sujigwak/NVAR huggingface dataset:
UniProt ID: P34969
Variant: T -> K at position 92-92
Variant annotation: in dbSNP:rs1379762209
Protein function: This is one of the several different receptors for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. The activity of this receptor is mediated by G proteins that stimulate adenylate cyclase.
Reference sequence:
MMDVNSSGRPDLYGHLRSFLLPEVGRGLPDLSPDGGADPVAGSWAPHLLSEVTASPAPTWDAPPDNASGCGEQINYGRVEKVVIGSILTLITLLTIAGNCLVVISVCFVKKLRQPSNYLIVSLALADLSVAVAVMPFVSVTDLIGGKWIFGHFFCNVFIAMDVMCCTASIMTLCVISIDRYLGITRPLTYPVRQNGKCMAKMILSVWLLSASITLPPLFGWAQNVNDDKVCLISQDFGYTIYSTAVAFYIPMSVMLFMYYQIYKAARKSAAKHKFPGFPRVEPDSVIALNGIVKLQKEVEECANLSRLLKHERKNISIFKREQKAATTLGIIVGAFTVCWLPFFLLSTARPFICGTSCSCIPLWVERTFLWLGYANSLINPFIYAFFNRDLRTTYRSLLQCQYRNINRKLSAAGMHEALKLAERPERPEFVLRACTRRVLLRPEKRPPVSVWVLQSPDHHNWLADKMLTTVEKKVMIHD
UniProt ID: P34969
Variant: P -> L at position 279-279
Variant annotation: in dbSNP:rs114969659
Protein function: This is one of the several different receptors for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. The activity of this receptor is mediated by G proteins that stimulate adenylate cyclase.
Reference sequence:
MMDVNSSGRPDLYGHLRSFLLPEVGRGLPDLSPDGGADPVAGSWAPHLLSEVTASPAPTWDAPPDNASGCGEQINYGRVEKVVIGSILTLITLLTIAGNCLVVISVCFVKKLRQPSNYLIVSLALADLSVAVAVMPFVSVTDLIGGKWIFGHFFCNVFIAMDVMCCTASIMTLCVISIDRYLGITRPLTYPVRQNGKCMAKMILSVWLLSASITLPPLFGWAQNVNDDKVCLISQDFGYTIYSTAVAFYIPMSVMLFMYYQIYKAARKSAAKHKFPGFPRVEPDSVIALNGIVKLQKEVEECANLSRLLKHERKNISIFKREQKAATTLGIIVGAFTVCWLPFFLLSTARPFICGTSCSCIPLWVERTFLWLGYANSLINPFIYAFFNRDLRTTYRSLLQCQYRNINRKLSAAGMHEALKLAERPERPEFVLRACTRRVLLRPEKRPPVSVWVLQSPDHHNWLADKMLTTVEKKVMIHD
UniProt ID: P34969
Variant: P -> Q at position 448-448
Variant annotation: in dbSNP:rs33954285
Protein function: This is one of the several different receptors for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. The activity of this receptor is mediated by G proteins that stimulate adenylate cyclase.
Reference sequence:
MMDVNSSGRPDLYGHLRSFLLPEVGRGLPDLSPDGGADPVAGSWAPHLLSEVTASPAPTWDAPPDNASGCGEQINYGRVEKVVIGSILTLITLLTIAGNCLVVISVCFVKKLRQPSNYLIVSLALADLSVAVAVMPFVSVTDLIGGKWIFGHFFCNVFIAMDVMCCTASIMTLCVISIDRYLGITRPLTYPVRQNGKCMAKMILSVWLLSASITLPPLFGWAQNVNDDKVCLISQDFGYTIYSTAVAFYIPMSVMLFMYYQIYKAARKSAAKHKFPGFPRVEPDSVIALNGIVKLQKEVEECANLSRLLKHERKNISIFKREQKAATTLGIIVGAFTVCWLPFFLLSTARPFICGTSCSCIPLWVERTFLWLGYANSLINPFIYAFFNRDLRTTYRSLLQCQYRNINRKLSAAGMHEALKLAERPERPEFVLRACTRRVLLRPEKRPPVSVWVLQSPDHHNWLADKMLTTVEKKVMIHD
UniProt ID: P34980
Variant: P -> RA at position 152-152
Protein function: Receptor for prostaglandin E2 (PGE2); ligand binding can activate several distinct signaling cascades, resulting in activation or inhibition of adenylate cyclase.
