sujigwak/NVAR huggingface dataset:
UniProt ID: P48214
Variant: I -> T at position 205-205
Variant annotation: in strain: Danny/horse/Oregon
Protein function: Together with its co-chaperonin GroES, plays an essential role in assisting protein folding. The GroEL-GroES system forms a nano-cage that allows encapsulation of the non-native substrate proteins and provides a physical environment optimized to promote and accelerate protein folding.
Reference sequence:
MANEVISGEQLQKVIRDAADLVVSSAGVTLGPEGRPVIMSKSYGGPEVTKDGYKVINNLKPEDEKIAKIVELLNQATSQANEKAGDGTTTATILVGNMIKNAHKHIAAQRSRTKLKSGMKRARDEVVKYIQSVAKKINSEEEIAQVGSISANGNSEIGNKIAEAMNKVGKEGVITVEEGKGLDEFSVSVVQGMVFDRGYVSPYFITNPEKMIVEFDNPYVLLANKKLSSIQPMVPLLETIVRSNRAVVIIAEDVEGEALTSLVLSKMRGSLKACAVKAPGFGDRRSEMLEDIRILTGAKTLVSDDLGVTVESLTVEDLGTAKSIIISKDSTTIVDGGGEKTSIDARVKQIKTQIDKTTSDYDKEKLQERLAKLAGGVAVLKVGGATEVEVKERKDRVEDALHATRAAVEEGIVPGGGATLLSAIAVLEKLSSDDDDEQAGINIVKSALKAPISQIVENAGEDASVITYNLLESKDPNRIFDARELKYVDAFKAGIIDPAKVVRVALESAVSVASVLVTTEALIVDLPTKDNGSPSMMPGGGMGGMGGF
UniProt ID: P48214
Variant: E -> G at position 209-209
Variant annotation: in strain: Thorenberg/horse/Oregon
Protein function: Together with its co-chaperonin GroES, plays an essential role in assisting protein folding. The GroEL-GroES system forms a nano-cage that allows encapsulation of the non-native substrate proteins and provides a physical environment optimized to promote and accelerate protein folding.
Reference sequence:
MANEVISGEQLQKVIRDAADLVVSSAGVTLGPEGRPVIMSKSYGGPEVTKDGYKVINNLKPEDEKIAKIVELLNQATSQANEKAGDGTTTATILVGNMIKNAHKHIAAQRSRTKLKSGMKRARDEVVKYIQSVAKKINSEEEIAQVGSISANGNSEIGNKIAEAMNKVGKEGVITVEEGKGLDEFSVSVVQGMVFDRGYVSPYFITNPEKMIVEFDNPYVLLANKKLSSIQPMVPLLETIVRSNRAVVIIAEDVEGEALTSLVLSKMRGSLKACAVKAPGFGDRRSEMLEDIRILTGAKTLVSDDLGVTVESLTVEDLGTAKSIIISKDSTTIVDGGGEKTSIDARVKQIKTQIDKTTSDYDKEKLQERLAKLAGGVAVLKVGGATEVEVKERKDRVEDALHATRAAVEEGIVPGGGATLLSAIAVLEKLSSDDDDEQAGINIVKSALKAPISQIVENAGEDASVITYNLLESKDPNRIFDARELKYVDAFKAGIIDPAKVVRVALESAVSVASVLVTTEALIVDLPTKDNGSPSMMPGGGMGGMGGF
UniProt ID: P48214
Variant: P -> S at position 235-235
Variant annotation: in strain: Stagnicola/snail/Oregon
Protein function: Together with its co-chaperonin GroES, plays an essential role in assisting protein folding. The GroEL-GroES system forms a nano-cage that allows encapsulation of the non-native substrate proteins and provides a physical environment optimized to promote and accelerate protein folding.
Reference sequence:
MANEVISGEQLQKVIRDAADLVVSSAGVTLGPEGRPVIMSKSYGGPEVTKDGYKVINNLKPEDEKIAKIVELLNQATSQANEKAGDGTTTATILVGNMIKNAHKHIAAQRSRTKLKSGMKRARDEVVKYIQSVAKKINSEEEIAQVGSISANGNSEIGNKIAEAMNKVGKEGVITVEEGKGLDEFSVSVVQGMVFDRGYVSPYFITNPEKMIVEFDNPYVLLANKKLSSIQPMVPLLETIVRSNRAVVIIAEDVEGEALTSLVLSKMRGSLKACAVKAPGFGDRRSEMLEDIRILTGAKTLVSDDLGVTVESLTVEDLGTAKSIIISKDSTTIVDGGGEKTSIDARVKQIKTQIDKTTSDYDKEKLQERLAKLAGGVAVLKVGGATEVEVKERKDRVEDALHATRAAVEEGIVPGGGATLLSAIAVLEKLSSDDDDEQAGINIVKSALKAPISQIVENAGEDASVITYNLLESKDPNRIFDARELKYVDAFKAGIIDPAKVVRVALESAVSVASVLVTTEALIVDLPTKDNGSPSMMPGGGMGGMGGF
UniProt ID: P48214
Variant: K -> N at position 277-277
Variant annotation: in strain: Drpepper/horse/California
Protein function: Together with its co-chaperonin GroES, plays an essential role in assisting protein folding. The GroEL-GroES system forms a nano-cage that allows encapsulation of the non-native substrate proteins and provides a physical environment optimized to promote and accelerate protein folding.
