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