Table 10.

Notable ACVR1 Pathogenic Variants

Reference SequencesDNA Nucleotide
Change		Predicted
Protein Change		Comment [Reference]
NM_001105​.4
NP_001096​.1 		c.617G>Ap.Arg206HisThe most common pathogenic variant identified 1
c.982G>Ap.Gly328ArgSpecific gain-of-function variants at p.Gly328 are assoc w/characteristic phenotype (see Genotype-Phenotype Correlations) [Kaplan et al 2009].
c.982G>C
c.982G>Tp.Gly328Trp
c.983G>Ap.Gly328Glu

Variants listed in the table have been provided by the authors. GeneReviews staff have not independently verified the classification of variants.

GeneReviews follows the standard naming conventions of the Human Genome Variation Society (varnomen​.hgvs.org). See Quick Reference for an explanation of nomenclature.

1.

From: Fibrodysplasia Ossificans Progressiva

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