sujigwak/NVAR huggingface dataset:
UniProt ID: Q5A8T7
Variant: AQV -> SEA at position 1267-1269
Variant annotation: in allele ALS5-1
Protein function: Cell surface adhesion protein which mediates both yeast-to-host tissue adherence and yeast aggregation. Plays an important role in the pathogenesis of C.albicans infections. Forms amyloid structures, essential for cell-cell association and cell-substrate adhesion to polystyrene.
Reference sequence:
MIQQFTLLFLYLSFATAKAITGIFNSIDSLTWSNAGNYAFKGPGYPTWNAVLGWSLDGTSANPGDTFILNMPCVFKFTASQKSVDLTADGVKYATCQFYSGEEFTTFSSLKCTVNNNLRSSIKALGTVTLPIAFNVGGTGSSVDLEDSKCFTAGTNTVTFNDGSKKLSIAVNFEKSTVDQSGYLTTSRFMPSLNKIATLYVAPQCENGYTSGTMGFSTSYGDVAIDCSNVHIGISKGVNDWNHPVTSESFSYTKSCSSFGISITYQNVPAGYRPFIDAYISPSDNNQYQLSYKNDYTCVDDYWQHAPFTLKWTGYKNSDAGSNGIVIVATTRTVTDSTTAVTTLPFNPSVDKTKTIEILQPIPTTTITTSYVGVTTSYSTKTAPIGETATVIVDVPYHTTTTVTSEWTGTITTTTTRTNPTDSIDTVVVQVPLPNPTTTTTQFWSESFTSTTTITNSLKGTDSVIVREPHNPTVTTTEFWSESYATTETITNGPEGTDSVIVREPHNPTVTTTEFWSESYATTETVTNKPEGTDSVIIKEPHNPTVTTTEFWSESYATTETITTGPLGTDSIVIHDPLEESSSTTAIESSDSNISSSAQESSSSVEQSSSIVGLSSSSDIPLSSDMPSSSSTGLTSSESSTVSSYDSDSSSSSELSTFSSSESYSSSISDTTNFWDSSSSDLESTSITWSSSIDAQSSQSVQSVSNSISTSQETTSSSGEESNTSVTDILVSSDASSILNSDISSYYPSSTISLSDDFPHTIAGEPDSRSSSSIASTVEISSDLVSLTSDPTSSFDSSSSLNSDSSSSPFSDESDISASSSFSTLVAPSFSLSSSSSLSLTYPHYVNSTTYHASESESSSVASPSMASESANDDTHTLSESTDTTSSIGTDSSTVTFCRRDNGDGCIVTGMPSSSIDSEQTSDVTTTSSFVASSTPTSAEQSITDNPNIDSSQTSASSSTKSSVSVSDTVVNSISLSETSTLSSDDSTSSDTSISSTTNSDTGNINAGSSHTSTASIKESSIQKTGVMLSSSYLSTKLSSTSDITTELITTELITTELTTIEDNEPNTFTSTPSSHSEIFSSDNSVLSKQVDRESTIKTSPTTDVTTVSSLSVHSTEASTATLGENSFSNVASTPSNIATSLRSTSSSSNHATESSGTVKSEASAEAIPSPPTSTDNRLSYSTEEAKGITYANSGSTNNLITESQVAAPTDSTSVLIENPVVTSTFDDNSSAAVDQPSKTKSIEESIMNPDSTNETNNGFIATLSQAQVPNSLIHSESISTTMAKTTDASINGDSAASNSQPTTLIQQVATSSYNQPLITTYAGSSSATKHPSWLLKFISVALFFFL
UniProt ID: Q5A8T7
Variant: N -> S at position 1271-1271
Variant annotation: in allele ALS5-2
Protein function: Cell surface adhesion protein which mediates both yeast-to-host tissue adherence and yeast aggregation. Plays an important role in the pathogenesis of C.albicans infections. Forms amyloid structures, essential for cell-cell association and cell-substrate adhesion to polystyrene.
Reference sequence:
MIQQFTLLFLYLSFATAKAITGIFNSIDSLTWSNAGNYAFKGPGYPTWNAVLGWSLDGTSANPGDTFILNMPCVFKFTASQKSVDLTADGVKYATCQFYSGEEFTTFSSLKCTVNNNLRSSIKALGTVTLPIAFNVGGTGSSVDLEDSKCFTAGTNTVTFNDGSKKLSIAVNFEKSTVDQSGYLTTSRFMPSLNKIATLYVAPQCENGYTSGTMGFSTSYGDVAIDCSNVHIGISKGVNDWNHPVTSESFSYTKSCSSFGISITYQNVPAGYRPFIDAYISPSDNNQYQLSYKNDYTCVDDYWQHAPFTLKWTGYKNSDAGSNGIVIVATTRTVTDSTTAVTTLPFNPSVDKTKTIEILQPIPTTTITTSYVGVTTSYSTKTAPIGETATVIVDVPYHTTTTVTSEWTGTITTTTTRTNPTDSIDTVVVQVPLPNPTTTTTQFWSESFTSTTTITNSLKGTDSVIVREPHNPTVTTTEFWSESYATTETITNGPEGTDSVIVREPHNPTVTTTEFWSESYATTETVTNKPEGTDSVIIKEPHNPTVTTTEFWSESYATTETITTGPLGTDSIVIHDPLEESSSTTAIESSDSNISSSAQESSSSVEQSSSIVGLSSSSDIPLSSDMPSSSSTGLTSSESSTVSSYDSDSSSSSELSTFSSSESYSSSISDTTNFWDSSSSDLESTSITWSSSIDAQSSQSVQSVSNSISTSQETTSSSGEESNTSVTDILVSSDASSILNSDISSYYPSSTISLSDDFPHTIAGEPDSRSSSSIASTVEISSDLVSLTSDPTSSFDSSSSLNSDSSSSPFSDESDISASSSFSTLVAPSFSLSSSSSLSLTYPHYVNSTTYHASESESSSVASPSMASESANDDTHTLSESTDTTSSIGTDSSTVTFCRRDNGDGCIVTGMPSSSIDSEQTSDVTTTSSFVASSTPTSAEQSITDNPNIDSSQTSASSSTKSSVSVSDTVVNSISLSETSTLSSDDSTSSDTSISSTTNSDTGNINAGSSHTSTASIKESSIQKTGVMLSSSYLSTKLSSTSDITTELITTELITTELTTIEDNEPNTFTSTPSSHSEIFSSDNSVLSKQVDRESTIKTSPTTDVTTVSSLSVHSTEASTATLGENSFSNVASTPSNIATSLRSTSSSSNHATESSGTVKSEASAEAIPSPPTSTDNRLSYSTEEAKGITYANSGSTNNLITESQVAAPTDSTSVLIENPVVTSTFDDNSSAAVDQPSKTKSIEESIMNPDSTNETNNGFIATLSQAQVPNSLIHSESISTTMAKTTDASINGDSAASNSQPTTLIQQVATSSYNQPLITTYAGSSSATKHPSWLLKFISVALFFFL
UniProt ID: Q5A8T7
Variant: L -> S at position 1273-1273
Variant annotation: in allele ALS5-2
Protein function: Cell surface adhesion protein which mediates both yeast-to-host tissue adherence and yeast aggregation. Plays an important role in the pathogenesis of C.albicans infections. Forms amyloid structures, essential for cell-cell association and cell-substrate adhesion to polystyrene.
