sujigwak/NVAR huggingface dataset:
UniProt ID: B2RXH4
Variant: S -> T at position 302-302
Variant annotation: in dbSNP:rs78162678
Protein function: Specifically required during spermatogenesis to promote expression of piRNA precursors. The piRNA metabolic process mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons, which is essential for the germline integrity. Acts by facilitating transcription elongation at piRNA loci during pachytene.
Reference sequence:
MCSPASPKILYRNPRFLRLAFLQLHHQQQSDVFCDVLLQAEGEAVPAHCCILSACSPFFTERLERERPAQGGKVVLELGGLKISTLRKLVDFLYTSEMEVSQEEAQDVLSAARQLRVSELESLQLEGGKLVKAPQGRRLNRECLQPTSAAPISARVVTPSHHPHTPLPTNQTPCPLGAIRLKSLGKEEGPQENNRQNADNLSGTLLLKRKARACPTPQEKNSSPSSHSQEPRENKNDTALDPTVLSPPSLYPSVDKHLLPRKIRLSRSKPSPGICTSKPSSILSGSSSVPATPGRRLWRQRSVNKETPEDKPKPGRASPLQSTPNPSGLGKTGGSRKRSPEVRAPNSDSAEEGQVGRVKLRKIVNGTCWEVVQETPLKNTQDSPQIPDPGGDFQEPSGTQPFSSNEQEMSPTRTELCQDSPMCTKLQDILVSASHSPDHPVVKSEFESSPELVEKEPMLAIDCREPYAFDTALLEQPCEAEEYRITSAAATSELEEILDFMLCGSDIEPPIGSLESPGAEGCRTPTYHLTETGKNWIEGEEWCLPDMELWPRELTELEKEPAGENRGPTELLSPLVMPSEVSEVLSVGGRWTPDLEITSSQPLDGQEDKLLHVSSLDTPQRSYGDLSPPCSNWVETGLEVSLTTDELLYPSPKAGKEVSGHSELLGSLPASSEEEEIDVVDWTAEGRLVPTTVPSVWPDPSSESETEVDILT
UniProt ID: B2RXH4
Variant: E -> G at position 352-352
Variant annotation: in dbSNP:rs201912857
Protein function: Specifically required during spermatogenesis to promote expression of piRNA precursors. The piRNA metabolic process mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons, which is essential for the germline integrity. Acts by facilitating transcription elongation at piRNA loci during pachytene.
Reference sequence:
MCSPASPKILYRNPRFLRLAFLQLHHQQQSDVFCDVLLQAEGEAVPAHCCILSACSPFFTERLERERPAQGGKVVLELGGLKISTLRKLVDFLYTSEMEVSQEEAQDVLSAARQLRVSELESLQLEGGKLVKAPQGRRLNRECLQPTSAAPISARVVTPSHHPHTPLPTNQTPCPLGAIRLKSLGKEEGPQENNRQNADNLSGTLLLKRKARACPTPQEKNSSPSSHSQEPRENKNDTALDPTVLSPPSLYPSVDKHLLPRKIRLSRSKPSPGICTSKPSSILSGSSSVPATPGRRLWRQRSVNKETPEDKPKPGRASPLQSTPNPSGLGKTGGSRKRSPEVRAPNSDSAEEGQVGRVKLRKIVNGTCWEVVQETPLKNTQDSPQIPDPGGDFQEPSGTQPFSSNEQEMSPTRTELCQDSPMCTKLQDILVSASHSPDHPVVKSEFESSPELVEKEPMLAIDCREPYAFDTALLEQPCEAEEYRITSAAATSELEEILDFMLCGSDIEPPIGSLESPGAEGCRTPTYHLTETGKNWIEGEEWCLPDMELWPRELTELEKEPAGENRGPTELLSPLVMPSEVSEVLSVGGRWTPDLEITSSQPLDGQEDKLLHVSSLDTPQRSYGDLSPPCSNWVETGLEVSLTTDELLYPSPKAGKEVSGHSELLGSLPASSEEEEIDVVDWTAEGRLVPTTVPSVWPDPSSESETEVDILT
UniProt ID: B4NZY8
Variant: F -> L at position 10-10
Variant annotation: in strain: Tai18
Protein function: Mediates response to the active Hedgehog (Hh) protein signal in embryos, functioning upstream or at the level of patched (ptc).
