Mutation | Protein change | Exon | Origin | Age of onset | Sub-domain | Reference |
---|---|---|---|---|---|---|
c.211delC | p.Q71fs | 1 | Japan | 8–50 | N-term cyto | |
c.211del13 | p.Q71fs | 1 | Belgian | <10 | N-term cyto | [15] |
c.229_230insGC | p.H77fs | 1 | Japan | 27 | N-term cyto | [18] |
c.546C > G | p.F182L | 4 | Japan | -- | S3 trans | |
c.664_681del18 | p.G215_220del6 | 4 | Korea | earliest 4 | S4–S5 linker | [14] |
c.689 T > A | p.V230E | 4 | Japan | 3–40 | S4–S5 linker | [18] |
c.725G > A | p.W241X | 5 | America | -- | S5 trans | [16] |
c.778G > A | p.E260K | 5 | America | -- | S5 trans | [16] |
c.785A > T | p.D262V | 5 | America | -- | S5 trans | [16] |
c.806_808delCCT | p.S269del | 5 | Canada | <10 | S5–S6 linker | [11] |
c.821 T > A | p.L274H | 5 | Neth | -- | PR(P) | [23] |
c.823 T > C | p.W275R | 5 | China | 2–30 | PR(P) | [24] |
c.827G > C | p.W276S | 5 | Japan,Dutch | <10 | PR(P) | |
c.842 T > C | p.L281S | 6 | America | -- | PR(P) | [20] |
c.853G > T | p.G285C | 6 | America | <10 | PR(P) | [15] |
c.853G > A | p.G285S | 6 | French,China | 6–30 | PR(P) | |
c.859G > C | p.G287R | 6 | America | 1–21 | PR(P) | [13] |
c.871C > T | p.P291S | 6 | Japan | 20 | PR(P) | [18] |
c.872C > T | p.P291L | 6 | Japan | 17 | PR(P) | [18] |
c.886G > A | p.296S | 6 | Spanish | 9–50 | PR | [7] |
c.887G > A | p.G296D | 6 | China | 15–25 | PR | This study |
c.891G > T | p.R297S | 6 | Japan | 5,39 | S6 trans | [18] |
c.961G > A | p.G321S | 7 | Dutch | <10 | S6 trans | [15] |
c.1044_1051del8 | p.A349Pfs | 8 | Japan | <10 | S6-B segment linker | [25] |