKRPYECLECGKAFRQRASLICHQRCHTGEKPYECNVCGKAFSHRKSLTLHQRIHTGEKPYECKECSKAFSQVAHLTLHKRIHTGERPYECKECGKAFRQSVHLAHHQRIHTGESSVILSSALPYHQVL
UniProt ID: Q6ECI4
Variant: I -> T at position 642-642
Variant annotation: in dbSNP:rs35077804
Protein function: May be involved in transcriptional regulation.
Reference sequence:
MKSQEEVEVAGIKLCKAMSLGSVTFTDVAIDFSQDEWEWLNLAQRSLYKKVMLENYRNLVSVGLCISKPDVISLLEQEKDPWVIKGGMNRGLCPDLECVWVTKSLSLNQDIYEEKLPPAIIMERLKSYDLECSTLGKNWKCEDLFERELVNQKTHFRQETITHIDTLIEKRDHSNKSGTVFHLNTLSYIKQIFPMEERIFNFHTDKKSLKTHSVVKKHKQDRGEKKLLKCNDCEKIFSKISTLTLHQRIHTGEKPYECIECGKAFSQSAHLAQHQRIHTGEKPFECTECGKAFSQNAHLVQHQRVHTGEKPYQCKQCNKAFSQLAHLAQHQRVHTGEKPYECIECGKAFSDCSSLAHHRRIHTGKRPYECIDCGKAFRQNASLIRHRRYYHTGEKPFDCIDCGKAFTDHIGLIQHKRTHTGERPYKCNVCGKAFSHGSSLTVHQRIHTGEKPYECNICEKAFSHRGSLTLHQRVHTGEKPYECKECGKAFRQSTHLAHHQRIHTGEKPYECKECSKTFSQNAHLAQHQKIHTGEKPYECKECGKAFSQIAHLVQHQRVHTGEKPYECIECGKAFSDGSYLVQHQRLHSGKRPYECLECGKAFRQRASLICHQRCHTGEKPYECNVCGKAFSHRKSLTLHQRIHTGEKPYECKECSKAFSQVAHLTLHKRIHTGERPYECKECGKAFRQSVHLAHHQRIHTGESSVILSSALPYHQVL
UniProt ID: Q6EGI2
Variant: V -> I at position 3-3
Variant annotation: in strain: Isolate LSUMZM-3076
Protein function: Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and the ATP synthase. Cytochrome c oxidase is the component of the respiratory chain that catalyzes the reduction of oxygen to water. Electrons originating from reduced cytochrome c in the intermembrane space (IMS) are transferred via the dinuclear copper A center (CU(A)) of subunit 2 and heme A of subunit 1 to the active site in subunit 1, a binuclear center (BNC) formed by heme A3 and copper B (CU(B)). The BNC reduces molecular oxygen to 2 water molecules using 4 electrons from cytochrome c in the IMS and 4 protons from the mitochondrial matrix.
Reference sequence:
MFVNRWLFSTNHKDIGTLYMIFGAWAGMVGTGLSILIRAELGQPGSLLGDDQIYNVVVTAHAFVMIFFMVMPIMIGGFGNWLVPLMIGAPDMAFPRMNNMSFWLLPPSFLLLLASSMVEAGAGTGWTVYPPLAGNLAHAGASVDLTIFSLHLAGVSSILGAINFITTIINMKPPAITQYQTPLFVWSVMITAVLLLLSLPVLAAGITMLLTDRNLNTTFFDPAGGGDPILYQHLFWFFGHPEVYILILPGFGMISHIVTYYSGKKEPFGYMGMVWAMMSIGFLGFIVWAHHMFTVGMDVDTRAYFTSATMIIAIPTGVKVFSWLATLHGGNIKWSPAMLWALGFIFLFTIGGLTGIVLSNSSLDIVLHDTYYVVAHFHYVLSMGAVFAIMGGFVHWFPLFTGYTLNETWAKIHFTIMFVGVNMTFFPQHFLGLAGMPRRYSDYPDAYTTWNTISSMGSFISLTAVILMIFMIWEALASKRLVKSVPLTSTNLEWIYGCPPPFHTFEEPVFIKST