sujigwak/NVAR huggingface dataset:
UniProt ID: O82804
Variant: Q -> QQQQQQQQQQ at position 550-550
Variant annotation: in strain: cv. Wassilewskija
Protein function: May be a transcription factor part of a circadian clock input pathway. Acts within a 'zeitnehmer' feedback loop and is involved in its own circadian regulation. Has no role in regulating circadian clock function in the dark. Part of a corepressor complex consisting of ELF4, ELF3, and LUX involved in the transcriptional regulation of APRR9. The activity of the protein may be decreased in long day conditions due to its interaction with phytochrome B (phyB). Can regulate the initiation of flowering independently of phyB. Also involved in responses to nematode parasitism, like the formation of the nematode feeding structure.
Reference sequence:
MKRGKDEEKILEPMFPRLHVNDADKGGPRAPPRNKMALYEQLSIPSQRFGDHGTMNSRSNNTSTLVHPGPSSQPCGVERNLSVQHLDSSAANQATEKFVSQMSFMENVRSSAQHDQRKMVREEEDFAVPVYINSRRSQSHGRTKSGIEKEKHTPMVAPSSHHSIRFQEVNQTGSKQNVCLATCSKPEVRDQVKANARSGGFVISLDVSVTEEIDLEKSASSHDRVNDYNASLRQESRNRLYRDGGKTRLKDTDNGAESHLATENHSQEGHGSPEDIDNDREYSKSRACASLQQINEEASDDVSDDSMVDSISSIDVSPDDVVGILGQKRFWRARKAIANQQRVFAVQLFELHRLIKVQKLIAASPDLLLDEISFLGKVSAKSYPVKKLLPSEFLVKPPLPHVVVKQRGDSEKTDQHKMESSAENVVGRLSNQGHHQQSNYMPFANNPPASPAPNGYCFPPQPPPSGNHQQWLIPVMSPSEGLIYKPHPGMAHTGHYGGYYGHYMPTPMVMPQYHPGMGFPPPGNGYFPPYGMMPTIMNPYCSSQQQQQQQPNEQMNQFGHPGNLQNTQQQQQRSDNEPAPQQQQQPTKSYPRARKSRQGSTGSSPSGPQGISGSKSFRPFAAVDEDSNINNAPEQTMTTTTTTTRTTVTQTTRDGGGVTRVIKVVPHNAKLASENAARIFQSIQEERKRYDSSKP
UniProt ID: O84616
Variant: Y -> G at position 27-27
Variant annotation: inactive enzyme
Protein function: Chlamydia specific toxin that associates with death domains of tumor necrosis factor family (TNF) receptors and induces apoptosis in mammalian cell lines through a Caspase-dependent mechanism . Probably functions as an oxidoreductase .
Reference sequence:
MMEVFMNFLDQLDLIIQNKHMLEHTFYVKWSKGELTKEQLQAYAKDYYLHIKAFPKYLSAIHSRCDDLEARKLLLDNLMDEENGYPNHIDLWKQFVFALGVTPEELEAHEPSEAAKAKVATFMRWCTGDSLAAGVAALYSYESQIPRIAREKIRGLTEYFGFSNPEDYAYFTEHEEADVRHAREEKALIEMLLKDDADKVLEASQEVTQSLYGFLDSFLDPGTCCSCHQSY
UniProt ID: O86224
Variant: I -> T at position 46-46
Variant annotation: in strain: I69
Protein function: Catalyzes the ATP-dependent phosphorylation of the 3-deoxy-D-manno-octulosonic acid (Kdo) residue in Kdo-lipid IV(A) at the 4-OH position. To a lesser extent, can use GTP instead of ATP as substrate.
