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] |