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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O76090: Variant p.Val275Ile

Bestrophin-1
Gene: BEST1
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Variant information Variant position: help 275
Type of variant: help LB/B
Residue change: help From Valine (V) to Isoleucine (I) at position 275 (V275I, p.Val275Ile).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help 3
Variant description: help In age-related macular degeneration.
Other resources: help


Sequence information Variant position: help 275
Protein sequence length: help 585
Location on the sequence: help RQFLNPAKAYPGHELDLVVP V FTFLQFFFYVGWLKVAEQLI
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 585 Bestrophin-1
Transmembrane 275 – 288 Helical
Binding site 293 – 293
Helix 275 – 294



Literature citations
Allelic variation in the VMD2 gene in best disease and age-related macular degeneration.
Lotery A.J.; Munier F.L.; Fishman G.A.; Weleber R.G.; Jacobson S.G.; Affatigato L.M.; Nichols B.E.; Schorderet D.F.; Sheffield V.C.; Stone E.M.;
Invest. Ophthalmol. Vis. Sci. 41:1291-1296(2000)
Cited for: VARIANTS AGE-RELATED MACULAR DEGENERATION CYS-105 AND ILE-275; VARIANTS VMD2 ARG-6; CYS-17; CYS-24; TRP-25; ARG-30; LEU-80; ILE-91; THR-101; GLN-119; LYS-133; SER-135; ARG-140; HIS-141; VAL-195; THR-201; ILE-207; CYS-218; HIS-218; VAL-222; PRO-224; ASN-227; CYS-227; THR-243; LEU-276; HIS-296; ALA-297; ASP-300; LYS-300; GLY-302; VAL-302; ASP-306; GLY-306; ALA-307 AND ILE-307;
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.