UniProtKB/SwissProt variant VAR

Protein jagged-1
Gene: JAG1
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Variant information Variant position:

386
Type of variant:

LP/P [Disclaimer]
Residue change:

From Glycine (G) to Arginine (R) at position 386 (G386R, p.Gly386Arg).
Physico-chemical properties:

Change from glycine (G) to large size and basic (R)
BLOSUM score:

-2
Variant description:

In ALGS1.
Other resources:

Variant rs863223650 [ dbSNP | Ensembl ]

Sequence information Variant position:

386
Protein sequence length:

1218
Location on the sequence:

WTGPTCSTNIDDCSPNNCSH G GTCQDLVNGFKCVCPPQWTG
Residue conservation:

Human                         WTGPTCSTNIDDCSPNNCSHGGTCQDLVNGFKCVCPPQWTG

Mouse                         WTGPTCSTNIDDCSPNNCSHGGTCQDLVNGFKCVCPPQWTG

Rat                           WTGPTCSTNIDDCSPNNCSHGGTCQDLVNGFKCVCPPQWTG

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	34 – 1218	Protein jagged-1
Topological domain	34 – 1067	Extracellular
Domain	374 – 410	EGF-like 5; calcium-binding
Glycosylation	382 – 382	N-linked (GlcNAc...) asparagine
Disulfide bond	378 – 389
Disulfide bond	383 – 398

Literature citations
Jagged1 (JAG1) mutation detection in an Australian Alagille syndrome population.
Heritage M.L.; MacMillan J.C.; Colliton R.P.; Genin A.; Spinner N.B.; Anderson G.J.;
Hum. Mutat. 16:408-416(2000)
Cited for: VARIANTS ALGS1 TYR-229 AND ARG-386;

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 P78504: Variant p.Gly386Arg