Table 1. Results of mutational screening in 255 MYH9-RD patients (121 families).
| N. of patients (n. of families) |
|||||||
|---|---|---|---|---|---|---|---|
| Exon | Nucleotide change | NMMHC-IIA domain | NMMHC-IIA region | Amino acid change | Total enrolled | Previously reported | Ref. |
| 2 | c.99G>T | HD | SH3/MD i | p.W33C | 1 (1) | 1 (1) | A |
| 2 | c.101T>G | HD | SH3/MD i | p.V34G | 3 (1) | 3 (1) | D |
| 2 | c.279C>G | HD | SH3/MD i | p.N93K | 1 (1) | 1 (1) | B |
| 2 | c.284C>A | HD | SH3/MD i | p.A95D | 3 (1) | 1 (1) | G |
| 2 | c.287C>T | HD | SH3/MD i | p.S96L | 6 (5) | 3 (3) | B,G |
| 17 | c.2104C>T | HD | SH1 helix | p.R702C | 19 (17) | 15 (14) | B,G |
| 17 | c.2104C>A | HD | SH1 helix | p.R702S | 1 (1) | 1(1) | D |
| 17 | c.2105G>A | HD | SH1 helix | p.R702H | 11 (6) | 7(4) | B,G |
| 17 | c.2152C>T | HD | Converter | p.R718W | 1 (1) | 1 (1) | B |
| 21 | c.2539 _2559dup |
TD | Coiled-coil | p.M847_ E853dup |
2 (1) | 2 (1) | D |
| 25 | c.3142 _3162del |
TD | Coiled-coil | p.K1048_ E1054del |
2 (1) | 2 (1) | D |
| 25 | c.3195 _3215del |
TD | Coiled-coil | p.E1066_ A1072del |
3 (2) | 1 (1) | B |
| 25 | c.3195 _3215dup |
TD | Coiled-coil | p.E1066_ A1072dup |
3 (1) | 3 (1) | G |
| 26 | c.3463A>G | TD | Coiled-coil | p.T1155A | 1 (1) | 1 (1) | G |
| 26 | c.3464C>T | TD | Coiled-coil | p.T1155I | 4 (1) | 2 (1) | B |
| 26 | c.3485G>C | TD | Coiled-coil | p.R1162T | 3 (2) | 3 (2) | C |
| 27 | c.3493C>T | TD | Coiled-coil | p.R1165C | 18 (8) | 8 (3) | B |
| 27 | c.3494G>T | TD | Coiled-coil | p.R1165L | 5 (2) | 1 (1) | G |
| 31 | c.4270G>C | TD | Coiled-coil | p.D1424H | 33 (9) | 20 (5) | B,G |
| 31 | c.4270G>A | TD | Coiled-coil | p.D1424N | 13 (8) | 7 (6) | B,G |
| 31 | c.4270G>T | TD | Coiled-coil | p.D1424Y | 7 (3) | 2 (2) | B,G |
| 31 | c.4339G>T | TD | Coiled-coil | p.D1447Y | 1 (1) | 1 (1) | D |
| 31 | c.4340A>T | TD | Coiled-coil | p.D1447V | 5 (2) | 4 (1) | B |
| 32 | c.4546G>A | TD | Coiled-coil | p.V1516M | 3 (1) | 2 (1) | E |
| 33 | c.4670G>T | TD | Coiled-coil | p.R1557L | 2 (1) | 2 (1) | E |
| 39 | c.5521G>A | TD | Coiled-coil | p.E1841K | 34 (15) | 24 (11) | B,G |
| 41 | c.5770 _5779del |
TD | NHT | p.G1924Rfs*21 | 3 (1) | 3 (1) | E |
| 41 | c.5773delG | TD | NHT | p.D1925Tfs*23 | 5 (1) | 4 (1) | B |
| 41 | c.5788delG | TD | NHT | p.V1930Cfs*18 | 4 (1) | 1 (1) | E |
| 41 | c.5797C>T | TD | NHT | p.R1933* | 44 (20) | 20 (13) | B,G |
| 41 | c.5797delC | TD | NHT | p.R1933Efs*15 | 2 (1) | 2 (1) | B |
| 41 | c.5800delA | TD | NHT | p.M1934Wfs*14 | 2 (1) | 2 (1) | F |
| 41 | c.5821delG | TD | NHT | p.D1941Mfs*7 | 5 (2) | 5 (2) | B |
| 41 | c.5833G>T | TD | NHT | p.E1945* | 5 (1) | 3 (1) | B |
Notes: the five residues most frequently affected by mutations (see text) are evidenced in bold.
Nucleotide numbering reflects the MYH9 cDNA with +1 corresponding to the A of the ATG translation initiation codon in the reference sequence (RefSeq NM_002473.4). The initiation codon is codon 1. All the mutations are enlisted in a locus specific mutation database (http://www.LOVD.nl/MYH9) at the Leiden Open Variation Database.
Abbreviations: HD = Head Domain; TD = Tail Domain; SH3/MD i = SH3-like motif/motor domain interface; NHT = Non-Helical Tailpiece. Ref.= reference.
References: A = Kahr et al., 2009 (reference listed in the text). B = Pecci et al., 2008a (reference listed in the text). C = Vettore S et al., Eur J Med Genet 2010; 53: 256-60. D = De Rocco D et al., 2013 (reference listed in the text). E = Pecci A et al., 2010 (reference listed in the text). F = Savoia A et al., Ann Hematol 2010; 89:1057-9. G = Savoia A et al., 2010 (reference listed in the text).