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. 2016 Jun 10;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]

adRP: autosomal dominant RP; arRP: autosomal recessive RP.