Variant position: 234 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 593 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 KVFEEMNVDLQEELPSLWNS RVGFYVNTFQSIAGLEENFHK
Mouse KVFEEMNVDLQEELPSLWNS RVGFYVNTFQSIAGLEENFHK
Rat KVFEEMNVDLQEELPSLWNS RVGFYVNTFQSIAGLEENFHK
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.
A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine.
Cabrera-Serrano M.; Mavillard F.; Biancalana V.; Rivas E.; Morar B.; Hernandez-Lain A.; Olive M.; Muelas N.; Khan E.; Carvajal A.; Quiroga P.; Diaz-Manera J.; Davis M.; Avila R.; Dominguez C.; Romero N.B.; Vilchez J.J.; Comas D.; Laing N.G.; Laporte J.; Kalaydjieva L.; Paradas C.;
Cited for: VARIANTS CNM2 CYS-145 AND CYS-234;
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