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:
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-QLPSREAACLCPPG WVGERCQLEDPCHSGPCAGRG
Mouse NGGRCTHQQPSLEAACLCLPG WVGERCQLEDPCHSGPCAGR
Rat NGGRCTHQQPSREAACLCLPG WVGERCQLEDPCHSGPCAGR
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
40 – 2321 Neurogenic locus notch homolog protein 3
40 – 1643 Extracellular
40 – 77 EGF-like 1
67 – 76
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.;
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;
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