sujigwak/NVAR huggingface dataset:
UniProt ID: P12265
Variant: I -> T at position 233-233
Variant annotation: in allele GUS-SA
Protein function: Plays an important role in the degradation of dermatan and keratan sulfates.
Reference sequence:
MSLKWSACWVALGQLLCSCALALKGGMLFPKESPSRELKALDGLWHFRADLSNNRLQGFEQQWYRQPLRESGPVLDMPVPSSFNDITQEAALRDFIGWVWYEREAILPRRWTQDTDMRVVLRINSAHYYAVVWVNGIHVVEHEGGHLPFEADISKLVQSGPLTTCRITIAINNTLTPHTLPPGTIVYKTDTSMYPKGYFVQDTSFDFFNYAGLHRSVVLYTTPTTYIDDITVITNVEQDIGLVTYWISVQGSEHFQLEVQLLDEGGKVVAHGTGNQGQLQVPSANLWWPYLMHEHPAYMYSLEVKVTTTESVTDYYTLPIGIRTVAVTKSKFLINGKPFYFQGVNKHEDSDIRGKGFDWPLLVKDFNLLRWLGANSFRTSHYPYSEEVLQLCDRYGIVVIDECPGVGIVLPQSFGNESLRHHLEVMEELVRRDKNHPAVVMWSVANEPSSALKPAAYYFKTLITHTKALDLTRPVTFVSNAKYDADLGAPYVDVICVNSYFSWYHDYGHLEVIQPQLNSQFENWYKTHQKPIIQSEYGADAIPGIHEDPPRMFSEEYQKAVLENYHSVLDQKRKEYVVGELIWNFADFMTNQSPLRVIGNKKGIFTRQRQPKTSAFILRERYWRIANETGGHGSGPRTQCFGSRPFTF
UniProt ID: P12265
Variant: E -> K at position 428-428
Variant annotation: in allele GUS-SA
Protein function: Plays an important role in the degradation of dermatan and keratan sulfates.
Reference sequence:
MSLKWSACWVALGQLLCSCALALKGGMLFPKESPSRELKALDGLWHFRADLSNNRLQGFEQQWYRQPLRESGPVLDMPVPSSFNDITQEAALRDFIGWVWYEREAILPRRWTQDTDMRVVLRINSAHYYAVVWVNGIHVVEHEGGHLPFEADISKLVQSGPLTTCRITIAINNTLTPHTLPPGTIVYKTDTSMYPKGYFVQDTSFDFFNYAGLHRSVVLYTTPTTYIDDITVITNVEQDIGLVTYWISVQGSEHFQLEVQLLDEGGKVVAHGTGNQGQLQVPSANLWWPYLMHEHPAYMYSLEVKVTTTESVTDYYTLPIGIRTVAVTKSKFLINGKPFYFQGVNKHEDSDIRGKGFDWPLLVKDFNLLRWLGANSFRTSHYPYSEEVLQLCDRYGIVVIDECPGVGIVLPQSFGNESLRHHLEVMEELVRRDKNHPAVVMWSVANEPSSALKPAAYYFKTLITHTKALDLTRPVTFVSNAKYDADLGAPYVDVICVNSYFSWYHDYGHLEVIQPQLNSQFENWYKTHQKPIIQSEYGADAIPGIHEDPPRMFSEEYQKAVLENYHSVLDQKRKEYVVGELIWNFADFMTNQSPLRVIGNKKGIFTRQRQPKTSAFILRERYWRIANETGGHGSGPRTQCFGSRPFTF
UniProt ID: P12265
Variant: F -> L at position 616-616
Variant annotation: in allele GUS-SA
Protein function: Plays an important role in the degradation of dermatan and keratan sulfates.
Reference sequence:
MSLKWSACWVALGQLLCSCALALKGGMLFPKESPSRELKALDGLWHFRADLSNNRLQGFEQQWYRQPLRESGPVLDMPVPSSFNDITQEAALRDFIGWVWYEREAILPRRWTQDTDMRVVLRINSAHYYAVVWVNGIHVVEHEGGHLPFEADISKLVQSGPLTTCRITIAINNTLTPHTLPPGTIVYKTDTSMYPKGYFVQDTSFDFFNYAGLHRSVVLYTTPTTYIDDITVITNVEQDIGLVTYWISVQGSEHFQLEVQLLDEGGKVVAHGTGNQGQLQVPSANLWWPYLMHEHPAYMYSLEVKVTTTESVTDYYTLPIGIRTVAVTKSKFLINGKPFYFQGVNKHEDSDIRGKGFDWPLLVKDFNLLRWLGANSFRTSHYPYSEEVLQLCDRYGIVVIDECPGVGIVLPQSFGNESLRHHLEVMEELVRRDKNHPAVVMWSVANEPSSALKPAAYYFKTLITHTKALDLTRPVTFVSNAKYDADLGAPYVDVICVNSYFSWYHDYGHLEVIQPQLNSQFENWYKTHQKPIIQSEYGADAIPGIHEDPPRMFSEEYQKAVLENYHSVLDQKRKEYVVGELIWNFADFMTNQSPLRVIGNKKGIFTRQRQPKTSAFILRERYWRIANETGGHGSGPRTQCFGSRPFTF
UniProt ID: P12265
Variant: G -> R at position 642-642
Variant annotation: in allele W26; reduced retention in the endoplasmic reticulum
Protein function: Plays an important role in the degradation of dermatan and keratan sulfates.