Reference sequence:
MTLLTSSLLFFSLLTSRLEAIPVLEKSPAHPAHSAHPAHPSHPSPGVRILRAPESLVAPLGDEVVLECETSLQPERFEWSHRSSRSSGAGFKYLRTGTAKANVSQEAAISRLKVLVRQDTLGEYRCVGWFGPLVVTSTIARLELASTSLLGGQESESPLQWRVSAGNSVLWPCGKQVKSNPSASWSYYRNGVEIKPEFIGTNGNIFLSNVSSESSGSYSCQATNPASGERIQLTGSLQLQVTPEQRSQSKSPHLLNGQPNSQEITIREGSSLLLLCPGVGSPPPTVVWSSPDVVGAVKNKRSKVIGHALEISNTRVQDAGTYICFQDNGVRPVLEHYIKVHVEQPPQIVRPPWADLTNEGDRLKLECEATGVPTPEIYWLLNGHSSLDDTEAELSNNFLILHSVLKRHAGYVQCFARNRLGEHSAGTLLQVNPKQIQEPRESGGTHRPKPNQGSKQKQMYPPTPPNVTRLSDESVMLRWMVPRNDGLPIVIFKVQYRMVGKRKNWQTTNDNIPYGKPKWNSELGKSFTASVTDLKPQHTYRFRILAVYSNNDNKESNTSAKFYLQPGAALDPMPVPELLEIEEYSETAVVLHWSLASDADEHLITGYYAYYRPSSSAGEYFKATIEGAHARSFKIAPLETATMYEFKLQSFSAVSASEFSALKQGRTQRPKTSTTEEPTLQMGDRDTTTPSHNETFNMSPMLTGTIGGGAVLILLLISTCLCVCRRRSSRSRGNNPNKPRMAELRDDFVPLGNCSPTKQRQRTRHIHITLNPLAQQQQQALEEKNDTDQDAPYYQRPSSYDYDPGLRRMSSSSLRRSQRTLERAGGSNGSNNGNNNNLNQSAEAGPVENPGKPGRVLMKRPRLSSRSENLSSGSLNSVGV
UniProt ID: B4NZY8
Variant: K -> Q at position 175-175
Variant annotation: in strain: Tai18
Protein function: Mediates response to the active Hedgehog (Hh) protein signal in embryos, functioning upstream or at the level of patched (ptc).
Reference sequence:
MTLLTSSLLFFSLLTSRLEAIPVLEKSPAHPAHSAHPAHPSHPSPGVRILRAPESLVAPLGDEVVLECETSLQPERFEWSHRSSRSSGAGFKYLRTGTAKANVSQEAAISRLKVLVRQDTLGEYRCVGWFGPLVVTSTIARLELASTSLLGGQESESPLQWRVSAGNSVLWPCGKQVKSNPSASWSYYRNGVEIKPEFIGTNGNIFLSNVSSESSGSYSCQATNPASGERIQLTGSLQLQVTPEQRSQSKSPHLLNGQPNSQEITIREGSSLLLLCPGVGSPPPTVVWSSPDVVGAVKNKRSKVIGHALEISNTRVQDAGTYICFQDNGVRPVLEHYIKVHVEQPPQIVRPPWADLTNEGDRLKLECEATGVPTPEIYWLLNGHSSLDDTEAELSNNFLILHSVLKRHAGYVQCFARNRLGEHSAGTLLQVNPKQIQEPRESGGTHRPKPNQGSKQKQMYPPTPPNVTRLSDESVMLRWMVPRNDGLPIVIFKVQYRMVGKRKNWQTTNDNIPYGKPKWNSELGKSFTASVTDLKPQHTYRFRILAVYSNNDNKESNTSAKFYLQPGAALDPMPVPELLEIEEYSETAVVLHWSLASDADEHLITGYYAYYRPSSSAGEYFKATIEGAHARSFKIAPLETATMYEFKLQSFSAVSASEFSALKQGRTQRPKTSTTEEPTLQMGDRDTTTPSHNETFNMSPMLTGTIGGGAVLILLLISTCLCVCRRRSSRSRGNNPNKPRMAELRDDFVPLGNCSPTKQRQRTRHIHITLNPLAQQQQQALEEKNDTDQDAPYYQRPSSYDYDPGLRRMSSSSLRRSQRTLERAGGSNGSNNGNNNNLNQSAEAGPVENPGKPGRVLMKRPRLSSRSENLSSGSLNSVGV
UniProt ID: B4NZY8
Variant: L -> M at position 806-806
Variant annotation: in strain: Tai18
Protein function: Mediates response to the active Hedgehog (Hh) protein signal in embryos, functioning upstream or at the level of patched (ptc).
Reference sequence:
MTLLTSSLLFFSLLTSRLEAIPVLEKSPAHPAHSAHPAHPSHPSPGVRILRAPESLVAPLGDEVVLECETSLQPERFEWSHRSSRSSGAGFKYLRTGTAKANVSQEAAISRLKVLVRQDTLGEYRCVGWFGPLVVTSTIARLELASTSLLGGQESESPLQWRVSAGNSVLWPCGKQVKSNPSASWSYYRNGVEIKPEFIGTNGNIFLSNVSSESSGSYSCQATNPASGERIQLTGSLQLQVTPEQRSQSKSPHLLNGQPNSQEITIREGSSLLLLCPGVGSPPPTVVWSSPDVVGAVKNKRSKVIGHALEISNTRVQDAGTYICFQDNGVRPVLEHYIKVHVEQPPQIVRPPWADLTNEGDRLKLECEATGVPTPEIYWLLNGHSSLDDTEAELSNNFLILHSVLKRHAGYVQCFARNRLGEHSAGTLLQVNPKQIQEPRESGGTHRPKPNQGSKQKQMYPPTPPNVTRLSDESVMLRWMVPRNDGLPIVIFKVQYRMVGKRKNWQTTNDNIPYGKPKWNSELGKSFTASVTDLKPQHTYRFRILAVYSNNDNKESNTSAKFYLQPGAALDPMPVPELLEIEEYSETAVVLHWSLASDADEHLITGYYAYYRPSSSAGEYFKATIEGAHARSFKIAPLETATMYEFKLQSFSAVSASEFSALKQGRTQRPKTSTTEEPTLQMGDRDTTTPSHNETFNMSPMLTGTIGGGAVLILLLISTCLCVCRRRSSRSRGNNPNKPRMAELRDDFVPLGNCSPTKQRQRTRHIHITLNPLAQQQQQALEEKNDTDQDAPYYQRPSSYDYDPGLRRMSSSSLRRSQRTLERAGGSNGSNNGNNNNLNQSAEAGPVENPGKPGRVLMKRPRLSSRSENLSSGSLNSVGV
UniProt ID: B4NZY8
Variant: L -> V at position 863-863
Variant annotation: in strain: Tai18
Protein function: Mediates response to the active Hedgehog (Hh) protein signal in embryos, functioning upstream or at the level of patched (ptc).
