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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
Type of variant: help LP/P [Disclaimer]
Residue change: help From Arginine (R) to Histidine (H) at position 206 (R206H, p.Arg206His).
Physico-chemical properties: help Change from large size and basic (R) to medium size and polar (H)
BLOSUM score: help 0
Variant description: help In FOP.
Other resources: help


Sequence information Variant position: help 206
Protein sequence length: help 509
Location on the sequence: help HSCTSGSGSGLPFLVQRTVA R QITLLECVGKGRYGEVWRGS
Residue conservation: help 
Human                         HSCTSGSGSGLPFLVQRTVARQITLLECVGKGRYGEVWRGS

Mouse                         HSCTSGSGSGLPFLVQRTVARQITLLECVGKGRYGEVWRGS

Rat                           HSCTSGSGSGLPFLVQRTVARQITLLECVGKGRYGEVWRGS

Bovine                        HSCTSGSGSGLPFLVQRTVARQITLLECVGKGRYGEVWRGS

Chicken                       HSCTSGSGSGLPFLVQRTVARQITLVECVGKGRYGEVWRGQ
Sequence annotation in neighborhood: help
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.