Reference sequence:
MHQFQQDNQYFIFNFDRTFEQATEFFQAEFWQKQERVIGSAKGRGITYFLQTEDWFGVNCALRHYYRGGLWGKLNKDRYRFSALETTRSFAEFHLLQRLYEAGLPVPKPIAARIQKGKLGICYQADILTEKIENAQDLTALLQTQTLPKETWMQIGRLIRKLHDLQICHTDLNAHNILLQQTEQGQKCWLLDFDKCGEKSADFWKVQNLNRLKRSFEKEVGRMNIQFTEQNWADLTSAYHQ
UniProt ID: O86224
Variant: E -> D at position 85-85
Variant annotation: in strain: I69
Protein function: Catalyzes the ATP-dependent phosphorylation of the 3-deoxy-D-manno-octulosonic acid (Kdo) residue in Kdo-lipid IV(A) at the 4-OH position. To a lesser extent, can use GTP instead of ATP as substrate.
Reference sequence:
MHQFQQDNQYFIFNFDRTFEQATEFFQAEFWQKQERVIGSAKGRGITYFLQTEDWFGVNCALRHYYRGGLWGKLNKDRYRFSALETTRSFAEFHLLQRLYEAGLPVPKPIAARIQKGKLGICYQADILTEKIENAQDLTALLQTQTLPKETWMQIGRLIRKLHDLQICHTDLNAHNILLQQTEQGQKCWLLDFDKCGEKSADFWKVQNLNRLKRSFEKEVGRMNIQFTEQNWADLTSAYHQ
UniProt ID: O86224
Variant: TWM -> IWR at position 151-153
Variant annotation: in strain: I69
Protein function: Catalyzes the ATP-dependent phosphorylation of the 3-deoxy-D-manno-octulosonic acid (Kdo) residue in Kdo-lipid IV(A) at the 4-OH position. To a lesser extent, can use GTP instead of ATP as substrate.
Reference sequence:
MHQFQQDNQYFIFNFDRTFEQATEFFQAEFWQKQERVIGSAKGRGITYFLQTEDWFGVNCALRHYYRGGLWGKLNKDRYRFSALETTRSFAEFHLLQRLYEAGLPVPKPIAARIQKGKLGICYQADILTEKIENAQDLTALLQTQTLPKETWMQIGRLIRKLHDLQICHTDLNAHNILLQQTEQGQKCWLLDFDKCGEKSADFWKVQNLNRLKRSFEKEVGRMNIQFTEQNWADLTSAYHQ
UniProt ID: O86224
Variant: SA -> LG at position 200-201
Variant annotation: in strain: I69
Protein function: Catalyzes the ATP-dependent phosphorylation of the 3-deoxy-D-manno-octulosonic acid (Kdo) residue in Kdo-lipid IV(A) at the 4-OH position. To a lesser extent, can use GTP instead of ATP as substrate.
Reference sequence:
MHQFQQDNQYFIFNFDRTFEQATEFFQAEFWQKQERVIGSAKGRGITYFLQTEDWFGVNCALRHYYRGGLWGKLNKDRYRFSALETTRSFAEFHLLQRLYEAGLPVPKPIAARIQKGKLGICYQADILTEKIENAQDLTALLQTQTLPKETWMQIGRLIRKLHDLQICHTDLNAHNILLQQTEQGQKCWLLDFDKCGEKSADFWKVQNLNRLKRSFEKEVGRMNIQFTEQNWADLTSAYHQ
UniProt ID: O86404
Variant: A -> V at position 6-6
Variant annotation: in strain: CCUG 17915L
Protein function: Reversibly catalyzes the transfer of the carbamoyl group from carbamoyl phosphate (CP) to the N(epsilon) atom of ornithine (ORN) to produce L-citrulline.
Reference sequence:
DQGAGATYLEPSASQIGHKESIKDTARVLGRMYDAIEYRGFGQEIIEELAKYAGVPVFNGLTNEFHPTQMLADALTMREHSSKPLNQTAFAYVGDARYNMGNSLLILGAKLGMDVRIGAPESLWPSEGIIAAAHAVAKETGAKITLTENAHEAVNGVGFIHTDVWVSMGEPKEVWQERIDLLKDYRVTPELMAASGNPQVKFMHCLPAFHNRETKVGEWIYETFGLNGVEVT
UniProt ID: O86404
Variant: YDA -> FDG at position 33-35
Variant annotation: in strain: CCUG 17915L
Protein function: Reversibly catalyzes the transfer of the carbamoyl group from carbamoyl phosphate (CP) to the N(epsilon) atom of ornithine (ORN) to produce L-citrulline.
