Disease Name |
phenotype |
Inheritance Mode |
Chr Location |
Mutation Type |
Gene Name |
mRNA Variant |
Protein Variant |
Effect |
Reference |
Hearing Impairment 3 (DFNB3, MYO15A) |
Residual hearing at low frequencies |
Autosomal Recessive |
17p11.2 |
Nonsense |
MYO15A |
3313G>T |
p.Glu1105X |
Premature Termination |
0/Nal et al., 2007
|
Hearing Impairment 3 (DFNB3, MYO15A) |
Residual hearing at low frequencies |
Autosomal Recessive |
17p11.2 |
Deletion |
MYO15A |
3334delG |
G1112fs*1124 |
Frame shift mutation & PTC |
0/Nal et al., 2007
|
Hearing Impairment 3 (DFNB3, MYO15A) |
Residual hearing at low frequencies |
Autosomal Recessive |
17p11.2 |
Duplication |
MYO15A |
1185dupC |
Glu395fs*431 |
Frame shift mutation |
0/Bashir et al., 2012
|
Hearing Impairment 3 (DFNB3, MYO15A) |
severe to profound hearing loss |
Autosomal Recessive |
17p11.2 |
Splice site |
MYO15A |
3866+1G>A |
Thr1253fs*1277 |
Frame shift mutation & PTC |
0/Nal et al., 2007
|
Hearing Impairment 3 (DFNB3, MYO15A) |
severe to profound hearing loss |
Autosomal Recessive |
17p11.2 |
Nonsense |
MYO15A |
4176C>A |
Tyr1392* |
Premature Termination |
0/Nal et al., 2007
|
Hearing Impairment 3 (DFNB3, MYO15A) |
severe to profound hearing loss |
Autosomal Recessive |
17p11.2 |
Missense |
MYO15A |
4669A>G |
Lys1557Glu |
Amino Acid Substitution |
0/Nal et al., 2007
|
Hearing Impairment 3 (DFNB3, MYO15A) |
severe to profound hearing loss |
Autosomal Recessive |
17p11.2 |
|
MYO15A |
5117_5118GC>TT |
Gly1706Val |
Amino Acid Substitution |
0/Nal et al., 2007
|
Hearing Impairment 3 (DFNB3, MYO15A) |
severe to profound hearing loss |
Autosomal Recessive |
17p11.2 |
Missense |
MYO15A |
5189T>C |
Leu1730Pro |
Amino Acid Substitution |
0/Nal et al., 2007
|
Hearing Impairment 3 (DFNB3, MYO15A) |
severe to profound hearing loss |
Autosomal Recessive |
17p11.2 |
Missense |
MYO15A |
6052G>A |
Gly2018Arg |
Amino Acid Substitution |
0/Nal et al., 2007
|
Hearing Impairment 3 (DFNB3, MYO15A) |
severe to profound hearing loss |
Autosomal Recessive |
17p11.2 |
Nonsense |
MYO15A |
6061C>T |
Gln2021* |
Amino Acid Substitution |
0/Nal et al., 2007
|
Hearing Impairment 3 (DFNB3, MYO15A) |
severe to profound hearing loss |
Autosomal Recessive |
17p11.2 |
Missense |
MYO15A |
6614C>T |
Thr2205Ile |
Amino Acid Substitution |
0/Nal et al., 2007
|
Hearing Impairment 3 (DFNB3, MYO15A) |
severe to profound hearing loss |
Autosomal Recessive |
17p11.2 |
Missense |
MYO15A |
6731G>A |
Gly2244Glu |
Amino Acid Substitution |
0/Nal et al., 2007
|
Hearing Impairment 3 (DFNB3, MYO15A) |
severe to profound hearing loss |
Autosomal Recessive |
17p11.2 |
Missense |
MYO15A |
6796G>A |
Val2266Met |
Amino Acid Substitution |
0/Nal et al., 2007
|
Hearing Impairment 3 (DFNB3, MYO15A) |
severe to profound hearing loss |
Autosomal Recessive |
17p11.2 |
Missense |
MYO15A |
8158G>C |
Asp2720His |
Amino Acid Substitution |
0/Nal et al., 2007
|
Hearing Impairment 3 (DFNB3, MYO15A) |
severe to profound hearing loss |
Autosomal Recessive |
17p11.2 |
Insertion |
MYO15A |
8821_8822insTG |
Val2940fs*3034 |
Frame shift mutation & PTC |
0/Nal et al., 2007
|
Hearing Impairment 3 (DFNB3, MYO15A) |
severe to profound hearing loss |
Autosomal Recessive |
17p11.2 |
Missense |
MYO15A |
9478C>T |
Leu3160Phe |
Amino Acid Substitution |
0/Nal et al., 2007
|
Hearing Impairment 3 (DFNB3, MYO15A) |
severe to profound hearing loss |
Autosomal Recessive |
17p11.2 |
Nonsense |
MYO15A |
10474C>T |
Gln3492* |
Premature Termination |
0/Nal et al., 2007
|