sujigwak/NVAR huggingface dataset:
UniProt ID: O88466
Variant: E -> G at position 706-706
Variant annotation: in strain: Swiss Webster
Protein function: RNA-binding protein . Specifically binds to 5'-GGGGCC-3' sequence repeats in RNA . Essential for maintenance of peripheral motor neuron and skeletal muscle function . Required for normal expression and/or alternative splicing of a number of genes in spinal cord and skeletal muscle, including the neurite outgrowth inhibitor RTN4 . Also contributes to normal mitochondrial respiratory function in motor neurons, via an unknown mechanism .
Reference sequence:
MVRERKCILCHIVYGSKKEMDEHMRSMLHHRELENLKGRDISHECRVCRVTEVGLSAYAKHISGQLHKDNVDAQEREDDGKEEEEEEYFDKELVQLIQERKEQSRQDEPPSNSQEVNSDDRQPQWRREDRIPYQDRESYSQPPRHHRGPPQRDWKWEKDGFNSTRKNSFPHSLRNSGGPRGSSVWHKGATRGSSTWFLNHSNSGGGWHSNNGMVDWNYNGTGRNSSWHSEGTGGFPSWHMNNSNGNWKSSVRGTNSWNYNGLGDKFQQGRNRNPNYQMEDMTKMWNKKSNKPSKYSQERCKWQRQDRDKAAKYRSPPEGYASDTFPSEGLLEFNFEQRESQTTKQTDTAASKINGKNGTKARDKFRRWTPYPSQKTLDLQSALKEVIGSKSDTLEKPLFNFSLITAGLRKPVDKTSNPPVIKTQKAGPPGSPSHKAISDGTAFCEVARACSITEQSEPHQKSNKIPLLKSPLLPLPTPKSGPHKQNLKNRSKNKETKSFPSGDHSHLLNTSTLEGSHGSSYTSKSLGLCPRVLKENKTVSGTQKEPDEKLNNTSQKAQDTVLQCPKTLQNPLPTTPKRMENDAKESSVEESAKDSLSIESQPHSAGNSAMTSDAENHGIKSEGVASLTTEVVSCSTHTVDKEQGSQIPGTPENLSTSPRNSTVLQKEAEVQVSAATSPHSGLLLDLKTSLEDAQDNNLVKSDGPFETESFEDTSLDTELQKPDLNNQPPGTLLPELSKLGFPASLQRDLSRHISLKSKTGTHLPEPNLNSARRIRNVSGHRKNETEKESGLKPTLRQILNASRRNVNWEQVIQQVTKKKQELGKGLPRFGIEMVPLVQNEQEVLDLDEEPDLSSLEGFQWEGVSIPSSSGLARKRSLSESSVVMDRAPVYSFFTGEGTGKENEAQQSPSPNTALSAAQSQKTAMYLEQEVAPLTPSVGTGERVGNIPTQRRHSAQLPSGHIMPVMHSARDLHSQERSTPLSERHAQESTGEGNSLSSNASSGHAVSSLADAATDSSCTSGAEQTDGHSIRKKRRATGDGSSPELPSLERKNKRRKIKGKKERSQVDQLLTISLREEELSKSLQCMDNKLLQARAALQTAYVEVQRLLVLKQQITVEMSALRTHRIQILQGLQETYEPPEHPDQAPCSLISREQRNSRSQTSFETALLPAPFFPGFLDPPPSHASLPSPGNPLQITMSTFQAHGTAPDSSVQIKQEPMSPEQEGNMNALPQGCASNVSKELLQTNRVVDDGSSVYPAIPAVIASESTENCQEVSKDLNFSVEQGNSRSKGNSPSCQSPDLPGINRGEETAKGSSGSEACSSSFLRLSFTPETPAEKETQSPADQPEQQAESTLASAETRGSKKKKKLRKKKTLRATHVPENSDTEQDVFTAKPARKVKTAKAAKGAKVTTSQTGQEQGTARDEPDSDSSLEVLEVTNPQLEVVAIDTSESGDEKPDSPSKKDAWIAAEQNPIETSRSGCDEVSSTSELGTRYKDGVPVSVAETQTVISIKASKHSSEISSEPGDDEEPTEGSFEGHQAAVNAIQIFGNFLYTCSADTTVRVYNLVSRKCVGVFEGHTSKVNCLLVTHTSGKSSVLYTGSSDHTIRCYNIKTRECMEQLQLEDRVLCLHNRWRTLYAGLANGTVVTFDIKNNKRQEIFECHGPRAVSCLATAQEGARKLLVVGSYDCTISVRDARNGLLLRTLEGHSKTVLCMKVVNDLVFSGSSDQSVHAHNIHTGELVRIYKGHNHAVTVVNILGKVMVTACLDKFVRVYELQSHDRLQVYGGHKDMIMCMTIHKSVIYTGCYDGSIQAVRLNLMQNYRCWWYGCTLIFGVVDHLKQHLLTDHTNPNFQTLKCRWRNCDAFFTARKGSKQDVAGHIERHAEDDSKIDS
UniProt ID: O88466
Variant: E -> G at position 711-711
Variant annotation: in strain: Swiss Webster
Protein function: RNA-binding protein . Specifically binds to 5'-GGGGCC-3' sequence repeats in RNA . Essential for maintenance of peripheral motor neuron and skeletal muscle function . Required for normal expression and/or alternative splicing of a number of genes in spinal cord and skeletal muscle, including the neurite outgrowth inhibitor RTN4 . Also contributes to normal mitochondrial respiratory function in motor neurons, via an unknown mechanism .
