present in Gene: ACVR1
present in Chromosome: 2
Position on Chromosome: 157774114
Alleles of this Variant: C/G;T
rs121912678 in
ACVR1 gene and
Fibrodysplasia Ossificans Progressiva
PMID 16642017 2006 We mapped FOP to chromosome 2q23-24 by linkage analysis and identified an identical heterozygous mutation (617G --> A; R206H) in the glycine-serine (GS) activation domain of ACVR1, a BMP type I receptor, in all affected individuals examined.
PMID 19330033 2009 FOP has been shown to result from a point mutation (c.617G>A) in the ACVR1 gene in almost all patients reported.
PMID 19085907 2009 While the recurrent c.617G>A; p.R206H mutation was found in all cases of classic FOP and most cases of FOP-plus, novel ACVR1 mutations occur in the FOP variants and two cases of FOP-plus.