Reference sequence:
MANEVISGEQLQKVIRDAADLVVSSAGVTLGPEGRPVIMSKSYGGPEVTKDGYKVINNLKPEDEKIAKIVELLNQATSQANEKAGDGTTTATILVGNMIKNAHKHIAAQRSRTKLKSGMKRARDEVVKYIQSVAKKINSEEEIAQVGSISANGNSEIGNKIAEAMNKVGKEGVITVEEGKGLDEFSVSVVQGMVFDRGYVSPYFITNPEKMIVEFDNPYVLLANKKLSSIQPMVPLLETIVRSNRAVVIIAEDVEGEALTSLVLSKMRGSLKACAVKAPGFGDRRSEMLEDIRILTGAKTLVSDDLGVTVESLTVEDLGTAKSIIISKDSTTIVDGGGEKTSIDARVKQIKTQIDKTTSDYDKEKLQERLAKLAGGVAVLKVGGATEVEVKERKDRVEDALHATRAAVEEGIVPGGGATLLSAIAVLEKLSSDDDDEQAGINIVKSALKAPISQIVENAGEDASVITYNLLESKDPNRIFDARELKYVDAFKAGIIDPAKVVRVALESAVSVASVLVTTEALIVDLPTKDNGSPSMMPGGGMGGMGGF
UniProt ID: P48214
Variant: K -> R at position 299-299
Variant annotation: in strain: Stagnicola/snail/Oregon
Protein function: Together with its co-chaperonin GroES, plays an essential role in assisting protein folding. The GroEL-GroES system forms a nano-cage that allows encapsulation of the non-native substrate proteins and provides a physical environment optimized to promote and accelerate protein folding.
Reference sequence:
MANEVISGEQLQKVIRDAADLVVSSAGVTLGPEGRPVIMSKSYGGPEVTKDGYKVINNLKPEDEKIAKIVELLNQATSQANEKAGDGTTTATILVGNMIKNAHKHIAAQRSRTKLKSGMKRARDEVVKYIQSVAKKINSEEEIAQVGSISANGNSEIGNKIAEAMNKVGKEGVITVEEGKGLDEFSVSVVQGMVFDRGYVSPYFITNPEKMIVEFDNPYVLLANKKLSSIQPMVPLLETIVRSNRAVVIIAEDVEGEALTSLVLSKMRGSLKACAVKAPGFGDRRSEMLEDIRILTGAKTLVSDDLGVTVESLTVEDLGTAKSIIISKDSTTIVDGGGEKTSIDARVKQIKTQIDKTTSDYDKEKLQERLAKLAGGVAVLKVGGATEVEVKERKDRVEDALHATRAAVEEGIVPGGGATLLSAIAVLEKLSSDDDDEQAGINIVKSALKAPISQIVENAGEDASVITYNLLESKDPNRIFDARELKYVDAFKAGIIDPAKVVRVALESAVSVASVLVTTEALIVDLPTKDNGSPSMMPGGGMGGMGGF
UniProt ID: P48219
Variant: A -> P at position 2-2
Variant annotation: in strain: WA / Serotype O:8
Protein function: Together with its co-chaperonin GroES, plays an essential role in assisting protein folding. The GroEL-GroES system forms a nano-cage that allows encapsulation of the non-native substrate proteins and provides a physical environment optimized to promote and accelerate protein folding.
Reference sequence:
MAAKDVKFGNDARIKMLRGVNILADAVKVTLGPKGRNVVLDKSFGSPTITKDGVSVAREIELEDKFENMGAQMVKEVASKANDAAGDGTTTATVLAQSIITEGLKAVAAGMNPMDLKRGIDKAVIAAVEELKKLSVPCSDSKAIAQVGTISANSDSTVGELIAQAMEKVGKEGVITVEEGSGLQDELDVVEGMQFDRGYLSPYFINKPETGSIELESPFILLADKKISNIREMLPVLEAVAKAGKPLLIIAEDVEGEALATLVVNTMRGIVKVAAVKAPGFGDRRKAMLQDIATLTAGTVISEEIGLELEKTTLEDLGQAKRVVINKDTTIIIDGVGDEAAIQGRVAQIRQQIEEATSDYDKEKLQERVAKLAGGVAVIKVGAATEVEMKEKKARVEDALHATRAAVEEGVVAGGGVALIRAASAITAAGLKGDNEDQNVGIKVALRAMESPLRQIVVNAGEEASVIANNVKAGSGSYGYNAYSEEYGDMIAMGILDPTKVTRSALQYAASIAGLMITTECMITDLPRDDKGADMGAGGMGGMGGMGGMM
UniProt ID: P48219
Variant: E -> D at position 355-355
Variant annotation: in strain: WA / Serotype O:8
Protein function: Together with its co-chaperonin GroES, plays an essential role in assisting protein folding. The GroEL-GroES system forms a nano-cage that allows encapsulation of the non-native substrate proteins and provides a physical environment optimized to promote and accelerate protein folding.
Reference sequence:
MAAKDVKFGNDARIKMLRGVNILADAVKVTLGPKGRNVVLDKSFGSPTITKDGVSVAREIELEDKFENMGAQMVKEVASKANDAAGDGTTTATVLAQSIITEGLKAVAAGMNPMDLKRGIDKAVIAAVEELKKLSVPCSDSKAIAQVGTISANSDSTVGELIAQAMEKVGKEGVITVEEGSGLQDELDVVEGMQFDRGYLSPYFINKPETGSIELESPFILLADKKISNIREMLPVLEAVAKAGKPLLIIAEDVEGEALATLVVNTMRGIVKVAAVKAPGFGDRRKAMLQDIATLTAGTVISEEIGLELEKTTLEDLGQAKRVVINKDTTIIIDGVGDEAAIQGRVAQIRQQIEEATSDYDKEKLQERVAKLAGGVAVIKVGAATEVEMKEKKARVEDALHATRAAVEEGVVAGGGVALIRAASAITAAGLKGDNEDQNVGIKVALRAMESPLRQIVVNAGEEASVIANNVKAGSGSYGYNAYSEEYGDMIAMGILDPTKVTRSALQYAASIAGLMITTECMITDLPRDDKGADMGAGGMGGMGGMGGMM
UniProt ID: P48231
Variant: DQI -> EQV at position 11-13
Variant annotation: in strain: SK1
Protein function: May play a role in membrane trafficking.