Reference sequence:
MTLLTSSLLFFSLLTSRLEAIPVLEKSPAHPAHSAHPAHPSHPSPGVRILRAPESLVAPLGDEVVLECETSLQPERFEWSHRSSRSSGAGFKYLRTGTAKANVSQEAAISRLKVLVRQDTLGEYRCVGWFGPLVVTSTIARLELASTSLLGGQESESPLQWRVSAGNSVLWPCGKQVKSNPSASWSYYRNGVEIKPEFIGTNGNIFLSNVSSESSGSYSCQATNPASGERIQLTGSLQLQVTPEQRSQSKSPHLLNGQPNSQEITIREGSSLLLLCPGVGSPPPTVVWSSPDVVGAVKNKRSKVIGHALEISNTRVQDAGTYICFQDNGVRPVLEHYIKVHVEQPPQIVRPPWADLTNEGDRLKLECEATGVPTPEIYWLLNGHSSLDDTEAELSNNFLILHSVLKRHAGYVQCFARNRLGEHSAGTLLQVNPKQIQEPRESGGTHRPKPNQGSKQKQMYPPTPPNVTRLSDESVMLRWMVPRNDGLPIVIFKVQYRMVGKRKNWQTTNDNIPYGKPKWNSELGKSFTASVTDLKPQHTYRFRILAVYSNNDNKESNTSAKFYLQPGAALDPMPVPELLEIEEYSETAVVLHWSLASDADEHLITGYYAYYRPSSSAGEYFKATIEGAHARSFKIAPLETATMYEFKLQSFSAVSASEFSALKQGRTQRPKTSTTEEPTLQMGDRDTTTPSHNETFNMSPMLTGTIGGGAVLILLLISTCLCVCRRRSSRSRGNNPNKPRMAELRDDFVPLGNCSPTKQRQRTRHIHITLNPLAQQQQQALEEKNDTDQDAPYYQRPSSYDYDPGLRRMSSSSLRRSQRTLERAGGSNGSNNGNNNNLNQSAEAGPVENPGKPGRVLMKRPRLSSRSENLSSGSLNSVGV
UniProt ID: B4QT24
Variant: Q -> L at position 112-112
Variant annotation: in strain: North Carolina 29
Protein function: Binds to chromosome ends in a sequence-dependent manner and is required for telomere capping.
Reference sequence:
MSGTQMSAFLRQYLADEDKKIRAQFKESDPNNKLILWMHEKTRITEEDLARPYTEDEVKELCLRTKVKVDMTAWNCLWEAKKRFEAKGRFVNKSERFINRMYMKAVRKKMVQPYPEEFVAQRREVVAAETKKHNISRLDRWRRKKTQNLSAQESSPARGAHASFIDAMQTNEVQVNANLSSVSQVNFQVEAMARPAVSSSDLSGIGDDEDEHQQSEFQDEHINCPETAINENSVRCDPINSGRMRTGCINSQGNNNTESDPDYYMFGTQLSSLLRPTSTQEPDDQVNCPETEMNESWVRCDQINSESMSIGPSIDSEGTITFQNSESEPIDVDSIA
UniProt ID: B4QT24
Variant: R -> Q at position 142-142
Variant annotation: in strain: North Carolina 19, Zimbabwe 4 and Zimbabwe 70
Protein function: Binds to chromosome ends in a sequence-dependent manner and is required for telomere capping.
Reference sequence:
MSGTQMSAFLRQYLADEDKKIRAQFKESDPNNKLILWMHEKTRITEEDLARPYTEDEVKELCLRTKVKVDMTAWNCLWEAKKRFEAKGRFVNKSERFINRMYMKAVRKKMVQPYPEEFVAQRREVVAAETKKHNISRLDRWRRKKTQNLSAQESSPARGAHASFIDAMQTNEVQVNANLSSVSQVNFQVEAMARPAVSSSDLSGIGDDEDEHQQSEFQDEHINCPETAINENSVRCDPINSGRMRTGCINSQGNNNTESDPDYYMFGTQLSSLLRPTSTQEPDDQVNCPETEMNESWVRCDQINSESMSIGPSIDSEGTITFQNSESEPIDVDSIA
UniProt ID: B4QT24
Variant: K -> R at position 145-145
Variant annotation: in strain: Zimbabwe 4 and Zimbabwe 70
Protein function: Binds to chromosome ends in a sequence-dependent manner and is required for telomere capping.
