Sporadic Fibrodysplasia Ossificans Progressiva in an Egyptian Infant with c.617G > A Mutation in ACVR1 Gene: A Case Report and Review of Literature
Table 1
Reported ACVR1 gene mutations known to be related to FOP phenotype.
Mutation type
Accession number
Codon number
Codon change
Amino acid change
Missense/nonsense
CM091832
202
AGA-ATA
Arg-Ile
Missense/nonsense
CM061633
206
CGC-CAC
Arg-His
Missense/nonsense
CM091417
207
cCAG-GAG
Gln-Glu
Missense/nonsense
CM090905
258
AGGc-AGC
Arg-Ser
Missense/nonsense
CM091418
328
aGGG-AGG
Gly-Arg
Missense/nonsense
CM091419
328
aGGG-CGG
Gly-Arg
Missense/nonsense
CM091420
328
aGGG-TGG
Gly-Trp
Missense/nonsense
CM091421
328
GGG-GAG
Gly-Glu
Missense/nonsense
CM080031
356
GGC-GAC
Gly-Asp
Missense/nonsense
CM091422
375
CGT-CCT
Arg-Pro
Small deletions*
CD091423
TCTGGT∧196CTTCcttTTCTGGTAC
Based on HGMD (http://www.hgmd.cf.ac.uk/ac/gene.php?gene=ACVR1) (last visited at 21/12/2012).
*Microdeletions (20 bp or less) are presented in terms of the deleted bases in lower case plus, in upper case, 10 bp DNA sequence flanking both sides of the lesion. The numbered codon is preceded in the given sequence by the caret character (∧).
