sujigwak/NVAR huggingface dataset:
UniProt ID: P0C2V9
Variant: P -> S at position 114-114
Variant annotation: in plasmid pYVa127/90
Protein function: Functions as a specific chaperone for YopT.
Reference sequence:
MQTTFTELMQQLFLKLGLNHQVNENDVYTFEVDGHIQVLIACYHQQWVQLFSELGADLPTNDNLFGEHWPAHVQGRLDGKSILWSQQSLVGLDIDEMQAWLERFIDDIEQRKEPQNTKFQPNSTSPILFI
UniProt ID: P0C5H5
Variant: EHG -> ARR at position 100-102
Variant annotation: in strain: cv. Doongara, cv. Habataki, cv. IR24 and cv. Milyang 23; allele sd-1; semidwarfing
Protein function: Key oxidase enzyme in the biosynthesis of gibberellin that catalyzes the conversion of GA53 to GA20 via a three-step oxidation at C-20 of the GA skeleton.
Reference sequence:
MVAEHPTPPQPHQPPPMDSTAGSGIAAPAAAAVCDLRMEPKIPEPFVWPNGDARPASAAELDMPVVDVGVLRDGDAEGLRRAAAQVAAACATHGFFQVSEHGVDAALARAALDGASDFFRLPLAEKRRARRVPGTVSGYTSAHADRFASKLPWKETLSFGFHDRAAAPVVADYFSSTLGPDFAPMGRVYQKYCEEMKELSLTIMELLELSLGVERGYYREFFADSSSIMRCNYYPPCPEPERTLGTGPHCDPTALTILLQDDVGGLEVLVDGEWRPVSPVPGAMVINIGDTFMALSNGRYKSCLHRAVVNQRRERRSLAFFLCPREDRVVRPPPSAATPQHYPDFTWADLMRFTQRHYRADTRTLDAFTRWLAPPAADAAATAQVEAAS
UniProt ID: P0C601
Variant: E -> D at position 534-534
Variant annotation: in strain: 23, 3700, 3759, LIM1, LIM2 and LIM3
Protein function: E1 component of the 2-oxoglutarate dehydrogenase (OGDH) complex which catalyzes the decarboxylation of 2-oxoglutarate, the first step in the conversion of 2-oxoglutarate to succinyl-CoA and CO(2).
Reference sequence:
MTNERKEVSEAPVNFGANLGLMLDLYDDFLQDPSSVPEDLQVLFSIIKNDDSIVPALKSTSSQNSDGTIKRVMRLIDNIRQYGHLKADIYPVNPPKRKHVPKLEIEDFDLDQQTLEGISAGIVSDHFADIYDNAYEAILRMEKRYKGPIAFEYTHINNNTERGWLKRRIETPYKVTLNNNEKRALFKQLAYVEGFEKYLHKNFVGAKRFSIEGVDALVPMLQRTITIAAKEGIKNIQIGMAHRGRLNVLTHVLEKPYEMMISEFMHTDPMKFLPEDGSLQLTAGWTGDVKYHLGGIKTTDSYGTMQRIALANNPSHLEIVAPVVEGRTRAAQDDTQRAGAPTTDHHKAMPIIIHGDAAYPGQGINFETMNLGNLKGYSTGGSLHIITNNRIGFTTEPIDARSTTYSTDVAKGYDVPIFHVNADDVEATIEAIDIAMEFRKEFHKDVVIDLVGYRRFGHNEMDEPSITNPVPYQNIRKHDSVEYVFGKKLVNEGVISEDEMHSFIEQVQKELRQAHDKINKADKMDNPDMEKPAELALPLQADEQSFTFDHLKEINDALLTYPDGFNILKKLNKVLEKRHEPFNKEDGLVDWAQAEQLAFATILQDGTPIRLTGQDSERGTFSHRHAVLHDEQTGETYTPLHHVPDQKATFDIHNSPLSEAAVVGFEYGYNVENKKSFNIWEAQYGDFANMSQMIFDNFLFSSRSKWGERSGLTLFLPHAYEGQGPEHSSARLERFLQLAAENNCTVVNLSSSSNYFHLLRAQAASLDSEQMRPLVVMSPKSLLRNKTVAKPIDEFTSGGFEPILTESYQADKVTKVILATGKMFIDLKEALAKNPDESVLLVAIERLYPFPEEEIEALLAQLPKLEEVSWVQEEPKNQGAWLYVYPYVKVLVADKYDLSYHGRIQRAAPAEGDGEIHKLVQNKIIENALKNN
UniProt ID: P0C601
Variant: K -> N at position 864-864
Variant annotation: in strain: 23, 3700, 3759, LIM1, LIM2 and LIM3
Protein function: E1 component of the 2-oxoglutarate dehydrogenase (OGDH) complex which catalyzes the decarboxylation of 2-oxoglutarate, the first step in the conversion of 2-oxoglutarate to succinyl-CoA and CO(2).
