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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9UM47: Variant p.His170Arg

Neurogenic locus notch homolog protein 3
Gene: NOTCH3
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Variant information Variant position: help 170
Type of variant: help LB/B
Residue change: help From Histidine (H) to Arginine (R) at position 170 (H170R, p.His170Arg).
Physico-chemical properties: help Change from medium size and polar (H) to large size and basic (R)
BLOSUM score: help 0
Other resources: help


Sequence information Variant position: help 170
Protein sequence length: help 2321
Location on the sequence: help YQGRSCRSDVDECRVGEPCR H GGTCLNTPGSFRCQCPAGYT
Residue conservation: help 
Human                         YQGRSCRSDVDECRVGEPCRHGGTCLNTPGSFRCQCPAGYT

Mouse                         YQGQSCQSDIDECRSGTTCRHGGTCLNTPGSFRCQCPLGYT

Rat                           YQGRNCRSDIDECRAGASCRHGGTCINTPGSFHCLCPLGYT
Sequence annotation in neighborhood: help
TypePositionsDescription
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
Disulfide bond 168 – 183



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;
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.