Reference sequence:
MVRERKCILCHIVYGSKKEMDEHMRSMLHHRELENLKGRDISHECRVCRVTEVGLSAYAKHISGQLHKDNVDAQEREDDGKEEEEEEYFDKELVQLIQERKEQSRQDEPPSNSQEVNSDDRQPQWRREDRIPYQDRESYSQPPRHHRGPPQRDWKWEKDGFNSTRKNSFPHSLRNSGGPRGSSVWHKGATRGSSTWFLNHSNSGGGWHSNNGMVDWNYNGTGRNSSWHSEGTGGFPSWHMNNSNGNWKSSVRGTNSWNYNGLGDKFQQGRNRNPNYQMEDMTKMWNKKSNKPSKYSQERCKWQRQDRDKAAKYRSPPEGYASDTFPSEGLLEFNFEQRESQTTKQTDTAASKINGKNGTKARDKFRRWTPYPSQKTLDLQSALKEVIGSKSDTLEKPLFNFSLITAGLRKPVDKTSNPPVIKTQKAGPPGSPSHKAISDGTAFCEVARACSITEQSEPHQKSNKIPLLKSPLLPLPTPKSGPHKQNLKNRSKNKETKSFPSGDHSHLLNTSTLEGSHGSSYTSKSLGLCPRVLKENKTVSGTQKEPDEKLNNTSQKAQDTVLQCPKTLQNPLPTTPKRMENDAKESSVEESAKDSLSIESQPHSAGNSAMTSDAENHGIKSEGVASLTTEVVSCSTHTVDKEQGSQIPGTPENLSTSPRNSTVLQKEAEVQVSAATSPHSGLLLDLKTSLEDAQDNNLVKSDGPFETESFEDTSLDTELQKPDLNNQPPGTLLPELSKLGFPASLQRDLSRHISLKSKTGTHLPEPNLNSARRIRNVSGHRKNETEKESGLKPTLRQILNASRRNVNWEQVIQQVTKKKQELGKGLPRFGIEMVPLVQNEQEVLDLDEEPDLSSLEGFQWEGVSIPSSSGLARKRSLSESSVVMDRAPVYSFFTGEGTGKENEAQQSPSPNTALSAAQSQKTAMYLEQEVAPLTPSVGTGERVGNIPTQRRHSAQLPSGHIMPVMHSARDLHSQERSTPLSERHAQESTGEGNSLSSNASSGHAVSSLADAATDSSCTSGAEQTDGHSIRKKRRATGDGSSPELPSLERKNKRRKIKGKKERSQVDQLLTISLREEELSKSLQCMDNKLLQARAALQTAYVEVQRLLVLKQQITVEMSALRTHRIQILQGLQETYEPPEHPDQAPCSLISREQRNSRSQTSFETALLPAPFFPGFLDPPPSHASLPSPGNPLQITMSTFQAHGTAPDSSVQIKQEPMSPEQEGNMNALPQGCASNVSKELLQTNRVVDDGSSVYPAIPAVIASESTENCQEVSKDLNFSVEQGNSRSKGNSPSCQSPDLPGINRGEETAKGSSGSEACSSSFLRLSFTPETPAEKETQSPADQPEQQAESTLASAETRGSKKKKKLRKKKTLRATHVPENSDTEQDVFTAKPARKVKTAKAAKGAKVTTSQTGQEQGTARDEPDSDSSLEVLEVTNPQLEVVAIDTSESGDEKPDSPSKKDAWIAAEQNPIETSRSGCDEVSSTSELGTRYKDGVPVSVAETQTVISIKASKHSSEISSEPGDDEEPTEGSFEGHQAAVNAIQIFGNFLYTCSADTTVRVYNLVSRKCVGVFEGHTSKVNCLLVTHTSGKSSVLYTGSSDHTIRCYNIKTRECMEQLQLEDRVLCLHNRWRTLYAGLANGTVVTFDIKNNKRQEIFECHGPRAVSCLATAQEGARKLLVVGSYDCTISVRDARNGLLLRTLEGHSKTVLCMKVVNDLVFSGSSDQSVHAHNIHTGELVRIYKGHNHAVTVVNILGKVMVTACLDKFVRVYELQSHDRLQVYGGHKDMIMCMTIHKSVIYTGCYDGSIQAVRLNLMQNYRCWWYGCTLIFGVVDHLKQHLLTDHTNPNFQTLKCRWRNCDAFFTARKGSKQDVAGHIERHAEDDSKIDS
UniProt ID: O88466
Variant: T -> A at position 717-717
Variant annotation: in strain: C57BL/10
Protein function: RNA-binding protein . Specifically binds to 5'-GGGGCC-3' sequence repeats in RNA . Essential for maintenance of peripheral motor neuron and skeletal muscle function . Required for normal expression and/or alternative splicing of a number of genes in spinal cord and skeletal muscle, including the neurite outgrowth inhibitor RTN4 . Also contributes to normal mitochondrial respiratory function in motor neurons, via an unknown mechanism .
