sujigwak/NVAR huggingface dataset:
UniProt ID: O88466
Variant: S -> T at position 293-293
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: A -> P at position 447-447
Variant annotation: in strain: C57BL/6 and 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: S -> P at position 451-451
Variant annotation: in strain: C57BL/6 and 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: L -> R at position 526-526
Variant annotation: in strain: C57BL/6 and 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: N -> S at position 552-552
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: M -> T at position 579-579
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: T -> A at position 656-656
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: R -> C at position 659-659
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: D -> N at position 685-685
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