Reference sequence:
DQGAGATYLEPSASQIGHKESIKDTARVLGRMYDAIEYRGFGQEIIEELAKYAGVPVFNGLTNEFHPTQMLADALTMREHSSKPLNQTAFAYVGDARYNMGNSLLILGAKLGMDVRIGAPESLWPSEGIIAAAHAVAKETGAKITLTENAHEAVNGVGFIHTDVWVSMGEPKEVWQERIDLLKDYRVTPELMAASGNPQVKFMHCLPAFHNRETKVGEWIYETFGLNGVEVT
UniProt ID: O86404
Variant: EII -> DVV at position 44-46
Variant annotation: in strain: CCUG 17915L
Protein function: Reversibly catalyzes the transfer of the carbamoyl group from carbamoyl phosphate (CP) to the N(epsilon) atom of ornithine (ORN) to produce L-citrulline.
Reference sequence:
DQGAGATYLEPSASQIGHKESIKDTARVLGRMYDAIEYRGFGQEIIEELAKYAGVPVFNGLTNEFHPTQMLADALTMREHSSKPLNQTAFAYVGDARYNMGNSLLILGAKLGMDVRIGAPESLWPSEGIIAAAHAVAKETGAKITLTENAHEAVNGVGFIHTDVWVSMGEPKEVWQERIDLLKDYRVTPELMAASGNPQVKFMHCLPAFHNRETKVGEWIYETFGLNGVEVT
UniProt ID: O86404
Variant: S -> N at position 82-82
Variant annotation: in strain: CCUG 17915L
Protein function: Reversibly catalyzes the transfer of the carbamoyl group from carbamoyl phosphate (CP) to the N(epsilon) atom of ornithine (ORN) to produce L-citrulline.
Reference sequence:
DQGAGATYLEPSASQIGHKESIKDTARVLGRMYDAIEYRGFGQEIIEELAKYAGVPVFNGLTNEFHPTQMLADALTMREHSSKPLNQTAFAYVGDARYNMGNSLLILGAKLGMDVRIGAPESLWPSEGIIAAAHAVAKETGAKITLTENAHEAVNGVGFIHTDVWVSMGEPKEVWQERIDLLKDYRVTPELMAASGNPQVKFMHCLPAFHNRETKVGEWIYETFGLNGVEVT
UniProt ID: O86404
Variant: T -> I at position 88-88
Variant annotation: in strain: CCUG 17915L
Protein function: Reversibly catalyzes the transfer of the carbamoyl group from carbamoyl phosphate (CP) to the N(epsilon) atom of ornithine (ORN) to produce L-citrulline.
Reference sequence:
DQGAGATYLEPSASQIGHKESIKDTARVLGRMYDAIEYRGFGQEIIEELAKYAGVPVFNGLTNEFHPTQMLADALTMREHSSKPLNQTAFAYVGDARYNMGNSLLILGAKLGMDVRIGAPESLWPSEGIIAAAHAVAKETGAKITLTENAHEAVNGVGFIHTDVWVSMGEPKEVWQERIDLLKDYRVTPELMAASGNPQVKFMHCLPAFHNRETKVGEWIYETFGLNGVEVT
UniProt ID: O86404
Variant: G -> A at position 101-101
Variant annotation: in strain: CCUG 17915L
Protein function: Reversibly catalyzes the transfer of the carbamoyl group from carbamoyl phosphate (CP) to the N(epsilon) atom of ornithine (ORN) to produce L-citrulline.
Reference sequence:
DQGAGATYLEPSASQIGHKESIKDTARVLGRMYDAIEYRGFGQEIIEELAKYAGVPVFNGLTNEFHPTQMLADALTMREHSSKPLNQTAFAYVGDARYNMGNSLLILGAKLGMDVRIGAPESLWPSEGIIAAAHAVAKETGAKITLTENAHEAVNGVGFIHTDVWVSMGEPKEVWQERIDLLKDYRVTPELMAASGNPQVKFMHCLPAFHNRETKVGEWIYETFGLNGVEVT
UniProt ID: O86404
Variant: ILG -> VLA at position 106-108
Variant annotation: in strain: CCUG 17915L
Protein function: Reversibly catalyzes the transfer of the carbamoyl group from carbamoyl phosphate (CP) to the N(epsilon) atom of ornithine (ORN) to produce L-citrulline.