Reference sequence:
MAGVWAPEHSVEAHSNQSSAADGCGSVSVAFPITMMVTGFVGNALAMLLVVRSYRRRESKRKKSFLLCIGWLALTDLVGQLLTSPVVILVYLSQRRWEQLDPSGRLCTFFGLTMTVFGLSSLLVASAMAVERALAIRAPHWYASHMKTRATPVLLGVWLSVLAFALLPVLGVGRYSVQWPGTWCFISTGPAGNETDSAREPGSVAFASAFACLGLLALVVTFACNLATIKALVSRCRAKAAASQSSAQWGRITTETAIQLMGIMCVLSVCWSPLLIMMLKMIFNQMSVEQCKTQMGKEKECNSFLIAVRLASLNQILDPWVYLLLRKILLRKFCQIRDHTNYASSSTSLPCPGSSVLMWSDQLER
UniProt ID: P34981
Variant: N -> K at position 10-10
Variant annotation: in dbSNP:rs5774
Protein function: Receptor for thyrotropin-releasing hormone (TRH). Upon ligand binding, this G-protein-coupled receptor triggers activation of the phosphatidylinositol (IP3)-calcium-protein kinase C (PKC) pathway.
Reference sequence:
MENETVSELNQTQLQPRAVVALEYQVVTILLVLIICGLGIVGNIMVVLVVMRTKHMRTPTNCYLVSLAVADLMVLVAAGLPNITDSIYGSWVYGYVGCLCITYLQYLGINASSCSITAFTIERYIAICHPIKAQFLCTFSRAKKIIIFVWAFTSLYCMLWFFLLDLNISTYKDAIVISCGYKISRNYYSPIYLMDFGVFYVVPMILATVLYGFIARILFLNPIPSDPKENSKTWKNDSTHQNTNLNVNTSNRCFNSTVSSRKQVTKMLAVVVILFALLWMPYRTLVVVNSFLSSPFQENWFLLFCRICIYLNSAINPVIYNLMSQKFRAAFRKLCNCKQKPTEKPANYSVALNYSVIKESDHFSTELDDITVTDTYLSATKVSFDDTCLASEVSFSQS
UniProt ID: P34981
Variant: P -> R at position 81-81
Variant annotation: in CHNG7; loss of thyrotropin-releasing hormone receptor activity; no effect on localization to plasma membrane
Effect: loss
Target: thyrotropinreleasing hormone receptor activity
Protein function: Receptor for thyrotropin-releasing hormone (TRH). Upon ligand binding, this G-protein-coupled receptor triggers activation of the phosphatidylinositol (IP3)-calcium-protein kinase C (PKC) pathway.
Reference sequence:
MENETVSELNQTQLQPRAVVALEYQVVTILLVLIICGLGIVGNIMVVLVVMRTKHMRTPTNCYLVSLAVADLMVLVAAGLPNITDSIYGSWVYGYVGCLCITYLQYLGINASSCSITAFTIERYIAICHPIKAQFLCTFSRAKKIIIFVWAFTSLYCMLWFFLLDLNISTYKDAIVISCGYKISRNYYSPIYLMDFGVFYVVPMILATVLYGFIARILFLNPIPSDPKENSKTWKNDSTHQNTNLNVNTSNRCFNSTVSSRKQVTKMLAVVVILFALLWMPYRTLVVVNSFLSSPFQENWFLLFCRICIYLNSAINPVIYNLMSQKFRAAFRKLCNCKQKPTEKPANYSVALNYSVIKESDHFSTELDDITVTDTYLSATKVSFDDTCLASEVSFSQS
UniProt ID: P34981
Variant: SITA -> T at position 115-118
Variant annotation: in CHNG7; loss of thyrotropin-releasing hormone receptor activity
Effect: loss
Protein function: Receptor for thyrotropin-releasing hormone (TRH). Upon ligand binding, this G-protein-coupled receptor triggers activation of the phosphatidylinositol (IP3)-calcium-protein kinase C (PKC) pathway.
Reference sequence:
MENETVSELNQTQLQPRAVVALEYQVVTILLVLIICGLGIVGNIMVVLVVMRTKHMRTPTNCYLVSLAVADLMVLVAAGLPNITDSIYGSWVYGYVGCLCITYLQYLGINASSCSITAFTIERYIAICHPIKAQFLCTFSRAKKIIIFVWAFTSLYCMLWFFLLDLNISTYKDAIVISCGYKISRNYYSPIYLMDFGVFYVVPMILATVLYGFIARILFLNPIPSDPKENSKTWKNDSTHQNTNLNVNTSNRCFNSTVSSRKQVTKMLAVVVILFALLWMPYRTLVVVNSFLSSPFQENWFLLFCRICIYLNSAINPVIYNLMSQKFRAAFRKLCNCKQKPTEKPANYSVALNYSVIKESDHFSTELDDITVTDTYLSATKVSFDDTCLASEVSFSQS
UniProt ID: P34981
Variant: I -> T at position 131-131
Variant annotation: in CHNG7; decreased affinity for TRH
Protein function: Receptor for thyrotropin-releasing hormone (TRH). Upon ligand binding, this G-protein-coupled receptor triggers activation of the phosphatidylinositol (IP3)-calcium-protein kinase C (PKC) pathway.
