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UniProtKB/Swiss-Prot Q9UM47: Variant p.Cys1261Tyr

Neurogenic locus notch homolog protein 3
Gene: NOTCH3
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Variant information Variant position: help 1261
Type of variant: help LP/P [Disclaimer]
Residue change: help From Cysteine (C) to Tyrosine (Y) at position 1261 (C1261Y, p.Cys1261Tyr).
Physico-chemical properties: help Change from medium size and polar (C) to large size and aromatic (Y)
BLOSUM score: help -2
Variant description: help In CADASIL1.
Other resources: help


Sequence information Variant position: help 1261
Protein sequence length: help 2321
Location on the sequence: help PRCQTVLSPCESQPCQHGGQ C RPSPGPGGGLTFTCHCAQPF
Residue conservation: help 
Human                         PRCQTVLSPCESQPCQHGGQCRPSPGPGGGLTFTCHCAQPF

Mouse                         PRCQIALSPCESQPCQHGGQCRHSLGRGGGLTFTCHCVPPF

Rat                           PRCQTALFPCESQPCQHGGQCRPSLGRGGGLTFTCHCVQPF
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 40 – 2321 Neurogenic locus notch homolog protein 3
Topological domain 40 – 1643 Extracellular
Domain 1246 – 1287 EGF-like 32
Disulfide bond 1250 – 1261
Disulfide bond 1255 – 1275



Literature citations
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--CYS-155 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.