Variant position: 151 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 GQFPDIKSRIAKRGRKLVDY DSARHHYESLQTAKKKDEAKI
Mouse GQFPDIKSRIAKRGRKLVDY DSARHHYESLQTAKKKDEAKI
Rat GQFPDIKSRIAKRGRKLVDY DSARHHYESLQTAKKKDEAKI
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.
Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy.
Nicot A.-S.; Toussaint A.; Tosch V.; Kretz C.; Wallgren-Pettersson C.; Iwarsson E.; Kingston H.; Garnier J.-M.; Biancalana V.; Oldfors A.; Mandel J.-L.; Laporte J.;
Nat. Genet. 39:1134-1139(2007)
Cited for: INTERACTION WITH DNM2; INVOLVEMENT IN CNM2; VARIANTS CNM2 ASN-35; ASN-151 AND 575-LYS--PRO-593 DEL; CHARACTERIZATION OF VARIANTS CNM2 ASN-151 AND 575-LYS--PRO-593 DEL;
Mutations in BIN1 associated with centronuclear myopathy disrupt membrane remodeling by affecting protein density and oligomerization.
Wu T.; Shi Z.; Baumgart T.;
PLoS ONE 9:E93060-E93060(2014)
Cited for: FUNCTION; CHARACTERIZATION OF VARIANTS CNM2 ASN-151 AND GLN-154;
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