Reference sequence:
MSGTQMSAFLRQYLADEDKKIRAQFKESDPNNKLILWMHEKTRITEEDLARPYTEDEVKELCLRTKVKVDMTAWNCLWEAKKRFEAKGRFVNKSERFINRMYMKAVRKKMVQPYPEEFVAQRREVVAAETKKHNISRLDRWRRKKTQNLSAQESSPARGAHASFIDAMQTNEVQVNANLSSVSQVNFQVEAMARPAVSSSDLSGIGDDEDEHQQSEFQDEHINCPETAINENSVRCDPINSGRMRTGCINSQGNNNTESDPDYYMFGTQLSSLLRPTSTQEPDDQVNCPETEMNESWVRCDQINSESMSIGPSIDSEGTITFQNSESEPIDVDSIA
UniProt ID: B4QT24
Variant: T -> N at position 146-146
Variant annotation: in strain: Colombia 32
Protein function: Binds to chromosome ends in a sequence-dependent manner and is required for telomere capping.
Reference sequence:
MSGTQMSAFLRQYLADEDKKIRAQFKESDPNNKLILWMHEKTRITEEDLARPYTEDEVKELCLRTKVKVDMTAWNCLWEAKKRFEAKGRFVNKSERFINRMYMKAVRKKMVQPYPEEFVAQRREVVAAETKKHNISRLDRWRRKKTQNLSAQESSPARGAHASFIDAMQTNEVQVNANLSSVSQVNFQVEAMARPAVSSSDLSGIGDDEDEHQQSEFQDEHINCPETAINENSVRCDPINSGRMRTGCINSQGNNNTESDPDYYMFGTQLSSLLRPTSTQEPDDQVNCPETEMNESWVRCDQINSESMSIGPSIDSEGTITFQNSESEPIDVDSIA
UniProt ID: B4QT24
Variant: P -> S at position 156-156
Variant annotation: in strain: North Carolina 19, Mexico 12 and Zimbabwe 4
Protein function: Binds to chromosome ends in a sequence-dependent manner and is required for telomere capping.
Reference sequence:
MSGTQMSAFLRQYLADEDKKIRAQFKESDPNNKLILWMHEKTRITEEDLARPYTEDEVKELCLRTKVKVDMTAWNCLWEAKKRFEAKGRFVNKSERFINRMYMKAVRKKMVQPYPEEFVAQRREVVAAETKKHNISRLDRWRRKKTQNLSAQESSPARGAHASFIDAMQTNEVQVNANLSSVSQVNFQVEAMARPAVSSSDLSGIGDDEDEHQQSEFQDEHINCPETAINENSVRCDPINSGRMRTGCINSQGNNNTESDPDYYMFGTQLSSLLRPTSTQEPDDQVNCPETEMNESWVRCDQINSESMSIGPSIDSEGTITFQNSESEPIDVDSIA
UniProt ID: B4QT24
Variant: N -> Q at position 171-171
Variant annotation: in strain: Zimbabwe 70 and Zimbabwe 79
Protein function: Binds to chromosome ends in a sequence-dependent manner and is required for telomere capping.
Reference sequence:
MSGTQMSAFLRQYLADEDKKIRAQFKESDPNNKLILWMHEKTRITEEDLARPYTEDEVKELCLRTKVKVDMTAWNCLWEAKKRFEAKGRFVNKSERFINRMYMKAVRKKMVQPYPEEFVAQRREVVAAETKKHNISRLDRWRRKKTQNLSAQESSPARGAHASFIDAMQTNEVQVNANLSSVSQVNFQVEAMARPAVSSSDLSGIGDDEDEHQQSEFQDEHINCPETAINENSVRCDPINSGRMRTGCINSQGNNNTESDPDYYMFGTQLSSLLRPTSTQEPDDQVNCPETEMNESWVRCDQINSESMSIGPSIDSEGTITFQNSESEPIDVDSIA
UniProt ID: B4QT24
Variant: E -> A at position 172-172
Variant annotation: in strain: Zimbabwe 70 and Zimbabwe 79
Protein function: Binds to chromosome ends in a sequence-dependent manner and is required for telomere capping.
