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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q04771: Variant p.Arg206His

Activin receptor type-1
Gene: ACVR1
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Variant information Variant position: help 206 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 206 (R206H, p.Arg206His). 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 FOP. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 206 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 509 The length of the canonical sequence.
Location on the sequence: help HSCTSGSGSGLPFLVQRTVA R QITLLECVGKGRYGEVWRGS 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                         HSCTSGSGSGLPFLVQRTVARQITLLECVGKGRYGEVWRGS

Mouse                         HSCTSGSGSGLPFLVQRTVARQITLLECVGKGRYGEVWRGS

Rat                           HSCTSGSGSGLPFLVQRTVARQITLLECVGKGRYGEVWRGS

Bovine                        HSCTSGSGSGLPFLVQRTVARQITLLECVGKGRYGEVWRGS

Chicken                       HSCTSGSGSGLPFLVQRTVARQITLVECVGKGRYGEVWRGQ
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 21 – 509 Activin receptor type-1
Topological domain 147 – 509 Cytoplasmic
Domain 178 – 207 GS
Mutagenesis 203 – 203 T -> V. Almost complete loss of alcaline phosphatase induction; in association with A-325.
Mutagenesis 207 – 207 Q -> D. Strong induction of SMAD1 phosphorylation.



Literature citations
A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva.
Shore E.M.; Xu M.; Feldman G.J.; Fenstermacher D.A.; Brown M.A.; Kaplan F.S.;
Nat. Genet. 38:525-527(2006)
Cited for: VARIANT FOP HIS-206; Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1.
Kaplan F.S.; Xu M.; Seemann P.; Connor J.M.; Glaser D.L.; Carroll L.; Delai P.; Fastnacht-Urban E.; Forman S.J.; Gillessen-Kaesbach G.; Hoover-Fong J.; Koester B.; Pauli R.M.; Reardon W.; Zaidi S.A.; Zasloff M.; Morhart R.; Mundlos S.; Groppe J.; Shore E.M.;
Hum. Mutat. 30:379-390(2009)
Cited for: VARIANTS FOP 197-PRO-PHE-198 DELINS LEU; HIS-206; GLU-207; ARG-328; TRP-328; GLU-328; ASP-356 AND PRO-375;
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.