Reference sequence:
MSPNSSKTRTDQISSMPGINEATKVESKNVVKDAVPIKSEVETNGTSIVREKQDPSYVGWKQVGGWEEKDELTSEDLLVDVNKDTFLGNLLPDKFYGDWYHEVAILIIAGLCSFVLGYFKFSLASVLIVMLTTGMLYRTSSKKYRESLRDLAQKEQTVEKITSDYESVEWLNTFLDKYWPIIEPSVSQQIVDGTNTALSENVAIPKFIKAIWLDQFTLGVKPPRIDAIKTFQNTKSDVVVMDVCLSFTPHDMSDLDAKQCRNYVNSNVVLKAKIFGMDIPVSVADIFFQVFVRFRFQLMTTLPLVETINIQLLEVPEVDFISRLLGNSVFNWEILAIPGLMRLIQKMAFKYLSPVLLPPFSLQLNIPQLLSKTGLPIGVLEIKVKNAHGLRKLVGMIKKTVDPYLTFELSGKIVGKTKVFKNSANPVWNESIYILLQSFTDPLTIAVYDKRETLSDKKMGTVIFNLNKLHANHYHKNEKVHFLRNSKPVGELTFDLRFFPTIEPKKLLNGDEEPLPDMNTGITKITIRELKGLDELSDKKFVFAELYVNAELVMTTKKEKRTAHLKWNSDYYSVVTDRRKTICRFVLKDQSGKVISSSVQPLNHLIDRTEVNKEWIPLRNGKGELKVTTYWRPVDIDLGLKSVGYTTPIGMLRVFINKAENLRNPDSLGKISPYAKVSVNGVARGRTNERIETLNPIWNQSIYVSVTSPLQKVSIDCFGIDTNGDDHNLGSLNIQTQNIYHKDNDDKYTIFIDNAPRTGNLIGKKGVKGTVTYYLSFYPVVPVLSLEEAKEVDEINEKKDKLEKQKSTLDDKNISKEEKERIKKEEFRLTEKYDMYSYKMKLDLDELLQYNAGVLGVTVLGGELPQPGLYVQTFFDSCGYAAITSAKNAIRTIKTGWSGDFMIKELEWSVTTFRVTKTKDANKAENFICEVNIPTIELVRNCYYKPSVLNLIGKKSAKLLVQVSWFPVTATELPQSDLITNSGDLKITAKSAENLIGVNKNGYSDPYVEFFLNEKSTSPFFKTAVQKKTLNPTWNESKTIEVSNRVNDYLTINVKDYESTNSNRSIGKAVVPLSTIDPESDTTFNIPLVGPKGEDGGVLHLEFEFEPRYTTNVVKREAGLGNFATKGLGTGIKAGSTVFALGTNVVSTGLGTIDKVKAGVFGGKKSTTTGDKKSEEKQ
UniProt ID: P48231
Variant: F -> S at position 121-121
Variant annotation: in strain: SK1
Protein function: May play a role in membrane trafficking.
Reference sequence:
MSPNSSKTRTDQISSMPGINEATKVESKNVVKDAVPIKSEVETNGTSIVREKQDPSYVGWKQVGGWEEKDELTSEDLLVDVNKDTFLGNLLPDKFYGDWYHEVAILIIAGLCSFVLGYFKFSLASVLIVMLTTGMLYRTSSKKYRESLRDLAQKEQTVEKITSDYESVEWLNTFLDKYWPIIEPSVSQQIVDGTNTALSENVAIPKFIKAIWLDQFTLGVKPPRIDAIKTFQNTKSDVVVMDVCLSFTPHDMSDLDAKQCRNYVNSNVVLKAKIFGMDIPVSVADIFFQVFVRFRFQLMTTLPLVETINIQLLEVPEVDFISRLLGNSVFNWEILAIPGLMRLIQKMAFKYLSPVLLPPFSLQLNIPQLLSKTGLPIGVLEIKVKNAHGLRKLVGMIKKTVDPYLTFELSGKIVGKTKVFKNSANPVWNESIYILLQSFTDPLTIAVYDKRETLSDKKMGTVIFNLNKLHANHYHKNEKVHFLRNSKPVGELTFDLRFFPTIEPKKLLNGDEEPLPDMNTGITKITIRELKGLDELSDKKFVFAELYVNAELVMTTKKEKRTAHLKWNSDYYSVVTDRRKTICRFVLKDQSGKVISSSVQPLNHLIDRTEVNKEWIPLRNGKGELKVTTYWRPVDIDLGLKSVGYTTPIGMLRVFINKAENLRNPDSLGKISPYAKVSVNGVARGRTNERIETLNPIWNQSIYVSVTSPLQKVSIDCFGIDTNGDDHNLGSLNIQTQNIYHKDNDDKYTIFIDNAPRTGNLIGKKGVKGTVTYYLSFYPVVPVLSLEEAKEVDEINEKKDKLEKQKSTLDDKNISKEEKERIKKEEFRLTEKYDMYSYKMKLDLDELLQYNAGVLGVTVLGGELPQPGLYVQTFFDSCGYAAITSAKNAIRTIKTGWSGDFMIKELEWSVTTFRVTKTKDANKAENFICEVNIPTIELVRNCYYKPSVLNLIGKKSAKLLVQVSWFPVTATELPQSDLITNSGDLKITAKSAENLIGVNKNGYSDPYVEFFLNEKSTSPFFKTAVQKKTLNPTWNESKTIEVSNRVNDYLTINVKDYESTNSNRSIGKAVVPLSTIDPESDTTFNIPLVGPKGEDGGVLHLEFEFEPRYTTNVVKREAGLGNFATKGLGTGIKAGSTVFALGTNVVSTGLGTIDKVKAGVFGGKKSTTTGDKKSEEKQ
UniProt ID: P48231
Variant: R -> G at position 528-528
Variant annotation: in strain: SK1
Protein function: May play a role in membrane trafficking.
