Mutation data of the RHOK gene in Oguchi disease

Mutation type*1 Mutation position Length of affected nucleotides Nucleotide sequence after mutation Mutation name Case # Consequence Disease Symptom Hereditary pattern*2 Onset Ethnic Origin Reference
LD 1069 126   deletion of exon 5 4 6.2 kb deletion encompassing exon 5 Oguchi disease stationary night blindness and Mizuo phenomenon AR early European Yamamoto,S. et al. Nature Genet.15,175-178(1997)
M 1139 1 A V380D 1 GTC-GAC --> Val-Asp at codon 380 Oguchi disease stationary night blindness and Mizuo phenomenon AR early European Yamamoto,S. et al. Nature Genet.15,175-178(1997)
FD 1607 4   1607delCGGA 1 4-bp del of CGGA at nucleotides 1607-1610 --> frameshift at codon 536 Oguchi disease stationary night blindness and Mizuo phenomenon AR early European Yamamoto,S. et al. Nature Genet.15,175-178(1997)

*1 Abbreviations are as follows: M, Missense; LD, Large Deletion; FD, Frameshift Deletion.
*2 Abbreviations are as follows: AR, Autosomal Recessive.







Last updated 31 March 1999