Reference sequence:
MIQQFTLLFLYLSFATAKAITGIFNSIDSLTWSNAGNYAFKGPGYPTWNAVLGWSLDGTSANPGDTFILNMPCVFKFTASQKSVDLTADGVKYATCQFYSGEEFTTFSSLKCTVNNNLRSSIKALGTVTLPIAFNVGGTGSSVDLEDSKCFTAGTNTVTFNDGSKKLSIAVNFEKSTVDQSGYLTTSRFMPSLNKIATLYVAPQCENGYTSGTMGFSTSYGDVAIDCSNVHIGISKGVNDWNHPVTSESFSYTKSCSSFGISITYQNVPAGYRPFIDAYISPSDNNQYQLSYKNDYTCVDDYWQHAPFTLKWTGYKNSDAGSNGIVIVATTRTVTDSTTAVTTLPFNPSVDKTKTIEILQPIPTTTITTSYVGVTTSYSTKTAPIGETATVIVDVPYHTTTTVTSEWTGTITTTTTRTNPTDSIDTVVVQVPLPNPTTTTTQFWSESFTSTTTITNSLKGTDSVIVREPHNPTVTTTEFWSESYATTETITNGPEGTDSVIVREPHNPTVTTTEFWSESYATTETVTNKPEGTDSVIIKEPHNPTVTTTEFWSESYATTETITTGPLGTDSIVIHDPLEESSSTTAIESSDSNISSSAQESSSSVEQSSSIVGLSSSSDIPLSSDMPSSSSTGLTSSESSTVSSYDSDSSSSSELSTFSSSESYSSSISDTTNFWDSSSSDLESTSITWSSSIDAQSSQSVQSVSNSISTSQETTSSSGEESNTSVTDILVSSDASSILNSDISSYYPSSTISLSDDFPHTIAGEPDSRSSSSIASTVEISSDLVSLTSDPTSSFDSSSSLNSDSSSSPFSDESDISASSSFSTLVAPSFSLSSSSSLSLTYPHYVNSTTYHASESESSSVASPSMASESANDDTHTLSESTDTTSSIGTDSSTVTFCRRDNGDGCIVTGMPSSSIDSEQTSDVTTTSSFVASSTPTSAEQSITDNPNIDSSQTSASSSTKSSVSVSDTVVNSISLSETSTLSSDDSTSSDTSISSTTNSDTGNINAGSSHTSTASIKESSIQKTGVMLSSSYLSTKLSSTSDITTELITTELITTELTTIEDNEPNTFTSTPSSHSEIFSSDNSVLSKQVDRESTIKTSPTTDVTTVSSLSVHSTEASTATLGENSFSNVASTPSNIATSLRSTSSSSNHATESSGTVKSEASAEAIPSPPTSTDNRLSYSTEEAKGITYANSGSTNNLITESQVAAPTDSTSVLIENPVVTSTFDDNSSAAVDQPSKTKSIEESIMNPDSTNETNNGFIATLSQAQVPNSLIHSESISTTMAKTTDASINGDSAASNSQPTTLIQQVATSSYNQPLITTYAGSSSATKHPSWLLKFISVALFFFL
UniProt ID: Q5A8T7
Variant: S -> L at position 1278-1278
Variant annotation: in allele ALS5-2
Protein function: Cell surface adhesion protein which mediates both yeast-to-host tissue adherence and yeast aggregation. Plays an important role in the pathogenesis of C.albicans infections. Forms amyloid structures, essential for cell-cell association and cell-substrate adhesion to polystyrene.
