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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9BYF1: Variant p.Ile468Val

Angiotensin-converting enzyme 2
Gene: ACE2
Variant information Variant position: help 468 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Isoleucine (I) to Valine (V) at position 468 (I468V, p.Ile468Val). 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 3 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

Sequence information Variant position: help 468 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 805 The length of the canonical sequence.
Location on the sequence: help GTLPFTYMLEKWRWMVFKGE I PKDQWMKKWWEMKREIVGVV 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.






Fission yeast                 APYESCIVTKKPEPCI-------------TVKEEEQLAPKI

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.
Chain 18 – 805 Angiotensin-converting enzyme 2
Chain 18 – 708 Processed angiotensin-converting enzyme 2
Topological domain 18 – 740 Extracellular
Domain 19 – 607 Peptidase M2
Binding site 477 – 477
Binding site 481 – 481
Mutagenesis 481 – 481 K -> Q. About 80% loss of angiotensin I cleavage.
Beta strand 466 – 468

Literature citations
Genetic variability of human angiotensin-converting enzyme 2 (hACE2) among various ethnic populations.
Li Q.; Cao Z.; Rahman P.;
Mol. Genet. Genomic Med. 0:0-0(2020)
Cited for: VARIANTS ARG-26; VAL-468; SER-638 AND ASP-720;
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.