Reference sequence:
MTNERKEVSEAPVNFGANLGLMLDLYDDFLQDPSSVPEDLQVLFSIIKNDDSIVPALKSTSSQNSDGTIKRVMRLIDNIRQYGHLKADIYPVNPPKRKHVPKLEIEDFDLDQQTLEGISAGIVSDHFADIYDNAYEAILRMEKRYKGPIAFEYTHINNNTERGWLKRRIETPYKVTLNNNEKRALFKQLAYVEGFEKYLHKNFVGAKRFSIEGVDALVPMLQRTITIAAKEGIKNIQIGMAHRGRLNVLTHVLEKPYEMMISEFMHTDPMKFLPEDGSLQLTAGWTGDVKYHLGGIKTTDSYGTMQRIALANNPSHLEIVAPVVEGRTRAAQDDTQRAGAPTTDHHKAMPIIIHGDAAYPGQGINFETMNLGNLKGYSTGGSLHIITNNRIGFTTEPIDARSTTYSTDVAKGYDVPIFHVNADDVEATIEAIDIAMEFRKEFHKDVVIDLVGYRRFGHNEMDEPSITNPVPYQNIRKHDSVEYVFGKKLVNEGVISEDEMHSFIEQVQKELRQAHDKINKADKMDNPDMEKPAELALPLQADEQSFTFDHLKEINDALLTYPDGFNILKKLNKVLEKRHEPFNKEDGLVDWAQAEQLAFATILQDGTPIRLTGQDSERGTFSHRHAVLHDEQTGETYTPLHHVPDQKATFDIHNSPLSEAAVVGFEYGYNVENKKSFNIWEAQYGDFANMSQMIFDNFLFSSRSKWGERSGLTLFLPHAYEGQGPEHSSARLERFLQLAAENNCTVVNLSSSSNYFHLLRAQAASLDSEQMRPLVVMSPKSLLRNKTVAKPIDEFTSGGFEPILTESYQADKVTKVILATGKMFIDLKEALAKNPDESVLLVAIERLYPFPEEEIEALLAQLPKLEEVSWVQEEPKNQGAWLYVYPYVKVLVADKYDLSYHGRIQRAAPAEGDGEIHKLVQNKIIENALKNN
UniProt ID: P0C645
Variant: I -> L at position 199-199
Variant annotation: in dbSNP:rs10143044
Protein function: Odorant receptor.
Reference sequence:
MEEAILLNQTSLVTYFRLRGLSVNHKARIAMFSMFLIFYVLTLIGNVLIVITIIYDHRLHTPMYFFLSNLSFIDVCHSTVTVPKMLRDVWSEEKLISFDACVTQMFFLHLFACTEIFLLTVMAYDRYVAICKPLQYMIVMNWKVCVLLAVALWTGGTIHSIALTSLTIKLPYCGPDEIDNFFCDVPQVIKLACIDTHVIEILIVSNSGLISVVCFVVLVVSYAVILVSLRQQISKGKRKALSTCAAHLTVVTLFLGHCIFIYSRPSTSLPEDKVVSVFFTAVTPLLNPIIYTLRNEEMKSALNKLVGRKERKEEK
UniProt ID: P0C645
Variant: R -> W at position 238-238
Variant annotation: in dbSNP:rs970025
Protein function: Odorant receptor.
Reference sequence:
MEEAILLNQTSLVTYFRLRGLSVNHKARIAMFSMFLIFYVLTLIGNVLIVITIIYDHRLHTPMYFFLSNLSFIDVCHSTVTVPKMLRDVWSEEKLISFDACVTQMFFLHLFACTEIFLLTVMAYDRYVAICKPLQYMIVMNWKVCVLLAVALWTGGTIHSIALTSLTIKLPYCGPDEIDNFFCDVPQVIKLACIDTHVIEILIVSNSGLISVVCFVVLVVSYAVILVSLRQQISKGKRKALSTCAAHLTVVTLFLGHCIFIYSRPSTSLPEDKVVSVFFTAVTPLLNPIIYTLRNEEMKSALNKLVGRKERKEEK
UniProt ID: P0C645
Variant: V -> A at position 274-274
Variant annotation: in dbSNP:rs7144135
Protein function: Odorant receptor.
Reference sequence:
MEEAILLNQTSLVTYFRLRGLSVNHKARIAMFSMFLIFYVLTLIGNVLIVITIIYDHRLHTPMYFFLSNLSFIDVCHSTVTVPKMLRDVWSEEKLISFDACVTQMFFLHLFACTEIFLLTVMAYDRYVAICKPLQYMIVMNWKVCVLLAVALWTGGTIHSIALTSLTIKLPYCGPDEIDNFFCDVPQVIKLACIDTHVIEILIVSNSGLISVVCFVVLVVSYAVILVSLRQQISKGKRKALSTCAAHLTVVTLFLGHCIFIYSRPSTSLPEDKVVSVFFTAVTPLLNPIIYTLRNEEMKSALNKLVGRKERKEEK
UniProt ID: P0C7L1
Variant: K -> N at position 78-78
Variant annotation: in dbSNP:rs11718350
Protein function: Probable serine protease inhibitor.
Reference sequence:
MKGICSDAILVLATSMWMAFAIDFPLPMASERGQLDKTIVECLKNVNKCWFLSYIKPSEPICGSDQVTYSSDCHLCSKILFEGLNITKLYDGQCENS
UniProt ID: P0C7M4
Variant: G -> R at position 68-68
Variant annotation: found in infertile men; uncertain significance; decreased induction of target genes expression; dbSNP:rs781837897
Protein function: Transcription factor maybe involved in reproductive processes. Modulates expression of target genes encoding proteins involved in processes relevant to spermatogenesis.