Reference sequence:
MIQQFTLLFLYLSFATAKAITGIFNSIDSLTWSNAGNYAFKGPGYPTWNAVLGWSLDGTSANPGDTFILNMPCVFKFTASQKSVDLTADGVKYATCQFYSGEEFTTFSSLKCTVNNNLRSSIKALGTVTLPIAFNVGGTGSSVDLEDSKCFTAGTNTVTFNDGSKKLSIAVNFEKSTVDQSGYLTTSRFMPSLNKIATLYVAPQCENGYTSGTMGFSTSYGDVAIDCSNVHIGISKGVNDWNHPVTSESFSYTKSCSSFGISITYQNVPAGYRPFIDAYISPSDNNQYQLSYKNDYTCVDDYWQHAPFTLKWTGYKNSDAGSNGIVIVATTRTVTDSTTAVTTLPFNPSVDKTKTIEILQPIPTTTITTSYVGVTTSYSTKTAPIGETATVIVDVPYHTTTTVTSEWTGTITTTTTRTNPTDSIDTVVVQVPLPNPTTTTTQFWSESFTSTTTITNSLKGTDSVIVREPHNPTVTTTEFWSESYATTETITNGPEGTDSVIVREPHNPTVTTTEFWSESYATTETVTNKPEGTDSVIIKEPHNPTVTTTEFWSESYATTETITTGPLGTDSIVIHDPLEESSSTTAIESSDSNISSSAQESSSSVEQSSSIVGLSSSSDIPLSSDMPSSSSTGLTSSESSTVSSYDSDSSSSSELSTFSSSESYSSSISDTTNFWDSSSSDLESTSITWSSSIDAQSSQSVQSVSNSISTSQETTSSSGEESNTSVTDILVSSDASSILNSDISSYYPSSTISLSDDFPHTIAGEPDSRSSSSIASTVEISSDLVSLTSDPTSSFDSSSSLNSDSSSSPFSDESDISASSSFSTLVAPSFSLSSSSSLSLTYPHYVNSTTYHASESESSSVASPSMASESANDDTHTLSESTDTTSSIGTDSSTVTFCRRDNGDGCIVTGMPSSSIDSEQTSDVTTTSSFVASSTPTSAEQSITDNPNIDSSQTSASSSTKSSVSVSDTVVNSISLSETSTLSSDDSTSSDTSISSTTNSDTGNINAGSSHTSTASIKESSIQKTGVMLSSSYLSTKLSSTSDITTELITTELITTELTTIEDNEPNTFTSTPSSHSEIFSSDNSVLSKQVDRESTIKTSPTTDVTTVSSLSVHSTEASTATLGENSFSNVASTPSNIATSLRSTSSSSNHATESSGTVKSEASAEAIPSPPTSTDNRLSYSTEEAKGITYANSGSTNNLITESQVAAPTDSTSVLIENPVVTSTFDDNSSAAVDQPSKTKSIEESIMNPDSTNETNNGFIATLSQAQVPNSLIHSESISTTMAKTTDASINGDSAASNSQPTTLIQQVATSSYNQPLITTYAGSSSATKHPSWLLKFISVALFFFL
UniProt ID: Q5A8T7
Variant: M -> T at position 1283-1283
Variant annotation: in allele ALS5-2
Protein function: Cell surface adhesion protein which mediates both yeast-to-host tissue adherence and yeast aggregation. Plays an important role in the pathogenesis of C.albicans infections. Forms amyloid structures, essential for cell-cell association and cell-substrate adhesion to polystyrene.
Reference sequence:
MIQQFTLLFLYLSFATAKAITGIFNSIDSLTWSNAGNYAFKGPGYPTWNAVLGWSLDGTSANPGDTFILNMPCVFKFTASQKSVDLTADGVKYATCQFYSGEEFTTFSSLKCTVNNNLRSSIKALGTVTLPIAFNVGGTGSSVDLEDSKCFTAGTNTVTFNDGSKKLSIAVNFEKSTVDQSGYLTTSRFMPSLNKIATLYVAPQCENGYTSGTMGFSTSYGDVAIDCSNVHIGISKGVNDWNHPVTSESFSYTKSCSSFGISITYQNVPAGYRPFIDAYISPSDNNQYQLSYKNDYTCVDDYWQHAPFTLKWTGYKNSDAGSNGIVIVATTRTVTDSTTAVTTLPFNPSVDKTKTIEILQPIPTTTITTSYVGVTTSYSTKTAPIGETATVIVDVPYHTTTTVTSEWTGTITTTTTRTNPTDSIDTVVVQVPLPNPTTTTTQFWSESFTSTTTITNSLKGTDSVIVREPHNPTVTTTEFWSESYATTETITNGPEGTDSVIVREPHNPTVTTTEFWSESYATTETVTNKPEGTDSVIIKEPHNPTVTTTEFWSESYATTETITTGPLGTDSIVIHDPLEESSSTTAIESSDSNISSSAQESSSSVEQSSSIVGLSSSSDIPLSSDMPSSSSTGLTSSESSTVSSYDSDSSSSSELSTFSSSESYSSSISDTTNFWDSSSSDLESTSITWSSSIDAQSSQSVQSVSNSISTSQETTSSSGEESNTSVTDILVSSDASSILNSDISSYYPSSTISLSDDFPHTIAGEPDSRSSSSIASTVEISSDLVSLTSDPTSSFDSSSSLNSDSSSSPFSDESDISASSSFSTLVAPSFSLSSSSSLSLTYPHYVNSTTYHASESESSSVASPSMASESANDDTHTLSESTDTTSSIGTDSSTVTFCRRDNGDGCIVTGMPSSSIDSEQTSDVTTTSSFVASSTPTSAEQSITDNPNIDSSQTSASSSTKSSVSVSDTVVNSISLSETSTLSSDDSTSSDTSISSTTNSDTGNINAGSSHTSTASIKESSIQKTGVMLSSSYLSTKLSSTSDITTELITTELITTELTTIEDNEPNTFTSTPSSHSEIFSSDNSVLSKQVDRESTIKTSPTTDVTTVSSLSVHSTEASTATLGENSFSNVASTPSNIATSLRSTSSSSNHATESSGTVKSEASAEAIPSPPTSTDNRLSYSTEEAKGITYANSGSTNNLITESQVAAPTDSTSVLIENPVVTSTFDDNSSAAVDQPSKTKSIEESIMNPDSTNETNNGFIATLSQAQVPNSLIHSESISTTMAKTTDASINGDSAASNSQPTTLIQQVATSSYNQPLITTYAGSSSATKHPSWLLKFISVALFFFL
UniProt ID: Q5A8T7
Variant: I -> M at position 1291-1291
Variant annotation: in allele ALS5-2
Protein function: Cell surface adhesion protein which mediates both yeast-to-host tissue adherence and yeast aggregation. Plays an important role in the pathogenesis of C.albicans infections. Forms amyloid structures, essential for cell-cell association and cell-substrate adhesion to polystyrene.