Reference sequence:
MENETVSELNQTQLQPRAVVALEYQVVTILLVLIICGLGIVGNIMVVLVVMRTKHMRTPTNCYLVSLAVADLMVLVAAGLPNITDSIYGSWVYGYVGCLCITYLQYLGINASSCSITAFTIERYIAICHPIKAQFLCTFSRAKKIIIFVWAFTSLYCMLWFFLLDLNISTYKDAIVISCGYKISRNYYSPIYLMDFGVFYVVPMILATVLYGFIARILFLNPIPSDPKENSKTWKNDSTHQNTNLNVNTSNRCFNSTVSSRKQVTKMLAVVVILFALLWMPYRTLVVVNSFLSSPFQENWFLLFCRICIYLNSAINPVIYNLMSQKFRAAFRKLCNCKQKPTEKPANYSVALNYSVIKESDHFSTELDDITVTDTYLSATKVSFDDTCLASEVSFSQS
UniProt ID: P34981
Variant: I -> M at position 168-168
Variant annotation: in dbSNP:rs13306060
Protein function: Receptor for thyrotropin-releasing hormone (TRH). Upon ligand binding, this G-protein-coupled receptor triggers activation of the phosphatidylinositol (IP3)-calcium-protein kinase C (PKC) pathway.
Reference sequence:
MENETVSELNQTQLQPRAVVALEYQVVTILLVLIICGLGIVGNIMVVLVVMRTKHMRTPTNCYLVSLAVADLMVLVAAGLPNITDSIYGSWVYGYVGCLCITYLQYLGINASSCSITAFTIERYIAICHPIKAQFLCTFSRAKKIIIFVWAFTSLYCMLWFFLLDLNISTYKDAIVISCGYKISRNYYSPIYLMDFGVFYVVPMILATVLYGFIARILFLNPIPSDPKENSKTWKNDSTHQNTNLNVNTSNRCFNSTVSSRKQVTKMLAVVVILFALLWMPYRTLVVVNSFLSSPFQENWFLLFCRICIYLNSAINPVIYNLMSQKFRAAFRKLCNCKQKPTEKPANYSVALNYSVIKESDHFSTELDDITVTDTYLSATKVSFDDTCLASEVSFSQS
UniProt ID: P34982
Variant: R -> Q at position 25-25
Variant annotation: in dbSNP:rs769423
Protein function: Odorant receptor which may be involved in sperm chemotaxis. Bourgeonal is a strong chemoattractant for sperm in vitro and is shown to be a strong agonist for OR1D2 in vitro. May also function in olfactory reception.
Reference sequence:
MDGGNQSEGSEFLLLGMSESPEQQRILFWMFLSMYLVTVVGNVLIILAISSDSRLHTPVYFFLANLSFTDLFFVTNTIPKMLVNLQSHNKAISYAGCLTQLYFLVSLVALDNLILAVMAYDRYVAICCPLHYTTAMSPKLCILLLSLCWVLSVLYGLIHTLLMTRVTFCGSRKIHYIFCEMYVLLRMACSNIQINHTVLIATGCFIFLIPFGFVIISYVLIIRAILRIPSVSKKYKAFSTCASHLGAVSLFYGTLCMVYLKPLHTYSVKDSVATVMYAVVTPMMNPFIYSLRNKDMHGALGRLLDKHFKRLT
UniProt ID: P34982
Variant: F -> Y at position 31-31
Variant annotation: in dbSNP:rs9916628
Protein function: Odorant receptor which may be involved in sperm chemotaxis. Bourgeonal is a strong chemoattractant for sperm in vitro and is shown to be a strong agonist for OR1D2 in vitro. May also function in olfactory reception.
Reference sequence:
MDGGNQSEGSEFLLLGMSESPEQQRILFWMFLSMYLVTVVGNVLIILAISSDSRLHTPVYFFLANLSFTDLFFVTNTIPKMLVNLQSHNKAISYAGCLTQLYFLVSLVALDNLILAVMAYDRYVAICCPLHYTTAMSPKLCILLLSLCWVLSVLYGLIHTLLMTRVTFCGSRKIHYIFCEMYVLLRMACSNIQINHTVLIATGCFIFLIPFGFVIISYVLIIRAILRIPSVSKKYKAFSTCASHLGAVSLFYGTLCMVYLKPLHTYSVKDSVATVMYAVVTPMMNPFIYSLRNKDMHGALGRLLDKHFKRLT
UniProt ID: P34982
Variant: V -> M at position 214-214
Variant annotation: in dbSNP:rs55803944
Protein function: Odorant receptor which may be involved in sperm chemotaxis. Bourgeonal is a strong chemoattractant for sperm in vitro and is shown to be a strong agonist for OR1D2 in vitro. May also function in olfactory reception.