Reference sequence:
MSLKWSACWVALGQLLCSCALALKGGMLFPKESPSRELKALDGLWHFRADLSNNRLQGFEQQWYRQPLRESGPVLDMPVPSSFNDITQEAALRDFIGWVWYEREAILPRRWTQDTDMRVVLRINSAHYYAVVWVNGIHVVEHEGGHLPFEADISKLVQSGPLTTCRITIAINNTLTPHTLPPGTIVYKTDTSMYPKGYFVQDTSFDFFNYAGLHRSVVLYTTPTTYIDDITVITNVEQDIGLVTYWISVQGSEHFQLEVQLLDEGGKVVAHGTGNQGQLQVPSANLWWPYLMHEHPAYMYSLEVKVTTTESVTDYYTLPIGIRTVAVTKSKFLINGKPFYFQGVNKHEDSDIRGKGFDWPLLVKDFNLLRWLGANSFRTSHYPYSEEVLQLCDRYGIVVIDECPGVGIVLPQSFGNESLRHHLEVMEELVRRDKNHPAVVMWSVANEPSSALKPAAYYFKTLITHTKALDLTRPVTFVSNAKYDADLGAPYVDVICVNSYFSWYHDYGHLEVIQPQLNSQFENWYKTHQKPIIQSEYGADAIPGIHEDPPRMFSEEYQKAVLENYHSVLDQKRKEYVVGELIWNFADFMTNQSPLRVIGNKKGIFTRQRQPKTSAFILRERYWRIANETGGHGSGPRTQCFGSRPFTF
UniProt ID: P12271
Variant: R -> Q at position 151-151
Variant annotation: in RPA; loss of ability to bind 11-cis-retinaldehyde; dbSNP:rs137853290
Effect: loss
Target: ability to bind 11cisretinaldehyde
Protein function: Soluble retinoid carrier essential the proper function of both rod and cone photoreceptors. Participates in the regeneration of active 11-cis-retinol and 11-cis-retinaldehyde, from the inactive 11-trans products of the rhodopsin photocycle and in the de novo synthesis of these retinoids from 11-trans metabolic precursors. The cycling of retinoids between photoreceptor and adjacent pigment epithelium cells is known as the 'visual cycle'.
Reference sequence:
MSEGVGTFRMVPEEEQELRAQLEQLTTKDHGPVFGPCSQLPRHTLQKAKDELNEREETREEAVRELQEMVQAQAASGEELAVAVAERVQEKDSGFFLRFIRARKFNVGRAYELLRGYVNFRLQYPELFDSLSPEAVRCTIEAGYPGVLSSRDKYGRVVMLFNIENWQSQEITFDEILQAYCFILEKLLENEETQINGFCIIENFKGFTMQQAASLRTSDLRKMVDMLQDSFPARFKAIHFIHQPWYFTTTYNVVKPFLKSKLLERVFVHGDDLSGFYQEIDENILPSDFGGTLPKYDGKAVAEQLFGPQAQAENTAF
UniProt ID: P12271
Variant: M -> K at position 226-226
Variant annotation: in RPA; dbSNP:rs137853291
Protein function: Soluble retinoid carrier essential the proper function of both rod and cone photoreceptors. Participates in the regeneration of active 11-cis-retinol and 11-cis-retinaldehyde, from the inactive 11-trans products of the rhodopsin photocycle and in the de novo synthesis of these retinoids from 11-trans metabolic precursors. The cycling of retinoids between photoreceptor and adjacent pigment epithelium cells is known as the 'visual cycle'.
Reference sequence:
MSEGVGTFRMVPEEEQELRAQLEQLTTKDHGPVFGPCSQLPRHTLQKAKDELNEREETREEAVRELQEMVQAQAASGEELAVAVAERVQEKDSGFFLRFIRARKFNVGRAYELLRGYVNFRLQYPELFDSLSPEAVRCTIEAGYPGVLSSRDKYGRVVMLFNIENWQSQEITFDEILQAYCFILEKLLENEETQINGFCIIENFKGFTMQQAASLRTSDLRKMVDMLQDSFPARFKAIHFIHQPWYFTTTYNVVKPFLKSKLLERVFVHGDDLSGFYQEIDENILPSDFGGTLPKYDGKAVAEQLFGPQAQAENTAF
UniProt ID: P12271
Variant: R -> W at position 234-234
Variant annotation: in BRD; dbSNP:rs28933990
Protein function: Soluble retinoid carrier essential the proper function of both rod and cone photoreceptors. Participates in the regeneration of active 11-cis-retinol and 11-cis-retinaldehyde, from the inactive 11-trans products of the rhodopsin photocycle and in the de novo synthesis of these retinoids from 11-trans metabolic precursors. The cycling of retinoids between photoreceptor and adjacent pigment epithelium cells is known as the 'visual cycle'.