Reference sequence:
MSGTQMSAFLRQYLADEDKKIRAQFKESDPNNKLILWMHEKTRITEEDLARPYTEDEVKELCLRTKVKVDMTAWNCLWEAKKRFEAKGRFVNKSERFINRMYMKAVRKKMVQPYPEEFVAQRREVVAAETKKHNISRLDRWRRKKTQNLSAQESSPARGAHASFIDAMQTNEVQVNANLSSVSQVNFQVEAMARPAVSSSDLSGIGDDEDEHQQSEFQDEHINCPETAINENSVRCDPINSGRMRTGCINSQGNNNTESDPDYYMFGTQLSSLLRPTSTQEPDDQVNCPETEMNESWVRCDQINSESMSIGPSIDSEGTITFQNSESEPIDVDSIA
UniProt ID: B4QT24
Variant: V -> D at position 173-173
Variant annotation: in strain: Mexico 2, Mexico 12, Mexico 23, Mexico 31, North Carolina 19, North Carolina 29, Zimbabwe 4, Zimbabwe 19, Zimbabwe 21, Zimbabwe 50, Zimbabwe 70, Zimbabwe 79
Protein function: Binds to chromosome ends in a sequence-dependent manner and is required for telomere capping.
Reference sequence:
MSGTQMSAFLRQYLADEDKKIRAQFKESDPNNKLILWMHEKTRITEEDLARPYTEDEVKELCLRTKVKVDMTAWNCLWEAKKRFEAKGRFVNKSERFINRMYMKAVRKKMVQPYPEEFVAQRREVVAAETKKHNISRLDRWRRKKTQNLSAQESSPARGAHASFIDAMQTNEVQVNANLSSVSQVNFQVEAMARPAVSSSDLSGIGDDEDEHQQSEFQDEHINCPETAINENSVRCDPINSGRMRTGCINSQGNNNTESDPDYYMFGTQLSSLLRPTSTQEPDDQVNCPETEMNESWVRCDQINSESMSIGPSIDSEGTITFQNSESEPIDVDSIA
UniProt ID: B4QT24
Variant: V -> I at position 185-185
Variant annotation: in strain: Colombia 32
Protein function: Binds to chromosome ends in a sequence-dependent manner and is required for telomere capping.
Reference sequence:
MSGTQMSAFLRQYLADEDKKIRAQFKESDPNNKLILWMHEKTRITEEDLARPYTEDEVKELCLRTKVKVDMTAWNCLWEAKKRFEAKGRFVNKSERFINRMYMKAVRKKMVQPYPEEFVAQRREVVAAETKKHNISRLDRWRRKKTQNLSAQESSPARGAHASFIDAMQTNEVQVNANLSSVSQVNFQVEAMARPAVSSSDLSGIGDDEDEHQQSEFQDEHINCPETAINENSVRCDPINSGRMRTGCINSQGNNNTESDPDYYMFGTQLSSLLRPTSTQEPDDQVNCPETEMNESWVRCDQINSESMSIGPSIDSEGTITFQNSESEPIDVDSIA
UniProt ID: B4QT24
Variant: V -> M at position 185-185
Variant annotation: in strain: Mexico 2, Mexico 23, Mexico 31, Zimbabwe 19, Zimbabwe 21, Zimbabwe 50
Protein function: Binds to chromosome ends in a sequence-dependent manner and is required for telomere capping.
Reference sequence:
MSGTQMSAFLRQYLADEDKKIRAQFKESDPNNKLILWMHEKTRITEEDLARPYTEDEVKELCLRTKVKVDMTAWNCLWEAKKRFEAKGRFVNKSERFINRMYMKAVRKKMVQPYPEEFVAQRREVVAAETKKHNISRLDRWRRKKTQNLSAQESSPARGAHASFIDAMQTNEVQVNANLSSVSQVNFQVEAMARPAVSSSDLSGIGDDEDEHQQSEFQDEHINCPETAINENSVRCDPINSGRMRTGCINSQGNNNTESDPDYYMFGTQLSSLLRPTSTQEPDDQVNCPETEMNESWVRCDQINSESMSIGPSIDSEGTITFQNSESEPIDVDSIA
UniProt ID: B4QT24
Variant: M -> I at position 192-192
Variant annotation: in strain: Zimbabwe 4
Protein function: Binds to chromosome ends in a sequence-dependent manner and is required for telomere capping.
Reference sequence:
MSGTQMSAFLRQYLADEDKKIRAQFKESDPNNKLILWMHEKTRITEEDLARPYTEDEVKELCLRTKVKVDMTAWNCLWEAKKRFEAKGRFVNKSERFINRMYMKAVRKKMVQPYPEEFVAQRREVVAAETKKHNISRLDRWRRKKTQNLSAQESSPARGAHASFIDAMQTNEVQVNANLSSVSQVNFQVEAMARPAVSSSDLSGIGDDEDEHQQSEFQDEHINCPETAINENSVRCDPINSGRMRTGCINSQGNNNTESDPDYYMFGTQLSSLLRPTSTQEPDDQVNCPETEMNESWVRCDQINSESMSIGPSIDSEGTITFQNSESEPIDVDSIA
UniProt ID: B4QT24
Variant: M -> V at position 192-192
Variant annotation: in strain: Mexico 2, Mexico 23, Mexico 31, Zimbabwe 19, Zimbabwe 21 and Zimbabwe 50
Protein function: Binds to chromosome ends in a sequence-dependent manner and is required for telomere capping.