Reference sequence:
MDGGNQSEGSEFLLLGMSESPEQQRILFWMFLSMYLVTVVGNVLIILAISSDSRLHTPVYFFLANLSFTDLFFVTNTIPKMLVNLQSHNKAISYAGCLTQLYFLVSLVALDNLILAVMAYDRYVAICCPLHYTTAMSPKLCILLLSLCWVLSVLYGLIHTLLMTRVTFCGSRKIHYIFCEMYVLLRMACSNIQINHTVLIATGCFIFLIPFGFVIISYVLIIRAILRIPSVSKKYKAFSTCASHLGAVSLFYGTLCMVYLKPLHTYSVKDSVATVMYAVVTPMMNPFIYSLRNKDMHGALGRLLDKHFKRLT
UniProt ID: P34982
Variant: T -> I at position 240-240
Variant annotation: in dbSNP:rs4300683
Protein function: Odorant receptor which may be involved in sperm chemotaxis. Bourgeonal is a strong chemoattractant for sperm in vitro and is shown to be a strong agonist for OR1D2 in vitro. May also function in olfactory reception.
Reference sequence:
MDGGNQSEGSEFLLLGMSESPEQQRILFWMFLSMYLVTVVGNVLIILAISSDSRLHTPVYFFLANLSFTDLFFVTNTIPKMLVNLQSHNKAISYAGCLTQLYFLVSLVALDNLILAVMAYDRYVAICCPLHYTTAMSPKLCILLLSLCWVLSVLYGLIHTLLMTRVTFCGSRKIHYIFCEMYVLLRMACSNIQINHTVLIATGCFIFLIPFGFVIISYVLIIRAILRIPSVSKKYKAFSTCASHLGAVSLFYGTLCMVYLKPLHTYSVKDSVATVMYAVVTPMMNPFIYSLRNKDMHGALGRLLDKHFKRLT
UniProt ID: P34995
Variant: A -> T at position 71-71
Variant annotation: in dbSNP:rs1057362
Protein function: Receptor for prostaglandin E2 (PGE2). The activity of this receptor is mediated by G(q) proteins which activate a phosphatidylinositol-calcium second messenger system. May play a role as an important modulator of renal function. Implicated the smooth muscle contractile response to PGE2 in various tissues.
Reference sequence:
MSPCGPLNLSLAGEATTCAAPWVPNTSAVPPSGASPALPIFSMTLGAVSNLLALALLAQAAGRLRRRRSAATFLLFVASLLATDLAGHVIPGALVLRLYTAGRAPAGGACHFLGGCMVFFGLCPLLLGCGMAVERCVGVTRPLLHAARVSVARARLALAAVAAVALAVALLPLARVGRYELQYPGTWCFIGLGPPGGWRQALLAGLFASLGLVALLAALVCNTLSGLALLRARWRRRSRRPPPASGPDSRRRWGAHGPRSASASSASSIASASTFFGGSRSSGSARRARAHDVEMVGQLVGIMVVSCICWSPMLVLVALAVGGWSSTSLQRPLFLAVRLASWNQILDPWVYILLRQAVLRQLLRLLPPRAGAKGGPAGLGLTPSAWEASSLRSSRHSGLSHF
UniProt ID: P34995
Variant: T -> M at position 223-223
Variant annotation: in dbSNP:rs28364042
Protein function: Receptor for prostaglandin E2 (PGE2). The activity of this receptor is mediated by G(q) proteins which activate a phosphatidylinositol-calcium second messenger system. May play a role as an important modulator of renal function. Implicated the smooth muscle contractile response to PGE2 in various tissues.
Reference sequence:
MSPCGPLNLSLAGEATTCAAPWVPNTSAVPPSGASPALPIFSMTLGAVSNLLALALLAQAAGRLRRRRSAATFLLFVASLLATDLAGHVIPGALVLRLYTAGRAPAGGACHFLGGCMVFFGLCPLLLGCGMAVERCVGVTRPLLHAARVSVARARLALAAVAAVALAVALLPLARVGRYELQYPGTWCFIGLGPPGGWRQALLAGLFASLGLVALLAALVCNTLSGLALLRARWRRRSRRPPPASGPDSRRRWGAHGPRSASASSASSIASASTFFGGSRSSGSARRARAHDVEMVGQLVGIMVVSCICWSPMLVLVALAVGGWSSTSLQRPLFLAVRLASWNQILDPWVYILLRQAVLRQLLRLLPPRAGAKGGPAGLGLTPSAWEASSLRSSRHSGLSHF
UniProt ID: P34995
Variant: H -> R at position 256-256
Variant annotation: in dbSNP:rs7249305
Protein function: Receptor for prostaglandin E2 (PGE2). The activity of this receptor is mediated by G(q) proteins which activate a phosphatidylinositol-calcium second messenger system. May play a role as an important modulator of renal function. Implicated the smooth muscle contractile response to PGE2 in various tissues.