Reference sequence:
MSEGVGTFRMVPEEEQELRAQLEQLTTKDHGPVFGPCSQLPRHTLQKAKDELNEREETREEAVRELQEMVQAQAASGEELAVAVAERVQEKDSGFFLRFIRARKFNVGRAYELLRGYVNFRLQYPELFDSLSPEAVRCTIEAGYPGVLSSRDKYGRVVMLFNIENWQSQEITFDEILQAYCFILEKLLENEETQINGFCIIENFKGFTMQQAASLRTSDLRKMVDMLQDSFPARFKAIHFIHQPWYFTTTYNVVKPFLKSKLLERVFVHGDDLSGFYQEIDENILPSDFGGTLPKYDGKAVAEQLFGPQAQAENTAF
UniProt ID: P12272
Variant: L -> P at position 44-44
Variant annotation: in BDE2; dbSNP:rs267606986
Protein function: Osteostatin is a potent inhibitor of osteoclastic bone resorption.
Reference sequence:
MQRRLVQQWSVAVFLLSYAVPSCGRSVEGLSRRLKRAVSEHQLLHDKGKSIQDLRRRFFLHHLIAEIHTAEIRATSEVSPNSKPSPNTKNHPVRFGSDDEGRYLTQETNKVETYKEQPLKTPGKKKKGKPGKRKEQEKKKRRTRSAWLDSGVTGSGLEGDHLSDTSTTSLELDSRRH
UniProt ID: P12272
Variant: L -> P at position 60-60
Variant annotation: in BDE2; dbSNP:rs267606985
Protein function: Osteostatin is a potent inhibitor of osteoclastic bone resorption.
Reference sequence:
MQRRLVQQWSVAVFLLSYAVPSCGRSVEGLSRRLKRAVSEHQLLHDKGKSIQDLRRRFFLHHLIAEIHTAEIRATSEVSPNSKPSPNTKNHPVRFGSDDEGRYLTQETNKVETYKEQPLKTPGKKKKGKPGKRKEQEKKKRRTRSAWLDSGVTGSGLEGDHLSDTSTTSLELDSRRH
UniProt ID: P12272
Variant: S -> T at position 169-169
Variant annotation: in a breast cancer sample; somatic mutation
Protein function: Osteostatin is a potent inhibitor of osteoclastic bone resorption.
Reference sequence:
MQRRLVQQWSVAVFLLSYAVPSCGRSVEGLSRRLKRAVSEHQLLHDKGKSIQDLRRRFFLHHLIAEIHTAEIRATSEVSPNSKPSPNTKNHPVRFGSDDEGRYLTQETNKVETYKEQPLKTPGKKKKGKPGKRKEQEKKKRRTRSAWLDSGVTGSGLEGDHLSDTSTTSLELDSRRH
UniProt ID: P12294
Variant: E -> G at position 36-36
Variant annotation: in strain: D273-10B/A
Protein function: Catalytic component of endonuclease SceI (Endo.SceI), which cleaves specifically at multiple sites on mitochondrial DNA and produces double-stranded breaks.
Reference sequence:
MKKQNLNSILLMYINYIINYFNNIHKNQLKKDWIMEYEYMYKFLMNNMTCFIKWDNNKILLLLDMYYNVLYNYHKQRTPMSNKRLMNSKNIMDYKLLYTYFYILNKMKMEMDNYNNNNNNISLKYNELLKNIMNNLNYKTSNIETNLSNNFYLMDKYLINKYMKYLDMLNMIPNNYMFNNINYKGKLNIKTVLDLNNNEFYDYLSGLIEGDGYIGPGGITITNHANDVLNTIFINKRIKNSILVEKWMDTLKDNPYFVNAFSINIKTNLAKEKIFTNIYNKLYSDYKINQINNHIPYYNYLKINNKLPIKNIMDIKNNYWLAGFTAADGSFLSSMYNPKDTLLFKNMRPSYVISQVETRKELIYLIQESFDLSISNVKKVGNRKLKDFKLFTRTTDELMKFIYYFDKFLPLHDNKQFNYIKFRFNTFIKSYNWNNRVFGLVLSEYINNIKIDNYDYYYYNKYINMHNARKPKGYIK
UniProt ID: P12294
Variant: G -> K at position 217-217
Variant annotation: in strain: D273-10B/A and NCYC 74
Protein function: Catalytic component of endonuclease SceI (Endo.SceI), which cleaves specifically at multiple sites on mitochondrial DNA and produces double-stranded breaks.