Reference sequence:
MIQQFTLLFLYLSFATAKAITGIFNSIDSLTWSNAGNYAFKGPGYPTWNAVLGWSLDGTSANPGDTFILNMPCVFKFTASQKSVDLTADGVKYATCQFYSGEEFTTFSSLKCTVNNNLRSSIKALGTVTLPIAFNVGGTGSSVDLEDSKCFTAGTNTVTFNDGSKKLSIAVNFEKSTVDQSGYLTTSRFMPSLNKIATLYVAPQCENGYTSGTMGFSTSYGDVAIDCSNVHIGISKGVNDWNHPVTSESFSYTKSCSSFGISITYQNVPAGYRPFIDAYISPSDNNQYQLSYKNDYTCVDDYWQHAPFTLKWTGYKNSDAGSNGIVIVATTRTVTDSTTAVTTLPFNPSVDKTKTIEILQPIPTTTITTSYVGVTTSYSTKTAPIGETATVIVDVPYHTTTTVTSEWTGTITTTTTRTNPTDSIDTVVVQVPLPNPTTTTTQFWSESFTSTTTITNSLKGTDSVIVREPHNPTVTTTEFWSESYATTETITNGPEGTDSVIVREPHNPTVTTTEFWSESYATTETVTNKPEGTDSVIIKEPHNPTVTTTEFWSESYATTETITTGPLGTDSIVIHDPLEESSSTTAIESSDSNISSSAQESSSSVEQSSSIVGLSSSSDIPLSSDMPSSSSTGLTSSESSTVSSYDSDSSSSSELSTFSSSESYSSSISDTTNFWDSSSSDLESTSITWSSSIDAQSSQSVQSVSNSISTSQETTSSSGEESNTSVTDILVSSDASSILNSDISSYYPSSTISLSDDFPHTIAGEPDSRSSSSIASTVEISSDLVSLTSDPTSSFDSSSSLNSDSSSSPFSDESDISASSSFSTLVAPSFSLSSSSSLSLTYPHYVNSTTYHASESESSSVASPSMASESANDDTHTLSESTDTTSSIGTDSSTVTFCRRDNGDGCIVTGMPSSSIDSEQTSDVTTTSSFVASSTPTSAEQSITDNPNIDSSQTSASSSTKSSVSVSDTVVNSISLSETSTLSSDDSTSSDTSISSTTNSDTGNINAGSSHTSTASIKESSIQKTGVMLSSSYLSTKLSSTSDITTELITTELITTELTTIEDNEPNTFTSTPSSHSEIFSSDNSVLSKQVDRESTIKTSPTTDVTTVSSLSVHSTEASTATLGENSFSNVASTPSNIATSLRSTSSSSNHATESSGTVKSEASAEAIPSPPTSTDNRLSYSTEEAKGITYANSGSTNNLITESQVAAPTDSTSVLIENPVVTSTFDDNSSAAVDQPSKTKSIEESIMNPDSTNETNNGFIATLSQAQVPNSLIHSESISTTMAKTTDASINGDSAASNSQPTTLIQQVATSSYNQPLITTYAGSSSATKHPSWLLKFISVALFFFL
UniProt ID: Q5AG40
Variant: A -> V at position 4-4
Variant annotation: in allele: CaO19.11814
Protein function: Pre-vacuolar protein sorting protein involved in the transport of biosynthetic membrane proteins from the prevacuolar/endosomal compartment to the vacuole. Required for multivesicular body (MVB) protein sorting. Catalyzes the ATP-dependent dissociation of class E VPS proteins from endosomal membranes, such as the disassembly of the ESCRT-III complex. Required for extracellular secretion of the secreted aspartyl proteases SAP2, SAP4, SAP5, and SAP6. Its regulation of the pre-vacuolar secretory pathway is critical for virulence.
Reference sequence:
MSGASDFLSKGIDLVQKAIDADTATRYEEAYKLYYNGLDYLMLAIKYEKNPKSKELVKSKFTEYLTRAEQLKDHLEKQAQNKSTAESSVNGSTKAKKSNGDGNGSGDDNDDADTKKLRGALAGAILSEKPNVKWSDIAGLDAAKEALKEAVILPVKFPQLFVGNRKPTSGILLYGPPGTGKSYLAKAVATEANSTFFSVSSSDLVSKWMGESERLVKQLFTMARENKPSIIFIDEVDALCGPRGEGESEASRRIKTELLVQMNGVGNDSQGVLVLGATNIPWQLDAAVRRRFERRIYIALPDVEARTRMFEINIGDVPCECTPHDYRTLAEMTDGYSGHDVAVVVRDALMQPIRKIQQATHFKPVIDETDGKEKLTPCSPGDEGAREMNWMDLATDELKEPPLTIKDFIKAIKNNRPTVNEADIAQHVKFTEDFGQEGN
UniProt ID: Q5AG40
Variant: G -> S at position 102-102
Variant annotation: in allele: CaO19.11814
Protein function: Pre-vacuolar protein sorting protein involved in the transport of biosynthetic membrane proteins from the prevacuolar/endosomal compartment to the vacuole. Required for multivesicular body (MVB) protein sorting. Catalyzes the ATP-dependent dissociation of class E VPS proteins from endosomal membranes, such as the disassembly of the ESCRT-III complex. Required for extracellular secretion of the secreted aspartyl proteases SAP2, SAP4, SAP5, and SAP6. Its regulation of the pre-vacuolar secretory pathway is critical for virulence.
