Variant position: 375 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 509 The length of the canonical sequence.
Location on the sequence:
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: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human LGLAVMHSQSTNQLDVGNNP RVGTKRYMAPEVLDETIQVDC
Mouse LGLAVMHSQSTNQLDVGNNP RVGTKRYMAPEVLDETIQVDC
Rat LGLAVMHSQSTNQLDVGNNP RVGTKRYMAPEVLDETIQVDC
Bovine LGLAVMHSQSTNQLDVGNNP RVGTKRYMAPEVLDETIQVDC
Chicken LGLAVMHSQSTNQLDVGNNP RVGTKRYMAPEVLDETIQADC
Sequence annotation in neighborhood: 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.
Type Positions Description
21 – 509 Activin receptor type-1
147 – 509 Cytoplasmic
208 – 502 Protein kinase
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;
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.