Reference sequence:
MKKQNLNSILLMYINYIINYFNNIHKNQLKKDWIMEYEYMYKFLMNNMTCFIKWDNNKILLLLDMYYNVLYNYHKQRTPMSNKRLMNSKNIMDYKLLYTYFYILNKMKMEMDNYNNNNNNISLKYNELLKNIMNNLNYKTSNIETNLSNNFYLMDKYLINKYMKYLDMLNMIPNNYMFNNINYKGKLNIKTVLDLNNNEFYDYLSGLIEGDGYIGPGGITITNHANDVLNTIFINKRIKNSILVEKWMDTLKDNPYFVNAFSINIKTNLAKEKIFTNIYNKLYSDYKINQINNHIPYYNYLKINNKLPIKNIMDIKNNYWLAGFTAADGSFLSSMYNPKDTLLFKNMRPSYVISQVETRKELIYLIQESFDLSISNVKKVGNRKLKDFKLFTRTTDELMKFIYYFDKFLPLHDNKQFNYIKFRFNTFIKSYNWNNRVFGLVLSEYINNIKIDNYDYYYYNKYINMHNARKPKGYIK
UniProt ID: P12294
Variant: N -> D at position 346-346
Variant annotation: in strain: D273-10B/A and NCYC 74
Protein function: Catalytic component of endonuclease SceI (Endo.SceI), which cleaves specifically at multiple sites on mitochondrial DNA and produces double-stranded breaks.
Reference sequence:
MKKQNLNSILLMYINYIINYFNNIHKNQLKKDWIMEYEYMYKFLMNNMTCFIKWDNNKILLLLDMYYNVLYNYHKQRTPMSNKRLMNSKNIMDYKLLYTYFYILNKMKMEMDNYNNNNNNISLKYNELLKNIMNNLNYKTSNIETNLSNNFYLMDKYLINKYMKYLDMLNMIPNNYMFNNINYKGKLNIKTVLDLNNNEFYDYLSGLIEGDGYIGPGGITITNHANDVLNTIFINKRIKNSILVEKWMDTLKDNPYFVNAFSINIKTNLAKEKIFTNIYNKLYSDYKINQINNHIPYYNYLKINNKLPIKNIMDIKNNYWLAGFTAADGSFLSSMYNPKDTLLFKNMRPSYVISQVETRKELIYLIQESFDLSISNVKKVGNRKLKDFKLFTRTTDELMKFIYYFDKFLPLHDNKQFNYIKFRFNTFIKSYNWNNRVFGLVLSEYINNIKIDNYDYYYYNKYINMHNARKPKGYIK
UniProt ID: P12318
Variant: Q -> R at position 63-63
Variant annotation: in dbSNP:rs9427398
Protein function: Binds to the Fc region of immunoglobulins gamma. Low affinity receptor. By binding to IgG it initiates cellular responses against pathogens and soluble antigens. Promotes phagocytosis of opsonized antigens.
Reference sequence:
MTMETQMSQNVCPRNLWLLQPLTVLLLLASADSQAAAPPKAVLKLEPPWINVLQEDSVTLTCQGARSPESDSIQWFHNGNLIPTHTQPSYRFKANNNDSGEYTCQTGQTSLSDPVHLTVLSEWLVLQTPHLEFQEGETIMLRCHSWKDKPLVKVTFFQNGKSQKFSHLDPTFSIPQANHSHSGDYHCTGNIGYTLFSSKPVTITVQVPSMGSSSPMGIIVAVVIATAVAAIVAAVVALIYCRKKRISANSTDPVKAAQFEPPGRQMIAIRKRQLEETNNDYETADGGYMTLNPRAPTDDDKNIYLTLPPNDHVNSNN
UniProt ID: P12318
Variant: M -> V at position 140-140
Variant annotation: in dbSNP:rs4986941
Protein function: Binds to the Fc region of immunoglobulins gamma. Low affinity receptor. By binding to IgG it initiates cellular responses against pathogens and soluble antigens. Promotes phagocytosis of opsonized antigens.
Reference sequence:
MTMETQMSQNVCPRNLWLLQPLTVLLLLASADSQAAAPPKAVLKLEPPWINVLQEDSVTLTCQGARSPESDSIQWFHNGNLIPTHTQPSYRFKANNNDSGEYTCQTGQTSLSDPVHLTVLSEWLVLQTPHLEFQEGETIMLRCHSWKDKPLVKVTFFQNGKSQKFSHLDPTFSIPQANHSHSGDYHCTGNIGYTLFSSKPVTITVQVPSMGSSSPMGIIVAVVIATAVAAIVAAVVALIYCRKKRISANSTDPVKAAQFEPPGRQMIAIRKRQLEETNNDYETADGGYMTLNPRAPTDDDKNIYLTLPPNDHVNSNN
UniProt ID: P12318
Variant: H -> R at position 167-167
Variant annotation: probable risk factor for lupus nephritis; does not efficiently recognize IgG2; dbSNP:rs1801274
Protein function: Binds to the Fc region of immunoglobulins gamma. Low affinity receptor. By binding to IgG it initiates cellular responses against pathogens and soluble antigens. Promotes phagocytosis of opsonized antigens.