Reference sequence:
MSPCGPLNLSLAGEATTCAAPWVPNTSAVPPSGASPALPIFSMTLGAVSNLLALALLAQAAGRLRRRRSAATFLLFVASLLATDLAGHVIPGALVLRLYTAGRAPAGGACHFLGGCMVFFGLCPLLLGCGMAVERCVGVTRPLLHAARVSVARARLALAAVAAVALAVALLPLARVGRYELQYPGTWCFIGLGPPGGWRQALLAGLFASLGLVALLAALVCNTLSGLALLRARWRRRSRRPPPASGPDSRRRWGAHGPRSASASSASSIASASTFFGGSRSSGSARRARAHDVEMVGQLVGIMVVSCICWSPMLVLVALAVGGWSSTSLQRPLFLAVRLASWNQILDPWVYILLRQAVLRQLLRLLPPRAGAKGGPAGLGLTPSAWEASSLRSSRHSGLSHF
UniProt ID: P35021
Variant: A -> S at position 196-196
Variant annotation: in strain: MT-3 and MT-4
Protein function: This protein promotes the GTP-dependent binding of aminoacyl-tRNA to the A-site of ribosomes during protein biosynthesis.
Reference sequence:
MSQKPHLNLIVIGHIDHGKSTLVGRLLMDRGFIDEKTVKEAEEAAKKLGKESEKFAFLLDRLKEERERGVTINLTFMRFETKKYFFTIIDAPGHRDFVKNMITGASQADAAILVVSAKKGEYEAGMSVEGQTREHIILAKTMGLDQLIVAVNKMDLTEPPYDEKRYKEIVDQVSKFMRSYGFNTNKVRFVPVVAPAGDNITHRSENMKWYNGPTLEEYLDQLELPPKPVDKPLRIPIQDVYSISGVGTVPVGRVESGVLKVGDKIVFMPAGKVGEVRSIETHHTKMDKAEPGDNIGFNVRGVEKKDIKRGDVVGHPNNPPTVADEFTARIIVVWHPTALANGYTPVIHVHTASVACRVSELVSKLDPRTGQEAEKNPQFLKQGDVAIVKFKPIKPLCVEKYNEFPPLGRFAMRDMGKTVGVGIIVDVKPAKVEIK
UniProt ID: P35021
Variant: R -> K at position 203-203
Variant annotation: in strain: MT-3 and MT-4
Protein function: This protein promotes the GTP-dependent binding of aminoacyl-tRNA to the A-site of ribosomes during protein biosynthesis.
Reference sequence:
MSQKPHLNLIVIGHIDHGKSTLVGRLLMDRGFIDEKTVKEAEEAAKKLGKESEKFAFLLDRLKEERERGVTINLTFMRFETKKYFFTIIDAPGHRDFVKNMITGASQADAAILVVSAKKGEYEAGMSVEGQTREHIILAKTMGLDQLIVAVNKMDLTEPPYDEKRYKEIVDQVSKFMRSYGFNTNKVRFVPVVAPAGDNITHRSENMKWYNGPTLEEYLDQLELPPKPVDKPLRIPIQDVYSISGVGTVPVGRVESGVLKVGDKIVFMPAGKVGEVRSIETHHTKMDKAEPGDNIGFNVRGVEKKDIKRGDVVGHPNNPPTVADEFTARIIVVWHPTALANGYTPVIHVHTASVACRVSELVSKLDPRTGQEAEKNPQFLKQGDVAIVKFKPIKPLCVEKYNEFPPLGRFAMRDMGKTVGVGIIVDVKPAKVEIK
UniProt ID: P35021
Variant: I -> L at position 347-347
Variant annotation: in strain: MT-3 and MT-4
Protein function: This protein promotes the GTP-dependent binding of aminoacyl-tRNA to the A-site of ribosomes during protein biosynthesis.
Reference sequence:
MSQKPHLNLIVIGHIDHGKSTLVGRLLMDRGFIDEKTVKEAEEAAKKLGKESEKFAFLLDRLKEERERGVTINLTFMRFETKKYFFTIIDAPGHRDFVKNMITGASQADAAILVVSAKKGEYEAGMSVEGQTREHIILAKTMGLDQLIVAVNKMDLTEPPYDEKRYKEIVDQVSKFMRSYGFNTNKVRFVPVVAPAGDNITHRSENMKWYNGPTLEEYLDQLELPPKPVDKPLRIPIQDVYSISGVGTVPVGRVESGVLKVGDKIVFMPAGKVGEVRSIETHHTKMDKAEPGDNIGFNVRGVEKKDIKRGDVVGHPNNPPTVADEFTARIIVVWHPTALANGYTPVIHVHTASVACRVSELVSKLDPRTGQEAEKNPQFLKQGDVAIVKFKPIKPLCVEKYNEFPPLGRFAMRDMGKTVGVGIIVDVKPAKVEIK
UniProt ID: P35026
Variant: G -> S at position 14-14
Variant annotation: in strain: MT-4
Protein function: One of the primary rRNA binding proteins, it binds directly to 16S rRNA where it nucleates assembly of the head domain of the 30S subunit. Is located at the subunit interface close to the decoding center.
