UniProtKB/SwissProt variant VAR

Neurogenic locus notch homolog protein 3
Gene: NOTCH3
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Variant information Variant position:

108
Type of variant:

LP/P [Disclaimer]
Residue change:

From Cysteine (C) to Tryptophan (W) at position 108 (C108W, p.Cys108Trp).
Physico-chemical properties:

Change from medium size and polar (C) to large size and aromatic (W)
BLOSUM score:

-2
Variant description:

In CADASIL1.
Other resources:

Variant rs763535473 [ dbSNP | Ensembl ]

Sequence information Variant position:

108
Protein sequence length:

2321
Location on the sequence:

AGRGVCQSSVVAGTARFSCR C PRGFRGPDCSLPDPCLSSPC
Residue conservation:

Human                         AGRGVCQSSVVAGTARFSCRCPRGFRGPDCSLPDPCLSSPC

Mouse                         AGRGVCQSSVVAGTARFSCRCLRGFQGPDCSQPDPCVSRPC

Rat                           AGRGVCQSSVVAGVARFSCRCLRGFRGPDCSLPDPCFSSPC

Sequence annotation in neighborhood:

Type	Positions	Description
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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9UM47: Variant p.Cys108Trp