Reference sequence:
MEPPDQCSQYMTSLLSPAVDDEKELQDMNAMVLSLTEEVKEEEEDAQPEPEQGTAAGEKLKSAGAQGGEEKDGGGEEKDGGGAGVPGHLWEGNLEGTSGSDGNVEDSDQSEKEPGQQYSRPQGAVGGLEPGNAQQPNVHAFTPLQLQELECIFQREQFPSEFLRRRLARSMNVTELAVQIWFENRRAKWRRHQRALMARNMLPFMAVGQPVMVTAAEAITAPLFISGMRDDYFWDHSHSSSLCFPMPPFPPPSLPLPLMLLPPMPPAGQAEFGPFPFVIVPSFTFPNV
UniProt ID: P0C7M4
Variant: L -> F at position 176-176
Variant annotation: found in infertile men; uncertain significance; dbSNP:rs3764830
Protein function: Transcription factor maybe involved in reproductive processes. Modulates expression of target genes encoding proteins involved in processes relevant to spermatogenesis.
Reference sequence:
MEPPDQCSQYMTSLLSPAVDDEKELQDMNAMVLSLTEEVKEEEEDAQPEPEQGTAAGEKLKSAGAQGGEEKDGGGEEKDGGGAGVPGHLWEGNLEGTSGSDGNVEDSDQSEKEPGQQYSRPQGAVGGLEPGNAQQPNVHAFTPLQLQELECIFQREQFPSEFLRRRLARSMNVTELAVQIWFENRRAKWRRHQRALMARNMLPFMAVGQPVMVTAAEAITAPLFISGMRDDYFWDHSHSSSLCFPMPPFPPPSLPLPLMLLPPMPPAGQAEFGPFPFVIVPSFTFPNV
UniProt ID: P0C7M4
Variant: G -> R at position 227-227
Variant annotation: found in infertile men; uncertain significance; decreased induction of target genes expression; dbSNP:rs2057153314
Protein function: Transcription factor maybe involved in reproductive processes. Modulates expression of target genes encoding proteins involved in processes relevant to spermatogenesis.
Reference sequence:
MEPPDQCSQYMTSLLSPAVDDEKELQDMNAMVLSLTEEVKEEEEDAQPEPEQGTAAGEKLKSAGAQGGEEKDGGGEEKDGGGAGVPGHLWEGNLEGTSGSDGNVEDSDQSEKEPGQQYSRPQGAVGGLEPGNAQQPNVHAFTPLQLQELECIFQREQFPSEFLRRRLARSMNVTELAVQIWFENRRAKWRRHQRALMARNMLPFMAVGQPVMVTAAEAITAPLFISGMRDDYFWDHSHSSSLCFPMPPFPPPSLPLPLMLLPPMPPAGQAEFGPFPFVIVPSFTFPNV
UniProt ID: P0C7M4
Variant: D -> G at position 235-235
Variant annotation: found in infertile men; uncertain significance; dbSNP:rs782251394
Protein function: Transcription factor maybe involved in reproductive processes. Modulates expression of target genes encoding proteins involved in processes relevant to spermatogenesis.
Reference sequence:
MEPPDQCSQYMTSLLSPAVDDEKELQDMNAMVLSLTEEVKEEEEDAQPEPEQGTAAGEKLKSAGAQGGEEKDGGGEEKDGGGAGVPGHLWEGNLEGTSGSDGNVEDSDQSEKEPGQQYSRPQGAVGGLEPGNAQQPNVHAFTPLQLQELECIFQREQFPSEFLRRRLARSMNVTELAVQIWFENRRAKWRRHQRALMARNMLPFMAVGQPVMVTAAEAITAPLFISGMRDDYFWDHSHSSSLCFPMPPFPPPSLPLPLMLLPPMPPAGQAEFGPFPFVIVPSFTFPNV
UniProt ID: P0C7X2
Variant: S -> I at position 131-131
Variant annotation: in dbSNP:rs33997546
Protein function: May be involved in transcriptional regulation.
Reference sequence:
MAPPPAPLLAPRPGETRPGCRKPGTVSFADVAVYFSPEEWGCLRPAQRALYRDVMQETYGHLGALGFPGPKPALISWMEQESEAWSPAAQDPEKGERLGGARRGDVPNRKEEEPEEVPRAKGPRKAPVKESPEVLVERNPDPAISVAPARAQPPKNAAWDPTTGAQPPAPIPSMDAQAGQRRHVCTDCGRRFTYPSLLVSHRRMHSGERPFPCPECGMRFKRKFAVEAHQWIHRSCSGGRRGRRPGIRAVPRAPVRGDRDPPVLFRHYPDIFEECG
UniProt ID: P0C862
Variant: L -> F at position 6-6
Variant annotation: in dbSNP:rs1974332
Protein function: Probable adipokine. Activates AMPK, AKT, and p44/42 MAPK signaling pathways.