Reference sequence:
MSPNSSKTRTDQISSMPGINEATKVESKNVVKDAVPIKSEVETNGTSIVREKQDPSYVGWKQVGGWEEKDELTSEDLLVDVNKDTFLGNLLPDKFYGDWYHEVAILIIAGLCSFVLGYFKFSLASVLIVMLTTGMLYRTSSKKYRESLRDLAQKEQTVEKITSDYESVEWLNTFLDKYWPIIEPSVSQQIVDGTNTALSENVAIPKFIKAIWLDQFTLGVKPPRIDAIKTFQNTKSDVVVMDVCLSFTPHDMSDLDAKQCRNYVNSNVVLKAKIFGMDIPVSVADIFFQVFVRFRFQLMTTLPLVETINIQLLEVPEVDFISRLLGNSVFNWEILAIPGLMRLIQKMAFKYLSPVLLPPFSLQLNIPQLLSKTGLPIGVLEIKVKNAHGLRKLVGMIKKTVDPYLTFELSGKIVGKTKVFKNSANPVWNESIYILLQSFTDPLTIAVYDKRETLSDKKMGTVIFNLNKLHANHYHKNEKVHFLRNSKPVGELTFDLRFFPTIEPKKLLNGDEEPLPDMNTGITKITIRELKGLDELSDKKFVFAELYVNAELVMTTKKEKRTAHLKWNSDYYSVVTDRRKTICRFVLKDQSGKVISSSVQPLNHLIDRTEVNKEWIPLRNGKGELKVTTYWRPVDIDLGLKSVGYTTPIGMLRVFINKAENLRNPDSLGKISPYAKVSVNGVARGRTNERIETLNPIWNQSIYVSVTSPLQKVSIDCFGIDTNGDDHNLGSLNIQTQNIYHKDNDDKYTIFIDNAPRTGNLIGKKGVKGTVTYYLSFYPVVPVLSLEEAKEVDEINEKKDKLEKQKSTLDDKNISKEEKERIKKEEFRLTEKYDMYSYKMKLDLDELLQYNAGVLGVTVLGGELPQPGLYVQTFFDSCGYAAITSAKNAIRTIKTGWSGDFMIKELEWSVTTFRVTKTKDANKAENFICEVNIPTIELVRNCYYKPSVLNLIGKKSAKLLVQVSWFPVTATELPQSDLITNSGDLKITAKSAENLIGVNKNGYSDPYVEFFLNEKSTSPFFKTAVQKKTLNPTWNESKTIEVSNRVNDYLTINVKDYESTNSNRSIGKAVVPLSTIDPESDTTFNIPLVGPKGEDGGVLHLEFEFEPRYTTNVVKREAGLGNFATKGLGTGIKAGSTVFALGTNVVSTGLGTIDKVKAGVFGGKKSTTTGDKKSEEKQ
UniProt ID: P48231
Variant: IE -> MK at position 691-692
Variant annotation: in strain: SK1
Protein function: May play a role in membrane trafficking.
Reference sequence:
MSPNSSKTRTDQISSMPGINEATKVESKNVVKDAVPIKSEVETNGTSIVREKQDPSYVGWKQVGGWEEKDELTSEDLLVDVNKDTFLGNLLPDKFYGDWYHEVAILIIAGLCSFVLGYFKFSLASVLIVMLTTGMLYRTSSKKYRESLRDLAQKEQTVEKITSDYESVEWLNTFLDKYWPIIEPSVSQQIVDGTNTALSENVAIPKFIKAIWLDQFTLGVKPPRIDAIKTFQNTKSDVVVMDVCLSFTPHDMSDLDAKQCRNYVNSNVVLKAKIFGMDIPVSVADIFFQVFVRFRFQLMTTLPLVETINIQLLEVPEVDFISRLLGNSVFNWEILAIPGLMRLIQKMAFKYLSPVLLPPFSLQLNIPQLLSKTGLPIGVLEIKVKNAHGLRKLVGMIKKTVDPYLTFELSGKIVGKTKVFKNSANPVWNESIYILLQSFTDPLTIAVYDKRETLSDKKMGTVIFNLNKLHANHYHKNEKVHFLRNSKPVGELTFDLRFFPTIEPKKLLNGDEEPLPDMNTGITKITIRELKGLDELSDKKFVFAELYVNAELVMTTKKEKRTAHLKWNSDYYSVVTDRRKTICRFVLKDQSGKVISSSVQPLNHLIDRTEVNKEWIPLRNGKGELKVTTYWRPVDIDLGLKSVGYTTPIGMLRVFINKAENLRNPDSLGKISPYAKVSVNGVARGRTNERIETLNPIWNQSIYVSVTSPLQKVSIDCFGIDTNGDDHNLGSLNIQTQNIYHKDNDDKYTIFIDNAPRTGNLIGKKGVKGTVTYYLSFYPVVPVLSLEEAKEVDEINEKKDKLEKQKSTLDDKNISKEEKERIKKEEFRLTEKYDMYSYKMKLDLDELLQYNAGVLGVTVLGGELPQPGLYVQTFFDSCGYAAITSAKNAIRTIKTGWSGDFMIKELEWSVTTFRVTKTKDANKAENFICEVNIPTIELVRNCYYKPSVLNLIGKKSAKLLVQVSWFPVTATELPQSDLITNSGDLKITAKSAENLIGVNKNGYSDPYVEFFLNEKSTSPFFKTAVQKKTLNPTWNESKTIEVSNRVNDYLTINVKDYESTNSNRSIGKAVVPLSTIDPESDTTFNIPLVGPKGEDGGVLHLEFEFEPRYTTNVVKREAGLGNFATKGLGTGIKAGSTVFALGTNVVSTGLGTIDKVKAGVFGGKKSTTTGDKKSEEKQ
UniProt ID: P48231
Variant: G -> R at position 1159-1159
Variant annotation: in strain: SK1
Protein function: May play a role in membrane trafficking.
