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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O76090: Variant p.Leu140Val

Bestrophin-1
Gene: BEST1
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Variant information Variant position: help 140 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 Leucine (L) to Valine (V) at position 140 (L140V, p.Leu140Val). 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 hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 1 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 RP50 and ARB; possible decrease in protein stability; causes protein mislocalization to the cytoplasm and reduction of channel activity. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 140 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 QGRLLRRTLIRYANLGNVLI L RSVSTAVYKRFPSAQHLVQA 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 83 – 237 Cytoplasmic
Helix 119 – 143



Literature citations
Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa.
Davidson A.E.; Millar I.D.; Urquhart J.E.; Burgess-Mullan R.; Shweikh Y.; Parry N.; O'Sullivan J.; Maher G.J.; McKibbin M.; Downes S.M.; Lotery A.J.; Jacobson S.G.; Brown P.D.; Black G.C.; Manson F.D.;
Am. J. Hum. Genet. 85:581-592(2009)
Cited for: FUNCTION; TRANSPORTER ACTIVITY; SUBCELLULAR LOCATION; VARIANTS RP50 VAL-140; THR-205; CYS-227 AND ASN-228; CHARACTERIZATION OF VARIANTS RP50 VAL-140; THR-205 AND ASN-228; CHARACTERIZATION OF VARIANT ARB ASN-312; Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy.
Davidson A.E.; Millar I.D.; Burgess-Mullan R.; Maher G.J.; Urquhart J.E.; Brown P.D.; Black G.C.; Manson F.D.;
Invest. Ophthalmol. Vis. Sci. 52:3730-3736(2011)
Cited for: FUNCTION; TRANSPORTER ACTIVITY; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANTS ARB PRO-41; VAL-140; HIS-141; ALA-152; VAL-195; TRP-202; ASN-312; MET-317 AND THR-325; CHARACTERIZATION OF VARIANTS VMD2 HIS-85 AND ARG-237;
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.