Reference sequence:
MRIWWLLLAIEICTGNINSQDTCRQGHPGIPGNPGHNGLPGRDGRDGAKGDKGDAGEPGRPGSPGKDGTSGEKGERGADGKVEAKGIKGDQGSRGSPGKHGPKGLAGPMGEKGLRGETGPQGQKGNKGDVGPTGPEGPRGNIGPLGPTGLPGPMGPIGKPGPKGEAGPTGPQGEPGVRGIRGWKGDRGEKGKIGETLVLPKSAFTVGLTVLSKFPSSDMPIKFDKILYNEFNHYDTAAGKFTCHIAGVYYFTYHITVFSRNVQVSLVKNGVKILHTKDAYMSSEDQASGGIVLQLKLGDEVWLQVTGGERFNGLFADEDDDTTFTGFLLFSSP
UniProt ID: P0C862
Variant: M -> V at position 219-219
Variant annotation: in dbSNP:rs3751357
Protein function: Probable adipokine. Activates AMPK, AKT, and p44/42 MAPK signaling pathways.
Reference sequence:
MRIWWLLLAIEICTGNINSQDTCRQGHPGIPGNPGHNGLPGRDGRDGAKGDKGDAGEPGRPGSPGKDGTSGEKGERGADGKVEAKGIKGDQGSRGSPGKHGPKGLAGPMGEKGLRGETGPQGQKGNKGDVGPTGPEGPRGNIGPLGPTGLPGPMGPIGKPGPKGEAGPTGPQGEPGVRGIRGWKGDRGEKGKIGETLVLPKSAFTVGLTVLSKFPSSDMPIKFDKILYNEFNHYDTAAGKFTCHIAGVYYFTYHITVFSRNVQVSLVKNGVKILHTKDAYMSSEDQASGGIVLQLKLGDEVWLQVTGGERFNGLFADEDDDTTFTGFLLFSSP
UniProt ID: P0C862
Variant: V -> M at position 301-301
Variant annotation: in dbSNP:rs4589405
Protein function: Probable adipokine. Activates AMPK, AKT, and p44/42 MAPK signaling pathways.
Reference sequence:
MRIWWLLLAIEICTGNINSQDTCRQGHPGIPGNPGHNGLPGRDGRDGAKGDKGDAGEPGRPGSPGKDGTSGEKGERGADGKVEAKGIKGDQGSRGSPGKHGPKGLAGPMGEKGLRGETGPQGQKGNKGDVGPTGPEGPRGNIGPLGPTGLPGPMGPIGKPGPKGEAGPTGPQGEPGVRGIRGWKGDRGEKGKIGETLVLPKSAFTVGLTVLSKFPSSDMPIKFDKILYNEFNHYDTAAGKFTCHIAGVYYFTYHITVFSRNVQVSLVKNGVKILHTKDAYMSSEDQASGGIVLQLKLGDEVWLQVTGGERFNGLFADEDDDTTFTGFLLFSSP
UniProt ID: P0C869
Variant: R -> C at position 191-191
Variant annotation: in dbSNP:rs3816533
Protein function: Calcium-dependent phospholipase A1 and A2 and lysophospholipase. Cleaves the ester bond of the fatty acyl group attached to the sn-1 or sn-2 position of diacyl phospholipids (phospholipase A1 and A2 activity, respectively), producing lysophospholipids that may be used in deacylation-reacylation cycles. Can further hydrolyze lysophospholipids enabling complete deacylation. Has no activity toward alkylacyl phospholipids.
Reference sequence:
MAVAEVSRTCLLTVRVLQAHRLPSKDLVTPSDCYVTLWLPTACSHRLQTRTVKNSSSPVWNQSFHFRIHRQLKNVMELKVFDQDLVTGDDPVLSVLFDAGTLRAGEFRRESFSLSPQGEGRLEVEFRLQSLADRGEWLVSNGVLVARELSCLHVQLEETGDQKSSEHRVQLVVPGSCEGPQEASVGTGTFRFHCPACWEQELSIRLQDAPEEQLKAPLSALPSGQVVRLVFPTSQEPLMRVELKKEAGLRELAVRLGFGPCAEEQAFLSRRKQVVAAALRQALQLDGDLQEDEIPVVAIMATGGGIRAMTSLYGQLAGLKELGLLDCVSYITGASGSTWALANLYEDPEWSQKDLAGPTELLKTQVTKNKLGVLAPSQLQRYRQELAERARLGYPSCFTNLWALINEALLHDEPHDHKLSDQREALSHGQNPLPIYCALNTKGQSLTTFEFGEWCEFSPYEVGFPKYGAFIPSELFGSEFFMGQLMKRLPESRICFLEGIWSNLYAANLQDSLYWASEPSQFWDRWVRNQANLDKEQVPLLKIEEPPSTAGRIAEFFTDLLTWRPLAQATHNFLRGLHFHKDYFQHPHFSTWKATTLDGLPNQLTPSEPHLCLLDVGYLINTSCLPLLQPTRDVDLILSLDYNLHGAFQQLQLLGRFCQEQGIPFPPISPSPEEQLQPRECHTFSDPTCPGAPAVLHFPLVSDSFREYSAPGVRRTPEEAAAGEVNLSSSDSPYHYTKVTYSQEDVDKLLHLTHYNVCNNQEQLLEALRQAVQRRRQRRPH
UniProt ID: P0C869
Variant: M -> I at position 239-239
Variant annotation: in dbSNP:rs2290552
Protein function: Calcium-dependent phospholipase A1 and A2 and lysophospholipase. Cleaves the ester bond of the fatty acyl group attached to the sn-1 or sn-2 position of diacyl phospholipids (phospholipase A1 and A2 activity, respectively), producing lysophospholipids that may be used in deacylation-reacylation cycles. Can further hydrolyze lysophospholipids enabling complete deacylation. Has no activity toward alkylacyl phospholipids.
