Mutation data of the MYO15 gene in deafness

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)

*1 Abbreviations are as follows: M, Missense; N, Nonsense.
*2 Abbreviations are as follows: AR, Autosomal Recessive; ND, Not Described.







Last updated 30 March 2000