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. 2016 Jan 20;6:19432. doi: 10.1038/srep19432

Table 2. Mutations identified in the present study.

Family ID Exon Nucleotide Mutations Allele State Protein effect Mutation type dbSNP ID Protein locus SIFT/PROVEN(Cutoff0.05/-2.5)
ARRP-49 43 c.8422G>A het p.A2808T missense rs111991705 LamG Tolerated (0.051)/Neutral (–0.61)
ARRP-49 40 c.7868G>A het p.G2623E missense novel EGF Damaging (0.009)/Deleterious (–2.84)
ARRP-206 12 c.1871G>A hom p.S624L missense novel Unknown region Tolerated (0.006)/Neutral (1.69)
RP:S-2 43 c.8455delA hom p.T2819fs frameshift_del novel LamG NA/NA
RP:S-10 26 c.4606C>G het p.Q1536E missense novel Unknown region Damaging (0.000)/Neutral (0.388)
RP:S-10 26 c.5038A>G het p.N1680D missense novel Unknown region Damaging (0.000)/Neutral (-0.63)
RP:S-14 43 c.9059T>C hom P.I3020T missense novel LamG Damaging (0.000)/Neutral (–0.65)
RP:S-18 9 c.1418G>T het p.G473V missense novel Unknown region NA/NA
RP:S-18 19 c.2971C>T het p.L991F missense novel EGF Tolerated (0.541)/Neutral (–1.53)
RP:S-22 43 c.8388C>A hom p.Y2796X stopgain novel LamG NA/NA
RP:S-34 36 c.7187G>C hom p.C2396S missense novel EGF Damaging (0.000)/Deleterious (-3.84)
RP:S-40 15 c.2259+1 G>A hom splicing novel NA/NA
RP:S-48 20 c.3024C>A hom p.C1008X stopgain novel EGF-CA NA/NA