Reference sequence:
MAVAEVSRTCLLTVRVLQAHRLPSKDLVTPSDCYVTLWLPTACSHRLQTRTVKNSSSPVWNQSFHFRIHRQLKNVMELKVFDQDLVTGDDPVLSVLFDAGTLRAGEFRRESFSLSPQGEGRLEVEFRLQSLADRGEWLVSNGVLVARELSCLHVQLEETGDQKSSEHRVQLVVPGSCEGPQEASVGTGTFRFHCPACWEQELSIRLQDAPEEQLKAPLSALPSGQVVRLVFPTSQEPLMRVELKKEAGLRELAVRLGFGPCAEEQAFLSRRKQVVAAALRQALQLDGDLQEDEIPVVAIMATGGGIRAMTSLYGQLAGLKELGLLDCVSYITGASGSTWALANLYEDPEWSQKDLAGPTELLKTQVTKNKLGVLAPSQLQRYRQELAERARLGYPSCFTNLWALINEALLHDEPHDHKLSDQREALSHGQNPLPIYCALNTKGQSLTTFEFGEWCEFSPYEVGFPKYGAFIPSELFGSEFFMGQLMKRLPESRICFLEGIWSNLYAANLQDSLYWASEPSQFWDRWVRNQANLDKEQVPLLKIEEPPSTAGRIAEFFTDLLTWRPLAQATHNFLRGLHFHKDYFQHPHFSTWKATTLDGLPNQLTPSEPHLCLLDVGYLINTSCLPLLQPTRDVDLILSLDYNLHGAFQQLQLLGRFCQEQGIPFPPISPSPEEQLQPRECHTFSDPTCPGAPAVLHFPLVSDSFREYSAPGVRRTPEEAAAGEVNLSSSDSPYHYTKVTYSQEDVDKLLHLTHYNVCNNQEQLLEALRQAVQRRRQRRPH
UniProt ID: P0C869
Variant: R -> H at position 391-391
Variant annotation: in dbSNP:rs34807597
Protein function: Calcium-dependent phospholipase A1 and A2 and lysophospholipase. Cleaves the ester bond of the fatty acyl group attached to the sn-1 or sn-2 position of diacyl phospholipids (phospholipase A1 and A2 activity, respectively), producing lysophospholipids that may be used in deacylation-reacylation cycles. Can further hydrolyze lysophospholipids enabling complete deacylation. Has no activity toward alkylacyl phospholipids.
Reference sequence:
MAVAEVSRTCLLTVRVLQAHRLPSKDLVTPSDCYVTLWLPTACSHRLQTRTVKNSSSPVWNQSFHFRIHRQLKNVMELKVFDQDLVTGDDPVLSVLFDAGTLRAGEFRRESFSLSPQGEGRLEVEFRLQSLADRGEWLVSNGVLVARELSCLHVQLEETGDQKSSEHRVQLVVPGSCEGPQEASVGTGTFRFHCPACWEQELSIRLQDAPEEQLKAPLSALPSGQVVRLVFPTSQEPLMRVELKKEAGLRELAVRLGFGPCAEEQAFLSRRKQVVAAALRQALQLDGDLQEDEIPVVAIMATGGGIRAMTSLYGQLAGLKELGLLDCVSYITGASGSTWALANLYEDPEWSQKDLAGPTELLKTQVTKNKLGVLAPSQLQRYRQELAERARLGYPSCFTNLWALINEALLHDEPHDHKLSDQREALSHGQNPLPIYCALNTKGQSLTTFEFGEWCEFSPYEVGFPKYGAFIPSELFGSEFFMGQLMKRLPESRICFLEGIWSNLYAANLQDSLYWASEPSQFWDRWVRNQANLDKEQVPLLKIEEPPSTAGRIAEFFTDLLTWRPLAQATHNFLRGLHFHKDYFQHPHFSTWKATTLDGLPNQLTPSEPHLCLLDVGYLINTSCLPLLQPTRDVDLILSLDYNLHGAFQQLQLLGRFCQEQGIPFPPISPSPEEQLQPRECHTFSDPTCPGAPAVLHFPLVSDSFREYSAPGVRRTPEEAAAGEVNLSSSDSPYHYTKVTYSQEDVDKLLHLTHYNVCNNQEQLLEALRQAVQRRRQRRPH
UniProt ID: P0C869
Variant: T -> I at position 591-591
Variant annotation: in dbSNP:rs36126315
Protein function: Calcium-dependent phospholipase A1 and A2 and lysophospholipase. Cleaves the ester bond of the fatty acyl group attached to the sn-1 or sn-2 position of diacyl phospholipids (phospholipase A1 and A2 activity, respectively), producing lysophospholipids that may be used in deacylation-reacylation cycles. Can further hydrolyze lysophospholipids enabling complete deacylation. Has no activity toward alkylacyl phospholipids.