Reference sequence:
MTMETQMSQNVCPRNLWLLQPLTVLLLLASADSQAAAPPKAVLKLEPPWINVLQEDSVTLTCQGARSPESDSIQWFHNGNLIPTHTQPSYRFKANNNDSGEYTCQTGQTSLSDPVHLTVLSEWLVLQTPHLEFQEGETIMLRCHSWKDKPLVKVTFFQNGKSQKFSHLDPTFSIPQANHSHSGDYHCTGNIGYTLFSSKPVTITVQVPSMGSSSPMGIIVAVVIATAVAAIVAAVVALIYCRKKRISANSTDPVKAAQFEPPGRQMIAIRKRQLEETNNDYETADGGYMTLNPRAPTDDDKNIYLTLPPNDHVNSNN
UniProt ID: P12318
Variant: I -> V at position 218-218
Variant annotation: in dbSNP:rs17851834
Protein function: Binds to the Fc region of immunoglobulins gamma. Low affinity receptor. By binding to IgG it initiates cellular responses against pathogens and soluble antigens. Promotes phagocytosis of opsonized antigens.
Reference sequence:
MTMETQMSQNVCPRNLWLLQPLTVLLLLASADSQAAAPPKAVLKLEPPWINVLQEDSVTLTCQGARSPESDSIQWFHNGNLIPTHTQPSYRFKANNNDSGEYTCQTGQTSLSDPVHLTVLSEWLVLQTPHLEFQEGETIMLRCHSWKDKPLVKVTFFQNGKSQKFSHLDPTFSIPQANHSHSGDYHCTGNIGYTLFSSKPVTITVQVPSMGSSSPMGIIVAVVIATAVAAIVAAVVALIYCRKKRISANSTDPVKAAQFEPPGRQMIAIRKRQLEETNNDYETADGGYMTLNPRAPTDDDKNIYLTLPPNDHVNSNN
UniProt ID: P12319
Variant: K -> R at position 84-84
Variant annotation: in dbSNP:rs2298804
Protein function: Binds to the Fc region of immunoglobulins epsilon. High affinity receptor. Responsible for initiating the allergic response. Binding of allergen to receptor-bound IgE leads to cell activation and the release of mediators (such as histamine) responsible for the manifestations of allergy. The same receptor also induces the secretion of important lymphokines.
Reference sequence:
MAPAMESPTLLCVALLFFAPDGVLAVPQKPKVSLNPPWNRIFKGENVTLTCNGNNFFEVSSTKWFHNGSLSEETNSSLNIVNAKFEDSGEYKCQHQQVNESEPVYLEVFSDWLLLQASAEVVMEGQPLFLRCHGWRNWDVYKVIYYKDGEALKYWYENHNISITNATVEDSGTYYCTGKVWQLDYESEPLNITVIKAPREKYWLQFFIPLLVVILFAVDTGLFISTQQQVTFLLKIKRTRKGFRLLNPHPKPNPKNN
UniProt ID: P12319
Variant: S -> N at position 101-101
Variant annotation: in dbSNP:rs2298805
Protein function: Binds to the Fc region of immunoglobulins epsilon. High affinity receptor. Responsible for initiating the allergic response. Binding of allergen to receptor-bound IgE leads to cell activation and the release of mediators (such as histamine) responsible for the manifestations of allergy. The same receptor also induces the secretion of important lymphokines.
Reference sequence:
MAPAMESPTLLCVALLFFAPDGVLAVPQKPKVSLNPPWNRIFKGENVTLTCNGNNFFEVSSTKWFHNGSLSEETNSSLNIVNAKFEDSGEYKCQHQQVNESEPVYLEVFSDWLLLQASAEVVMEGQPLFLRCHGWRNWDVYKVIYYKDGEALKYWYENHNISITNATVEDSGTYYCTGKVWQLDYESEPLNITVIKAPREKYWLQFFIPLLVVILFAVDTGLFISTQQQVTFLLKIKRTRKGFRLLNPHPKPNPKNN
UniProt ID: P12356
Variant: G -> D at position 167-167
Protein function: Probably participates in efficiency of electron transfer from plastocyanin to P700 (or cytochrome c553 in algae and cyanobacteria). This plastocyanin-docking protein contributes to the specific association of plastocyanin to PSI.
Reference sequence:
MALTMRNPAVKASSRVAPSSRRALRVACQAQKNETASKVGTALAASALAAAVSLSAPSAAMADIAGLTPCSESKAYAKLEKKELKTLEKRLKQYEADSAPAVALKATMERTKARFANYAKAGLLCGNDGLPHLIADPGLALKYGHAGEVFIPTFGFLYVAGYIGYVGRQYLIAVKGEAKPTDKEIIIDVPLATKLAWQGAGWPLAAVQELQRGTLLEKEENITVSPR
UniProt ID: P12365
Variant: T -> R at position 296-296
Protein function: Occurs in almost all aerobically respiring organisms and serves to protect cells from the toxic effects of hydrogen peroxide.