Reference sequence:
MVRERKCILCHIVYGSKKEMDEHMRSMLHHRELENLKGRDISHECRVCRVTEVGLSAYAKHISGQLHKDNVDAQEREDDGKEEEEEEYFDKELVQLIQERKEQSRQDEPPSNSQEVNSDDRQPQWRREDRIPYQDRESYSQPPRHHRGPPQRDWKWEKDGFNSTRKNSFPHSLRNSGGPRGSSVWHKGATRGSSTWFLNHSNSGGGWHSNNGMVDWNYNGTGRNSSWHSEGTGGFPSWHMNNSNGNWKSSVRGTNSWNYNGLGDKFQQGRNRNPNYQMEDMTKMWNKKSNKPSKYSQERCKWQRQDRDKAAKYRSPPEGYASDTFPSEGLLEFNFEQRESQTTKQTDTAASKINGKNGTKARDKFRRWTPYPSQKTLDLQSALKEVIGSKSDTLEKPLFNFSLITAGLRKPVDKTSNPPVIKTQKAGPPGSPSHKAISDGTAFCEVARACSITEQSEPHQKSNKIPLLKSPLLPLPTPKSGPHKQNLKNRSKNKETKSFPSGDHSHLLNTSTLEGSHGSSYTSKSLGLCPRVLKENKTVSGTQKEPDEKLNNTSQKAQDTVLQCPKTLQNPLPTTPKRMENDAKESSVEESAKDSLSIESQPHSAGNSAMTSDAENHGIKSEGVASLTTEVVSCSTHTVDKEQGSQIPGTPENLSTSPRNSTVLQKEAEVQVSAATSPHSGLLLDLKTSLEDAQDNNLVKSDGPFETESFEDTSLDTELQKPDLNNQPPGTLLPELSKLGFPASLQRDLSRHISLKSKTGTHLPEPNLNSARRIRNVSGHRKNETEKESGLKPTLRQILNASRRNVNWEQVIQQVTKKKQELGKGLPRFGIEMVPLVQNEQEVLDLDEEPDLSSLEGFQWEGVSIPSSSGLARKRSLSESSVVMDRAPVYSFFTGEGTGKENEAQQSPSPNTALSAAQSQKTAMYLEQEVAPLTPSVGTGERVGNIPTQRRHSAQLPSGHIMPVMHSARDLHSQERSTPLSERHAQESTGEGNSLSSNASSGHAVSSLADAATDSSCTSGAEQTDGHSIRKKRRATGDGSSPELPSLERKNKRRKIKGKKERSQVDQLLTISLREEELSKSLQCMDNKLLQARAALQTAYVEVQRLLVLKQQITVEMSALRTHRIQILQGLQETYEPPEHPDQAPCSLISREQRNSRSQTSFETALLPAPFFPGFLDPPPSHASLPSPGNPLQITMSTFQAHGTAPDSSVQIKQEPMSPEQEGNMNALPQGCASNVSKELLQTNRVVDDGSSVYPAIPAVIASESTENCQEVSKDLNFSVEQGNSRSKGNSPSCQSPDLPGINRGEETAKGSSGSEACSSSFLRLSFTPETPAEKETQSPADQPEQQAESTLASAETRGSKKKKKLRKKKTLRATHVPENSDTEQDVFTAKPARKVKTAKAAKGAKVTTSQTGQEQGTARDEPDSDSSLEVLEVTNPQLEVVAIDTSESGDEKPDSPSKKDAWIAAEQNPIETSRSGCDEVSSTSELGTRYKDGVPVSVAETQTVISIKASKHSSEISSEPGDDEEPTEGSFEGHQAAVNAIQIFGNFLYTCSADTTVRVYNLVSRKCVGVFEGHTSKVNCLLVTHTSGKSSVLYTGSSDHTIRCYNIKTRECMEQLQLEDRVLCLHNRWRTLYAGLANGTVVTFDIKNNKRQEIFECHGPRAVSCLATAQEGARKLLVVGSYDCTISVRDARNGLLLRTLEGHSKTVLCMKVVNDLVFSGSSDQSVHAHNIHTGELVRIYKGHNHAVTVVNILGKVMVTACLDKFVRVYELQSHDRLQVYGGHKDMIMCMTIHKSVIYTGCYDGSIQAVRLNLMQNYRCWWYGCTLIFGVVDHLKQHLLTDHTNPNFQTLKCRWRNCDAFFTARKGSKQDVAGHIERHAEDDSKIDS
UniProt ID: O88466
Variant: S -> C at position 778-778
Variant annotation: in strain: 129/J
Protein function: RNA-binding protein . Specifically binds to 5'-GGGGCC-3' sequence repeats in RNA . Essential for maintenance of peripheral motor neuron and skeletal muscle function . Required for normal expression and/or alternative splicing of a number of genes in spinal cord and skeletal muscle, including the neurite outgrowth inhibitor RTN4 . Also contributes to normal mitochondrial respiratory function in motor neurons, via an unknown mechanism .
Reference sequence:
MVRERKCILCHIVYGSKKEMDEHMRSMLHHRELENLKGRDISHECRVCRVTEVGLSAYAKHISGQLHKDNVDAQEREDDGKEEEEEEYFDKELVQLIQERKEQSRQDEPPSNSQEVNSDDRQPQWRREDRIPYQDRESYSQPPRHHRGPPQRDWKWEKDGFNSTRKNSFPHSLRNSGGPRGSSVWHKGATRGSSTWFLNHSNSGGGWHSNNGMVDWNYNGTGRNSSWHSEGTGGFPSWHMNNSNGNWKSSVRGTNSWNYNGLGDKFQQGRNRNPNYQMEDMTKMWNKKSNKPSKYSQERCKWQRQDRDKAAKYRSPPEGYASDTFPSEGLLEFNFEQRESQTTKQTDTAASKINGKNGTKARDKFRRWTPYPSQKTLDLQSALKEVIGSKSDTLEKPLFNFSLITAGLRKPVDKTSNPPVIKTQKAGPPGSPSHKAISDGTAFCEVARACSITEQSEPHQKSNKIPLLKSPLLPLPTPKSGPHKQNLKNRSKNKETKSFPSGDHSHLLNTSTLEGSHGSSYTSKSLGLCPRVLKENKTVSGTQKEPDEKLNNTSQKAQDTVLQCPKTLQNPLPTTPKRMENDAKESSVEESAKDSLSIESQPHSAGNSAMTSDAENHGIKSEGVASLTTEVVSCSTHTVDKEQGSQIPGTPENLSTSPRNSTVLQKEAEVQVSAATSPHSGLLLDLKTSLEDAQDNNLVKSDGPFETESFEDTSLDTELQKPDLNNQPPGTLLPELSKLGFPASLQRDLSRHISLKSKTGTHLPEPNLNSARRIRNVSGHRKNETEKESGLKPTLRQILNASRRNVNWEQVIQQVTKKKQELGKGLPRFGIEMVPLVQNEQEVLDLDEEPDLSSLEGFQWEGVSIPSSSGLARKRSLSESSVVMDRAPVYSFFTGEGTGKENEAQQSPSPNTALSAAQSQKTAMYLEQEVAPLTPSVGTGERVGNIPTQRRHSAQLPSGHIMPVMHSARDLHSQERSTPLSERHAQESTGEGNSLSSNASSGHAVSSLADAATDSSCTSGAEQTDGHSIRKKRRATGDGSSPELPSLERKNKRRKIKGKKERSQVDQLLTISLREEELSKSLQCMDNKLLQARAALQTAYVEVQRLLVLKQQITVEMSALRTHRIQILQGLQETYEPPEHPDQAPCSLISREQRNSRSQTSFETALLPAPFFPGFLDPPPSHASLPSPGNPLQITMSTFQAHGTAPDSSVQIKQEPMSPEQEGNMNALPQGCASNVSKELLQTNRVVDDGSSVYPAIPAVIASESTENCQEVSKDLNFSVEQGNSRSKGNSPSCQSPDLPGINRGEETAKGSSGSEACSSSFLRLSFTPETPAEKETQSPADQPEQQAESTLASAETRGSKKKKKLRKKKTLRATHVPENSDTEQDVFTAKPARKVKTAKAAKGAKVTTSQTGQEQGTARDEPDSDSSLEVLEVTNPQLEVVAIDTSESGDEKPDSPSKKDAWIAAEQNPIETSRSGCDEVSSTSELGTRYKDGVPVSVAETQTVISIKASKHSSEISSEPGDDEEPTEGSFEGHQAAVNAIQIFGNFLYTCSADTTVRVYNLVSRKCVGVFEGHTSKVNCLLVTHTSGKSSVLYTGSSDHTIRCYNIKTRECMEQLQLEDRVLCLHNRWRTLYAGLANGTVVTFDIKNNKRQEIFECHGPRAVSCLATAQEGARKLLVVGSYDCTISVRDARNGLLLRTLEGHSKTVLCMKVVNDLVFSGSSDQSVHAHNIHTGELVRIYKGHNHAVTVVNILGKVMVTACLDKFVRVYELQSHDRLQVYGGHKDMIMCMTIHKSVIYTGCYDGSIQAVRLNLMQNYRCWWYGCTLIFGVVDHLKQHLLTDHTNPNFQTLKCRWRNCDAFFTARKGSKQDVAGHIERHAEDDSKIDS
UniProt ID: O88466
Variant: S -> T at position 996-996
Variant annotation: in strain: C57BL/6
Protein function: RNA-binding protein . Specifically binds to 5'-GGGGCC-3' sequence repeats in RNA . Essential for maintenance of peripheral motor neuron and skeletal muscle function . Required for normal expression and/or alternative splicing of a number of genes in spinal cord and skeletal muscle, including the neurite outgrowth inhibitor RTN4 . Also contributes to normal mitochondrial respiratory function in motor neurons, via an unknown mechanism .
Reference sequence:
MVRERKCILCHIVYGSKKEMDEHMRSMLHHRELENLKGRDISHECRVCRVTEVGLSAYAKHISGQLHKDNVDAQEREDDGKEEEEEEYFDKELVQLIQERKEQSRQDEPPSNSQEVNSDDRQPQWRREDRIPYQDRESYSQPPRHHRGPPQRDWKWEKDGFNSTRKNSFPHSLRNSGGPRGSSVWHKGATRGSSTWFLNHSNSGGGWHSNNGMVDWNYNGTGRNSSWHSEGTGGFPSWHMNNSNGNWKSSVRGTNSWNYNGLGDKFQQGRNRNPNYQMEDMTKMWNKKSNKPSKYSQERCKWQRQDRDKAAKYRSPPEGYASDTFPSEGLLEFNFEQRESQTTKQTDTAASKINGKNGTKARDKFRRWTPYPSQKTLDLQSALKEVIGSKSDTLEKPLFNFSLITAGLRKPVDKTSNPPVIKTQKAGPPGSPSHKAISDGTAFCEVARACSITEQSEPHQKSNKIPLLKSPLLPLPTPKSGPHKQNLKNRSKNKETKSFPSGDHSHLLNTSTLEGSHGSSYTSKSLGLCPRVLKENKTVSGTQKEPDEKLNNTSQKAQDTVLQCPKTLQNPLPTTPKRMENDAKESSVEESAKDSLSIESQPHSAGNSAMTSDAENHGIKSEGVASLTTEVVSCSTHTVDKEQGSQIPGTPENLSTSPRNSTVLQKEAEVQVSAATSPHSGLLLDLKTSLEDAQDNNLVKSDGPFETESFEDTSLDTELQKPDLNNQPPGTLLPELSKLGFPASLQRDLSRHISLKSKTGTHLPEPNLNSARRIRNVSGHRKNETEKESGLKPTLRQILNASRRNVNWEQVIQQVTKKKQELGKGLPRFGIEMVPLVQNEQEVLDLDEEPDLSSLEGFQWEGVSIPSSSGLARKRSLSESSVVMDRAPVYSFFTGEGTGKENEAQQSPSPNTALSAAQSQKTAMYLEQEVAPLTPSVGTGERVGNIPTQRRHSAQLPSGHIMPVMHSARDLHSQERSTPLSERHAQESTGEGNSLSSNASSGHAVSSLADAATDSSCTSGAEQTDGHSIRKKRRATGDGSSPELPSLERKNKRRKIKGKKERSQVDQLLTISLREEELSKSLQCMDNKLLQARAALQTAYVEVQRLLVLKQQITVEMSALRTHRIQILQGLQETYEPPEHPDQAPCSLISREQRNSRSQTSFETALLPAPFFPGFLDPPPSHASLPSPGNPLQITMSTFQAHGTAPDSSVQIKQEPMSPEQEGNMNALPQGCASNVSKELLQTNRVVDDGSSVYPAIPAVIASESTENCQEVSKDLNFSVEQGNSRSKGNSPSCQSPDLPGINRGEETAKGSSGSEACSSSFLRLSFTPETPAEKETQSPADQPEQQAESTLASAETRGSKKKKKLRKKKTLRATHVPENSDTEQDVFTAKPARKVKTAKAAKGAKVTTSQTGQEQGTARDEPDSDSSLEVLEVTNPQLEVVAIDTSESGDEKPDSPSKKDAWIAAEQNPIETSRSGCDEVSSTSELGTRYKDGVPVSVAETQTVISIKASKHSSEISSEPGDDEEPTEGSFEGHQAAVNAIQIFGNFLYTCSADTTVRVYNLVSRKCVGVFEGHTSKVNCLLVTHTSGKSSVLYTGSSDHTIRCYNIKTRECMEQLQLEDRVLCLHNRWRTLYAGLANGTVVTFDIKNNKRQEIFECHGPRAVSCLATAQEGARKLLVVGSYDCTISVRDARNGLLLRTLEGHSKTVLCMKVVNDLVFSGSSDQSVHAHNIHTGELVRIYKGHNHAVTVVNILGKVMVTACLDKFVRVYELQSHDRLQVYGGHKDMIMCMTIHKSVIYTGCYDGSIQAVRLNLMQNYRCWWYGCTLIFGVVDHLKQHLLTDHTNPNFQTLKCRWRNCDAFFTARKGSKQDVAGHIERHAEDDSKIDS
UniProt ID: O88466
Variant: P -> S at position 1188-1188
Variant annotation: in strain: C57BL/6
Protein function: RNA-binding protein . Specifically binds to 5'-GGGGCC-3' sequence repeats in RNA . Essential for maintenance of peripheral motor neuron and skeletal muscle function . Required for normal expression and/or alternative splicing of a number of genes in spinal cord and skeletal muscle, including the neurite outgrowth inhibitor RTN4 . Also contributes to normal mitochondrial respiratory function in motor neurons, via an unknown mechanism .
