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UniProtKB/Swiss-Prot P03372: Variant p.Met264Ile

Estrogen receptor
Gene: ESR1
Variant information

Variant position:  264
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  US
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:  From Methionine (M) to Isoleucine (I) at position 264 (M264I, p.Met264Ile).
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:  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:  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:  In a breast cancer sample; somatic mutation.
Any additional useful information about the variant.

Sequence information

Variant position:  264
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  595
The length of the canonical sequence.

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:  
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.

Chain 1 – 595 Estrogen receptor
Region 185 – 310 Mediates interaction with DNTTIP2
Region 251 – 310 Hinge
Region 259 – 282 Disordered
Region 262 – 595 Interaction with AKAP13
Region 264 – 595 Self-association
Modified residue 260 – 260 Asymmetric dimethylarginine; by PRMT1
Alternative sequence 255 – 366 Missing. In isoform 2.
Mutagenesis 260 – 260 R -> AK. Loss of methylation.

Literature citations

Somatic sequence alterations in twenty-one genes selected by expression profile analysis of breast carcinomas.
Chanock S.J.; Burdett L.; Yeager M.; Llaca V.; Langeroed A.; Presswalla S.; Kaaresen R.; Strausberg R.L.; Gerhard D.S.; Kristensen V.; Perou C.M.; Boerresen-Dale A.-L.;
Breast Cancer Res. 9:R5-R5(2007)
Cited for: VARIANTS TYR-6 AND ILE-264;

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.