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 |