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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P62736: Variant p.Arg179His

Actin, aortic smooth muscle
Gene: ACTA2
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Variant information Variant position: help 179 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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 Histidine (H) at position 179 (R179H, p.Arg179His). 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 (H) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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: help In MYMY5 and SMDYS; disease phenotype include smooth muscle cells dysfunction in organs throughout the body with decreased contractile function in the iris, bladder and gastrointestinal tract. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 179 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 377 The length of the canonical sequence.
Location on the sequence: help DGVTHNVPIYEGYALPHAIM R LDLAGRDLTDYLMKILTERG 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                         DGVTHNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERG

Mouse                         DGVTHNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERG

Rat                           DGVTHNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERG

Bovine                        DGVTHNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERG

Rabbit                        DGVTHNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERG

Chicken                       DGVTHNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILSERG
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 2 – 377 Actin, aortic smooth muscle, intermediate form
Chain 3 – 377 Actin, aortic smooth muscle



Literature citations
De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction.
Milewicz D.M.; Ostergaard J.R.; Ala-Kokko L.M.; Khan N.; Grange D.K.; Mendoza-Londono R.; Bradley T.J.; Olney A.H.; Ades L.; Maher J.F.; Guo D.; Buja L.M.; Kim D.; Hyland J.C.; Regalado E.S.;
Am. J. Med. Genet. A 152:2437-2443(2010)
Cited for: VARIANT SMDYS HIS-179; Analysis of ACTA2 in European Moyamoya disease patients.
Roder C.; Peters V.; Kasuya H.; Nishizawa T.; Wakita S.; Berg D.; Schulte C.; Khan N.; Tatagiba M.; Krischek B.;
Eur. J. Paediatr. Neurol. 15:117-122(2011)
Cited for: VARIANT MYMY5 HIS-179;
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.