Reference sequence:
MDPYKHRPSSAFNAPYWTTNSGAPVWNNDSSLTVGARGPILLEDYHCEKLANFDRERIPERVVHARGASAKGFFEVTHDITHLTCADFLRAPGVQTPVIVRFSTVIHERGSPETLRDPRGFAVKFYTREGNWDLVGNNFPVFFIRDGIKFPDMVHALKPNPRTHIQDNWRILDFFSHHPESLHMFSFLFDDVGIPADYRHMDGSGVHTYTLVSRAGTVTYVKFHWRPTCGVRSLMDDEAVRCGANHSHATKDLTDAIAAGNFPEWTLYIQTMDPEMEDRLDDLDPLDVTKTWPEDTFPLQPVGRLVLNRNIDNFFAENEQLAFCPGLIVPGIYYSDDKLLQTRIFSYSDTQRHRLGPNYLLLPANAPKCAHHNNHYDGSMNFMHRHEEVDYFPSRYDAVRNAPRYPIPTAHIAGRREKTVISKENNFKQPGERYRAMDPARQERFITRWVDALSDPRLTHEIRTIWLSNWSQADRSLGQKLASRLSAKPSM
UniProt ID: P12388
Variant: A -> E at position 239-239
Protein function: Inhibits urokinase-type plasminogen activator. The monocyte derived PAI-2 is distinct from the endothelial cell-derived PAI-1. Not required for normal murine development or survival.
Reference sequence:
MEELSMANTMFALNLLKQIEKSNSTQNIFISPWSISSTLAIVLLGAGGNTEQQMAKVLQFNEIGSYGITTRNPENFSGCDFAQQIQKENYPSAILQAQAGDKIHSAFSSLSSTINTPQGDYLLESANKLFGEKSARFKEEYIQLSKKYYSTEPEAVDFLECAEEAREKINSWVKTQTKGEIPNLLPEGSVDEDTKMVLVNAVYFKGKWKTPFEKKLNGLYPFRVNSHESIPVQMMFLHAKLNIGYIKDLKTQILELPHTGNISMLLLLPDEIEDASTGLELLESEINFANFNKWISKDTLDEDDVVVYIPKFKLAQSYELKSILQSMGMEDAFNKGKANFSGMSERNDLFLSEVFHQASVDVTEEGTVAAGGTGAVMTGRTGHGGPQFVADHPFLFFIMDKITHTILFVGRFSSP
UniProt ID: P12388
Variant: H -> Y at position 258-258
Protein function: Inhibits urokinase-type plasminogen activator. The monocyte derived PAI-2 is distinct from the endothelial cell-derived PAI-1. Not required for normal murine development or survival.
Reference sequence:
MEELSMANTMFALNLLKQIEKSNSTQNIFISPWSISSTLAIVLLGAGGNTEQQMAKVLQFNEIGSYGITTRNPENFSGCDFAQQIQKENYPSAILQAQAGDKIHSAFSSLSSTINTPQGDYLLESANKLFGEKSARFKEEYIQLSKKYYSTEPEAVDFLECAEEAREKINSWVKTQTKGEIPNLLPEGSVDEDTKMVLVNAVYFKGKWKTPFEKKLNGLYPFRVNSHESIPVQMMFLHAKLNIGYIKDLKTQILELPHTGNISMLLLLPDEIEDASTGLELLESEINFANFNKWISKDTLDEDDVVVYIPKFKLAQSYELKSILQSMGMEDAFNKGKANFSGMSERNDLFLSEVFHQASVDVTEEGTVAAGGTGAVMTGRTGHGGPQFVADHPFLFFIMDKITHTILFVGRFSSP
UniProt ID: P12388
Variant: T -> I at position 259-259
Protein function: Inhibits urokinase-type plasminogen activator. The monocyte derived PAI-2 is distinct from the endothelial cell-derived PAI-1. Not required for normal murine development or survival.
Reference sequence:
MEELSMANTMFALNLLKQIEKSNSTQNIFISPWSISSTLAIVLLGAGGNTEQQMAKVLQFNEIGSYGITTRNPENFSGCDFAQQIQKENYPSAILQAQAGDKIHSAFSSLSSTINTPQGDYLLESANKLFGEKSARFKEEYIQLSKKYYSTEPEAVDFLECAEEAREKINSWVKTQTKGEIPNLLPEGSVDEDTKMVLVNAVYFKGKWKTPFEKKLNGLYPFRVNSHESIPVQMMFLHAKLNIGYIKDLKTQILELPHTGNISMLLLLPDEIEDASTGLELLESEINFANFNKWISKDTLDEDDVVVYIPKFKLAQSYELKSILQSMGMEDAFNKGKANFSGMSERNDLFLSEVFHQASVDVTEEGTVAAGGTGAVMTGRTGHGGPQFVADHPFLFFIMDKITHTILFVGRFSSP
UniProt ID: P12388
Variant: S -> R at position 284-284
Protein function: Inhibits urokinase-type plasminogen activator. The monocyte derived PAI-2 is distinct from the endothelial cell-derived PAI-1. Not required for normal murine development or survival.
