Variant position: 323 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1384 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 IGGLVGAARKNLAYRHNFRG CIENVIFNRVNIADLAVRRHS
Mouse IGGLVGAARKNLAYRHNFRG CIENVIYNRINIAEMAVMRHS
Rat IGGLVGAARKNLAYRHNFRG CIENVIYNRINIAEMAVQRHS
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.
Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathy.
Nizon M.; Cogne B.; Vallat J.M.; Joubert M.; Liet J.M.; Simon L.; Vincent M.; Kuery S.; Boisseau P.; Schmitt S.; Mercier S.; Beneteau C.; Larrose C.; Coste M.; Latypova X.; Pereon Y.; Mussini J.M.; Bezieau S.; Isidor B.;
Eur. J. Hum. Genet. 25:150-152(2016)
Cited for: VARIANTS LCCS7 ARG-323 AND 623-TRP--GLU-1384 DEL;
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