Reference sequence:
MSLENLQLDIKVFGKWDTKVEIRDPSLKKYISLMPVYLPHTGGRHEHRRFGKAKVPIVERLINQIMRPGRNKGKKHLAYNIVKLAFDIIYLKTGQNPIQVLVRAIENSAPREEVTRIMYGGIVYYVAVDVSPQRRIDLALRHIATGAKDASFNNPKPIEEVLAEEIIAAANNDSKSFAIKRKEEIERIALSSR
UniProt ID: P35026
Variant: S -> A at position 131-131
Variant annotation: in strain: MT-4
Protein function: One of the primary rRNA binding proteins, it binds directly to 16S rRNA where it nucleates assembly of the head domain of the 30S subunit. Is located at the subunit interface close to the decoding center.
Reference sequence:
MSLENLQLDIKVFGKWDTKVEIRDPSLKKYISLMPVYLPHTGGRHEHRRFGKAKVPIVERLINQIMRPGRNKGKKHLAYNIVKLAFDIIYLKTGQNPIQVLVRAIENSAPREEVTRIMYGGIVYYVAVDVSPQRRIDLALRHIATGAKDASFNNPKPIEEVLAEEIIAAANNDSKSFAIKRKEEIERIALSSR
UniProt ID: P35026
Variant: A -> S at position 150-150
Variant annotation: in strain: MT-4
Protein function: One of the primary rRNA binding proteins, it binds directly to 16S rRNA where it nucleates assembly of the head domain of the 30S subunit. Is located at the subunit interface close to the decoding center.
Reference sequence:
MSLENLQLDIKVFGKWDTKVEIRDPSLKKYISLMPVYLPHTGGRHEHRRFGKAKVPIVERLINQIMRPGRNKGKKHLAYNIVKLAFDIIYLKTGQNPIQVLVRAIENSAPREEVTRIMYGGIVYYVAVDVSPQRRIDLALRHIATGAKDASFNNPKPIEEVLAEEIIAAANNDSKSFAIKRKEEIERIALSSR
UniProt ID: P35026
Variant: S -> P at position 174-174
Variant annotation: in strain: MT-4
Protein function: One of the primary rRNA binding proteins, it binds directly to 16S rRNA where it nucleates assembly of the head domain of the 30S subunit. Is located at the subunit interface close to the decoding center.
Reference sequence:
MSLENLQLDIKVFGKWDTKVEIRDPSLKKYISLMPVYLPHTGGRHEHRRFGKAKVPIVERLINQIMRPGRNKGKKHLAYNIVKLAFDIIYLKTGQNPIQVLVRAIENSAPREEVTRIMYGGIVYYVAVDVSPQRRIDLALRHIATGAKDASFNNPKPIEEVLAEEIIAAANNDSKSFAIKRKEEIERIALSSR
UniProt ID: P35030
Variant: A -> V at position 174-174
Variant annotation: in dbSNP:rs11547028
Protein function: Digestive protease that cleaves proteins preferentially after an Arg residue and has proteolytic activity toward Kunitz-type trypsin inhibitors.
Reference sequence:
MCGPDDRCPARWPGPGRAVKCGKGLAAARPGRVERGGAQRGGAGLELHPLLGGRTWRAARDADGCEALGTVAVPFDDDDKIVGGYTCEENSLPYQVSLNSGSHFCGGSLISEQWVVSAAHCYKTRIQVRLGEHNIKVLEGNEQFINAAKIIRHPKYNRDTLDNDIMLIKLSSPAVINARVSTISLPTTPPAAGTECLISGWGNTLSFGADYPDELKCLDAPVLTQAECKASYPGKITNSMFCVGFLEGGKDSCQRDSGGPVVCNGQLQGVVSWGHGCAWKNRPGVYTKVYNYVDWIKDTIAANS
UniProt ID: P35030
Variant: T -> A at position 188-188
Variant annotation: in dbSNP:rs855581
Protein function: Digestive protease that cleaves proteins preferentially after an Arg residue and has proteolytic activity toward Kunitz-type trypsin inhibitors.
