Sequence information
Variant position: 110 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:
RGVCQSSVVAGTARFSCRCP
R GFRGPDCSLPDPCLSSPCAH
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 RGVCQSSVVAGTARFSCRCPR GFRGPDCSLPDPCLSSPCAH
Mouse RGVCQSSVVAGTARFSCRCLR GFQGPDCSQPDPCVSRPCVH
Rat RGVCQSSVVAGVARFSCRCLR GFRGPDCSLPDPCFSSPCAH
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
78 – 118
EGF-like 2
Disulfide bond
108 – 117
Literature citations
Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients.
Joutel A.; Vahedi K.; Corpechot C.; Troesch A.; Chabriat H.; Vayssiere C.; Cruaud C.; Maciazek J.; Weissenbach J.; Bousser M.-G.; Bach J.-F.; Tournier-Lasserve E.;
Lancet 350:1511-1515(1997)
Cited for: VARIANTS CADASIL1 TYR-49; CYS-71; CYS-90; CYS-110; CYS-133; CYS-141; ARG-146; CYS-153; CYS-169; CYS-171; CYS-182; ARG-185; SER-212; GLY-222; TYR-224; CYS-258; TYR-542; CYS-558; CYS-578; CYS-728; CYS-985; CYS-1006; CYS-1031; CYS-1231 AND ARG-1261; VARIANTS ARG-170; LEU-496; GLN-1133; MET-1183 AND VAL-2223;
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;
Evaluation of DHPLC analysis in mutational scanning of Notch3, a gene with a high G-C content.
Escary J.-L.; Cecillon M.; Maciazek J.; Lathrop M.; Tournier-Lasserve E.; Joutel A.;
Hum. Mutat. 16:518-526(2000)
Cited for: VARIANTS CADASIL1 TYR-49; CYS-54; CYS-90; CYS-110; 114-GLY--PRO-120 DEL; TYR-123; CYS-133; CYS-141; ARG-146; CYS-153; SER-162; CYS-169; TYR-174; CYS-180; CYS-182; ARG-185; TYR-194; TYR-206; CYS-207; SER-212; GLY-222; TYR-224; CYS-258; TYR-542; CYS-558; CYS-578; CYS-607; CYS-728; CYS-984; CYS-985; CYS-1006; CYS-1031; CYS-1231 AND ARG-1261;
Skin biopsy immunostaining with a Notch3 monoclonal antibody for CADASIL diagnosis.
Joutel A.; Favrole P.; Labauge P.; Chabriat H.; Lescoat C.; Andreux F.; Domenga V.; Cecillon M.; Vahedi K.; Ducros A.; Cave-Riant F.; Bousser M.G.; Tournier-Lasserve E.;
Lancet 358:2049-2051(2001)
Cited for: VARIANTS CADASIL1 CYS-110; CYS-133; TRP-134; CYS-141; CYS-153; CYS-182; GLY-185; CYS-207; SER-212; GLY-222; SER-428; CYS-558; CYS-985 AND CYS-1063;
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;
Spectrum of mutations in biopsy-proven CADASIL: implications for diagnostic strategies.
Peters N.; Opherk C.; Bergmann T.; Castro M.; Herzog J.; Dichgans M.;
Arch. Neurol. 62:1091-1094(2005)
Cited for: VARIANTS CADASIL1 GLY-43; PHE-49; CYS-60; SER-65; TRP-76; 80-ASP--SER-84 DEL; ARG-87; CYS-90; PHE-93; TYR-108; CYS-110; PHE-117; PHE-123; CYS-133; TRP-134; CYS-141; SER-144; TYR-144; CYS-149; CYS-150; CYS-153; 153-ARG--CYS-155 DEL; CYS-169; ARG-174; TYR-174; CYS-182; SER-183; PHE-183; ARG-185; PHE-194; CYS-207; TYR-233; SER-240; ARG-245; TYR-260; 239-ASP--ASP-253 DEL; CYS-319; CYS-332; CYS-335; CYS-337; SER-379; ARG-395; CYS-421; TYR-428; ARG-440; PHE-484; TYR-495; ARG-511; TYR-549; CYS-558; CYS-728; SER-775; 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.