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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9UM47: Variant p.Cys440Gly

Neurogenic locus notch homolog protein 3
Gene: NOTCH3
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Variant information Variant position: help 440
Type of variant: help LP/P [Disclaimer]
Residue change: help From Cysteine (C) to Glycine (G) at position 440 (C440G, p.Cys440Gly).
Physico-chemical properties: help Change from medium size and polar (C) to glycine (G)
BLOSUM score: help -3
Variant description: help In CADASIL1.


Sequence information Variant position: help 440
Protein sequence length: help 2321
Location on the sequence: help GRGYTGPRCETDVNECLSGP C RNQATCLDRIGQFTCICMAG
Residue conservation: help
Human                         GRGYTGPRCETDVNECLSGPCRNQATCLDRIGQFTCICMAG

Mouse                         GRGYTGPRCETDVNECLSGPCRNQATCLDRIGQFTCICMAG

Rat                           GRGYTGPRCETDVNECLSGPCRNQATCLDRIGQFTCICMAG

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 40 – 2321 Neurogenic locus notch homolog protein 3
Topological domain 40 – 1643 Extracellular
Domain 431 – 467 EGF-like 11; calcium-binding
Disulfide bond 435 – 446
Disulfide bond 440 – 455



Literature citations
CADASIL: a common form of hereditary arteriopathy causing brain infarcts and dementia.
Kalimo H.; Ruchoux M.-M.; Viitanen M.; Kalaria R.N.;
Brain Pathol. 12:371-384(2002)
Cited for: VARIANTS CADASIL1 ARG-76; TYR-93; TYR-128; CYS-142; ARG-194; TYR-222; SER-233; ARG-251; CYS-420; GLY-440; CYS-449; CYS-953 AND CYS-1021; The influence of genetic and cardiovascular risk factors on the CADASIL phenotype.
Singhal S.; Bevan S.; Barrick T.; Rich P.; Markus H.S.;
Brain 127:2031-2038(2004)
Cited for: VARIANTS CADASIL1 ARG-76; CYS-90; CYS-110; CYS-141; CYS-153; CYS-169; CYS-182; ARG-183; CYS-189; SER-194; CYS-207; ARG-251; CYS-332; GLY-440; CYS-607; CYS-953 AND CYS-1231;
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.