Table 2 Sequence variants in MYH3, their frequencies in gnomAD and bioinformatic scores.
From: Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders
Family | Inheritance | Nucleotide change# | Predicted amino acid change | gnomAD* | PolyPhen-2 | SIFT | Phylo-P | Affecting splicea | CADD |
|---|---|---|---|---|---|---|---|---|---|
A | AD | c.841G>A | p.(Glu281Lys) | Not reported | 0.995 | Deleterious | 6.02 | No | 32 |
B | AD | c.1400A>C | p.(Glu467Ala) | Not reported | 1.000 | Deleterious | 4.73 | No | 28 |
C | AD | c.3661_3663delGAG | p.(Glu1221del) | Not reported | NA | NA | NA | No | NA |
D | AR | c.3249–9_3249–5delTCTTC | – | Not reported | NA | NA | NA | Yes | NA |
c.1582-6A>G | – | 0.00058 | NA | NA | −0.36 | Yes | 21 | ||
E | AR | c.3062delT | p.(Leu1021*) | Not reported | NA | NA | 5.05 | No | NA |
c.4244T>G | p.(Leu1415Arg) | Not reported | 1.000 | Deleterious | 5.05 | No | 30 | ||
F | AR | c.–9+1G>A | – | 0.01064 | NA | NA | 2.87 | Yes | 33 |
c.5658+3_5658+6del | – | Not reported | NA | NA | NA | Yes | 16 | ||
G | AR | c.–9+1G>A | – | 0.01064 | NA | NA | 2.87 | Yes | 33 |
c.1002+1G>A | – | 0.00004 | NA | NA | 6.02 | Yes | 34 | ||
H | AR | c.–9+1G>A | – | 0.01064 | NA | NA | 2.87 | Yes | 33 |
c.4000del | p.(Leu1334Cysfs*75) | Not reported | NA | NA | NA | No | 33 | ||
I | AR | c.–9+1G>A | – | 0.01064 | NA | NA | 2.87 | Yes | 33 |
c.5220_5223del | p.(Ser1740Argfs*) | Not reported | NA | NA | NA | No | NA | ||
J | AR | c.–9+1G>A | – | 0.01064 | NA | NA | 2.87 | Yes | 33 |
c.4357-10G>A | – | 0.00008 | NA | NA | −0.3 | Yes | 12 |
