Table 2.
MYH9 variants: nucleotide cDNA changes and corresponding protein alterations
| Exon | Nucleotide change | Protein alteration | P/FM/F |
|---|---|---|---|
| 2 | c.97T>C | p.W33R | 1/1/1 |
| c.99G>C | p.W33C | 1/0/0 | |
| c.99G>T | p.W33C | 1/1/1 | |
| c.101T>A | p.V34E | 1/0/0 | |
| c.130G>C | p.A44P | 1/0/0 | |
| c.136C>T | p.L46F1 | 3/0/0 | |
| c.277A>G | p.N93D | 1/0/0 | |
| c.279C>G | p.N93K | 1/1/1 | |
| c.283G>A | p.A95T | 2/0/0 | |
| c.284C>T | p.A95V | 1/0/0 | |
| c.287C>T | p.S96L | 6/1/1 | |
| 11 | c.1115A>G | p.Q372R | 1/0/0 |
| 17 | c.2104C>T | p.R702C | 6/2/1 |
| c.2105G>A | p.R702H | 4/1/1 | |
| c.2114G>A | p.R705H | 2/0/0 | |
| c.2152C>T | p.R718W | 1/1/1 | |
| 21 | c.2548A>G | p.K850E | 1/2/1 |
| 22 | c.2680G>A | p.E894K | 2/0/0 |
| 25 | c.3202_3222del | p.Q1068_L1074del | 1/0/0 |
| 26 | c.3340T>C | p.S1114P2 | 1/3/1 |
| 27 | c.3493C>T | p.R1165C | 2/7/2 |
| 28 | c.3751G>A | p.E1251K | 1/1/1 |
| 31 | c.4272C>G | p.D1424E | 1/2/1 |
| c.4272C>A | p.D1424E | 1/0/0 | |
| c.4271A>G | p.D1424G | 2/1/1 | |
| c.4270G>A | p.D1424N | 7/6/4 | |
| c.4306G>A | p.A1436T | 1/0/0 | |
| c.4336T>C | p.F1446L | 1/0/0 | |
| c.4340A>G | p.D1447G | 1/0/0 | |
| c.4340A>T | p.D1447V | 2/2/1 | |
| 32 | c.4423G>A | p.E1475K | 2/0/0 |
| 33 | c.4679T>G | p.V1560G | 2/0/0 |
| c.4687C>A | p.Q1563K | 1/0/0 | |
| 39 | c.5521G>A | p.E1841K | 5/2/2 |
| 40 | c.5630G>A | p.R1877Q | 1/0/0 |
| Intron 40 | c.5765+2T>A | p.R1922Rfs*43 | 1/0/0 |
| Intron 40 | c.5766-3del | ||
| 41 | c.5794del | p.R1932Afs*16 | 1/0/0 |
| c.5797C>T | p.R1933X | 4/2/1 | |
| c.5800del | p.M1934Wfs*14 | 1/0/0 | |
| c.5809A>T | p.K1937X | 1/0/0 | |
| c.5820_5821dup | p.D1941Gfs*8 | 1/0/0 | |
| c.5821del | p.D1941Mfs*7 | 1/0/0 |
GenBank Accession Number of the relevant wild-type MYH9 gene sequence: NM_002473.4. In bold: variants only found in our patients (n = 21); In italics: SNP (n = 3). Motor Domain, exons 2 to 17: 16 variants; Tail Domain, exons 21 to 41: 27 variants. P, propositi; FM, number of affected family members; F, number of families with a propositus, and affected family members.
1
p.L46F alone: 1 proposita, sporadic case; p.L46F+p.S96L: 1 proposita, sporadic case; p.L46F+p.E1841K: 1 proposita with one daughter with p.E1841K alone.
2
p.S1114P associated with p.D1424N in the propositus and his three sons.