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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q04771: Variant p.Arg375Pro

Activin receptor type-1
Gene: ACVR1
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Variant information Variant position: help 375
Type of variant: help LP/P [Disclaimer]
Residue change: help From Arginine (R) to Proline (P) at position 375 (R375P, p.Arg375Pro).
Physico-chemical properties: help Change from large size and basic (R) to medium size and hydrophobic (P)
BLOSUM score: help -2
Variant description: help In FOP; variant phenotype.
Other resources: help


Sequence information Variant position: help 375
Protein sequence length: help 509
Location on the sequence: help LGLAVMHSQSTNQLDVGNNP R VGTKRYMAPEVLDETIQVDC
Residue conservation: help 
Human                         LGLAVMHSQSTNQLDVGNNPRVGTKRYMAPEVLDETIQVDC

Mouse                         LGLAVMHSQSTNQLDVGNNPRVGTKRYMAPEVLDETIQVDC

Rat                           LGLAVMHSQSTNQLDVGNNPRVGTKRYMAPEVLDETIQVDC

Bovine                        LGLAVMHSQSTNQLDVGNNPRVGTKRYMAPEVLDETIQVDC

Chicken                       LGLAVMHSQSTNQLDVGNNPRVGTKRYMAPEVLDETIQADC
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 21 – 509 Activin receptor type-1
Topological domain 147 – 509 Cytoplasmic
Domain 208 – 502 Protein kinase



Literature citations
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.