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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P78504: Variant p.Gly386Arg

Protein jagged-1
Gene: JAG1
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Variant information Variant position: help 386
Type of variant: help LP/P [Disclaimer]
Residue change: help From Glycine (G) to Arginine (R) at position 386 (G386R, p.Gly386Arg).
Physico-chemical properties: help Change from glycine (G) to large size and basic (R)
BLOSUM score: help -2
Variant description: help In ALGS1.
Other resources: help


Sequence information Variant position: help 386
Protein sequence length: help 1218
Location on the sequence: help WTGPTCSTNIDDCSPNNCSH G GTCQDLVNGFKCVCPPQWTG
Residue conservation: help
Human                         WTGPTCSTNIDDCSPNNCSHGGTCQDLVNGFKCVCPPQWTG

Mouse                         WTGPTCSTNIDDCSPNNCSHGGTCQDLVNGFKCVCPPQWTG

Rat                           WTGPTCSTNIDDCSPNNCSHGGTCQDLVNGFKCVCPPQWTG

Sequence annotation in neighborhood: help
TypePositionsDescription
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.