Skip to main content

Table 4 Overview of ACTG1 mutations described in DFNA20/26

From: Phenotypic Heterogeneity in a DFNA20/26 family segregating a novel ACTG1 mutation

No. Mutation Protein change Exon Sub-domain Origin Age of onset Reference
1 c.151G > A p.D51N 3 2 Dutch 1st decade [15]
2 c.266C > T p.T89I 3 1 American 3rd decade [13]
3 c.353A > T p.K118M 3 1 American 1st or 2nd decade [13]
4 c.354G > C p.K118N 3 1 Spanish 1st or 2nd decade [16]
5 c.364A > G p.I122V 4 1 Chinese 1st decade [3]
6 c.559G > C p.D187H 4 4 Korean 1st decade [17]
7 c.638A > G p.K213R 4 4 Chinese 2nd decade Present study
8 c.721G > A p.E241K 4 4 Spanish 1st decade [16]
9 c.791C > T p.P264L 4 4 American 1st or 2nd decade [13]
10 c.833C > T p.T278I 5 3 Dutch 1st or 2nd decade [14]
11 c.914 T > C p.M305T 5 3 Korean 3rd decade [11]
12 c.994C > G p.P332A 6 3 American 2nd decade [13]
13 c.1109 T > C p.V370A 6 C-terminal Norwegian 1st or 2nd decade [10]
\