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UniProtKB/Swiss-Prot Q9BYF1: Variant p.Ile468Val

Angiotensin-converting enzyme 2
Gene: ACE2
Variant information

Variant position:  468
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 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:  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:  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:  468
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  805
The length of the canonical sequence.

Location on the sequence:   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: 
The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         GTLPFT--YMLEKWRWMVFKGEIPKDQWMKKWWEMKREIVGVV

Mouse                         GTLPFT--YMLEKWRWMVFRGEIPKEQWMKKWWEMKREIVG

Rat                           GTLPFT--YMLEKWRWMVFQDKIPREQWTKKWWEMKREIVG

Bovine                        GTLPFT--YMLEKWRWMVFKGEIPKQQWMEKWWEMKREIVG

Cat                           GTLPFT--YMLEKWRWMVFKGEIPKEQWMQKWWEMKREIVG

Baker's yeast                 TDKSRDDRYAAGTFT--------PRTQLSPI-HKKRESVVS

Fission yeast                 -SAPYE--SCIVTKK--------PEPCIT---VKEEEQLAP

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 18 – 805 Angiotensin-converting enzyme 2
Chain 18 – 708 Processed angiotensin-converting enzyme 2
Topological domain 18 – 740 Extracellular
Binding site 477 – 477 Chloride
Binding site 481 – 481 Chloride
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.