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UniProtKB/Swiss-Prot P56817: Variant p.Val265Ala

Beta-secretase 1
Gene: BACE1
Variant information

Variant position:  265
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LB/B
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 Valine (V) to Alanine (A) at position 265 (V265A, p.Val265Ala).
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:  Change from medium size and hydrophobic (V) to small size and hydrophobic (A)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
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

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  265
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  501
The length of the canonical sequence.

Location on the sequence:   YTGSLWYTPIRREWYYEVII  V RVEINGQDLKMDCKEYNYDK
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.

Residue conservation: 
The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         YTGSLWYTPIRREWYYEVIIVRVEINGQDLKMDCKEYNYDK

Mouse                         YTGSLWYTPIRREWYYEVIIVRVEINGQDLKMDCKEYNYDK

Rat                           YTGSLWYTPIRREWYYEVIIVRVEINGQDLKMDCKEYNYDK

Bovine                        YMGSLWYTPIRREWYYEVIIVRVEINGQDLKMDCKEYNYDK

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.

TypePositionsDescription
Chain 46 – 501 Beta-secretase 1
Topological domain 22 – 457 Extracellular
Domain 75 – 416 Peptidase A1
Modified residue 275 – 275 N6-acetyllysine
Modified residue 279 – 279 N6-acetyllysine
Modified residue 285 – 285 N6-acetyllysine
Disulfide bond 216 – 420
Mutagenesis 284 – 284 D -> N. Almost abolishes beta-cleaved soluble APP production.
Beta strand 264 – 269


Literature citations

Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT ALA-265;

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.