Reference sequence:
MAVAEVSRTCLLTVRVLQAHRLPSKDLVTPSDCYVTLWLPTACSHRLQTRTVKNSSSPVWNQSFHFRIHRQLKNVMELKVFDQDLVTGDDPVLSVLFDAGTLRAGEFRRESFSLSPQGEGRLEVEFRLQSLADRGEWLVSNGVLVARELSCLHVQLEETGDQKSSEHRVQLVVPGSCEGPQEASVGTGTFRFHCPACWEQELSIRLQDAPEEQLKAPLSALPSGQVVRLVFPTSQEPLMRVELKKEAGLRELAVRLGFGPCAEEQAFLSRRKQVVAAALRQALQLDGDLQEDEIPVVAIMATGGGIRAMTSLYGQLAGLKELGLLDCVSYITGASGSTWALANLYEDPEWSQKDLAGPTELLKTQVTKNKLGVLAPSQLQRYRQELAERARLGYPSCFTNLWALINEALLHDEPHDHKLSDQREALSHGQNPLPIYCALNTKGQSLTTFEFGEWCEFSPYEVGFPKYGAFIPSELFGSEFFMGQLMKRLPESRICFLEGIWSNLYAANLQDSLYWASEPSQFWDRWVRNQANLDKEQVPLLKIEEPPSTAGRIAEFFTDLLTWRPLAQATHNFLRGLHFHKDYFQHPHFSTWKATTLDGLPNQLTPSEPHLCLLDVGYLINTSCLPLLQPTRDVDLILSLDYNLHGAFQQLQLLGRFCQEQGIPFPPISPSPEEQLQPRECHTFSDPTCPGAPAVLHFPLVSDSFREYSAPGVRRTPEEAAAGEVNLSSSDSPYHYTKVTYSQEDVDKLLHLTHYNVCNNQEQLLEALRQAVQRRRQRRPH
UniProt ID: P0C870
Variant: A -> G at position 28-28
Variant annotation: in dbSNP:rs7174710
Protein function: Bifunctional enzyme that acts both as an endopeptidase and 2-oxoglutarate-dependent monooxygenase . Endopeptidase that cleaves histones N-terminal tails at the carboxyl side of methylated arginine or lysine residues, to generate 'tailless nucleosomes', which may trigger transcription elongation . Preferentially recognizes and cleaves monomethylated and dimethylated arginine residues of histones H2, H3 and H4 . After initial cleavage, continues to digest histones tails via its aminopeptidase activity . Additionally, may play a role in protein biosynthesis by modifying the translation machinery . Acts as Fe(2+) and 2-oxoglutarate-dependent monooxygenase, catalyzing (S)-stereospecific hydroxylation at C-3 of 'Lys-22' of DRG1 and 'Lys-21' of DRG2 translation factors (TRAFAC), promoting their interaction with ribonucleic acids (RNA) .
Reference sequence:
MAEAALEAVRSELREFPAAARELCVPLAVPYLDKPPTPLHFYRDWVCPNRPCIIRNALQHWPALQKWSLPYFRATVGSTEVSVAVTPDGYADAVRGDRFMMPAERRLPLSFVLDVLEGRAQHPGVLYVQKQCSNLPSELPQLLPDLESHVPWASEALGKMPDAVNFWLGEAAAVTSLHKDHYENLYCVVSGEKHFLFHPPSDRPFIPYELYTPATYQLTEEGTFKVVDEEAMEKVPWIPLDPLAPDLARYPSYSQAQALRCTVRAGEMLYLPALWFHHVQQSQGCIAVNFWYDMEYDLKYSYFQLLDSLTKASGLD
UniProt ID: P0C870
Variant: M -> V at position 160-160
Protein function: Bifunctional enzyme that acts both as an endopeptidase and 2-oxoglutarate-dependent monooxygenase . Endopeptidase that cleaves histones N-terminal tails at the carboxyl side of methylated arginine or lysine residues, to generate 'tailless nucleosomes', which may trigger transcription elongation . Preferentially recognizes and cleaves monomethylated and dimethylated arginine residues of histones H2, H3 and H4 . After initial cleavage, continues to digest histones tails via its aminopeptidase activity . Additionally, may play a role in protein biosynthesis by modifying the translation machinery . Acts as Fe(2+) and 2-oxoglutarate-dependent monooxygenase, catalyzing (S)-stereospecific hydroxylation at C-3 of 'Lys-22' of DRG1 and 'Lys-21' of DRG2 translation factors (TRAFAC), promoting their interaction with ribonucleic acids (RNA) .
Reference sequence:
MAEAALEAVRSELREFPAAARELCVPLAVPYLDKPPTPLHFYRDWVCPNRPCIIRNALQHWPALQKWSLPYFRATVGSTEVSVAVTPDGYADAVRGDRFMMPAERRLPLSFVLDVLEGRAQHPGVLYVQKQCSNLPSELPQLLPDLESHVPWASEALGKMPDAVNFWLGEAAAVTSLHKDHYENLYCVVSGEKHFLFHPPSDRPFIPYELYTPATYQLTEEGTFKVVDEEAMEKVPWIPLDPLAPDLARYPSYSQAQALRCTVRAGEMLYLPALWFHHVQQSQGCIAVNFWYDMEYDLKYSYFQLLDSLTKASGLD
UniProt ID: P0C8I9
Variant: N -> P at position 8-8
Protein function: Thrombin (F2) inhibitor that inhibits aggregation of rabbit platelets induced by alpha-thrombin.
Reference sequence:
DCPSDWSNHEGHCYRVFNEWMNWAD
UniProt ID: P0C8I9
Variant: H -> Y at position 9-9
Protein function: Thrombin (F2) inhibitor that inhibits aggregation of rabbit platelets induced by alpha-thrombin.
