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. Author manuscript; available in PMC: 2010 Sep 1.
Published in final edited form as: Invest Ophthalmol Vis Sci. 2009 Apr 1;50(9):4065–4071. doi: 10.1167/iovs.09-3479

Table 2.

Putative Pathogenic Changes Found in ARRP

Family Gene Location Mutation cDNA,Protein Consequence Reported/Novel Restriction Site Change, if Any
RP205 RPE65 Exon 10 c.1060delA, p.Asn356fs Frame shift Reported7 None
RP170 RP1 Exon 4 c.2847delT, p.Asn949fs Frame shift Novel None
RP126 TULP1 Exon 12 c.1199G>A, p.Arg400Gln Missense Novel Eco57I+
RP169 RLBP1 Exon 6 c.451C>T, p.Arg151Trp Missense Novel Hpy188III−
RP213 ABCA4 Exon 14 c.1995C>A, p.T665X Nonsense Novel None

Pathogenic sequence changes identified.+, denotes gain of restriction site; −, denotes loss of restriction site. Numbering is with respect to first base of ATG. Sequences referred to above have the following Ensembl Transcript Ids: RPE65, ENST00000262340; RP1, ENST00000220676; TULP1, ENST00000229771; RLBP1, ENST00000268125; and ABCA4, ENST00000370225.