UniProtKB/Swiss-Prot P12821: Variant p.Arg1279Gln

Angiotensin-converting enzyme
Gene: ACE
Chromosomal location: 17q23
Variant information

Variant position:  1279
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants have been found in patients and disease-association is reported in literature. However, this classification is not a definitive assessment of variant pathogenicity.
  • Polymorphism: No disease-association has been reported.
  • Unclassified: Variants have been found in patients but disease-association remains unclear.

Residue change:  From Arginine (R) to Glutamine (Q) at position 1279 (R1279Q, p.Arg1279Gln).
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 large size and basic (R) to medium size and polar (Q)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  1
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:  1279
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1306
The length of the canonical sequence.

Location on the sequence:   QWLLLFLGIALLVATLGLSQ  R LFSIRHRSLHRHSHGPQFGS
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                         QWLLLFLGIALLVATLGLSQRLFSIR-HRSLHRHSHGPQFGS

Chimpanzee                    QWLLLFLGIALLVATLGLSQRLFSIR-HRSLHRHSHGPQFD

Mouse                         QWVLLFLGVALLVATVGLAHRLYNIRNHHSLRRPHRGPQFG

Rat                           QWVLLFLGVALLVATVGLAHRLYNIHNHHSLRRPHRGPQFG

Rabbit                        QWVLLFLGVALLLASLGLTQRLFSIR-YQSLRQPHHGPQFG

Drosophila                    -----------------------------------------

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 30 – 1306 Angiotensin-converting enzyme
Propeptide 1233 – 1306 Removed in soluble form
Topological domain 1278 – 1306 Cytoplasmic
Modified residue 1299 – 1299 Phosphoserine
Alternative sequence 1146 – 1306 Missing. In isoform Somatic-2.
Mutagenesis 1299 – 1299 S -> A. Abolishes phosphorylation and decreases membrane retention.


Literature citations

Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis.
Halushka M.K.; Fan J.-B.; Bentley K.; Hsie L.; Shen N.; Weder A.; Cooper R.; Lipshutz R.; Chakravarti A.;
Nat. Genet. 22:239-247(1999)
Cited for: VARIANTS THR-1018; VAL-1051; GLN-1279; SER-1286 AND PRO-1296;

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.