Reference sequence:
MVRERKCILCHIVYGSKKEMDEHMRSMLHHRELENLKGRDISHECRVCRVTEVGLSAYAKHISGQLHKDNVDAQEREDDGKEEEEEEYFDKELVQLIQERKEQSRQDEPPSNSQEVNSDDRQPQWRREDRIPYQDRESYSQPPRHHRGPPQRDWKWEKDGFNSTRKNSFPHSLRNSGGPRGSSVWHKGATRGSSTWFLNHSNSGGGWHSNNGMVDWNYNGTGRNSSWHSEGTGGFPSWHMNNSNGNWKSSVRGTNSWNYNGLGDKFQQGRNRNPNYQMEDMTKMWNKKSNKPSKYSQERCKWQRQDRDKAAKYRSPPEGYASDTFPSEGLLEFNFEQRESQTTKQTDTAASKINGKNGTKARDKFRRWTPYPSQKTLDLQSALKEVIGSKSDTLEKPLFNFSLITAGLRKPVDKTSNPPVIKTQKAGPPGSPSHKAISDGTAFCEVARACSITEQSEPHQKSNKIPLLKSPLLPLPTPKSGPHKQNLKNRSKNKETKSFPSGDHSHLLNTSTLEGSHGSSYTSKSLGLCPRVLKENKTVSGTQKEPDEKLNNTSQKAQDTVLQCPKTLQNPLPTTPKRMENDAKESSVEESAKDSLSIESQPHSAGNSAMTSDAENHGIKSEGVASLTTEVVSCSTHTVDKEQGSQIPGTPENLSTSPRNSTVLQKEAEVQVSAATSPHSGLLLDLKTSLEDAQDNNLVKSDGPFETESFEDTSLDTELQKPDLNNQPPGTLLPELSKLGFPASLQRDLSRHISLKSKTGTHLPEPNLNSARRIRNVSGHRKNETEKESGLKPTLRQILNASRRNVNWEQVIQQVTKKKQELGKGLPRFGIEMVPLVQNEQEVLDLDEEPDLSSLEGFQWEGVSIPSSSGLARKRSLSESSVVMDRAPVYSFFTGEGTGKENEAQQSPSPNTALSAAQSQKTAMYLEQEVAPLTPSVGTGERVGNIPTQRRHSAQLPSGHIMPVMHSARDLHSQERSTPLSERHAQESTGEGNSLSSNASSGHAVSSLADAATDSSCTSGAEQTDGHSIRKKRRATGDGSSPELPSLERKNKRRKIKGKKERSQVDQLLTISLREEELSKSLQCMDNKLLQARAALQTAYVEVQRLLVLKQQITVEMSALRTHRIQILQGLQETYEPPEHPDQAPCSLISREQRNSRSQTSFETALLPAPFFPGFLDPPPSHASLPSPGNPLQITMSTFQAHGTAPDSSVQIKQEPMSPEQEGNMNALPQGCASNVSKELLQTNRVVDDGSSVYPAIPAVIASESTENCQEVSKDLNFSVEQGNSRSKGNSPSCQSPDLPGINRGEETAKGSSGSEACSSSFLRLSFTPETPAEKETQSPADQPEQQAESTLASAETRGSKKKKKLRKKKTLRATHVPENSDTEQDVFTAKPARKVKTAKAAKGAKVTTSQTGQEQGTARDEPDSDSSLEVLEVTNPQLEVVAIDTSESGDEKPDSPSKKDAWIAAEQNPIETSRSGCDEVSSTSELGTRYKDGVPVSVAETQTVISIKASKHSSEISSEPGDDEEPTEGSFEGHQAAVNAIQIFGNFLYTCSADTTVRVYNLVSRKCVGVFEGHTSKVNCLLVTHTSGKSSVLYTGSSDHTIRCYNIKTRECMEQLQLEDRVLCLHNRWRTLYAGLANGTVVTFDIKNNKRQEIFECHGPRAVSCLATAQEGARKLLVVGSYDCTISVRDARNGLLLRTLEGHSKTVLCMKVVNDLVFSGSSDQSVHAHNIHTGELVRIYKGHNHAVTVVNILGKVMVTACLDKFVRVYELQSHDRLQVYGGHKDMIMCMTIHKSVIYTGCYDGSIQAVRLNLMQNYRCWWYGCTLIFGVVDHLKQHLLTDHTNPNFQTLKCRWRNCDAFFTARKGSKQDVAGHIERHAEDDSKIDS
UniProt ID: O88466
Variant: MSTF -> TCTL at position 1196-1199
Variant annotation: in strain: C57BL/6
Protein function: RNA-binding protein . Specifically binds to 5'-GGGGCC-3' sequence repeats in RNA . Essential for maintenance of peripheral motor neuron and skeletal muscle function . Required for normal expression and/or alternative splicing of a number of genes in spinal cord and skeletal muscle, including the neurite outgrowth inhibitor RTN4 . Also contributes to normal mitochondrial respiratory function in motor neurons, via an unknown mechanism .