Reference sequence:
MSPNSSKTRTDQISSMPGINEATKVESKNVVKDAVPIKSEVETNGTSIVREKQDPSYVGWKQVGGWEEKDELTSEDLLVDVNKDTFLGNLLPDKFYGDWYHEVAILIIAGLCSFVLGYFKFSLASVLIVMLTTGMLYRTSSKKYRESLRDLAQKEQTVEKITSDYESVEWLNTFLDKYWPIIEPSVSQQIVDGTNTALSENVAIPKFIKAIWLDQFTLGVKPPRIDAIKTFQNTKSDVVVMDVCLSFTPHDMSDLDAKQCRNYVNSNVVLKAKIFGMDIPVSVADIFFQVFVRFRFQLMTTLPLVETINIQLLEVPEVDFISRLLGNSVFNWEILAIPGLMRLIQKMAFKYLSPVLLPPFSLQLNIPQLLSKTGLPIGVLEIKVKNAHGLRKLVGMIKKTVDPYLTFELSGKIVGKTKVFKNSANPVWNESIYILLQSFTDPLTIAVYDKRETLSDKKMGTVIFNLNKLHANHYHKNEKVHFLRNSKPVGELTFDLRFFPTIEPKKLLNGDEEPLPDMNTGITKITIRELKGLDELSDKKFVFAELYVNAELVMTTKKEKRTAHLKWNSDYYSVVTDRRKTICRFVLKDQSGKVISSSVQPLNHLIDRTEVNKEWIPLRNGKGELKVTTYWRPVDIDLGLKSVGYTTPIGMLRVFINKAENLRNPDSLGKISPYAKVSVNGVARGRTNERIETLNPIWNQSIYVSVTSPLQKVSIDCFGIDTNGDDHNLGSLNIQTQNIYHKDNDDKYTIFIDNAPRTGNLIGKKGVKGTVTYYLSFYPVVPVLSLEEAKEVDEINEKKDKLEKQKSTLDDKNISKEEKERIKKEEFRLTEKYDMYSYKMKLDLDELLQYNAGVLGVTVLGGELPQPGLYVQTFFDSCGYAAITSAKNAIRTIKTGWSGDFMIKELEWSVTTFRVTKTKDANKAENFICEVNIPTIELVRNCYYKPSVLNLIGKKSAKLLVQVSWFPVTATELPQSDLITNSGDLKITAKSAENLIGVNKNGYSDPYVEFFLNEKSTSPFFKTAVQKKTLNPTWNESKTIEVSNRVNDYLTINVKDYESTNSNRSIGKAVVPLSTIDPESDTTFNIPLVGPKGEDGGVLHLEFEFEPRYTTNVVKREAGLGNFATKGLGTGIKAGSTVFALGTNVVSTGLGTIDKVKAGVFGGKKSTTTGDKKSEEKQ
UniProt ID: P48270
Variant: Q -> P at position 73-73
Variant annotation: in CC-3008; suppresses streptomycin dependence of the S12 mutant P90L
Protein function: With S5 and S12 plays an important role in translational accuracy.
Reference sequence:
MSRYLGPRLRVIRRIGKLRGFTRKKPFRRVFKGFGGFKGKVIPPGQHGLTKLLKTRPYDSSESDYLIRLKVKQRLRFNYGITERQLVNYVRKAKKIKESTGQVLLQFLEMRLDNIVFRLNMAPTIPAARQLISHGHIRVNNKKVNIPSYMCKPKDVISVAMKQRSLQLVNKNLQEYYRRMRFYKKRLEKTLPFILLKIKPLGLTSVTAAVELITKGNVRVNNKSVKTPNYICRPRDTVSLRTKQGIKKVFLKNYLKG
UniProt ID: P48270
Variant: V -> GITERQLVNYV at position 90-90
Variant annotation: in CC-3010; suppresses streptomycin dependence of the S12 mutant P90L
Protein function: With S5 and S12 plays an important role in translational accuracy.
Reference sequence:
MSRYLGPRLRVIRRIGKLRGFTRKKPFRRVFKGFGGFKGKVIPPGQHGLTKLLKTRPYDSSESDYLIRLKVKQRLRFNYGITERQLVNYVRKAKKIKESTGQVLLQFLEMRLDNIVFRLNMAPTIPAARQLISHGHIRVNNKKVNIPSYMCKPKDVISVAMKQRSLQLVNKNLQEYYRRMRFYKKRLEKTLPFILLKIKPLGLTSVTAAVELITKGNVRVNNKSVKTPNYICRPRDTVSLRTKQGIKKVFLKNYLKG
UniProt ID: P48270
Variant: K -> IVNYVRK at position 92-92
Variant annotation: in CC-3009; suppresses streptomycin dependence of the S12 mutant P90L
Protein function: With S5 and S12 plays an important role in translational accuracy.
Reference sequence:
MSRYLGPRLRVIRRIGKLRGFTRKKPFRRVFKGFGGFKGKVIPPGQHGLTKLLKTRPYDSSESDYLIRLKVKQRLRFNYGITERQLVNYVRKAKKIKESTGQVLLQFLEMRLDNIVFRLNMAPTIPAARQLISHGHIRVNNKKVNIPSYMCKPKDVISVAMKQRSLQLVNKNLQEYYRRMRFYKKRLEKTLPFILLKIKPLGLTSVTAAVELITKGNVRVNNKSVKTPNYICRPRDTVSLRTKQGIKKVFLKNYLKG
UniProt ID: P48304
Variant: R -> H at position 109-109
Variant annotation: in dbSNP:rs7586984
Protein function: Might act as an inhibitor of spontaneous calcium carbonate precipitation. May be associated with neuronal sprouting in brain, and with brain and pancreas regeneration.