Reference sequence:
MSGASDFLSKGIDLVQKAIDADTATRYEEAYKLYYNGLDYLMLAIKYEKNPKSKELVKSKFTEYLTRAEQLKDHLEKQAQNKSTAESSVNGSTKAKKSNGDGNGSGDDNDDADTKKLRGALAGAILSEKPNVKWSDIAGLDAAKEALKEAVILPVKFPQLFVGNRKPTSGILLYGPPGTGKSYLAKAVATEANSTFFSVSSSDLVSKWMGESERLVKQLFTMARENKPSIIFIDEVDALCGPRGEGESEASRRIKTELLVQMNGVGNDSQGVLVLGATNIPWQLDAAVRRRFERRIYIALPDVEARTRMFEINIGDVPCECTPHDYRTLAEMTDGYSGHDVAVVVRDALMQPIRKIQQATHFKPVIDETDGKEKLTPCSPGDEGAREMNWMDLATDELKEPPLTIKDFIKAIKNNRPTVNEADIAQHVKFTEDFGQEGN
UniProt ID: Q5BJD5
Variant: I -> L at position 266-266
Variant annotation: reduced infection with flaviviruses such as Yellow fever virus, Zika virus and Dengue virus; no effect on mobilization of neutral lipids from lipid droplets
Protein function: (Microbial infection) Critical host factor required for infection by human coronaviruses SARS-CoV-2, HCoV-OC43, HCoV-NL63, and HCoV-229E, as well as all flaviviruses tested such as Zika virus and Yellow fever virus . Required post-entry of the virus to facilitate the ER membrane remodeling necessary to form replication organelles .
Reference sequence:
MAKGRVAERSQLGAHHTTPVGDGAAGTRGLAAPGSRDHQKEKSWVEAGSARMSLLILVSIFLSAAFVMFLVYKNFPQLSEEERVNMKVPRDMDDAKALGKVLSKYKDTFYVQVLVAYFATYIFLQTFAIPGSIFLSILSGFLYPFPLALFLVCLCSGLGASFCYMLSYLVGRPVVYKYLTEKAVKWSQQVERHREHLINYIIFLRITPFLPNWFINITSPVINVPLKVFFIGTFLGVAPPSFVAIKAGTTLYQLTTAGEAVSWNSIFILMILAVLSILPAIFQKKLKQKFE
UniProt ID: Q5BJD5
Variant: I -> V at position 266-266
Variant annotation: reduced infection with Yellow fever virus, Zika virus and Dengue virus; no effect on mobilization of neutral lipids from lipid droplets
Protein function: (Microbial infection) Critical host factor required for infection by human coronaviruses SARS-CoV-2, HCoV-OC43, HCoV-NL63, and HCoV-229E, as well as all flaviviruses tested such as Zika virus and Yellow fever virus . Required post-entry of the virus to facilitate the ER membrane remodeling necessary to form replication organelles .
Reference sequence:
MAKGRVAERSQLGAHHTTPVGDGAAGTRGLAAPGSRDHQKEKSWVEAGSARMSLLILVSIFLSAAFVMFLVYKNFPQLSEEERVNMKVPRDMDDAKALGKVLSKYKDTFYVQVLVAYFATYIFLQTFAIPGSIFLSILSGFLYPFPLALFLVCLCSGLGASFCYMLSYLVGRPVVYKYLTEKAVKWSQQVERHREHLINYIIFLRITPFLPNWFINITSPVINVPLKVFFIGTFLGVAPPSFVAIKAGTTLYQLTTAGEAVSWNSIFILMILAVLSILPAIFQKKLKQKFE
UniProt ID: Q5BJF6
Variant: T -> S at position 710-710
Variant annotation: in dbSNP:rs16930426
Protein function: Seems to be a major component of sperm tail outer dense fibers (ODF). ODFs are filamentous structures located on the outside of the axoneme in the midpiece and principal piece of the mammalian sperm tail and may help to maintain the passive elastic structures and elastic recoil of the sperm tail. May have a modulating influence on sperm motility. Functions as a general scaffold protein that is specifically localized at the distal/subdistal appendages of mother centrioles. Component of the centrosome matrix required for the localization of PLK1 and NIN to the centrosomes. Required for the formation and/or maintenance of normal CETN1 assembly.
Reference sequence:
MSASSSGGSPRFPSCGKNGVTSLTQKKVLRAPCGAPSVTVTKSHKRGMKGDTVNVRRSVRVKTKVPWMPPGKSSARPVGCKWENPPHCLEITPPSSEKLVSVMRLSDLSTEDDDSGHCKMNRYDKKIDSLMNAVGCLKSEVKMQKGERQMAKRFLEERKEELEEVAHELAETEHENTVLRHNIERMKEEKDFTILQKKHLQQEKECLMSKLVEAEMDGAAAAKQVMALKDTIGKLKTEKQMTCTDINTLTRQKELLLQKLSTFEETNRTLRDLLREQHCKEDSERLMEQQGALLKRLAEADSEKARLLLLLQDKDKEVEELLQEIQCEKAQAKTASELSKSMESMRGHLQAQLRSKEAENSRLCMQIKNLERSGNQHKAEVEAIMEQLKELKQKGDRDKESLKKAIRAQKERAEKSEEYAEQLHVQLADKDLYVAEALSTLESWRSRYNQVVKEKGDLELEIIVLNDRVTDLVNQQQTLEEKMREDRDSLVERLHRQTAEYSAFKLENERLKASFAPMEDKLNQAHLEVQQLKASVKNYEGMIDNYKSQVMKTRLEADEVAAQLERCDKENKILKDEMNKEIEAARRQFQSQLADLQQLPDILKITEAKLAECQDQLQGYERKNIDLTAIISDLRSRIEHQGDKLEMAREKHQASQKENKQLSLKVDELERKLEATSAQNIEFLQVIAKREEAIHQSQLRLEEKTRECGTLARQLESAIEDARRQVEQTKEHALSKERAAQNKILDLETQLSRTKTELSQLRRSRDDADRRYQSRLQDLKDRLEQSESTNRSMQNYVQFLKSSYANVFGDGPYSTFLTSSPIRSRSPPA
UniProt ID: Q5C9Z4
Variant: R -> G at position 24-24
Variant annotation: in dbSNP:rs6969990
Protein function: Plays a role in targeting PPP1CA to the nucleolus.
