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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9UM47: Variant p.Cys108Trp

Neurogenic locus notch homolog protein 3
Gene: NOTCH3
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Variant information Variant position: help 108
Type of variant: help LP/P [Disclaimer]
Residue change: help From Cysteine (C) to Tryptophan (W) at position 108 (C108W, p.Cys108Trp).
Physico-chemical properties: help Change from medium size and polar (C) to large size and aromatic (W)
BLOSUM score: help -2
Variant description: help In CADASIL1.
Other resources: help


Sequence information Variant position: help 108
Protein sequence length: help 2321
Location on the sequence: help AGRGVCQSSVVAGTARFSCR C PRGFRGPDCSLPDPCLSSPC
Residue conservation: help
Human                         AGRGVCQSSVVAGTARFSCRCPRGFRGPDCSLPDPCLSSPC

Mouse                         AGRGVCQSSVVAGTARFSCRCLRGFQGPDCSQPDPCVSRPC

Rat                           AGRGVCQSSVVAGVARFSCRCLRGFRGPDCSLPDPCFSSPC

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 40 – 2321 Neurogenic locus notch homolog protein 3
Topological domain 40 – 1643 Extracellular
Domain 78 – 118 EGF-like 2
Disulfide bond 108 – 117



Literature citations
Gene symbol: NOTCH3. Disease: CADASIL.
Rojas-Marcos I.; Encarnacion M.; Martinez-Yelamos S.; Ferrer I.; Arbizu T.; Gil-Peralta A.; Garcia-Lozano J.R.;
Hum. Genet. 115:175-175(2004)
Cited for: VARIANT CADASIL1 TRP-108;
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.