Reference sequence:
MEELSMANTMFALNLLKQIEKSNSTQNIFISPWSISSTLAIVLLGAGGNTEQQMAKVLQFNEIGSYGITTRNPENFSGCDFAQQIQKENYPSAILQAQAGDKIHSAFSSLSSTINTPQGDYLLESANKLFGEKSARFKEEYIQLSKKYYSTEPEAVDFLECAEEAREKINSWVKTQTKGEIPNLLPEGSVDEDTKMVLVNAVYFKGKWKTPFEKKLNGLYPFRVNSHESIPVQMMFLHAKLNIGYIKDLKTQILELPHTGNISMLLLLPDEIEDASTGLELLESEINFANFNKWISKDTLDEDDVVVYIPKFKLAQSYELKSILQSMGMEDAFNKGKANFSGMSERNDLFLSEVFHQASVDVTEEGTVAAGGTGAVMTGRTGHGGPQFVADHPFLFFIMDKITHTILFVGRFSSP
UniProt ID: P12425
Variant: E -> V at position 10-10
Variant annotation: in strain: PCI 219
Protein function: Glutamine synthetase (GS) is an unusual multitasking protein that functions as an enzyme, a transcription coregulator, and a chaperone in ammonium assimilation and in the regulation of genes involved in nitrogen metabolism . It catalyzes the ATP-dependent biosynthesis of glutamine from glutamate and ammonia . Feedback-inhibited GlnA interacts with and regulates the activity of the transcriptional regulator TnrA . During nitrogen limitation, TnrA is in its DNA-binding active state and turns on the transcription of genes required for nitrogen assimilation . Under conditions of nitrogen excess, feedback-inhibited GlnA forms a stable complex with TnrA, which inhibits its DNA-binding activity . In contrast, feedback-inhibited GlnA acts as a chaperone to stabilize the DNA-binding activity of GlnR, which represses the transcription of nitrogen assimilation genes .
Reference sequence:
MAKYTREDIEKLVKEENVKYIRLQFTDILGTIKNVEIPVSQLGKALDNKVMFDGSSIEGFVRIEESDMYLYPDLNTFVIFPWTAEKGKVARFICDIYNPDGTPFEGDPRNNLKRILKEMEDLGFSDFNLGPEPEFFLFKLDEKGEPTLELNDKGGYFDLAPTDLGENCRRDIVLELEEMGFEIEASHHEVAPGQHEIDFKYAGAVRSCDDIQTFKLVVKTIARKHGLHATFMPKPLFGVNGSGMHCNLSLFKNGVNAFFDENADLQLSETAKHFIAGIVKHATSFTAVTNPTVNSYKRLVPGYEAPCYVAWSAQNRSPLIRIPASRGISTRVEVRSVDPAANPYLALSVLLAAGLDGIKNKLEAPAPIDRNIYVMSKEERMENGIVDLPATLAEALEEFKSNEVMVKALGEHLFEHFIEAKEIEWDMFRTQVHPWEREQYMSQY
UniProt ID: P12425
Variant: G -> E at position 43-43
Variant annotation: in strain: PCI 219
Protein function: Glutamine synthetase (GS) is an unusual multitasking protein that functions as an enzyme, a transcription coregulator, and a chaperone in ammonium assimilation and in the regulation of genes involved in nitrogen metabolism . It catalyzes the ATP-dependent biosynthesis of glutamine from glutamate and ammonia . Feedback-inhibited GlnA interacts with and regulates the activity of the transcriptional regulator TnrA . During nitrogen limitation, TnrA is in its DNA-binding active state and turns on the transcription of genes required for nitrogen assimilation . Under conditions of nitrogen excess, feedback-inhibited GlnA forms a stable complex with TnrA, which inhibits its DNA-binding activity . In contrast, feedback-inhibited GlnA acts as a chaperone to stabilize the DNA-binding activity of GlnR, which represses the transcription of nitrogen assimilation genes .
Reference sequence:
MAKYTREDIEKLVKEENVKYIRLQFTDILGTIKNVEIPVSQLGKALDNKVMFDGSSIEGFVRIEESDMYLYPDLNTFVIFPWTAEKGKVARFICDIYNPDGTPFEGDPRNNLKRILKEMEDLGFSDFNLGPEPEFFLFKLDEKGEPTLELNDKGGYFDLAPTDLGENCRRDIVLELEEMGFEIEASHHEVAPGQHEIDFKYAGAVRSCDDIQTFKLVVKTIARKHGLHATFMPKPLFGVNGSGMHCNLSLFKNGVNAFFDENADLQLSETAKHFIAGIVKHATSFTAVTNPTVNSYKRLVPGYEAPCYVAWSAQNRSPLIRIPASRGISTRVEVRSVDPAANPYLALSVLLAAGLDGIKNKLEAPAPIDRNIYVMSKEERMENGIVDLPATLAEALEEFKSNEVMVKALGEHLFEHFIEAKEIEWDMFRTQVHPWEREQYMSQY
UniProt ID: P12425
Variant: N -> D at position 253-253
Variant annotation: in strain: PCI 219
Protein function: Glutamine synthetase (GS) is an unusual multitasking protein that functions as an enzyme, a transcription coregulator, and a chaperone in ammonium assimilation and in the regulation of genes involved in nitrogen metabolism . It catalyzes the ATP-dependent biosynthesis of glutamine from glutamate and ammonia . Feedback-inhibited GlnA interacts with and regulates the activity of the transcriptional regulator TnrA . During nitrogen limitation, TnrA is in its DNA-binding active state and turns on the transcription of genes required for nitrogen assimilation . Under conditions of nitrogen excess, feedback-inhibited GlnA forms a stable complex with TnrA, which inhibits its DNA-binding activity . In contrast, feedback-inhibited GlnA acts as a chaperone to stabilize the DNA-binding activity of GlnR, which represses the transcription of nitrogen assimilation genes .
