Mutation type*1 |
Mutation position |
Length of affected nucleotides |
Nucleotide sequence after mutation |
Mutation name |
Case # |
Consequence |
Disease |
Symptom |
Hereditary Pattern |
Zygousity |
Position |
Onset |
Progress |
Ethnic Origin |
Reference |
M |
2884 |
1 |
T |
N962Y |
2 |
AAC-TAC at ntd 2884 -> Asn-Tyr at codon 962 |
DFNB3, Deafness, non-syndromic, autosomal recessive |
severe-to-profound sensory hearing impairment |
AR*2 |
homozygous |
exon 28. MyTH4 domain |
ND |
ND |
consanguineous Indian |
Wang, A. et al. Science 280, 1447 (1998) |
M |
2890 |
1 |
T |
I964F |
2 |
ATC-TTC at ntd 2890 -> Ile-Phe at codon 964 |
DFNB3, Deafness, non-syndromic, autosomal recessive |
bilateral, sensoeineual, congenical hearing impairment. 25dB deficit. |
AR |
homozygous |
exon 28. MyTH4 domain |
<childhood |
progressive |
Bengkala |
Wang, A. et al. Science 280, 1447 (1998) |
N |
4306 |
1 |
T |
K1436X |
2 |
AAA-TAA at ntd 4306 -> Lys-Ter at codon 1436. Result in either a truncated protein or no protein at all |
DFNB3, Deafness, non-syndromic, autosomal recessive |
severe-to-profound sensory hearing impairment |
AR |
homozygous |
exon 39. |
<childhood |
ND |
consanguineous Indian |
Wang, A. et al. Science 280, 1447 (1998) |