Sequence information
Variant position: 71 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:
NGGRCTQLPSREAACLCPPG
W VGERCQLEDPCHSGPCAGRG
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 NGGRCT-QLPSREAACLCPPGW VGERCQLEDPCHSGPCAGRG
Mouse NGGRCTHQQPSLEAACLCLPGW VGERCQLEDPCHSGPCAGR
Rat NGGRCTHQQPSREAACLCLPGW VGERCQLEDPCHSGPCAGR
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
40 – 77
EGF-like 1
Disulfide bond
67 – 76
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;
Hypomorphic NOTCH3 alleles do not cause CADASIL in humans.
Rutten J.W.; Boon E.M.; Liem M.K.; Dauwerse J.G.; Pont M.J.; Vollebregt E.; Maat-Kievit A.J.; Ginjaar H.B.; Lakeman P.; van Duinen S.G.; Terwindt G.M.; Lesnik Oberstein S.A.;
Hum. Mutat. 34:1486-1489(2013)
Cited for: VARIANT CADASIL1 CYS-710;
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.