Reference sequence:
MSGTQMSAFLRQYLADEDKKIRAQFKESDPNNKLILWMHEKTRITEEDLARPYTEDEVKELCLRTKVKVDMTAWNCLWEAKKRFEAKGRFVNKSERFINRMYMKAVRKKMVQPYPEEFVAQRREVVAAETKKHNISRLDRWRRKKTQNLSAQESSPARGAHASFIDAMQTNEVQVNANLSSVSQVNFQVEAMARPAVSSSDLSGIGDDEDEHQQSEFQDEHINCPETAINENSVRCDPINSGRMRTGCINSQGNNNTESDPDYYMFGTQLSSLLRPTSTQEPDDQVNCPETEMNESWVRCDQINSESMSIGPSIDSEGTITFQNSESEPIDVDSIA
UniProt ID: B4QT24
Variant: A -> S at position 193-193
Variant annotation: in strain: Zimbabwe 4
Protein function: Binds to chromosome ends in a sequence-dependent manner and is required for telomere capping.
Reference sequence:
MSGTQMSAFLRQYLADEDKKIRAQFKESDPNNKLILWMHEKTRITEEDLARPYTEDEVKELCLRTKVKVDMTAWNCLWEAKKRFEAKGRFVNKSERFINRMYMKAVRKKMVQPYPEEFVAQRREVVAAETKKHNISRLDRWRRKKTQNLSAQESSPARGAHASFIDAMQTNEVQVNANLSSVSQVNFQVEAMARPAVSSSDLSGIGDDEDEHQQSEFQDEHINCPETAINENSVRCDPINSGRMRTGCINSQGNNNTESDPDYYMFGTQLSSLLRPTSTQEPDDQVNCPETEMNESWVRCDQINSESMSIGPSIDSEGTITFQNSESEPIDVDSIA
UniProt ID: B4QT24
Variant: H -> Q at position 212-212
Variant annotation: in strain: Colombia 32, Mexico 12, North Carolina 19, Zimbabwe 4 and Zimbabwe 70
Protein function: Binds to chromosome ends in a sequence-dependent manner and is required for telomere capping.
Reference sequence:
MSGTQMSAFLRQYLADEDKKIRAQFKESDPNNKLILWMHEKTRITEEDLARPYTEDEVKELCLRTKVKVDMTAWNCLWEAKKRFEAKGRFVNKSERFINRMYMKAVRKKMVQPYPEEFVAQRREVVAAETKKHNISRLDRWRRKKTQNLSAQESSPARGAHASFIDAMQTNEVQVNANLSSVSQVNFQVEAMARPAVSSSDLSGIGDDEDEHQQSEFQDEHINCPETAINENSVRCDPINSGRMRTGCINSQGNNNTESDPDYYMFGTQLSSLLRPTSTQEPDDQVNCPETEMNESWVRCDQINSESMSIGPSIDSEGTITFQNSESEPIDVDSIA
UniProt ID: B4QT24
Variant: E -> V at position 220-220
Variant annotation: in strain: Mexico 2, Mexico 23, Mexico 31, Zimbabwe 19, Zimbabwe 21 and Zimbabwe 50
Protein function: Binds to chromosome ends in a sequence-dependent manner and is required for telomere capping.
Reference sequence:
MSGTQMSAFLRQYLADEDKKIRAQFKESDPNNKLILWMHEKTRITEEDLARPYTEDEVKELCLRTKVKVDMTAWNCLWEAKKRFEAKGRFVNKSERFINRMYMKAVRKKMVQPYPEEFVAQRREVVAAETKKHNISRLDRWRRKKTQNLSAQESSPARGAHASFIDAMQTNEVQVNANLSSVSQVNFQVEAMARPAVSSSDLSGIGDDEDEHQQSEFQDEHINCPETAINENSVRCDPINSGRMRTGCINSQGNNNTESDPDYYMFGTQLSSLLRPTSTQEPDDQVNCPETEMNESWVRCDQINSESMSIGPSIDSEGTITFQNSESEPIDVDSIA
UniProt ID: B4QT24
Variant: A -> V at position 228-228
Variant annotation: in strain: Mexico 12
Protein function: Binds to chromosome ends in a sequence-dependent manner and is required for telomere capping.
Reference sequence:
MSGTQMSAFLRQYLADEDKKIRAQFKESDPNNKLILWMHEKTRITEEDLARPYTEDEVKELCLRTKVKVDMTAWNCLWEAKKRFEAKGRFVNKSERFINRMYMKAVRKKMVQPYPEEFVAQRREVVAAETKKHNISRLDRWRRKKTQNLSAQESSPARGAHASFIDAMQTNEVQVNANLSSVSQVNFQVEAMARPAVSSSDLSGIGDDEDEHQQSEFQDEHINCPETAINENSVRCDPINSGRMRTGCINSQGNNNTESDPDYYMFGTQLSSLLRPTSTQEPDDQVNCPETEMNESWVRCDQINSESMSIGPSIDSEGTITFQNSESEPIDVDSIA
UniProt ID: B4QT24
Variant: P -> Q at position 238-238
Variant annotation: in strain: Mexico 2, Mexico 12, Mexico 23, Mexico 31, North Carolina 19, Zimbabwe 19, Zimbabwe 21, Zimbabwe 50
Protein function: Binds to chromosome ends in a sequence-dependent manner and is required for telomere capping.