Reference sequence:
MAASRSAGEAGPGGSQGRVVRMKRRGGRGPRRGPAGGGEKALKRLKLAVEEFVHATSEGEAPGGCEGRGAPVSFRPGGRKSRKELRKEKRHLRKARRLQRTAGPEQGPGLGGRSGAEEASGHRQDTEERARPAPSRDPSPPRKPRPSRVKAKATAATAKTRPSAAATAAARKRALLAANEEEDREIRKLERCLGLNKRKKKDGSSSVPLSFARDGLDYILGALESGKNSGLYDSSGEEEEDAGQTLPESDLESDSQDESEEEEEGDVEKEKKAQEAEAQSEDDDEDTEEEQGEEKEKGAQEKRRGKRVRFAEDEEKSENSSEDGDITDKSLCGSGEKYIPPHVRQAEETVDFKKKEELERLKKHVKGLLNRLSEPNMASISGQLEELYMAHSRKDMNDTLTSALMGACVTASAMPSRLMMEHVLLVSILHHTVGIEVGAHFLEAVVRKFDAIYKYGSEGKECDNLFTVIAHLYNFHVVQSLLIFDILKKLIGTFTEKDIELILLMLKNVGFSLRKDDALSLKELITEAQTKASGAGSEFQDQTRIRFMLETMLALKNNDMRKIPGYDPEPVEKLRKLQRALVRNAGSGSETQLRVSWDSVLSAEQTGRWWIVGSAWSGAPMIDNSHHTHLQKQLVGTVSSKILELARKQRMNTDIRRNIFCTIMTSEDFLDAFEKLLKLGLKDQQEREIIHVLMDCCLQEKTYNPFYAFLASKFCEYERRFQMTFQFSIWDKFRDLENLPATNFSNLVHLVAHLLKTKSLSLSILKVVEFSELDKPRVRFLRKVLSILLMETEVEDLSLIFTRVSDNPKLGVLREGLKLFISHFLLKNAQAHRSADEANVLREKADLATKCLQGKASLRM
UniProt ID: Q5C9Z4
Variant: H -> P at position 122-122
Variant annotation: in dbSNP:rs6952214
Protein function: Plays a role in targeting PPP1CA to the nucleolus.
Reference sequence:
MAASRSAGEAGPGGSQGRVVRMKRRGGRGPRRGPAGGGEKALKRLKLAVEEFVHATSEGEAPGGCEGRGAPVSFRPGGRKSRKELRKEKRHLRKARRLQRTAGPEQGPGLGGRSGAEEASGHRQDTEERARPAPSRDPSPPRKPRPSRVKAKATAATAKTRPSAAATAAARKRALLAANEEEDREIRKLERCLGLNKRKKKDGSSSVPLSFARDGLDYILGALESGKNSGLYDSSGEEEEDAGQTLPESDLESDSQDESEEEEEGDVEKEKKAQEAEAQSEDDDEDTEEEQGEEKEKGAQEKRRGKRVRFAEDEEKSENSSEDGDITDKSLCGSGEKYIPPHVRQAEETVDFKKKEELERLKKHVKGLLNRLSEPNMASISGQLEELYMAHSRKDMNDTLTSALMGACVTASAMPSRLMMEHVLLVSILHHTVGIEVGAHFLEAVVRKFDAIYKYGSEGKECDNLFTVIAHLYNFHVVQSLLIFDILKKLIGTFTEKDIELILLMLKNVGFSLRKDDALSLKELITEAQTKASGAGSEFQDQTRIRFMLETMLALKNNDMRKIPGYDPEPVEKLRKLQRALVRNAGSGSETQLRVSWDSVLSAEQTGRWWIVGSAWSGAPMIDNSHHTHLQKQLVGTVSSKILELARKQRMNTDIRRNIFCTIMTSEDFLDAFEKLLKLGLKDQQEREIIHVLMDCCLQEKTYNPFYAFLASKFCEYERRFQMTFQFSIWDKFRDLENLPATNFSNLVHLVAHLLKTKSLSLSILKVVEFSELDKPRVRFLRKVLSILLMETEVEDLSLIFTRVSDNPKLGVLREGLKLFISHFLLKNAQAHRSADEANVLREKADLATKCLQGKASLRM
UniProt ID: Q5C9Z4
Variant: M -> V at position 723-723
Variant annotation: in dbSNP:rs12919
Protein function: Plays a role in targeting PPP1CA to the nucleolus.