Reference sequence:
MVRERKCILCHIVYGSKKEMDEHMRSMLHHRELENLKGRDISHECRVCRVTEVGLSAYAKHISGQLHKDNVDAQEREDDGKEEEEEEYFDKELVQLIQERKEQSRQDEPPSNSQEVNSDDRQPQWRREDRIPYQDRESYSQPPRHHRGPPQRDWKWEKDGFNSTRKNSFPHSLRNSGGPRGSSVWHKGATRGSSTWFLNHSNSGGGWHSNNGMVDWNYNGTGRNSSWHSEGTGGFPSWHMNNSNGNWKSSVRGTNSWNYNGLGDKFQQGRNRNPNYQMEDMTKMWNKKSNKPSKYSQERCKWQRQDRDKAAKYRSPPEGYASDTFPSEGLLEFNFEQRESQTTKQTDTAASKINGKNGTKARDKFRRWTPYPSQKTLDLQSALKEVIGSKSDTLEKPLFNFSLITAGLRKPVDKTSNPPVIKTQKAGPPGSPSHKAISDGTAFCEVARACSITEQSEPHQKSNKIPLLKSPLLPLPTPKSGPHKQNLKNRSKNKETKSFPSGDHSHLLNTSTLEGSHGSSYTSKSLGLCPRVLKENKTVSGTQKEPDEKLNNTSQKAQDTVLQCPKTLQNPLPTTPKRMENDAKESSVEESAKDSLSIESQPHSAGNSAMTSDAENHGIKSEGVASLTTEVVSCSTHTVDKEQGSQIPGTPENLSTSPRNSTVLQKEAEVQVSAATSPHSGLLLDLKTSLEDAQDNNLVKSDGPFETESFEDTSLDTELQKPDLNNQPPGTLLPELSKLGFPASLQRDLSRHISLKSKTGTHLPEPNLNSARRIRNVSGHRKNETEKESGLKPTLRQILNASRRNVNWEQVIQQVTKKKQELGKGLPRFGIEMVPLVQNEQEVLDLDEEPDLSSLEGFQWEGVSIPSSSGLARKRSLSESSVVMDRAPVYSFFTGEGTGKENEAQQSPSPNTALSAAQSQKTAMYLEQEVAPLTPSVGTGERVGNIPTQRRHSAQLPSGHIMPVMHSARDLHSQERSTPLSERHAQESTGEGNSLSSNASSGHAVSSLADAATDSSCTSGAEQTDGHSIRKKRRATGDGSSPELPSLERKNKRRKIKGKKERSQVDQLLTISLREEELSKSLQCMDNKLLQARAALQTAYVEVQRLLVLKQQITVEMSALRTHRIQILQGLQETYEPPEHPDQAPCSLISREQRNSRSQTSFETALLPAPFFPGFLDPPPSHASLPSPGNPLQITMSTFQAHGTAPDSSVQIKQEPMSPEQEGNMNALPQGCASNVSKELLQTNRVVDDGSSVYPAIPAVIASESTENCQEVSKDLNFSVEQGNSRSKGNSPSCQSPDLPGINRGEETAKGSSGSEACSSSFLRLSFTPETPAEKETQSPADQPEQQAESTLASAETRGSKKKKKLRKKKTLRATHVPENSDTEQDVFTAKPARKVKTAKAAKGAKVTTSQTGQEQGTARDEPDSDSSLEVLEVTNPQLEVVAIDTSESGDEKPDSPSKKDAWIAAEQNPIETSRSGCDEVSSTSELGTRYKDGVPVSVAETQTVISIKASKHSSEISSEPGDDEEPTEGSFEGHQAAVNAIQIFGNFLYTCSADTTVRVYNLVSRKCVGVFEGHTSKVNCLLVTHTSGKSSVLYTGSSDHTIRCYNIKTRECMEQLQLEDRVLCLHNRWRTLYAGLANGTVVTFDIKNNKRQEIFECHGPRAVSCLATAQEGARKLLVVGSYDCTISVRDARNGLLLRTLEGHSKTVLCMKVVNDLVFSGSSDQSVHAHNIHTGELVRIYKGHNHAVTVVNILGKVMVTACLDKFVRVYELQSHDRLQVYGGHKDMIMCMTIHKSVIYTGCYDGSIQAVRLNLMQNYRCWWYGCTLIFGVVDHLKQHLLTDHTNPNFQTLKCRWRNCDAFFTARKGSKQDVAGHIERHAEDDSKIDS
UniProt ID: O88803
Variant: I -> V at position 129-129
Protein function: Has a neutrophil chemotactic activity. Also a positive regulator of chondrocyte proliferation.
Reference sequence:
MIPTTILISAALLSSALAGPWANICASKSSNEIRTCDSYGCGQYSAQRTQRHHPGVDVLCSDGSVVYAPFTGKIVGQEKPYRNKNAINDGIRLSGRGFCVKIFYIKPIKYKGSIKKGEKLGTLLPLQKIYPGIQSHVHVENCDSSDPTAYL
UniProt ID: O88968
Variant: G -> E at position 102-102
Variant annotation: in strain: NZB
Protein function: Primary vitamin B12-binding and transport protein. Delivers cobalamin to cells.