Reference sequence:
DQGAGATYLEPSASQIGHKESIKDTARVLGRMYDAIEYRGFGQEIIEELAKYAGVPVFNGLTNEFHPTQMLADALTMREHSSKPLNQTAFAYVGDARYNMGNSLLILGAKLGMDVRIGAPESLWPSEGIIAAAHAVAKETGAKITLTENAHEAVNGVGFIHTDVWVSMGEPKEVWQERIDLLKDYRVTPELMAASGNPQVKFMHCLPAFHNRETKVGEWIYETFGLNGVEVT
UniProt ID: O86404
Variant: E -> K at position 121-121
Variant annotation: in strain: CCUG 17915L
Protein function: Reversibly catalyzes the transfer of the carbamoyl group from carbamoyl phosphate (CP) to the N(epsilon) atom of ornithine (ORN) to produce L-citrulline.
Reference sequence:
DQGAGATYLEPSASQIGHKESIKDTARVLGRMYDAIEYRGFGQEIIEELAKYAGVPVFNGLTNEFHPTQMLADALTMREHSSKPLNQTAFAYVGDARYNMGNSLLILGAKLGMDVRIGAPESLWPSEGIIAAAHAVAKETGAKITLTENAHEAVNGVGFIHTDVWVSMGEPKEVWQERIDLLKDYRVTPELMAASGNPQVKFMHCLPAFHNRETKVGEWIYETFGLNGVEVT
UniProt ID: O86404
Variant: GIIAAAH -> NIIETVQ at position 128-134
Variant annotation: in strain: CCUG 17915L
Protein function: Reversibly catalyzes the transfer of the carbamoyl group from carbamoyl phosphate (CP) to the N(epsilon) atom of ornithine (ORN) to produce L-citrulline.
Reference sequence:
DQGAGATYLEPSASQIGHKESIKDTARVLGRMYDAIEYRGFGQEIIEELAKYAGVPVFNGLTNEFHPTQMLADALTMREHSSKPLNQTAFAYVGDARYNMGNSLLILGAKLGMDVRIGAPESLWPSEGIIAAAHAVAKETGAKITLTENAHEAVNGVGFIHTDVWVSMGEPKEVWQERIDLLKDYRVTPELMAASGNPQVKFMHCLPAFHNRETKVGEWIYETFGLNGVEVT
UniProt ID: O86404
Variant: AKIT -> GRIL at position 142-145
Variant annotation: in strain: CCUG 17915L
Protein function: Reversibly catalyzes the transfer of the carbamoyl group from carbamoyl phosphate (CP) to the N(epsilon) atom of ornithine (ORN) to produce L-citrulline.
Reference sequence:
DQGAGATYLEPSASQIGHKESIKDTARVLGRMYDAIEYRGFGQEIIEELAKYAGVPVFNGLTNEFHPTQMLADALTMREHSSKPLNQTAFAYVGDARYNMGNSLLILGAKLGMDVRIGAPESLWPSEGIIAAAHAVAKETGAKITLTENAHEAVNGVGFIHTDVWVSMGEPKEVWQERIDLLKDYRVTPELMAASGNPQVKFMHCLPAFHNRETKVGEWIYETFGLNGVEVT
UniProt ID: O86404
Variant: AH -> VK at position 150-151
Variant annotation: in strain: CCUG 17915L
Protein function: Reversibly catalyzes the transfer of the carbamoyl group from carbamoyl phosphate (CP) to the N(epsilon) atom of ornithine (ORN) to produce L-citrulline.