Reference sequence:
MAQTNSFFMLISSLMFLSLSQGQESQTELPNPRISCPEGTNAYRSYCYYFNEDPETWVDADLYCQNMNSGNLVSVLTQAEGAFVASLIKESSTDDSNVWIGLHDPKKNRRWHWSSGSLVSYKSWDTGSPSSANAGYCASLTSCSGFKKWKDESCEKKFSFVCKFKN
UniProt ID: P48307
Variant: V -> A at position 102-102
Variant annotation: in dbSNP:rs1804202
Protein function: May play a role in the regulation of plasmin-mediated matrix remodeling. Inhibits trypsin, plasmin, factor VIIa/tissue factor and weakly factor Xa. Has no effect on thrombin.
Reference sequence:
MDPARPLGLSILLLFLTEAALGDAAQEPTGNNAEICLLPLDYGPCRALLLRYYYDRYTQSCRQFLYGGCEGNANNFYTWEACDDACWRIEKVPKVCRLQVSVDDQCEGSTEKYFFNLSSMTCEKFFSGGCHRNRIENRFPDEATCMGFCAPKKIPSFCYSPKDEGLCSANVTRYYFNPRYRTCDAFTYTGCGGNDNNFVSREDCKRACAKALKKKKKMPKLRFASRIRKIRKKQF
UniProt ID: P48307
Variant: R -> Q at position 231-231
Variant annotation: in dbSNP:rs12669450
Protein function: May play a role in the regulation of plasmin-mediated matrix remodeling. Inhibits trypsin, plasmin, factor VIIa/tissue factor and weakly factor Xa. Has no effect on thrombin.
Reference sequence:
MDPARPLGLSILLLFLTEAALGDAAQEPTGNNAEICLLPLDYGPCRALLLRYYYDRYTQSCRQFLYGGCEGNANNFYTWEACDDACWRIEKVPKVCRLQVSVDDQCEGSTEKYFFNLSSMTCEKFFSGGCHRNRIENRFPDEATCMGFCAPKKIPSFCYSPKDEGLCSANVTRYYFNPRYRTCDAFTYTGCGGNDNNFVSREDCKRACAKALKKKKKMPKLRFASRIRKIRKKQF
UniProt ID: P48356
Variant: V -> I at position 541-541
Variant annotation: in strain: NZO
Protein function: Antagonizes Isoform A and isoform B-mediated LEP binding and endocytosis.
Reference sequence:
MMCQKFYVVLLHWEFLYVIAALNLAYPISPWKFKLFCGPPNTTDDSFLSPAGAPNNASALKGASEAIVEAKFNSSGIYVPELSKTVFHCCFGNEQGQNCSALTDNTEGKTLASVVKASVFRQLGVNWDIECWMKGDLTLFICHMEPLPKNPFKNYDSKVHLLYDLPEVIDDSPLPPLKDSFQTVQCNCSLRGCECHVPVPRAKLNYALLMYLEITSAGVSFQSPLMSLQPMLVVKPDPPLGLHMEVTDDGNLKISWDSQTMAPFPLQYQVKYLENSTIVREAAEIVSATSLLVDSVLPGSSYEVQVRSKRLDGSGVWSDWSSPQVFTTQDVVYFPPKILTSVGSNASFHCIYKNENQIISSKQIVWWRNLAEKIPEIQYSIVSDRVSKVTFSNLKATRPRGKFTYDAVYCCNEQACHHRYAELYVIDVNINISCETDGYLTKMTCRWSPSTIQSLVGSTVQLRYHRRSLYCPDSPSIHPTSEPKNCVLQRDGFYECVFQPIFLLSGYTMWIRINHSLGSLDSPPTCVLPDSVVKPLPPSNVKAEITVNTGLLKVSWEKPVFPENNLQFQIRYGLSGKEIQWKTHEVFDAKSKSASLLVSDLCAVYVVQVRCRRLDGLGYWSNWSSPAYTLVMDVKVPMRGPEFWRKMDGDVTKKERNVTLLWKPLTKNDSLCSVRRYVVKHRTAHNGTWSEDVGNRTNLTFLWTEPAHTVTVLAVNSLGASLVNFNLTFSWPMSKVSAVESLSAYPLSSSCVILSWTLSPDDYSLLYLVIEWKILNEDDGMKWLRIPSNVKKFYIHDNFIPIEKYQFSLYPVFMEGVGKPKIINGFTKDAIDKQQNDAGLYVIVPIIISSCVLLLGTLLISHQRMKKLFWDDVPNPKNCSWAQGLNFQKPETFEHLFTKHAESVIFGPLLLEPEPISEEISVDTAWKNKDEMVPAAMVSLLLTTPDPESSSICISDQCNSANFSGSQSTQVTCEDECQRQPSVKYATLVSNDKLVETDEEQGFIHSPVSNCISSNHSPLRQSFSSSSWETEAQTFFLLSDQQPTMISPQLSFSGLDELLELEGSFPEENHREKSVCYLGVTSVNRRESGVLLTGEAGILCTFPAQCLFSDIRILQERCSHFVENNLSLGTSGENFVPYMPQFQTCSTHSHKIMENKMCDLTV
UniProt ID: P48356
Variant: D -> N at position 600-600
Variant annotation: in strain: KKObese
Protein function: Antagonizes Isoform A and isoform B-mediated LEP binding and endocytosis.
