Table 1 of Shen, Mol Vis 2022; 28:96-113.

Table 1. Putative pathogenic mutations of known RP genes detected in the 20 RP families.

Family No. Inheritance Model Gene NM No. Mutation No. Nucleotide change Amino acid change State Frequencies Software predictions Reference
1000G ExAC SIFT PolyPhen PROVEAN
RP008 AR USH2A NM_206933 M1 c.99_100insT p.R34Sfs*41 comhet None None NA NA NA [16]
    NM_206933 M2 c.8559–2A>G mis-splicing comhet 0.000199681 0.00002473 NA NA NA [16]
RP015 AR USH2A NM_206933 M1 c.8559–2A>G mis-splicing comhet 0.000199681 <0.000001 NA NA NA [16]
    NM_206933 M2 c.9337dupA p.I3113Nfs*17 comhet None None NA NA NA Not reported
RP028 AR USH2A NM_206933 M1 c.8559–2A>G mis-splicing comhet 0.000199681 0.00002473 NA NA NA [16]
    NM_206933 M2 c.G14287C p.G4763R comhet None None D D D [17]
RP033 AR USH2A NM_206933 M1 c.C10498T p.Q3500* comhet None None NA NA NA Not reported
    NM_007123 M2 c.T2802G p.C934W comhet 0.000798722 0.0002 D D D [18]
RP026 AR CYP4V2 NM_207352 M1 c.T219A p.F73L comhet None 0.000008258 T B D [19]
    NM_207352 M2 c.G1169A p.R390H comhet None None D D D [20]
RP034 AR CYP4V2 NM_207352 M1 c.1091–2A>G mis-splicing comhet None 0.00003295 NA NA NA [21]
    NM_207352 M2 c.G1199A p.R400H comhet 0.000199681 0.00004118 D D D [22]
RP037 AR CYP4V2 NM_207352 M1 c.802–8_10del17bpinsGC frameshift comhet None None NA NA NA [21]
    NM_207352 M2 c.G1199A p.R400H comhet 0.000199681 0.00004118 D D D [22]
RP011 AR RP1 NM_006269 M1 c.6179delA p.E2060fs*12 hom None <0.000001 NA NA NA [23]
RP023 AD RP1 NM_006269 M1 c.C2029T p.R677* het None None NA NA NA [24]
RP025 AD RHO NM_000539 M1 c.C403T p.R135W het None None D D D [25]
RP038 AD RHO NM_000539 M1 c.C1040T p.P347L het None 0.000008263 D D D [26]
RP014 AD PRPF31 NM_015629 M1 c.967_968delGA E323Dfs*151 het None None NA NA NA Not reported
RP019 AD PRPF31 NM_015629 M1 c.327_330delCATC p.H111Sfs*86 het None None NA NA NA Not reported
RP005 AD PRPF3 NM_004698 M1 c.C1481T p.T494M het None None D D D [27]
RP010 XLR RP2 NM_006915 M1 c.758_761delTAAT p.L253fs*10 hemi None None NA NA NA Not reported
RP012 AD TOPORS NM_001195622 M1 c.2323_2324delAG p.S775* het None None NA NA NA Not reported
RP018 AR EYS NM_001142800 M1 c.7228+1G>A mis-splicing comhet None None NA NA NA [28]
    NM_001142800 M2 c.4957dupA p.S1653Kfs*2 comhet None None NA NA NA [29]
RP027 AR CNGA1 NM_001142564 M1 c.472delC p.L89Ffs*4 hom None 0.00009129 NA NA NA [30]
RP035 AR CNGB1 NM_001297 M1 c.G2006A p.W669* hom None None NA NA NA Not reported
RP036 XLR RPGR NM_000328 M1 c.T773C p.L258P hemi None None D D D Not reported

Mutations not reported were bolded in the table. AR, autosomal reccessive; AD, autosomal dominant; XLR, X-linked reccessive; comhet, compound heterozyous; het, hetrozygous; hom, homozygous; hemi, hemizygous; NA, not applicable; D, damaging.

Shen, Mol Vis 2022; 28:96-113. http://www.molvis.org/molvis/v28/96

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