Variant position: 307 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 495 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human FGCNKETTRCFGTVVGDTPA YLYEERWTPPCCLRALRETAR
Mouse FGCSKESARCFGTVAGDTPA YLYEGRWTPPCCLRALRETAR
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Identification of a Post-translational Modification with Ribitol-Phosphate and Its Defect in Muscular Dystrophy.
Kanagawa M.; Kobayashi K.; Tajiri M.; Manya H.; Kuga A.; Yamaguchi Y.; Akasaka-Manya K.; Furukawa J.I.; Mizuno M.; Kawakami H.; Shinohara Y.; Wada Y.; Endo T.; Toda T.;
Cell Rep. 14:2209-2223(2016)
Cited for: FUNCTION; CATALYTIC ACTIVITY; PATHWAY; SUBCELLULAR LOCATION; MUTAGENESIS OF ASP-362; VARIANT ASN-307;
Phenotypic spectrum associated with mutations in the fukutin-related protein gene.
Mercuri E.; Brockington M.; Straub V.; Quijano-Roy S.; Yuva Y.; Herrmann R.; Brown S.C.; Torelli S.; Dubowitz V.; Blake D.J.; Romero N.B.; Estournet B.; Sewry C.A.; Guicheney P.; Voit T.; Muntoni F.;
Ann. Neurol. 53:537-542(2003)
Cited for: VARIANTS MDDGB5 CYS-309; HIS-339 AND LEU-448; VARIANTS MDDGC5 ILE-276; ASN-307; SER-316; ASN-360 AND SER-462;
Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.
Beltran-Valero de Bernabe D.; Voit T.; Longman C.; Steinbrecher A.; Straub V.; Yuva Y.; Herrmann R.; Sperner J.; Korenke C.; Diesen C.; Dobyns W.B.; Brunner H.G.; van Bokhoven H.; Brockington M.; Muntoni F.;
J. Med. Genet. 41:E61-E61(2004)
Cited for: VARIANTS MDDGA5 ASN-307 AND TYR-318;
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