Reference sequence:
MMCQKFYVVLLHWEFLYVIAALNLAYPISPWKFKLFCGPPNTTDDSFLSPAGAPNNASALKGASEAIVEAKFNSSGIYVPELSKTVFHCCFGNEQGQNCSALTDNTEGKTLASVVKASVFRQLGVNWDIECWMKGDLTLFICHMEPLPKNPFKNYDSKVHLLYDLPEVIDDSPLPPLKDSFQTVQCNCSLRGCECHVPVPRAKLNYALLMYLEITSAGVSFQSPLMSLQPMLVVKPDPPLGLHMEVTDDGNLKISWDSQTMAPFPLQYQVKYLENSTIVREAAEIVSATSLLVDSVLPGSSYEVQVRSKRLDGSGVWSDWSSPQVFTTQDVVYFPPKILTSVGSNASFHCIYKNENQIISSKQIVWWRNLAEKIPEIQYSIVSDRVSKVTFSNLKATRPRGKFTYDAVYCCNEQACHHRYAELYVIDVNINISCETDGYLTKMTCRWSPSTIQSLVGSTVQLRYHRRSLYCPDSPSIHPTSEPKNCVLQRDGFYECVFQPIFLLSGYTMWIRINHSLGSLDSPPTCVLPDSVVKPLPPSNVKAEITVNTGLLKVSWEKPVFPENNLQFQIRYGLSGKEIQWKTHEVFDAKSKSASLLVSDLCAVYVVQVRCRRLDGLGYWSNWSSPAYTLVMDVKVPMRGPEFWRKMDGDVTKKERNVTLLWKPLTKNDSLCSVRRYVVKHRTAHNGTWSEDVGNRTNLTFLWTEPAHTVTVLAVNSLGASLVNFNLTFSWPMSKVSAVESLSAYPLSSSCVILSWTLSPDDYSLLYLVIEWKILNEDDGMKWLRIPSNVKKFYIHDNFIPIEKYQFSLYPVFMEGVGKPKIINGFTKDAIDKQQNDAGLYVIVPIIISSCVLLLGTLLISHQRMKKLFWDDVPNPKNCSWAQGLNFQKPETFEHLFTKHAESVIFGPLLLEPEPISEEISVDTAWKNKDEMVPAAMVSLLLTTPDPESSSICISDQCNSANFSGSQSTQVTCEDECQRQPSVKYATLVSNDKLVETDEEQGFIHSPVSNCISSNHSPLRQSFSSSSWETEAQTFFLLSDQQPTMISPQLSFSGLDELLELEGSFPEENHREKSVCYLGVTSVNRRESGVLLTGEAGILCTFPAQCLFSDIRILQERCSHFVENNLSLGTSGENFVPYMPQFQTCSTHSHKIMENKMCDLTV
UniProt ID: P48356
Variant: V -> I at position 651-651
Variant annotation: in strain: NZO
Protein function: Antagonizes Isoform A and isoform B-mediated LEP binding and endocytosis.
Reference sequence:
MMCQKFYVVLLHWEFLYVIAALNLAYPISPWKFKLFCGPPNTTDDSFLSPAGAPNNASALKGASEAIVEAKFNSSGIYVPELSKTVFHCCFGNEQGQNCSALTDNTEGKTLASVVKASVFRQLGVNWDIECWMKGDLTLFICHMEPLPKNPFKNYDSKVHLLYDLPEVIDDSPLPPLKDSFQTVQCNCSLRGCECHVPVPRAKLNYALLMYLEITSAGVSFQSPLMSLQPMLVVKPDPPLGLHMEVTDDGNLKISWDSQTMAPFPLQYQVKYLENSTIVREAAEIVSATSLLVDSVLPGSSYEVQVRSKRLDGSGVWSDWSSPQVFTTQDVVYFPPKILTSVGSNASFHCIYKNENQIISSKQIVWWRNLAEKIPEIQYSIVSDRVSKVTFSNLKATRPRGKFTYDAVYCCNEQACHHRYAELYVIDVNINISCETDGYLTKMTCRWSPSTIQSLVGSTVQLRYHRRSLYCPDSPSIHPTSEPKNCVLQRDGFYECVFQPIFLLSGYTMWIRINHSLGSLDSPPTCVLPDSVVKPLPPSNVKAEITVNTGLLKVSWEKPVFPENNLQFQIRYGLSGKEIQWKTHEVFDAKSKSASLLVSDLCAVYVVQVRCRRLDGLGYWSNWSSPAYTLVMDVKVPMRGPEFWRKMDGDVTKKERNVTLLWKPLTKNDSLCSVRRYVVKHRTAHNGTWSEDVGNRTNLTFLWTEPAHTVTVLAVNSLGASLVNFNLTFSWPMSKVSAVESLSAYPLSSSCVILSWTLSPDDYSLLYLVIEWKILNEDDGMKWLRIPSNVKKFYIHDNFIPIEKYQFSLYPVFMEGVGKPKIINGFTKDAIDKQQNDAGLYVIVPIIISSCVLLLGTLLISHQRMKKLFWDDVPNPKNCSWAQGLNFQKPETFEHLFTKHAESVIFGPLLLEPEPISEEISVDTAWKNKDEMVPAAMVSLLLTTPDPESSSICISDQCNSANFSGSQSTQVTCEDECQRQPSVKYATLVSNDKLVETDEEQGFIHSPVSNCISSNHSPLRQSFSSSSWETEAQTFFLLSDQQPTMISPQLSFSGLDELLELEGSFPEENHREKSVCYLGVTSVNRRESGVLLTGEAGILCTFPAQCLFSDIRILQERCSHFVENNLSLGTSGENFVPYMPQFQTCSTHSHKIMENKMCDLTV
UniProt ID: P48356
Variant: T -> I at position 1044-1044
Variant annotation: in strain: NZO
Protein function: Antagonizes Isoform A and isoform B-mediated LEP binding and endocytosis.