Reference sequence:
MAKYTREDIEKLVKEENVKYIRLQFTDILGTIKNVEIPVSQLGKALDNKVMFDGSSIEGFVRIEESDMYLYPDLNTFVIFPWTAEKGKVARFICDIYNPDGTPFEGDPRNNLKRILKEMEDLGFSDFNLGPEPEFFLFKLDEKGEPTLELNDKGGYFDLAPTDLGENCRRDIVLELEEMGFEIEASHHEVAPGQHEIDFKYAGAVRSCDDIQTFKLVVKTIARKHGLHATFMPKPLFGVNGSGMHCNLSLFKNGVNAFFDENADLQLSETAKHFIAGIVKHATSFTAVTNPTVNSYKRLVPGYEAPCYVAWSAQNRSPLIRIPASRGISTRVEVRSVDPAANPYLALSVLLAAGLDGIKNKLEAPAPIDRNIYVMSKEERMENGIVDLPATLAEALEEFKSNEVMVKALGEHLFEHFIEAKEIEWDMFRTQVHPWEREQYMSQY
UniProt ID: P12425
Variant: F -> Y at position 259-259
Variant annotation: in strain: PCI 219
Protein function: Glutamine synthetase (GS) is an unusual multitasking protein that functions as an enzyme, a transcription coregulator, and a chaperone in ammonium assimilation and in the regulation of genes involved in nitrogen metabolism . It catalyzes the ATP-dependent biosynthesis of glutamine from glutamate and ammonia . Feedback-inhibited GlnA interacts with and regulates the activity of the transcriptional regulator TnrA . During nitrogen limitation, TnrA is in its DNA-binding active state and turns on the transcription of genes required for nitrogen assimilation . Under conditions of nitrogen excess, feedback-inhibited GlnA forms a stable complex with TnrA, which inhibits its DNA-binding activity . In contrast, feedback-inhibited GlnA acts as a chaperone to stabilize the DNA-binding activity of GlnR, which represses the transcription of nitrogen assimilation genes .
Reference sequence:
MAKYTREDIEKLVKEENVKYIRLQFTDILGTIKNVEIPVSQLGKALDNKVMFDGSSIEGFVRIEESDMYLYPDLNTFVIFPWTAEKGKVARFICDIYNPDGTPFEGDPRNNLKRILKEMEDLGFSDFNLGPEPEFFLFKLDEKGEPTLELNDKGGYFDLAPTDLGENCRRDIVLELEEMGFEIEASHHEVAPGQHEIDFKYAGAVRSCDDIQTFKLVVKTIARKHGLHATFMPKPLFGVNGSGMHCNLSLFKNGVNAFFDENADLQLSETAKHFIAGIVKHATSFTAVTNPTVNSYKRLVPGYEAPCYVAWSAQNRSPLIRIPASRGISTRVEVRSVDPAANPYLALSVLLAAGLDGIKNKLEAPAPIDRNIYVMSKEERMENGIVDLPATLAEALEEFKSNEVMVKALGEHLFEHFIEAKEIEWDMFRTQVHPWEREQYMSQY
UniProt ID: P12429
Variant: S -> N at position 19-19
Variant annotation: in dbSNP:rs5951
Protein function: Inhibitor of phospholipase A2, also possesses anti-coagulant properties. Also cleaves the cyclic bond of inositol 1,2-cyclic phosphate to form inositol 1-phosphate.
Reference sequence:
MASIWVGHRGTVRDYPDFSPSVDAEAIQKAIRGIGTDEKMLISILTERSNAQRQLIVKEYQAAYGKELKDDLKGDLSGHFEHLMVALVTPPAVFDAKQLKKSMKGAGTNEDALIEILTTRTSRQMKDISQAYYTVYKKSLGDDISSETSGDFRKALLTLADGRRDESLKVDEHLAKQDAQILYKAGENRWGTDEDKFTEILCLRSFPQLKLTFDEYRNISQKDIVDSIKGELSGHFEDLLLAIVNCVRNTPAFLAERLHRALKGIGTDEFTLNRIMVSRSEIDLLDIRTEFKKHYGYSLYSAIKSDTSGDYEITLLKICGGDD