Reference sequence:
MCGPDDRCPARWPGPGRAVKCGKGLAAARPGRVERGGAQRGGAGLELHPLLGGRTWRAARDADGCEALGTVAVPFDDDDKIVGGYTCEENSLPYQVSLNSGSHFCGGSLISEQWVVSAAHCYKTRIQVRLGEHNIKVLEGNEQFINAAKIIRHPKYNRDTLDNDIMLIKLSSPAVINARVSTISLPTTPPAAGTECLISGWGNTLSFGADYPDELKCLDAPVLTQAECKASYPGKITNSMFCVGFLEGGKDSCQRDSGGPVVCNGQLQGVVSWGHGCAWKNRPGVYTKVYNYVDWIKDTIAANS
UniProt ID: P35030
Variant: T -> S at position 224-224
Variant annotation: in dbSNP:rs1063273
Protein function: Digestive protease that cleaves proteins preferentially after an Arg residue and has proteolytic activity toward Kunitz-type trypsin inhibitors.
Reference sequence:
MCGPDDRCPARWPGPGRAVKCGKGLAAARPGRVERGGAQRGGAGLELHPLLGGRTWRAARDADGCEALGTVAVPFDDDDKIVGGYTCEENSLPYQVSLNSGSHFCGGSLISEQWVVSAAHCYKTRIQVRLGEHNIKVLEGNEQFINAAKIIRHPKYNRDTLDNDIMLIKLSSPAVINARVSTISLPTTPPAAGTECLISGWGNTLSFGADYPDELKCLDAPVLTQAECKASYPGKITNSMFCVGFLEGGKDSCQRDSGGPVVCNGQLQGVVSWGHGCAWKNRPGVYTKVYNYVDWIKDTIAANS
UniProt ID: P35030
Variant: Y -> C at position 232-232
Variant annotation: in dbSNP:rs1048379
Protein function: Digestive protease that cleaves proteins preferentially after an Arg residue and has proteolytic activity toward Kunitz-type trypsin inhibitors.
Reference sequence:
MCGPDDRCPARWPGPGRAVKCGKGLAAARPGRVERGGAQRGGAGLELHPLLGGRTWRAARDADGCEALGTVAVPFDDDDKIVGGYTCEENSLPYQVSLNSGSHFCGGSLISEQWVVSAAHCYKTRIQVRLGEHNIKVLEGNEQFINAAKIIRHPKYNRDTLDNDIMLIKLSSPAVINARVSTISLPTTPPAAGTECLISGWGNTLSFGADYPDELKCLDAPVLTQAECKASYPGKITNSMFCVGFLEGGKDSCQRDSGGPVVCNGQLQGVVSWGHGCAWKNRPGVYTKVYNYVDWIKDTIAANS
UniProt ID: P35070
Variant: C -> G at position 7-7
Variant annotation: in dbSNP:rs28549760
Protein function: Growth factor that binds to EGFR, ERBB4 and other EGF receptor family members. Potent mitogen for retinal pigment epithelial cells and vascular smooth muscle cells.
Reference sequence:
MDRAARCSGASSLPLLLALALGLVILHCVVADGNSTRSPETNGLLCGDPEENCAATTTQSKRKGHFSRCPKQYKHYCIKGRCRFVVAEQTPSCVCDEGYIGARCERVDLFYLRGDRGQILVICLIAVMVVFIILVIGVCTCCHPLRKRRKRKKKEEEMETLGKDITPINEDIEETNIA
UniProt ID: P35070
Variant: L -> F at position 44-44
Variant annotation: in dbSNP:rs56320257
Protein function: Growth factor that binds to EGFR, ERBB4 and other EGF receptor family members. Potent mitogen for retinal pigment epithelial cells and vascular smooth muscle cells.
Reference sequence:
MDRAARCSGASSLPLLLALALGLVILHCVVADGNSTRSPETNGLLCGDPEENCAATTTQSKRKGHFSRCPKQYKHYCIKGRCRFVVAEQTPSCVCDEGYIGARCERVDLFYLRGDRGQILVICLIAVMVVFIILVIGVCTCCHPLRKRRKRKKKEEEMETLGKDITPINEDIEETNIA
UniProt ID: P35070
Variant: L -> M at position 124-124
Variant annotation: in dbSNP:rs11938093
Protein function: Growth factor that binds to EGFR, ERBB4 and other EGF receptor family members. Potent mitogen for retinal pigment epithelial cells and vascular smooth muscle cells.
Reference sequence:
MDRAARCSGASSLPLLLALALGLVILHCVVADGNSTRSPETNGLLCGDPEENCAATTTQSKRKGHFSRCPKQYKHYCIKGRCRFVVAEQTPSCVCDEGYIGARCERVDLFYLRGDRGQILVICLIAVMVVFIILVIGVCTCCHPLRKRRKRKKKEEEMETLGKDITPINEDIEETNIA
UniProt ID: P35075
Variant: S -> F at position 29-29
Variant annotation: in strain: Isolate French
Protein function: Component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex) that is part of the mitochondrial respiratory chain. The b-c1 complex mediates electron transfer from ubiquinol to cytochrome c. Contributes to the generation of a proton gradient across the mitochondrial membrane that is then used for ATP synthesis.