Reference sequence:
MMCQKFYVVLLHWEFLYVIAALNLAYPISPWKFKLFCGPPNTTDDSFLSPAGAPNNASALKGASEAIVEAKFNSSGIYVPELSKTVFHCCFGNEQGQNCSALTDNTEGKTLASVVKASVFRQLGVNWDIECWMKGDLTLFICHMEPLPKNPFKNYDSKVHLLYDLPEVIDDSPLPPLKDSFQTVQCNCSLRGCECHVPVPRAKLNYALLMYLEITSAGVSFQSPLMSLQPMLVVKPDPPLGLHMEVTDDGNLKISWDSQTMAPFPLQYQVKYLENSTIVREAAEIVSATSLLVDSVLPGSSYEVQVRSKRLDGSGVWSDWSSPQVFTTQDVVYFPPKILTSVGSNASFHCIYKNENQIISSKQIVWWRNLAEKIPEIQYSIVSDRVSKVTFSNLKATRPRGKFTYDAVYCCNEQACHHRYAELYVIDVNINISCETDGYLTKMTCRWSPSTIQSLVGSTVQLRYHRRSLYCPDSPSIHPTSEPKNCVLQRDGFYECVFQPIFLLSGYTMWIRINHSLGSLDSPPTCVLPDSVVKPLPPSNVKAEITVNTGLLKVSWEKPVFPENNLQFQIRYGLSGKEIQWKTHEVFDAKSKSASLLVSDLCAVYVVQVRCRRLDGLGYWSNWSSPAYTLVMDVKVPMRGPEFWRKMDGDVTKKERNVTLLWKPLTKNDSLCSVRRYVVKHRTAHNGTWSEDVGNRTNLTFLWTEPAHTVTVLAVNSLGASLVNFNLTFSWPMSKVSAVESLSAYPLSSSCVILSWTLSPDDYSLLYLVIEWKILNEDDGMKWLRIPSNVKKFYIHDNFIPIEKYQFSLYPVFMEGVGKPKIINGFTKDAIDKQQNDAGLYVIVPIIISSCVLLLGTLLISHQRMKKLFWDDVPNPKNCSWAQGLNFQKPETFEHLFTKHAESVIFGPLLLEPEPISEEISVDTAWKNKDEMVPAAMVSLLLTTPDPESSSICISDQCNSANFSGSQSTQVTCEDECQRQPSVKYATLVSNDKLVETDEEQGFIHSPVSNCISSNHSPLRQSFSSSSWETEAQTFFLLSDQQPTMISPQLSFSGLDELLELEGSFPEENHREKSVCYLGVTSVNRRESGVLLTGEAGILCTFPAQCLFSDIRILQERCSHFVENNLSLGTSGENFVPYMPQFQTCSTHSHKIMENKMCDLTV
UniProt ID: P48357
Variant: K -> R at position 109-109
Variant annotation: in dbSNP:rs1137100
Protein function: Antagonizes Isoform A and isoform B-mediated LEP binding and endocytosis.
Reference sequence:
MICQKFCVVLLHWEFIYVITAFNLSYPITPWRFKLSCMPPNSTYDYFLLPAGLSKNTSNSNGHYETAVEPKFNSSGTHFSNLSKTTFHCCFRSEQDRNCSLCADNIEGKTFVSTVNSLVFQQIDANWNIQCWLKGDLKLFICYVESLFKNLFRNYNYKVHLLYVLPEVLEDSPLVPQKGSFQMVHCNCSVHECCECLVPVPTAKLNDTLLMCLKITSGGVIFQSPLMSVQPINMVKPDPPLGLHMEITDDGNLKISWSSPPLVPFPLQYQVKYSENSTTVIREADKIVSATSLLVDSILPGSSYEVQVRGKRLDGPGIWSDWSTPRVFTTQDVIYFPPKILTSVGSNVSFHCIYKKENKIVPSKEIVWWMNLAEKIPQSQYDVVSDHVSKVTFFNLNETKPRGKFTYDAVYCCNEHECHHRYAELYVIDVNINISCETDGYLTKMTCRWSTSTIQSLAESTLQLRYHRSSLYCSDIPSIHPISEPKDCYLQSDGFYECIFQPIFLLSGYTMWIRINHSLGSLDSPPTCVLPDSVVKPLPPSSVKAEITINIGLLKISWEKPVFPENNLQFQIRYGLSGKEVQWKMYEVYDAKSKSVSLPVPDLCAVYAVQVRCKRLDGLGYWSNWSNPAYTVVMDIKVPMRGPEFWRIINGDTMKKEKNVTLLWKPLMKNDSLCSVQRYVINHHTSCNGTWSEDVGNHTKFTFLWTEQAHTVTVLAINSIGASVANFNLTFSWPMSKVNIVQSLSAYPLNSSCVIVSWILSPSDYKLMYFIIEWKNLNEDGEIKWLRISSSVKKYYIHDHFIPIEKYQFSLYPIFMEGVGKPKIINSFTQDDIEKHQSDAGLYVIVPVIISSSILLLGTLLISHQRMKKLFWEDVPNPKNCSWAQGLNFQKPETFEHLFIKHTASVTCGPLLLEPETISEDISVDTSWKNKDEMMPTTVVSLLSTTDLEKGSVCISDQFNSVNFSEAEGTEVTYEDESQRQPFVKYATLISNSKPSETGEEQGLINSSVTKCFSSKNSPLKDSFSNSSWEIEAQAFFILSDQHPNIISPHLTFSEGLDELLKLEGNFPEENNDKKSIYYLGVTSIKKRESGVLLTDKSRVSCPFPAPCLFTDIRVLQDSCSHFVENNINLGTSSKKTFASYMPQFQTCSTQTHKIMENKMCDLTV