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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O76090: Variant p.Glu300Asp

Bestrophin-1
Gene: BEST1
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Variant information Variant position: help 300 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change: help From Glutamate (E) to Aspartate (D) at position 300 (E300D, p.Glu300Asp). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and acidic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 2 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description: help In VMD2. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 300 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 585 The length of the canonical sequence.
Location on the sequence: help QFFFYVGWLKVAEQLINPFG E DDDDFETNWIVDRNLQVSLL The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Sequence annotation in neighborhood: help The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
  • Type: the type of sequence feature.
  • Positions: endpoints of the sequence feature.
  • Description: contains additional information about the feature.
TypePositionsDescription
Chain 1 – 585 Bestrophin-1
Topological domain 292 – 585 Cytoplasmic
Alternative sequence 290 – 316 Missing. In isoform 4.
Beta strand 299 – 301



Literature citations
Bestrophin gene mutations in patients with Best vitelliform macular dystrophy.
Caldwell G.M.; Kakuk L.E.; Griesinger I.B.; Simpson S.A.; Nowak N.J.; Small K.W.; Maumenee I.H.; Rosenfeld P.J.; Sieving P.A.; Shows T.B.; Ayyagari R.;
Genomics 58:98-101(1999)
Cited for: VARIANTS VMD2 HIS-13; CYS-93; CYS-218; ASP-300; GLU-301 AND ILE-307; Evaluation of the Best disease gene in patients with age-related macular degeneration and other maculopathies.
Allikmets R.; Seddon J.M.; Bernstein P.S.; Hutchinson A.; Atkinson A.; Sharma S.; Gerrard B.; Li W.; Metzker M.L.; Wadelius C.; Caskey C.T.; Dean M.; Petrukhin K.;
Hum. Genet. 104:449-453(1999)
Cited for: VARIANTS VMD2 LYS-146; SER-297 AND ASP-300; VARIANTS GLN-119; ILE-216; ALA-525; LYS-557; ALA-561 AND PHE-567; 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; Phenotype and genotype correlations in two best families.
Seddon J.M.; Sharma S.; Chong S.; Hutchinson A.; Allikmets R.; Adelman R.A.;
Ophthalmology 110:1724-1731(2003)
Cited for: VARIANTS VMD2 SER-297 AND ASP-300;
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.