Reference sequence:
MAPNIRKSHPLLKMINNSLIDLPTPPNISAWWNFGSLLAMCLITQILTGLLLAMHYTADTSLAFSSVAHTCRNVQYGWLIRNLHANGASFFFICIFLHIGRGLYYGSYLYKETWNTGVILLLTLMATAFVGYVLPWGQMSFWGATVITNLFSAVPYIGQTLVEWAWGGFSVDNPTLTRFFALHFLLPFLIAGITIIHLTFLHESGSNNPLGISSDSDKIPFHPYYSIKDILGLTLMLTPFLTLALFSPNFLGDPENFTPANPLVTPPHIKPEWYFLFAYAILRSIPNKLGGVLALAASVLILLLIPFLHKSKQRTMTFRPLSQTLFWLLVANLLILTWIGSQPVEHPFIIIGQMASLSYFTILLILFPMIGMLENKMLNH
UniProt ID: P35075
Variant: A -> G at position 39-39
Variant annotation: in strain: Isolate French
Protein function: Component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex) that is part of the mitochondrial respiratory chain. The b-c1 complex mediates electron transfer from ubiquinol to cytochrome c. Contributes to the generation of a proton gradient across the mitochondrial membrane that is then used for ATP synthesis.
Reference sequence:
MAPNIRKSHPLLKMINNSLIDLPTPPNISAWWNFGSLLAMCLITQILTGLLLAMHYTADTSLAFSSVAHTCRNVQYGWLIRNLHANGASFFFICIFLHIGRGLYYGSYLYKETWNTGVILLLTLMATAFVGYVLPWGQMSFWGATVITNLFSAVPYIGQTLVEWAWGGFSVDNPTLTRFFALHFLLPFLIAGITIIHLTFLHESGSNNPLGISSDSDKIPFHPYYSIKDILGLTLMLTPFLTLALFSPNFLGDPENFTPANPLVTPPHIKPEWYFLFAYAILRSIPNKLGGVLALAASVLILLLIPFLHKSKQRTMTFRPLSQTLFWLLVANLLILTWIGSQPVEHPFIIIGQMASLSYFTILLILFPMIGMLENKMLNH
UniProt ID: P35075
Variant: S -> C at position 247-247
Variant annotation: in strain: Isolate French
Protein function: Component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex) that is part of the mitochondrial respiratory chain. The b-c1 complex mediates electron transfer from ubiquinol to cytochrome c. Contributes to the generation of a proton gradient across the mitochondrial membrane that is then used for ATP synthesis.
Reference sequence:
MAPNIRKSHPLLKMINNSLIDLPTPPNISAWWNFGSLLAMCLITQILTGLLLAMHYTADTSLAFSSVAHTCRNVQYGWLIRNLHANGASFFFICIFLHIGRGLYYGSYLYKETWNTGVILLLTLMATAFVGYVLPWGQMSFWGATVITNLFSAVPYIGQTLVEWAWGGFSVDNPTLTRFFALHFLLPFLIAGITIIHLTFLHESGSNNPLGISSDSDKIPFHPYYSIKDILGLTLMLTPFLTLALFSPNFLGDPENFTPANPLVTPPHIKPEWYFLFAYAILRSIPNKLGGVLALAASVLILLLIPFLHKSKQRTMTFRPLSQTLFWLLVANLLILTWIGSQPVEHPFIIIGQMASLSYFTILLILFPMIGMLENKMLNH
UniProt ID: P35075
Variant: P -> A at position 267-267
Variant annotation: in strain: Isolate French
Protein function: Component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex) that is part of the mitochondrial respiratory chain. The b-c1 complex mediates electron transfer from ubiquinol to cytochrome c. Contributes to the generation of a proton gradient across the mitochondrial membrane that is then used for ATP synthesis.
Reference sequence:
MAPNIRKSHPLLKMINNSLIDLPTPPNISAWWNFGSLLAMCLITQILTGLLLAMHYTADTSLAFSSVAHTCRNVQYGWLIRNLHANGASFFFICIFLHIGRGLYYGSYLYKETWNTGVILLLTLMATAFVGYVLPWGQMSFWGATVITNLFSAVPYIGQTLVEWAWGGFSVDNPTLTRFFALHFLLPFLIAGITIIHLTFLHESGSNNPLGISSDSDKIPFHPYYSIKDILGLTLMLTPFLTLALFSPNFLGDPENFTPANPLVTPPHIKPEWYFLFAYAILRSIPNKLGGVLALAASVLILLLIPFLHKSKQRTMTFRPLSQTLFWLLVANLLILTWIGSQPVEHPFIIIGQMASLSYFTILLILFPMIGMLENKMLNH