Reference sequence:
MAASRSAGEAGPGGSQGRVVRMKRRGGRGPRRGPAGGGEKALKRLKLAVEEFVHATSEGEAPGGCEGRGAPVSFRPGGRKSRKELRKEKRHLRKARRLQRTAGPEQGPGLGGRSGAEEASGHRQDTEERARPAPSRDPSPPRKPRPSRVKAKATAATAKTRPSAAATAAARKRALLAANEEEDREIRKLERCLGLNKRKKKDGSSSVPLSFARDGLDYILGALESGKNSGLYDSSGEEEEDAGQTLPESDLESDSQDESEEEEEGDVEKEKKAQEAEAQSEDDDEDTEEEQGEEKEKGAQEKRRGKRVRFAEDEEKSENSSEDGDITDKSLCGSGEKYIPPHVRQAEETVDFKKKEELERLKKHVKGLLNRLSEPNMASISGQLEELYMAHSRKDMNDTLTSALMGACVTASAMPSRLMMEHVLLVSILHHTVGIEVGAHFLEAVVRKFDAIYKYGSEGKECDNLFTVIAHLYNFHVVQSLLIFDILKKLIGTFTEKDIELILLMLKNVGFSLRKDDALSLKELITEAQTKASGAGSEFQDQTRIRFMLETMLALKNNDMRKIPGYDPEPVEKLRKLQRALVRNAGSGSETQLRVSWDSVLSAEQTGRWWIVGSAWSGAPMIDNSHHTHLQKQLVGTVSSKILELARKQRMNTDIRRNIFCTIMTSEDFLDAFEKLLKLGLKDQQEREIIHVLMDCCLQEKTYNPFYAFLASKFCEYERRFQMTFQFSIWDKFRDLENLPATNFSNLVHLVAHLLKTKSLSLSILKVVEFSELDKPRVRFLRKVLSILLMETEVEDLSLIFTRVSDNPKLGVLREGLKLFISHFLLKNAQAHRSADEANVLREKADLATKCLQGKASLRM
UniProt ID: Q5C9Z4
Variant: R -> H at position 779-779
Variant annotation: in dbSNP:rs2302445
Protein function: Plays a role in targeting PPP1CA to the nucleolus.
Reference sequence:
MAASRSAGEAGPGGSQGRVVRMKRRGGRGPRRGPAGGGEKALKRLKLAVEEFVHATSEGEAPGGCEGRGAPVSFRPGGRKSRKELRKEKRHLRKARRLQRTAGPEQGPGLGGRSGAEEASGHRQDTEERARPAPSRDPSPPRKPRPSRVKAKATAATAKTRPSAAATAAARKRALLAANEEEDREIRKLERCLGLNKRKKKDGSSSVPLSFARDGLDYILGALESGKNSGLYDSSGEEEEDAGQTLPESDLESDSQDESEEEEEGDVEKEKKAQEAEAQSEDDDEDTEEEQGEEKEKGAQEKRRGKRVRFAEDEEKSENSSEDGDITDKSLCGSGEKYIPPHVRQAEETVDFKKKEELERLKKHVKGLLNRLSEPNMASISGQLEELYMAHSRKDMNDTLTSALMGACVTASAMPSRLMMEHVLLVSILHHTVGIEVGAHFLEAVVRKFDAIYKYGSEGKECDNLFTVIAHLYNFHVVQSLLIFDILKKLIGTFTEKDIELILLMLKNVGFSLRKDDALSLKELITEAQTKASGAGSEFQDQTRIRFMLETMLALKNNDMRKIPGYDPEPVEKLRKLQRALVRNAGSGSETQLRVSWDSVLSAEQTGRWWIVGSAWSGAPMIDNSHHTHLQKQLVGTVSSKILELARKQRMNTDIRRNIFCTIMTSEDFLDAFEKLLKLGLKDQQEREIIHVLMDCCLQEKTYNPFYAFLASKFCEYERRFQMTFQFSIWDKFRDLENLPATNFSNLVHLVAHLLKTKSLSLSILKVVEFSELDKPRVRFLRKVLSILLMETEVEDLSLIFTRVSDNPKLGVLREGLKLFISHFLLKNAQAHRSADEANVLREKADLATKCLQGKASLRM
UniProt ID: Q5C9Z4
Variant: V -> L at position 804-804
Variant annotation: in dbSNP:rs2302443
Protein function: Plays a role in targeting PPP1CA to the nucleolus.
Reference sequence:
MAASRSAGEAGPGGSQGRVVRMKRRGGRGPRRGPAGGGEKALKRLKLAVEEFVHATSEGEAPGGCEGRGAPVSFRPGGRKSRKELRKEKRHLRKARRLQRTAGPEQGPGLGGRSGAEEASGHRQDTEERARPAPSRDPSPPRKPRPSRVKAKATAATAKTRPSAAATAAARKRALLAANEEEDREIRKLERCLGLNKRKKKDGSSSVPLSFARDGLDYILGALESGKNSGLYDSSGEEEEDAGQTLPESDLESDSQDESEEEEEGDVEKEKKAQEAEAQSEDDDEDTEEEQGEEKEKGAQEKRRGKRVRFAEDEEKSENSSEDGDITDKSLCGSGEKYIPPHVRQAEETVDFKKKEELERLKKHVKGLLNRLSEPNMASISGQLEELYMAHSRKDMNDTLTSALMGACVTASAMPSRLMMEHVLLVSILHHTVGIEVGAHFLEAVVRKFDAIYKYGSEGKECDNLFTVIAHLYNFHVVQSLLIFDILKKLIGTFTEKDIELILLMLKNVGFSLRKDDALSLKELITEAQTKASGAGSEFQDQTRIRFMLETMLALKNNDMRKIPGYDPEPVEKLRKLQRALVRNAGSGSETQLRVSWDSVLSAEQTGRWWIVGSAWSGAPMIDNSHHTHLQKQLVGTVSSKILELARKQRMNTDIRRNIFCTIMTSEDFLDAFEKLLKLGLKDQQEREIIHVLMDCCLQEKTYNPFYAFLASKFCEYERRFQMTFQFSIWDKFRDLENLPATNFSNLVHLVAHLLKTKSLSLSILKVVEFSELDKPRVRFLRKVLSILLMETEVEDLSLIFTRVSDNPKLGVLREGLKLFISHFLLKNAQAHRSADEANVLREKADLATKCLQGKASLRM
UniProt ID: Q5C9Z4
Variant: V -> M at position 812-812
Variant annotation: in dbSNP:rs12919
Protein function: Plays a role in targeting PPP1CA to the nucleolus.
