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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P12821: Variant p.Arg1279Gln

Angiotensin-converting enzyme
Gene: ACE
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Variant information Variant position: help 1279 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 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: help 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: help 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: help Links to websites of interest for the variant.


Sequence information Variant position: help 1279 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1306 The length of the canonical sequence.
Location on the sequence: help 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         QWLLLFLGIALLVATLGLSQRLFSIR-HRSLHRHSHGPQFGS

Chimpanzee                    QWLLLFLGIALLVATLGLSQRLFSIR-HRSLHRHSHGPQFD

Mouse                         QWVLLFLGVALLVATVGLAHRLYNIRNHHSLRRPHRGPQFG

Rat                           QWVLLFLGVALLVATVGLAHRLYNIHNHHSLRRPHRGPQFG

Pig                           QWVLLFLGVTLLVATMGLTQRLFSIR-HQILRRTHRGPQFG

Bovine                        QWVLLFLGVALLVATLGLTQRLFSIR-HHSLRRPHRGPQFG

Rabbit                        QWVLLFLGVALLLASLGLTQRLFSIR-YQSLRQPHHGPQFG

Chicken                       AWVLLALALVFLITSIFLGVKLFSSR-RKAFKSS-------

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

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.
TypePositionsDescription
Chain 30 – 1306 Angiotensin-converting enzyme
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.