Reference sequence:
DCPSDWSNHEGHCYRVFNEWMNWAD
UniProt ID: P0C8I9
Variant: W -> G at position 20-20
Protein function: Thrombin (F2) inhibitor that inhibits aggregation of rabbit platelets induced by alpha-thrombin.
Reference sequence:
DCPSDWSNHEGHCYRVFNEWMNWAD
UniProt ID: P0C8Z1
Variant: I -> M at position 153-153
Variant annotation: in strain: ATCC 35471
Protein function: Catalyzes the oxidative phosphorylation of glyceraldehyde 3-phosphate (G3P) to 1,3-bisphosphoglycerate (BPG) using the cofactor NAD. The first reaction step involves the formation of a hemiacetal intermediate between G3P and a cysteine residue, and this hemiacetal intermediate is then oxidized to a thioester, with concomitant reduction of NAD to NADH. The reduced NADH is then exchanged with the second NAD, and the thioester is attacked by a nucleophilic inorganic phosphate to produce BPG.
Reference sequence:
IVFRAAQKRSDIEIVAINDLLDADYMAYMLKYDSTHGRFDGTVEVKDGHLIVNGKKIRVTAERDPANLKWDEVGVDVVAEATGIFLTDETARKHITAGAKKVVLTGPSKDNTPMFVKGANFDKYAGQDIVSNASCTTNCLAPLAKVINDNFGIIEGLMTTVHATTATQKTVDGPSHKDWRGGRGASQNIIPSSTGAAKAVGKVLPELNGKLTGMAFRVPTPNVSVVDLTVRLEKPATYEQIKAAVKAAAEGEMKGVLGYTEDDVVSTDFNGEVCTSVFDAKAGIALNDNFVKLV
UniProt ID: P0CB38
Variant: V -> I at position 192-192
Variant annotation: in dbSNP:rs10009368
Protein function: May bind RNA.
Reference sequence:
MNVAAKYRMASLYVGDLHADVTEDLLFRKFSTVGPVLSIRICRDQVTRRSLGYAYVNFLQLADAQKALDTMNFDIIKGKSIRLMWSQRDAYLRRSGIGNVFIKNLDKSIDNKTLYEHFSAFGKILSSKVMSDDQGSKGYAFVHFQNQSAADRAIEEMNGKLLKGCKVFVGRFKNRKDREAELRSKASEFTNVYIKNFGGDMDDERLKDVFSKYGKTLSVKVMTDSSGKSKGFGFVSFDSHEAAKKAVEEMNGRDINGQLIFVGRAQKKVERQAELKQMFEQLKRERIRGCQGVKLYIKNLDDTIDDEKLRNEFSSFGSISRVKVMQEEGQSKGFGLICFSSPEDATKAMTEMNGRILGSKPLSIALAQRH
UniProt ID: P0CB38
Variant: S -> N at position 331-331
Variant annotation: in dbSNP:rs6830036
Protein function: May bind RNA.
Reference sequence:
MNVAAKYRMASLYVGDLHADVTEDLLFRKFSTVGPVLSIRICRDQVTRRSLGYAYVNFLQLADAQKALDTMNFDIIKGKSIRLMWSQRDAYLRRSGIGNVFIKNLDKSIDNKTLYEHFSAFGKILSSKVMSDDQGSKGYAFVHFQNQSAADRAIEEMNGKLLKGCKVFVGRFKNRKDREAELRSKASEFTNVYIKNFGGDMDDERLKDVFSKYGKTLSVKVMTDSSGKSKGFGFVSFDSHEAAKKAVEEMNGRDINGQLIFVGRAQKKVERQAELKQMFEQLKRERIRGCQGVKLYIKNLDDTIDDEKLRNEFSSFGSISRVKVMQEEGQSKGFGLICFSSPEDATKAMTEMNGRILGSKPLSIALAQRH
UniProt ID: P0CB38
Variant: H -> P at position 370-370
Variant annotation: in dbSNP:rs11099273
Protein function: May bind RNA.
Reference sequence:
MNVAAKYRMASLYVGDLHADVTEDLLFRKFSTVGPVLSIRICRDQVTRRSLGYAYVNFLQLADAQKALDTMNFDIIKGKSIRLMWSQRDAYLRRSGIGNVFIKNLDKSIDNKTLYEHFSAFGKILSSKVMSDDQGSKGYAFVHFQNQSAADRAIEEMNGKLLKGCKVFVGRFKNRKDREAELRSKASEFTNVYIKNFGGDMDDERLKDVFSKYGKTLSVKVMTDSSGKSKGFGFVSFDSHEAAKKAVEEMNGRDINGQLIFVGRAQKKVERQAELKQMFEQLKRERIRGCQGVKLYIKNLDDTIDDEKLRNEFSSFGSISRVKVMQEEGQSKGFGLICFSSPEDATKAMTEMNGRILGSKPLSIALAQRH
UniProt ID: P0CB52
Variant: K -> T at position 3-3
Variant annotation: in strain: DAT2
Protein function: Converts N-acetylmannosamine-6-phosphate (ManNAc-6-P) to N-acetylglucosamine-6-phosphate (GlcNAc-6-P).
