A novel MYH14 mutation in a Chinese family with autosomal dominant nonsyndromic hearing loss

BMC Medical Genetics

Table 2 Characteristics of the MYH14 variant, analysis of predicted protein structure and disease-causing effects

		Variation
Gene	Exon	Nucleotide^a	Amino acid^a	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

ISSN: 1471-2350