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UniProtKB/Swiss-Prot P50052: Variant p.Gly21Val

Type-2 angiotensin II receptor
Gene: AGTR2
Variant information

Variant position:  21
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 Glycine (G) to Valine (V) at position 21 (G21V, p.Gly21Val).
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 glycine (G) to medium size and hydrophobic (V)
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

Variant description:  Rare variant found in patients with X-linked mental retardation; unknown pathological significance.
Any additional useful information about the variant.

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



Sequence information

Variant position:  21
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  363
The length of the canonical sequence.

Location on the sequence:   MKGNSTLATTSKNITSGLHF  G LVNISGNNESTLNCSQKPSD
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                         MKGNSTLATTSKNITSGLHFGLVNISGNNESTLNCSQKPSD

Mouse                         MKDNFSFAATSRNITSSRPFDNLNATGTNESAFNCSHKPSD

Rat                           MKDNFSFAATSRNITSSLPFDNLNATGTNESAFNCSHKPAD

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 1 – 363 Type-2 angiotensin II receptor
Topological domain 1 – 45 Extracellular
Glycosylation 4 – 4 N-linked (GlcNAc...) asparagine
Glycosylation 13 – 13 N-linked (GlcNAc...) asparagine
Glycosylation 24 – 24 N-linked (GlcNAc...) asparagine
Glycosylation 29 – 29 N-linked (GlcNAc...) asparagine
Glycosylation 34 – 34 N-linked (GlcNAc...) asparagine


Literature citations

AGTR2 mutations in X-linked mental retardation.
Vervoort V.S.; Beachem M.A.; Edwards P.S.; Ladd S.; Miller K.E.; de Mollerat X.; Clarkson K.; DuPont B.; Schwartz C.E.; Stevenson R.E.; Boyd E.; Srivastava A.K.;
Science 296:2401-2403(2002)
Cited for: TISSUE SPECIFICITY; VARIANTS VAL-21; LYS-248; GLN-324 AND VAL-337; POSSIBLE ASSOCIATION OF VARIANTS VAL-21; GLN-324 AND VAL-337 WITH X-LINKED MENTAL RETARDATION;

XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing.
Piton A.; Redin C.; Mandel J.L.;
Am. J. Hum. Genet. 93:368-383(2013)
Cited for: LACK OF ASSOCIATION VARIANTS VAL-21; GLN-324 AND VAL-337 WITH X-LINKED MENTAL RETARDATION;

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.