Genes and Mutations in Hearing Impairment - Genetics of Auditory Disorders - page 39

TABLE 2.5. Splice-site mutations in the gene encoding human myosin VIIA
Exon

Alteration a Sequence b Mutation type Phenotype—Disease Reference

3 -2nt aÆg ccat ag GÆccat g gG 3¢ acceptor site DFNB2 —nonsyndromic deafness Liu et al. 1997

5 +1nt gÆa AG gt gÆAG a tg 5¢ donor site USH1B —Usher syndrome Adato et al. 1997

14 -8nt cÆg ctcccc ag GÆ g tccccagG 3¢ acceptor site USH1B —Usher syndrome Weston et al. 1996

16 1797 gÆa TG gt gÆT A gtg 5¢ donor site DFNB2 —nonsyndromic deafness Weil et al. 1997

18 +1nt gÆa AG gt gÆAG a tg 5¢ donor site USH1B —Usher syndrome Adato et al. 1997

24 -21nt gÆa Splicing intermediate USH1B —Usher syndrome Janecke et al. 1999

29 +2nt tÆa AG gt tÆAGg a t 5¢ donor site USH1B —Usher syndrome Levy et al. 1997

a Location of mutation relative to the exon (in the first column), and the precise mutation that is found. (i.e., in the first example, -2nt means two nucleotides
before exon 3 and the change is from “a” to “g”). All these mutations are found in the noncoding introns except in one case, where the alteration is in the
coding sequence (1797 gÆa).
b Sequence in the region of the mutation. Intron sequence is shown in lowercase and exon sequence in uppercase. The italicized nucleotide is the nucleotide
altered in the mutation. Underlined are the 5¢ donor splice site consensus “ag” and the 3¢ acceptor splice site consensus “gt.”