Mutation type*1 |
Mutation position |
Length of affected nucleotides |
Nucleotide sequence after mutation |
Mutation name |
Case # |
Consequence |
Disease |
Symptom |
Hereditary Pattern |
Zygosity |
Mutation Position |
Onset |
Progress |
Ethnic Origin |
Reference |
Memo |
M |
853 |
1 |
A |
G285S |
1 |
GGC-AGC at ntd 853 -> Gly-Ser at codon 285 |
DFNA2, Deafness, autosomal dominant 2 |
more severe, high frequencies, (50-90dB) at 500Hz, (90-120dB) at 4kHz |
AD*2 |
heterozygous |
exon 6. First glycine in the GYG sequence of K+ channel pores |
early chldhood or around puberty |
progressive |
French |
Kubisch, C. et al. Cell 96, 437 (1999) |
strong dominant-negative effect |
M |
853 |
1 |
T |
G285C |
1 |
GGC-TGC at ntd 853 -> Gly-Cys at codon 285 |
DFNA2, Deafness, autosomal dominant 2 |
start with high frequencies. Average progression is ~1 dB/year but onset is earlier for high frequencies than low frequencies. |
AD |
heterozygous |
exon6. Pore region |
<10Y |
progressive |
American |
Coucke, P. J. et al. Hum Mol Genet 8, 1321 (1999) |
|
FD |
211 |
13 |
|
211del13 |
1 |
13-bp del CAGCGCTCCTCGG at ntd 211 -> frameshift at codon 71, followed by a premature stop codon at amino acid position 134 |
DFNA2, Deafness, autosomal dominant 2 |
start with high frequencies. Average progression for high frequencies is about 5 times faster than low frequencies. |
AD |
heterozygous |
exon 1. N-termonal cytoplasmatic |
<10Y |
progressive |
Belgian |
Coucke, P. J. et al. Hum Mol Genet 8, 1321 (1999) |
|
M |
827 |
1 |
C |
W276S |
1 |
GTG-GTC at ntd 827 -> Trp-Ser at codon 276 |
DFNA2, Deafness, autosomal dominant 2 |
start with high frequencies. Average progression is ~1 dB/year but onset is earlier for high frequencies than low frequencies. |
AD |
heterozygous |
exon 5. Pore region |
<10Y |
progressive |
Dutch |
Coucke, P. J. et al. Hum Mol Genet 8, 1321 (1999) |
|
M |
961 |
1 |
A |
G321S |
1 |
GGC-AGC at ntd 961 -> Gly-Ser at codon 321 |
DFNA2, Deafness, autosomal dominant 2 |
start with high frequencies. Average progression is ~1 dB/year but onset is earlier for high frequencies than low frequencies. |
AD |
heterozygous |
exon 7. S6 transmembrane domain |
<10Y |
progressive |
Dutch |
Coucke, P. J. et al. Hum Mol Genet 8, 1321 (1999) |
|