Table 2.
Characteristics of the MYH14 variant, analysis of predicted protein structure and disease-causing effects
| Variation | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Gene | Exon | Nucleotidea | Amino acida | Type | Status | SIFT | PolyPhen 2 | Mutation Taster | 1000G | DVD | Clinvar | LOVD3 |
| MYH14 | 39 | c.5417C > A | p.A1806D | missense | Heter | Damaging | Damaging | Disease causing | – | – | – | – |
c variation at cDNA level, Clinvar Clinvar Database, DVD Deafness Variation Database, 1000G 1000 Genomes, Heter heterozygote, LOVD3 Leiden Open Variation Database, p variation at protein level, MYH14 myosin heavy chain 14 (NM_001077186), PolyPhen 2 Polymorphism Phenotyping v2, SIFT sorts intolerant from tolerant
aAll nucleotide and amino acid are abbreviated according to the International Union of Pure and Applied Chemistry