Table 2 of Kabir, Mol Vis 2016; 22:610-625.


Table 2. List of pathogenic mutations identified in RP1.

No. Nucleotide change Amino Acid Change Coding Exon Inheritance Reference
1 c.2029C>T p.Arg677X 4 adRP [7,86,87]
2 c.2232T>A p.Cys744X 4 adRP [7]
3 c.2303delC p.Lys769ArgfsX6 4 adRP [7]
4 c.2287_2290del p.Asn763LeufsX11 4 adRP [90]
5 c.2035C>T in cis with c.5377C>T p.Gln679X in cis with p.Pro1793Ser 4 adRP [90]
6 c.2280_2284del p.Leu762TyrfsX17 4 adRP [7]
7 c.1498_1499insGT p.Met500SerfsX33 4 adRP [88]
8 c.2171_2186del p.Gly724GlufsX9 4 adRP [88]
9 c.2594_2596del p.Thr865_Leu866delinsIle 4 adRP [88]
10 c.2613dupA p.Arg872ThrfsX2 4 adRP [88]
11 c.2284_2289del p.Leu762_Asn763del 4 adRP [88]
12 c.2206_2207insT p.Thr736IlefsX4 4 adRP [88]
13 c.2239delA p.Ser747ValfsX16 4 adRP [87]
14 c. 3157delT p.Tyr1053ThrfsX4 4 adRP [87]
15 c.2185delG p.Glu729LysfsX9 4 adRP [90]
16 c.2167G>T p.Gly723X 4 adRP [89,90]
17 c.2332A>T p.Lys778X incomplete penetrance 4 adRP [91]
18 c.1118C>T p.Thr373Ile 4 arRP [90,93]
19 c.2336_2337delCT p.Ser779X 4 adRP [92]
20 c.1606insTGAA p.Glu488X 4 arRP [48]
21 c.4703delA p.Arg1519fsX1521 4 arRP [48]
22 c.5400delA p.Asn1751fsX1754 4 arRP [48]
23 c.2005G>A p.Ala669Thr 4 Sporadic case [93]
24 c.2056C>T p.Gln686X 4 adRP [95]
25 c.2115delA p.Gly706ValfsX7 4 adRP [95]
26 c.2164_2165delinsG p.Lys722GlufsX16 4 adRP [95]
27 c.2590_2599del p.Ile864LysfsX11 incomplete penetrance 4 adRP [96]
28 c.2951A>G p.Asp984Gly 4 adRP [94,97,102]
29 c.2732C>A p.Ser911X incomplete penetrance 4 adRP [96]
30 c.2342C>G p.Ser781* 4 adRP [111]
31 c.606C>A p.Asp202Glu 2 arRP [98]
32 c.662delC p.Ala221GlyfsX43 3 arRP [98]
33 c.2847delT p.Asn949LysfsX32 4 arRP [99]
34 c.5_6delGT p.Ser2ArgfsX16 2 adRP [101]
35 c.4108A>G p.Lys1370Glu 4 adRP [100]
36 c.4941dupT p.Pro1648SerfsX13 4 adRP [101]
37 c.4955G>T p.Arg1652Leu 4 adRP [100]
38 c.2025delA p.Lys675AsnfsX7 4 adRP [112]
39 c.2169delA p.Ile725TyrfsX13 4 adRP [112]
40 c.2275A>T p.Arg759X 4 adRP [112]
41 c.1625C>G p.Ser542X 4 arRP [105,107]
42 c.33396G>A p.Trp1131X 4 arRP [104]
43 c.3418delGG p.Gly1140LysfsX4 4 arRP [109]
44 c.3428delA p.Asn1143IlefsX25 4 arRP [104]
45 c.3677_3678dupA p.Glu1227MetfsX29 4 arRP [104]
46 c.4552A>T p.Lys1518X 4 arRP [104]
47 c.1012C>T p.Arg338X 4 arRP [103]
48 c.2180_2181delinsAA p.Cys727X 4 adRP [110]
49 c.2181T>A p.Cys727X 4 adRP [110]
50 c.2194C>T p.Gln732X 4 adRP [110]
51 c.5173C>T p.Gln1725X 4 arRP [107]
52 c.4327C>T p.Arg1443Trp 4 adRP [106]
53 c.4804C>T p.Gln1602X 4 arRP [107]
54 c.2585C>G p.Ser862X 4 adRP [110]
55 c.1186C>T p.Arg396X 4 arRP [109]