Variant position: 174 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2321 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 SCRSDVDECRVGEPCRHGGT CLNTPGSFRCQCPAGYTGPLC
Mouse SCQSDIDECRSGTTCRHGGT CLNTPGSFRCQCPLGYTGLLC
Rat NCRSDIDECRAGASCRHGGT CINTPGSFHCLCPLGYTGLLC
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.
Genetic, clinical and pathological studies of CADASIL in Japan: a partial contribution of Notch3 mutations and implications of smooth muscle cell degeneration for the pathogenesis.
Santa Y.; Uyama E.; Chui D.H.; Arima M.; Kotorii S.; Takahashi K.; Tabira T.;
J. Neurol. Sci. 212:79-84(2003)
Cited for: VARIANTS CADASIL1 CYS-90; CYS-133; CYS-169; ARG-174; PHE-174 AND LYS-213;
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