Mutation data of the ROM1 gene in retinitis pigmentosa

Mutation Type*1 Mutation position Length of affected nucleotides Nucleotide sequence after mutation Mutation name Case # Consequence Disease Hereditary pattern*2 Symptom Onset Reference
M 178 1 A P60T 1 CCT-ACT at ntd 178 ->Pro-Thr at codon 60 Retinitis pigmentosa AD no rod response late Bascom (1995) Hum. Molec. Genet. 4, 1895.
M 224 1 A G75D 1 GGC-GAC at ntd 224 -> Gly-Asp at codon 75 Retinitis pigmentosa simplex no rod response late Bascom (1995) Hum. Molec. Genet. 4, 1895.
M 323 1 T T108M 1 ACG-ATG at ntd 323 -> Thr-Met at codon 108 Retinitis pigmentosa AD no rod response late Bascom (1995) Hum. Molec. Genet. 4, 1895.
M 725 1 A R242Q 1 CGA-CAA at ntd 725 -> Arg-Gln at codon 242 Retinitis pigmentosa simplex no rod response late Bascom (1995) Hum. Molec. Genet. 4, 1895.

*1 Abbreviations are as follows: M, Missense.
*2 Abbreviations are as follows: AD, Autosomal Dominant.







Last updated 31 March 1999