Reference sequence:
MAASRSAGEAGPGGSQGRVVRMKRRGGRGPRRGPAGGGEKALKRLKLAVEEFVHATSEGEAPGGCEGRGAPVSFRPGGRKSRKELRKEKRHLRKARRLQRTAGPEQGPGLGGRSGAEEASGHRQDTEERARPAPSRDPSPPRKPRPSRVKAKATAATAKTRPSAAATAAARKRALLAANEEEDREIRKLERCLGLNKRKKKDGSSSVPLSFARDGLDYILGALESGKNSGLYDSSGEEEEDAGQTLPESDLESDSQDESEEEEEGDVEKEKKAQEAEAQSEDDDEDTEEEQGEEKEKGAQEKRRGKRVRFAEDEEKSENSSEDGDITDKSLCGSGEKYIPPHVRQAEETVDFKKKEELERLKKHVKGLLNRLSEPNMASISGQLEELYMAHSRKDMNDTLTSALMGACVTASAMPSRLMMEHVLLVSILHHTVGIEVGAHFLEAVVRKFDAIYKYGSEGKECDNLFTVIAHLYNFHVVQSLLIFDILKKLIGTFTEKDIELILLMLKNVGFSLRKDDALSLKELITEAQTKASGAGSEFQDQTRIRFMLETMLALKNNDMRKIPGYDPEPVEKLRKLQRALVRNAGSGSETQLRVSWDSVLSAEQTGRWWIVGSAWSGAPMIDNSHHTHLQKQLVGTVSSKILELARKQRMNTDIRRNIFCTIMTSEDFLDAFEKLLKLGLKDQQEREIIHVLMDCCLQEKTYNPFYAFLASKFCEYERRFQMTFQFSIWDKFRDLENLPATNFSNLVHLVAHLLKTKSLSLSILKVVEFSELDKPRVRFLRKVLSILLMETEVEDLSLIFTRVSDNPKLGVLREGLKLFISHFLLKNAQAHRSADEANVLREKADLATKCLQGKASLRM
UniProt ID: Q5CZA5
Variant: G -> E at position 68-68
Variant annotation: in dbSNP:rs2014572
Protein function: May be involved in transcriptional regulation.
Reference sequence:
MAMALTDPAQVSVTFDDVAVTFTQEEWGQLDLAQRTLYQEVMLENCGLLVSLGCPVPRPELIYHLEHGQEPWTRKEDLSQGTCPGDKGKPKSTEPTTCELALSEGISFWGQLTQGASGDSQLGQPKDQDGFSEMQGERLRPGLDSQKEKLPGKMSPKHDGLGTADSVCSRIIQDRVSLGDDVHDCDSHGSGKNPVIQEEENIFKCNECEKVFNKKRLLARHERIHSGVKPYECTECGKTFSKSTYLLQHHMVHTGEKPYKCMECGKAFNRKSHLTQHQRIHSGEKPYKCSECGKAFTHRSTFVLHNRSHTGEKPFVCKECGKAFRDRPGFIRHYIIHSGENPYECFECGKVFKHRSYLMWHQQTHTGEKPYECSECGKAFCESAALIHHYVIHTGEKPFECLECGKAFNHRSYLKRHQRIHTGEKPYVCSECGKAFTHCSTFILHKRAHTGEKPFECKECGKAFSNRADLIRHFSIHTGEKPYECMECGKAFNRRSGLTRHQRIHSGEKPYECIECGKTFCWSTNLIRHSIIHTGEKPYECSECGKAFSRSSSLTQHQRMHTGRNPISVTDVGRPFTSGQTSVNIQELLLGKNFLNVTTEENLLQEEASYMASDRTYQRETPQVSSL
UniProt ID: Q5D0E6
Variant: Q -> R at position 299-299
Variant annotation: in dbSNP:rs3087866
Protein function: Involved in tRNA methylation. Facilitates the recognition and targeting of tRNA(Arg)(CCU) and tRNA(Arg)(UCU) substrates for N(3)-methylcytidine modification by METTL2A and METTL2B.
Reference sequence:
MATRRLGVGETLGALNAALGPGGPVWIKETRTRHLRSRDFLAPHRALQARFDDGQVPEHLLHALACLQGPGVAPVLRCAPTPAGLSLQLQRSAVFERVLSAVAAYATPASPASLGQRVLLHCPALRSSPCALRLSQLRTVLVADHLARALRAHGVCVRLVPAVRDPHMLTFLQQLRVDWPAASERASSHTLRSHALEELTSANDGRTLSPGILGRLCLKELVEEQGRTAGYDPNLDNCLVTEDLLSVLAELQEALWHWPEDSHPGLAGASDTGTGGCLVVHVVSCEEEFQQQKLDLLWQKLVDKAPLRQKHLICGPVKVAGAPGTLMTAPEYYEFRHTQVCKASALKHGGDLAQDPAWTEIFGVLSVATIKFEMLSTAPQSQLFLALADSSISTKGTKSGTFVMYNCARLATLFESYKCSMEQGLYPTFPPVSSLDFSLLHDEGEWLLLFNSILPFPDLLSRTAVLDCTAPGLHIAVRTEMICKFLVQLSMDFSSYYNRVHILGEPRPHLFGQMFVRLQLLRAVREVLHTGLAMLGLPPLSHI