Reference sequence:
MSGTQMSAFLRQYLADEDKKIRAQFKESDPNNKLILWMHEKTRITEEDLARPYTEDEVKELCLRTKVKVDMTAWNCLWEAKKRFEAKGRFVNKSERFINRMYMKAVRKKMVQPYPEEFVAQRREVVAAETKKHNISRLDRWRRKKTQNLSAQESSPARGAHASFIDAMQTNEVQVNANLSSVSQVNFQVEAMARPAVSSSDLSGIGDDEDEHQQSEFQDEHINCPETAINENSVRCDPINSGRMRTGCINSQGNNNTESDPDYYMFGTQLSSLLRPTSTQEPDDQVNCPETEMNESWVRCDQINSESMSIGPSIDSEGTITFQNSESEPIDVDSIA
UniProt ID: B4QT24
Variant: R -> P at position 245-245
Variant annotation: in strain: Mexico 12
Protein function: Binds to chromosome ends in a sequence-dependent manner and is required for telomere capping.
Reference sequence:
MSGTQMSAFLRQYLADEDKKIRAQFKESDPNNKLILWMHEKTRITEEDLARPYTEDEVKELCLRTKVKVDMTAWNCLWEAKKRFEAKGRFVNKSERFINRMYMKAVRKKMVQPYPEEFVAQRREVVAAETKKHNISRLDRWRRKKTQNLSAQESSPARGAHASFIDAMQTNEVQVNANLSSVSQVNFQVEAMARPAVSSSDLSGIGDDEDEHQQSEFQDEHINCPETAINENSVRCDPINSGRMRTGCINSQGNNNTESDPDYYMFGTQLSSLLRPTSTQEPDDQVNCPETEMNESWVRCDQINSESMSIGPSIDSEGTITFQNSESEPIDVDSIA
UniProt ID: B4QT24
Variant: M -> I at position 265-265
Variant annotation: in strain: Mexico 2, Mexico 12, Mexico 23, Mexico 31, Zimbabwe 4, Zimbabwe 19, Zimbabwe 21, Zimbabwe 50, Zimbabwe 70, Zimbabwe 79
Protein function: Binds to chromosome ends in a sequence-dependent manner and is required for telomere capping.
Reference sequence:
MSGTQMSAFLRQYLADEDKKIRAQFKESDPNNKLILWMHEKTRITEEDLARPYTEDEVKELCLRTKVKVDMTAWNCLWEAKKRFEAKGRFVNKSERFINRMYMKAVRKKMVQPYPEEFVAQRREVVAAETKKHNISRLDRWRRKKTQNLSAQESSPARGAHASFIDAMQTNEVQVNANLSSVSQVNFQVEAMARPAVSSSDLSGIGDDEDEHQQSEFQDEHINCPETAINENSVRCDPINSGRMRTGCINSQGNNNTESDPDYYMFGTQLSSLLRPTSTQEPDDQVNCPETEMNESWVRCDQINSESMSIGPSIDSEGTITFQNSESEPIDVDSIA
UniProt ID: B4QT24
Variant: L -> I at position 274-274
Variant annotation: in strain: Mexico 12
Protein function: Binds to chromosome ends in a sequence-dependent manner and is required for telomere capping.
Reference sequence:
MSGTQMSAFLRQYLADEDKKIRAQFKESDPNNKLILWMHEKTRITEEDLARPYTEDEVKELCLRTKVKVDMTAWNCLWEAKKRFEAKGRFVNKSERFINRMYMKAVRKKMVQPYPEEFVAQRREVVAAETKKHNISRLDRWRRKKTQNLSAQESSPARGAHASFIDAMQTNEVQVNANLSSVSQVNFQVEAMARPAVSSSDLSGIGDDEDEHQQSEFQDEHINCPETAINENSVRCDPINSGRMRTGCINSQGNNNTESDPDYYMFGTQLSSLLRPTSTQEPDDQVNCPETEMNESWVRCDQINSESMSIGPSIDSEGTITFQNSESEPIDVDSIA
UniProt ID: B4R345
Variant: D -> A at position 111-111
Variant annotation: in strain: S1
Protein function: E1-like enzyme which activates UFM1.
Reference sequence:
MSHAIDELQAIIADLKTELETEPKSSVGVASNSRLARDRIDRMSAEVVDSNPYSRLMALQRMNIVKDYERIRDKAVAIVGVGGVGSVTADMLTRCGIGKLILFDYDKVELDNMNRLFFTPDQAGLSKVAAAAATLSFINPDVEIETHNYNITTVENFDRFLDTISQGGRIAGQPVDLVLSCVDNFEARMAINAACNERNLNWFESGVSENAVSGHIQFIRPGDTACFACAPPLVVAENIDEKTLKREGVCAASLPTTMGITAGFLVQNALKYLLNFGEVSDYLGYNALSDFFPKMTLKPNPQCDDRNCIVRQKEFQARPKPVVIEEKAVSEEPLHATNEWGIELVAEDAPQSNPTPAETPVMGEGLRLAYEAPEKSSETSEETVTAATADETSLEDLMAQMKSM
UniProt ID: B7U540
Variant: RR -> QH at position 39-40
Protein function: Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium.
