Sequence information
Variant position: 183 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:
RVGEPCRHGGTCLNTPGSFR
C QCPAGYTGPLCENPAVPCAP
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 RVGEPCRHGGTCLNTPGSFRC QCPAGYTGPLCENPAVPCAP
Mouse RSGTTCRHGGTCLNTPGSFRC QCPLGYTGLLCENPVVPCAP
Rat RAGASCRHGGTCINTPGSFHC LCPLGYTGLLCENPIVPCAP
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.
Type Positions Description
Chain
40 – 2321
Neurogenic locus notch homolog protein 3
Topological domain
40 – 1643
Extracellular
Domain
158 – 195
EGF-like 4; calcium-binding
Disulfide bond
168 – 183
Literature citations
Quantitative MRI in CADASIL: correlation with disability and cognitive performance.
Dichgans M.; Filippi M.; Bruening R.; Iannucci G.; Berchtenbreiter C.; Minicucci L.; Uttner I.; Crispin A.; Ludwig H.; Gasser T.; Yousry T.A.;
Neurology 52:1361-1367(1999)
Cited for: VARIANTS CADASIL1 CYS-90; PHE-117; CYS-133; CYS-141; CYS-169; TYR-174; CYS-182 AND ARG-183;
Small in-frame deletions and missense mutations in CADASIL: 3D models predict misfolding of Notch3 EGF-like repeat domains.
Dichgans M.; Ludwig H.; Mueller-Hoecker J.; Messerschmidt A.; Gasser T.;
Eur. J. Hum. Genet. 8:280-285(2000)
Cited for: VARIANTS CADASIL1 80-ASP--SER-84 DEL; CYS-90; PHE-93; CYS-110; PHE-117; PHE-123; CYS-133; CYS-141; SER-144; TYR-144; CYS-150; 153-ARG--CYS-155 DEL; CYS-153; CYS-169; TYR-174; CYS-182; ARG-183; SER-183; ARG-185 AND PHE-194;
The influence of genetic and cardiovascular risk factors on the CADASIL phenotype.
Singhal S.; Bevan S.; Barrick T.; Rich P.; Markus H.S.;
Brain 127:2031-2038(2004)
Cited for: VARIANTS CADASIL1 ARG-76; CYS-90; CYS-110; CYS-141; CYS-153; CYS-169; CYS-182; ARG-183; CYS-189; SER-194; CYS-207; ARG-251; CYS-332; GLY-440; CYS-607; CYS-953 AND CYS-1231;
Long-term prognosis and causes of death in CADASIL: a retrospective study in 411 patients.
Opherk C.; Peters N.; Herzog J.; Luedtke R.; Dichgans M.;
Brain 127:2533-2539(2004)
Cited for: VARIANTS CADASIL1 GLY-43; PHE-49; CYS-60; SER-65; TRP-76; 77-GLN--CYS-82 DEL; 80-ASP--SER-84 DEL; ARG-87; TYR-87; CYS-90; PHE-93; TRP-106; TYR-108; CYS-110; PHE-117; PHE-123; CYS-133; TRP-134; CYS-141; SER-144; TYR-144; CYS-145; CYS-149; CYS-150; 153-ARG--155-CYS DEL; CYS-153; SER-155; CYS-169; ARG-174; TYR-174; CYS-182; ARG-183; SER-183; PHE-183; ARG-185; PHE-194; TYR-201; CYS-207; TYR-233; 239-ASP--ASP-253 DEL; SER-240; ARG-245; TYR-260; CYS-332; CYS-335; CYS-337; SER-379; ARG-395; CYS-421; TYR-428; ARG-440; SER-446; TYR-484; TYR-495; ARG-511; TYR-549; CYS-558; CYS-985 AND TYR-1261;
Disclaimer:
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.