| |
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