Reference sequence:
DQGAGATYLEPSASQIGHKESIKDTARVLGRMYDAIEYRGFGQEIIEELAKYAGVPVFNGLTNEFHPTQMLADALTMREHSSKPLNQTAFAYVGDARYNMGNSLLILGAKLGMDVRIGAPESLWPSEGIIAAAHAVAKETGAKITLTENAHEAVNGVGFIHTDVWVSMGEPKEVWQERIDLLKDYRVTPELMAASGNPQVKFMHCLPAFHNRETKVGEWIYETFGLNGVEVT
UniProt ID: O86404
Variant: N -> K at position 155-155
Variant annotation: in strain: CCUG 17915L
Protein function: Reversibly catalyzes the transfer of the carbamoyl group from carbamoyl phosphate (CP) to the N(epsilon) atom of ornithine (ORN) to produce L-citrulline.
Reference sequence:
DQGAGATYLEPSASQIGHKESIKDTARVLGRMYDAIEYRGFGQEIIEELAKYAGVPVFNGLTNEFHPTQMLADALTMREHSSKPLNQTAFAYVGDARYNMGNSLLILGAKLGMDVRIGAPESLWPSEGIIAAAHAVAKETGAKITLTENAHEAVNGVGFIHTDVWVSMGEPKEVWQERIDLLKDYRVTPELMAASGNPQVKFMHCLPAFHNRETKVGEWIYETFGLNGVEVT
UniProt ID: O86404
Variant: G -> D at position 158-158
Variant annotation: in strain: CCUG 17915L
Protein function: Reversibly catalyzes the transfer of the carbamoyl group from carbamoyl phosphate (CP) to the N(epsilon) atom of ornithine (ORN) to produce L-citrulline.
Reference sequence:
DQGAGATYLEPSASQIGHKESIKDTARVLGRMYDAIEYRGFGQEIIEELAKYAGVPVFNGLTNEFHPTQMLADALTMREHSSKPLNQTAFAYVGDARYNMGNSLLILGAKLGMDVRIGAPESLWPSEGIIAAAHAVAKETGAKITLTENAHEAVNGVGFIHTDVWVSMGEPKEVWQERIDLLKDYRVTPELMAASGNPQVKFMHCLPAFHNRETKVGEWIYETFGLNGVEVT
UniProt ID: O86404
Variant: V -> A at position 174-174
Variant annotation: in strain: CCUG 17915L
Protein function: Reversibly catalyzes the transfer of the carbamoyl group from carbamoyl phosphate (CP) to the N(epsilon) atom of ornithine (ORN) to produce L-citrulline.
Reference sequence:
DQGAGATYLEPSASQIGHKESIKDTARVLGRMYDAIEYRGFGQEIIEELAKYAGVPVFNGLTNEFHPTQMLADALTMREHSSKPLNQTAFAYVGDARYNMGNSLLILGAKLGMDVRIGAPESLWPSEGIIAAAHAVAKETGAKITLTENAHEAVNGVGFIHTDVWVSMGEPKEVWQERIDLLKDYRVTPELMAASGNPQVKFMHCLPAFHNRETKVGEWIYETFGLNGVEVT
UniProt ID: O86404
Variant: SG -> AE at position 195-196
Variant annotation: in strain: CCUG 17915L
Protein function: Reversibly catalyzes the transfer of the carbamoyl group from carbamoyl phosphate (CP) to the N(epsilon) atom of ornithine (ORN) to produce L-citrulline.
Reference sequence:
DQGAGATYLEPSASQIGHKESIKDTARVLGRMYDAIEYRGFGQEIIEELAKYAGVPVFNGLTNEFHPTQMLADALTMREHSSKPLNQTAFAYVGDARYNMGNSLLILGAKLGMDVRIGAPESLWPSEGIIAAAHAVAKETGAKITLTENAHEAVNGVGFIHTDVWVSMGEPKEVWQERIDLLKDYRVTPELMAASGNPQVKFMHCLPAFHNRETKVGEWIYETFGLNGVEVT
UniProt ID: O88428
Variant: G -> R at position 79-79
Variant annotation: in bm; activity abolished
Protein function: Bifunctional enzyme with both ATP sulfurylase and APS kinase activity, which mediates two steps in the sulfate activation pathway. The first step is the transfer of a sulfate group to ATP to yield adenosine 5'-phosphosulfate (APS), and the second step is the transfer of a phosphate group from ATP to APS yielding 3'-phosphoadenylylsulfate/PAPS, the activated sulfate donor used by sulfotransferases . In mammals, PAPS is the sole source of sulfate while APS appears to only be an intermediate in the sulfate-activation pathway. May have an important role in skeletogenesis during postnatal growth.