Reference sequence:
MELLKALLLLSGVFGALAEFCVIPRIDSQLVEKLGQRLLPWMDRLSSEQLNPSVFVGLRLSSMQAGTKEDLYLHSLKIHYQQCLLRSTSSDDNSSCQPKLSGGSLALYLLALRANCEFFGSRKGDRLISQLKWFLEDEKKAIGHNHEGHPNTNYYQYGLSILALCVHQKRLHDSVVGKLLYAVEHDYFTYQGHVSVDTEAMAGLALTCLERFNFNSDLRPRITMAIETVREKILKSQAPEGYFGNIYSTPLALQMLMTSPASGVGLGTACIKAGTSLLLSLQDGAFQNPLMISQLLPILNHKTYLDLIFPDCQASRVMLVPAVEDPVHISEVISVTLKVASALSPYEQTFFVFAGSSLEDVLKLAQDGGGFTYGTQASLSGPYLTSVLGKDAGDREYWQLLRAPDTPLLQGIADYKPQDGETIELRLVRW
UniProt ID: O89029
Variant: A -> E at position 319-319
Variant annotation: in strain: C57BL/6J
Protein function: Major component of the extracellular matrix of cartilage.
Reference sequence:
MRGPCCWPLSLLLLFLQSWETQLQSAGPRCYNGPLDLVFMIDSSRSVRPFEFETMRQFLVGLLRSLDVGLNATRVGVIQYSSQVQSVFPLGAFSRREDMERAIRAVVPLAQGTMTGLAIQYAMNVAFSEAEGARPSEERVPRVLVIVTDGRPQDRVAEVAAQARARGIEIYAVGVQRADVGSLRTMASPPLDQHVFLVESFDLIQEFGLQFQGRLCGKDLCAELVHGCQHLCVNAPGTFYCACNSGYKLAPDNKNCLALDLCAEGTHGCEHLCVNSVDSYFCRCRAGFALQQDQRSCRAIDYCSFGNHSCQHECVSTLAGPQCRCREGHDLLPDGRSCRVRDFCNGVDHGCEFQCVSEGLSFHCLCPEGRRLQADGKSCDRCREGHVDLVLLVDGSKSVRPQNFELVKRFVNQIVDFLDVSPEGTRVGLVQFSSRVRTEFPLGRYGTAAEVKQAVLAVEYMERGTMTGLALRHMVEHSFSEAQGARPRDLNVPRVGLVFTDGRSQDDISVWAARAKEEGIVMYAVGVGKAVEEELREIASEPSELHVSYSPDFSTMTHLLENLKGSICPEEGIGAGTELRSPCECESLVEFQGRTLGALESLTQNLARLTERLEELENQLASRK
UniProt ID: O89029
Variant: G -> D at position 346-346
Variant annotation: in strain: C57BL/6J
Protein function: Major component of the extracellular matrix of cartilage.
Reference sequence:
MRGPCCWPLSLLLLFLQSWETQLQSAGPRCYNGPLDLVFMIDSSRSVRPFEFETMRQFLVGLLRSLDVGLNATRVGVIQYSSQVQSVFPLGAFSRREDMERAIRAVVPLAQGTMTGLAIQYAMNVAFSEAEGARPSEERVPRVLVIVTDGRPQDRVAEVAAQARARGIEIYAVGVQRADVGSLRTMASPPLDQHVFLVESFDLIQEFGLQFQGRLCGKDLCAELVHGCQHLCVNAPGTFYCACNSGYKLAPDNKNCLALDLCAEGTHGCEHLCVNSVDSYFCRCRAGFALQQDQRSCRAIDYCSFGNHSCQHECVSTLAGPQCRCREGHDLLPDGRSCRVRDFCNGVDHGCEFQCVSEGLSFHCLCPEGRRLQADGKSCDRCREGHVDLVLLVDGSKSVRPQNFELVKRFVNQIVDFLDVSPEGTRVGLVQFSSRVRTEFPLGRYGTAAEVKQAVLAVEYMERGTMTGLALRHMVEHSFSEAQGARPRDLNVPRVGLVFTDGRSQDDISVWAARAKEEGIVMYAVGVGKAVEEELREIASEPSELHVSYSPDFSTMTHLLENLKGSICPEEGIGAGTELRSPCECESLVEFQGRTLGALESLTQNLARLTERLEELENQLASRK
UniProt ID: O93803
Variant: P -> S at position 12-12
Variant annotation: in strain: IFO 1060
Protein function: First step of mRNA capping. Converts the 5'-triphosphate end of a nascent mRNA chain into a diphosphate end.
Reference sequence:
MNVGSILNDDPPSSGNANGNDDNTKIIKSPTAYHKPSVHERHSITSMLNDTPSDSTPTKKPEPTISPEFRKPSISSLTSPSVAHKPPPLPPSSSSVGSSEHSSARSSPAITKRNSIANIIDAYEEPATKTEKKAELNSPKINQSTPVPKLEEHENDTNKVEKVVDSAPEPKPKKEPQPVFDDQDDDLTKIKKLKQSKKPRRYETPPIWAQRWVPPNRQKEETNVDDGNEAITRLSEKPVFDYTTTRSVDLECSITGMIPPSSITRKIAEWVYANFSNVEEKSKRNVELELKFGKIIDKRSGNRIDLNVVTECIFTDHSSVFFDMQVEEVAWKEITKFLDELEKSFQEGKKGRKFKTLESDNTDSFYQLGRKGEHPKRIRVTKDNLLSPPRLVAIQKERVADLYIHNPGSLFDLRLSMSLEIPVPQGNIESIITKNKPEMVREKKRISYTHPPTITKFDLTRVIGNKTEDKYEVELEAGVMEIFAAIDKIQKGVDNLRLEELIEVFLNNARTLNNRLNKIC
UniProt ID: O94761
Variant: Q -> R at position 54-54
Variant annotation: in dbSNP:rs35198096
Protein function: DNA-dependent ATPase. May modulate chromosome segregation.
