Sequence information
Variant position: 162 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:
FLCSCPPGYQGRSCRSDVDE
C RVGEPCRHGGTCLNTPGSFR
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 FLCSCPPGYQGRSCRSDVDEC RVGEPCRHGGTCLNTPGSFR
Mouse FACACPPGYQGQSCQSDIDEC RSGTTCRHGGTCLNTPGSFR
Rat YACACPPGYQGRNCRSDIDEC RAGASCRHGGTCINTPGSFH
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
162 – 174
Literature citations
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;
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.