UniProtKB/Swiss-Prot Q9BYF1: Variant p.Lys26Arg

Angiotensin-converting enzyme 2
Gene: ACE2
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Variant information Variant position:

26 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 Lysine (K) to Arginine (R) at position 26 (K26R, p.Lys26Arg). 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 large size and basic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

2 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.

Variant rs4646116 [ dbSNP | Ensembl ]

Sequence information Variant position:

26 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:

WLLLSLVAVTAAQSTIEEQA K TFLDKFNHEAEDLFYQSSLA 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                         WLLLSLVAVTAAQSTIEEQAKTFLDKFNHEAEDLFYQSSLA

Mouse                         WLLLSLVAVTTAQSLTEENAKTFLNNFNQEAEDLSYQSSLA

Rat                           WLLLSLVAVATAQSLIEEKAESFLNKFNQEAEDLSYQSSLA

Bovine                        WLLLSLVAVTAAQSTTEEQAKTFLEKFNHEAEDLSYQSSLA

Cat                           WLLLSFAALTAAQSTTEELAKTFLEKFNHEAEELSYQSSLA

Baker's yeast                 WYINPSGFAKDTQDEE-------YVQHHDNVNPTIPPP---

Fission yeast                 ---LSYLSSSSQKS---------FESFRQEESPACNHS---

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.

Type	Positions	Description
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
Alternative sequence	1 – 356	MSSSSWLLLSLVAVTAAQSTIEEQAKTFLDKFNHEAEDLFYQSSLASWNYNTNITEENVQNMNNAGDKWSAFLKEQSTLAQMYPLQEIQNLTVKLQLQALQQNGSSVLSEDKSKRLNTILNTMSTIYSTGKVCNPDNPQECLLLEPGLNEIMANSLDYNERLWAWESWRSEVGKQLRPLYEEYVVLKNEMARANHYEDYGDYWRGDYEVNGVDGYDYSRGQLIEDVEHTFEEIKPLYEHLHAYVRAKLMNAYPSYISPIGCLPAHLLGDMWGRFWTNLYSLTVPFGQKPNIDVTDAMVDQAWDAQRIFKEAEKFFVSVGLPNMTQGFWENSMLTDPGNVQKAVCHPTAWDLGKGDF -> MREAGWDKGG. In isoform 2.
Mutagenesis	19 – 19	S -> P. Increases slightly the interaction with RBD domain of SARS-CoV-2 spike protein.
Mutagenesis	24 – 26	QAK -> KAE. Slightly inhibits interaction with SARS-CoV spike glycoprotein.
Mutagenesis	24 – 24	Q -> T. Increases slightly the interaction with RBD domain of SARS-CoV-2 spike protein.
Mutagenesis	25 – 25	A -> V. Increases slightly the interaction with RBD domain of SARS-CoV-2 spike protein.
Mutagenesis	27 – 27	T -> Y. Increases slightly the interaction with RBD domain of SARS-CoV-2 spike protein. In sACE2.v2.2; increases interaction with RBD domain of SARS-CoV-2 spike protein; when associated with Y-330 and L-386.
Mutagenesis	29 – 29	L -> F. Increases slightly the interaction with RBD domain of SARS-CoV-2 spike protein.
Mutagenesis	31 – 31	K -> D. Abolishes interaction with SARS-CoV spike glycoprotein.
Mutagenesis	31 – 31	K -> Y. Increases slightly the interaction with RBD domain of SARS-CoV-2 spike protein.
Mutagenesis	33 – 33	N -> D. Increases slightly the interaction with RBD domain of SARS-CoV-2 spike protein.
Mutagenesis	34 – 34	H -> A. Increases slightly the interaction with RBD domain of SARS-CoV-2 spike protein.
Mutagenesis	37 – 37	E -> A. No effect on interaction with SARS-CoV spike glycoprotein.
Mutagenesis	38 – 38	D -> A. No effect on interaction with SARS-CoV spike glycoprotein.
Mutagenesis	39 – 39	L -> R. Increases slightly the interaction with RBD domain of SARS-CoV-2 spike protein.
Mutagenesis	40 – 40	F -> D. Increases slightly the interaction with RBD domain of SARS-CoV-2 spike protein.
Mutagenesis	41 – 41	Y -> A. Strongly inhibits interaction with SARS-CoV spike glycoprotein.
Mutagenesis	41 – 41	Y -> R. Increases slightly the interaction with RBD domain of SARS-CoV-2 spike protein.
Mutagenesis	42 – 42	Q -> L. Increases slightly the interaction with RBD domain of SARS-CoV-2 spike protein.
Helix	23 – 52

Literature citations
Submission
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT ARG-26; 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.