Reference sequence:
MSANFKMNHKRDQQKSTNVVYQAHHVSRNKRGQVVGTRGGFRGCTVWLTGLSGAGKTTISFALEEYLVSHAIPCYSLDGDNVRHGLNKNLGFSAGDREENIRRIAEVARLFADAGLVCITSFISPFAKDRENARKIHESAGLPFFEIFVDAPLNICESRDVKGLYKRARAGEIKGFTGIDSDYEKPETPECVLKTNLSSVSDCVQQVVELLQEQNIVPHTTIKGIHELFVPENKVDQIRAEAETLPSLPITKLDLQWVQILSEGWATPLKGFMREKEYLQTLHFDTLLDGVVPRDGVINMSIPIVLPVSADDKARLEGCSKFALMYEGRRVALLQDPEFYEHRKEERCSRVWGTATAKHPHIKMVMESGDWLVGGDLQVLERIRWDDGLDQYRLTPLELKQKCKDMNADAVFAFQLRNPVHNGHALLMQDTRRRLLERGYKHPVLLLHPLGGWTKDDDVPLEWRMKQHAAVLEERVLDPKSTIVAIFPSPMLYAGPTEVQWHCRCRMIAGANFYIVGRDPAGMPHPETKKDLYEPTHGGKVLSMAPGLTSVEIIPFRVAAYNKIKKAMDFYDPARHEEFDFISGTRMRKLAREGEDPPDGFMAPKAWKVLTDYYRSLEKTN
UniProt ID: O88428
Variant: R -> K at position 109-109
Protein function: Bifunctional enzyme with both ATP sulfurylase and APS kinase activity, which mediates two steps in the sulfate activation pathway. The first step is the transfer of a sulfate group to ATP to yield adenosine 5'-phosphosulfate (APS), and the second step is the transfer of a phosphate group from ATP to APS yielding 3'-phosphoadenylylsulfate/PAPS, the activated sulfate donor used by sulfotransferases . In mammals, PAPS is the sole source of sulfate while APS appears to only be an intermediate in the sulfate-activation pathway. May have an important role in skeletogenesis during postnatal growth.
Reference sequence:
MSANFKMNHKRDQQKSTNVVYQAHHVSRNKRGQVVGTRGGFRGCTVWLTGLSGAGKTTISFALEEYLVSHAIPCYSLDGDNVRHGLNKNLGFSAGDREENIRRIAEVARLFADAGLVCITSFISPFAKDRENARKIHESAGLPFFEIFVDAPLNICESRDVKGLYKRARAGEIKGFTGIDSDYEKPETPECVLKTNLSSVSDCVQQVVELLQEQNIVPHTTIKGIHELFVPENKVDQIRAEAETLPSLPITKLDLQWVQILSEGWATPLKGFMREKEYLQTLHFDTLLDGVVPRDGVINMSIPIVLPVSADDKARLEGCSKFALMYEGRRVALLQDPEFYEHRKEERCSRVWGTATAKHPHIKMVMESGDWLVGGDLQVLERIRWDDGLDQYRLTPLELKQKCKDMNADAVFAFQLRNPVHNGHALLMQDTRRRLLERGYKHPVLLLHPLGGWTKDDDVPLEWRMKQHAAVLEERVLDPKSTIVAIFPSPMLYAGPTEVQWHCRCRMIAGANFYIVGRDPAGMPHPETKKDLYEPTHGGKVLSMAPGLTSVEIIPFRVAAYNKIKKAMDFYDPARHEEFDFISGTRMRKLAREGEDPPDGFMAPKAWKVLTDYYRSLEKTN
UniProt ID: O88466
Variant: G -> S at position 253-253
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 -> P at position 262-262
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: G -> D at position 269-269
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