Reference sequence:
MTAASRANPYSIVSLEEDGLHLVTMSGANGFGNGKVHTRRRCRNRFVKKNGQCNIAFANMDEKSQRYLADMFTTCVDIRWRYMLLIFSLAFLASWLLFGVIFWVIAVAHGDLEPAEGHGRTPCVMQVHGFMAAFLFSIETQTTIGYGLRCVTEECLVAVFMVVAQSIVGCIIDSFMIGAIMAKMARPKKRAQTLLFSHNAVVALRDGKLCLMWRVGNLRKSHIVEAHVRAQLIKPRVTEEGEYIPLDQIDIDVGFDKGLDRIFLVSPITILHEIDEASPLFGISRQDLETDDFEIVVILEGMVEATAMTTQARSSYLANEILWGHRFEPVLFEEKNQYKIDYSHFHKTYEVPSTPRCSAKDLVENKFLLPSANSFCYENELAFLSRDEEDEADGDQDGRSRDGLSPQARHDFDRLQAGGGVLEQRPYRRGSEI
UniProt ID: B7U540
Variant: R -> C at position 43-43
Variant annotation: found in a patient with sporadic periodic paralysis; uncertain significance; decreases potassium inward and outward currents density; reduces cell surface abundance; reduces conductance; dominant negative mutation; dbSNP:rs527236151
Protein function: Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium.
Reference sequence:
MTAASRANPYSIVSLEEDGLHLVTMSGANGFGNGKVHTRRRCRNRFVKKNGQCNIAFANMDEKSQRYLADMFTTCVDIRWRYMLLIFSLAFLASWLLFGVIFWVIAVAHGDLEPAEGHGRTPCVMQVHGFMAAFLFSIETQTTIGYGLRCVTEECLVAVFMVVAQSIVGCIIDSFMIGAIMAKMARPKKRAQTLLFSHNAVVALRDGKLCLMWRVGNLRKSHIVEAHVRAQLIKPRVTEEGEYIPLDQIDIDVGFDKGLDRIFLVSPITILHEIDEASPLFGISRQDLETDDFEIVVILEGMVEATAMTTQARSSYLANEILWGHRFEPVLFEEKNQYKIDYSHFHKTYEVPSTPRCSAKDLVENKFLLPSANSFCYENELAFLSRDEEDEADGDQDGRSRDGLSPQARHDFDRLQAGGGVLEQRPYRRGSEI
UniProt ID: B7U540
Variant: A -> E at position 56-56
Variant annotation: in dbSNP:rs1435508633
Protein function: Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium.
Reference sequence:
MTAASRANPYSIVSLEEDGLHLVTMSGANGFGNGKVHTRRRCRNRFVKKNGQCNIAFANMDEKSQRYLADMFTTCVDIRWRYMLLIFSLAFLASWLLFGVIFWVIAVAHGDLEPAEGHGRTPCVMQVHGFMAAFLFSIETQTTIGYGLRCVTEECLVAVFMVVAQSIVGCIIDSFMIGAIMAKMARPKKRAQTLLFSHNAVVALRDGKLCLMWRVGNLRKSHIVEAHVRAQLIKPRVTEEGEYIPLDQIDIDVGFDKGLDRIFLVSPITILHEIDEASPLFGISRQDLETDDFEIVVILEGMVEATAMTTQARSSYLANEILWGHRFEPVLFEEKNQYKIDYSHFHKTYEVPSTPRCSAKDLVENKFLLPSANSFCYENELAFLSRDEEDEADGDQDGRSRDGLSPQARHDFDRLQAGGGVLEQRPYRRGSEI
UniProt ID: B7U540
Variant: T -> M at position 140-140
Variant annotation: in TTPP2; dbSNP:rs527236152
Protein function: Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium.
Reference sequence:
MTAASRANPYSIVSLEEDGLHLVTMSGANGFGNGKVHTRRRCRNRFVKKNGQCNIAFANMDEKSQRYLADMFTTCVDIRWRYMLLIFSLAFLASWLLFGVIFWVIAVAHGDLEPAEGHGRTPCVMQVHGFMAAFLFSIETQTTIGYGLRCVTEECLVAVFMVVAQSIVGCIIDSFMIGAIMAKMARPKKRAQTLLFSHNAVVALRDGKLCLMWRVGNLRKSHIVEAHVRAQLIKPRVTEEGEYIPLDQIDIDVGFDKGLDRIFLVSPITILHEIDEASPLFGISRQDLETDDFEIVVILEGMVEATAMTTQARSSYLANEILWGHRFEPVLFEEKNQYKIDYSHFHKTYEVPSTPRCSAKDLVENKFLLPSANSFCYENELAFLSRDEEDEADGDQDGRSRDGLSPQARHDFDRLQAGGGVLEQRPYRRGSEI