Reference sequence:
MERLRDVRERLQAWERAFRRQRGRRPSQDDVEAAPEETRALYREYRTLKRTTGQAGGGLRSSESLPAAAEEAPEPRCWGPHLNRAATKSPQSTPGRSRQGSVPDYGQRLKANLKGTLQAGPALGRRPWPLGRASSKASTPKPPGTGPVPSFAEKVSDEPPQLPEPQPRPGRLQHLQASLSQRLGSLDPGWLQRCHSEVPDFLGAPKACRPDLGSEESQLLIPGESAVLGPGAGSQGPEASAFQEVSIRVGSPQPSSSGGEKRRWNEEPWESPAQVQQESSQAGPPSEGAGAVAVEEDPPGEPVQAQPPQPCSSPSNPRYHGLSPSSQARAGKAEGTAPLHIFPRLARHDRGNYVRLNMKQKHYVRGRALRSRLLRKQAWKQKWRKKGECFGGGGATVTTKESCFLNEQFDHWAAQCPRPASEEDTDAVGPEPLVPSPQPVPEVPSLDPTVLPLYSLGPSGQLAETPAEVFQALEQLGHQAFRPGQERAVMRILSGISTLLVLPTGAGKSLCYQLPALLYSRRSPCLTLVVSPLLSLMDDQVSGLPPCLKAACIHSGMTRKQRESVLQKIRAAQVHVLMLTPEALVGAGGLPPAAQLPPVAFACIDEAHCLSQWSHNFRPCYLRVCKVLRERMGVHCFLGLTATATRRTASDVAQHLAVAEEPDLHGPAPVPTNLHLSVSMDRDTDQALLTLLQGKRFQNLDSIIIYCNRREDTERIAALLRTCLHAAWVPGSGGRAPKTTAEAYHAGMCSRERRRVQRAFMQGQLRVVVATVAFGMGLDRPDVRAVLHLGLPPSFESYVQAVGRAGRDGQPAHCHLFLQPQGEDLRELRRHVHADSTDFLAVKRLVQRVFPACTCTCTRPPSEQEGAVGGERPVPKYPPQEAEQLSHQAAPGPRRVCMGHERALPIQLTVQALDMPEEAIETLLCYLELHPHHWLELLATTYTHCRLNCPGGPAQLQALAHRCPPLAVCLAQQLPEDPGQGSSSVEFDMVKLVDSMGWELASVRRALCQLQWDHEPRTGVRRGTGVLVEFSELAFHLRSPGDLTAEEKDQICDFLYGRVQARERQALARLRRTFQAFHSVAFPSCGPCLEQQDEERSTRLKDLLGRYFEEEEGQEPGGMEDAQGPEPGQARLQDWEDQVRCDIRQFLSLRPEEKFSSRAVARIFHGIGSPCYPAQVYGQDRRFWRKYLHLSFHALVGLATEELLQVAR
UniProt ID: O94761
Variant: E -> G at position 71-71
Variant annotation: in dbSNP:rs34642881
Protein function: DNA-dependent ATPase. May modulate chromosome segregation.
Reference sequence:
MERLRDVRERLQAWERAFRRQRGRRPSQDDVEAAPEETRALYREYRTLKRTTGQAGGGLRSSESLPAAAEEAPEPRCWGPHLNRAATKSPQSTPGRSRQGSVPDYGQRLKANLKGTLQAGPALGRRPWPLGRASSKASTPKPPGTGPVPSFAEKVSDEPPQLPEPQPRPGRLQHLQASLSQRLGSLDPGWLQRCHSEVPDFLGAPKACRPDLGSEESQLLIPGESAVLGPGAGSQGPEASAFQEVSIRVGSPQPSSSGGEKRRWNEEPWESPAQVQQESSQAGPPSEGAGAVAVEEDPPGEPVQAQPPQPCSSPSNPRYHGLSPSSQARAGKAEGTAPLHIFPRLARHDRGNYVRLNMKQKHYVRGRALRSRLLRKQAWKQKWRKKGECFGGGGATVTTKESCFLNEQFDHWAAQCPRPASEEDTDAVGPEPLVPSPQPVPEVPSLDPTVLPLYSLGPSGQLAETPAEVFQALEQLGHQAFRPGQERAVMRILSGISTLLVLPTGAGKSLCYQLPALLYSRRSPCLTLVVSPLLSLMDDQVSGLPPCLKAACIHSGMTRKQRESVLQKIRAAQVHVLMLTPEALVGAGGLPPAAQLPPVAFACIDEAHCLSQWSHNFRPCYLRVCKVLRERMGVHCFLGLTATATRRTASDVAQHLAVAEEPDLHGPAPVPTNLHLSVSMDRDTDQALLTLLQGKRFQNLDSIIIYCNRREDTERIAALLRTCLHAAWVPGSGGRAPKTTAEAYHAGMCSRERRRVQRAFMQGQLRVVVATVAFGMGLDRPDVRAVLHLGLPPSFESYVQAVGRAGRDGQPAHCHLFLQPQGEDLRELRRHVHADSTDFLAVKRLVQRVFPACTCTCTRPPSEQEGAVGGERPVPKYPPQEAEQLSHQAAPGPRRVCMGHERALPIQLTVQALDMPEEAIETLLCYLELHPHHWLELLATTYTHCRLNCPGGPAQLQALAHRCPPLAVCLAQQLPEDPGQGSSSVEFDMVKLVDSMGWELASVRRALCQLQWDHEPRTGVRRGTGVLVEFSELAFHLRSPGDLTAEEKDQICDFLYGRVQARERQALARLRRTFQAFHSVAFPSCGPCLEQQDEERSTRLKDLLGRYFEEEEGQEPGGMEDAQGPEPGQARLQDWEDQVRCDIRQFLSLRPEEKFSSRAVARIFHGIGSPCYPAQVYGQDRRFWRKYLHLSFHALVGLATEELLQVAR