Reference sequence:
MGKISKEALKEQIKDGIIISCQALPGEPLYREEGGIMPLLVKAAQEAGAVGIRANSVRDIKEIKEVTTLPIIGIIKRDYPPQEPFITATMREVDELAALDIEVIALDCTKRERYDGLDIVDFINQIKEKYPEQLFMADISTFEEGLTAYEAGIDFIGTTLSGYTSYSRQEEGPDIELVDRLCRAGIDVIAEGKIHYPDQVKIIHDLGVAGIVVGGAITRPKEIAERFISALHK
UniProt ID: P0CB52
Variant: EA -> TD at position 7-8
Variant annotation: in strain: DAT2
Protein function: Converts N-acetylmannosamine-6-phosphate (ManNAc-6-P) to N-acetylglucosamine-6-phosphate (GlcNAc-6-P).
Reference sequence:
MGKISKEALKEQIKDGIIISCQALPGEPLYREEGGIMPLLVKAAQEAGAVGIRANSVRDIKEIKEVTTLPIIGIIKRDYPPQEPFITATMREVDELAALDIEVIALDCTKRERYDGLDIVDFINQIKEKYPEQLFMADISTFEEGLTAYEAGIDFIGTTLSGYTSYSRQEEGPDIELVDRLCRAGIDVIAEGKIHYPDQVKIIHDLGVAGIVVGGAITRPKEIAERFISALHK
UniProt ID: P0CB52
Variant: A -> V at position 8-8
Variant annotation: in strain: 10581
Protein function: Converts N-acetylmannosamine-6-phosphate (ManNAc-6-P) to N-acetylglucosamine-6-phosphate (GlcNAc-6-P).
Reference sequence:
MGKISKEALKEQIKDGIIISCQALPGEPLYREEGGIMPLLVKAAQEAGAVGIRANSVRDIKEIKEVTTLPIIGIIKRDYPPQEPFITATMREVDELAALDIEVIALDCTKRERYDGLDIVDFINQIKEKYPEQLFMADISTFEEGLTAYEAGIDFIGTTLSGYTSYSRQEEGPDIELVDRLCRAGIDVIAEGKIHYPDQVKIIHDLGVAGIVVGGAITRPKEIAERFISALHK
UniProt ID: P0CB52
Variant: E -> Q at position 11-11
Variant annotation: in strain: DAT2
Protein function: Converts N-acetylmannosamine-6-phosphate (ManNAc-6-P) to N-acetylglucosamine-6-phosphate (GlcNAc-6-P).
Reference sequence:
MGKISKEALKEQIKDGIIISCQALPGEPLYREEGGIMPLLVKAAQEAGAVGIRANSVRDIKEIKEVTTLPIIGIIKRDYPPQEPFITATMREVDELAALDIEVIALDCTKRERYDGLDIVDFINQIKEKYPEQLFMADISTFEEGLTAYEAGIDFIGTTLSGYTSYSRQEEGPDIELVDRLCRAGIDVIAEGKIHYPDQVKIIHDLGVAGIVVGGAITRPKEIAERFISALHK
UniProt ID: P0CB52
Variant: I -> V at position 19-19
Variant annotation: in strain: DAT2
Protein function: Converts N-acetylmannosamine-6-phosphate (ManNAc-6-P) to N-acetylglucosamine-6-phosphate (GlcNAc-6-P).
Reference sequence:
MGKISKEALKEQIKDGIIISCQALPGEPLYREEGGIMPLLVKAAQEAGAVGIRANSVRDIKEIKEVTTLPIIGIIKRDYPPQEPFITATMREVDELAALDIEVIALDCTKRERYDGLDIVDFINQIKEKYPEQLFMADISTFEEGLTAYEAGIDFIGTTLSGYTSYSRQEEGPDIELVDRLCRAGIDVIAEGKIHYPDQVKIIHDLGVAGIVVGGAITRPKEIAERFISALHK
UniProt ID: P0CB52
Variant: N -> K at position 124-124
Variant annotation: in strain: DAT2 and 10581
Protein function: Converts N-acetylmannosamine-6-phosphate (ManNAc-6-P) to N-acetylglucosamine-6-phosphate (GlcNAc-6-P).
Reference sequence:
MGKISKEALKEQIKDGIIISCQALPGEPLYREEGGIMPLLVKAAQEAGAVGIRANSVRDIKEIKEVTTLPIIGIIKRDYPPQEPFITATMREVDELAALDIEVIALDCTKRERYDGLDIVDFINQIKEKYPEQLFMADISTFEEGLTAYEAGIDFIGTTLSGYTSYSRQEEGPDIELVDRLCRAGIDVIAEGKIHYPDQVKIIHDLGVAGIVVGGAITRPKEIAERFISALHK
UniProt ID: P0CB52
Variant: D -> N at position 205-205
Variant annotation: in strain: 10581
Protein function: Converts N-acetylmannosamine-6-phosphate (ManNAc-6-P) to N-acetylglucosamine-6-phosphate (GlcNAc-6-P).
Reference sequence:
MGKISKEALKEQIKDGIIISCQALPGEPLYREEGGIMPLLVKAAQEAGAVGIRANSVRDIKEIKEVTTLPIIGIIKRDYPPQEPFITATMREVDELAALDIEVIALDCTKRERYDGLDIVDFINQIKEKYPEQLFMADISTFEEGLTAYEAGIDFIGTTLSGYTSYSRQEEGPDIELVDRLCRAGIDVIAEGKIHYPDQVKIIHDLGVAGIVVGGAITRPKEIAERFISALHK