Supplementary Table 2. A partial list of GUCY2D mutations identified in different phenotypic
forms of retinal degeneration*
Disease
Inheritance
Protein Domain
Exon
Mutation
References
LCA
LCA
AR
AR
Extracellular
Extracellular
2
2
p.M1I
p.G18-L33 dup
1, 2
LCA
AR
Extracellular
2
c.226-239 del
1, 2
LCA
RP
AR
AR
Extracellular
Extracellular
2
2
p.L41F
p.L41F
1, 2
LCA
AR
Extracellular
2
p.T55M
4
LCA
AR
Extracellular
2
p.E103V
4
LCA
LCA
AR
AR
Extracellular
Extracellular
2
2
5
LCA
AR
Extracellular
2
LCA
AR
Extracellular
2
p.C105Y
p.N129K
c.389delC (reported as
c.387delC)
c.622delC (c.620delC)
LCA
AR
Extracellular
3
p.T312M
4, 7-9
LCA
LCA
AR
AR
Extracellular
Extracellular
3
3
p.R313C
p.L325P
1, 2
LCA
LCA
LCA
AR
AR
AR
Extracellular
Extracellular
Kinase-like
4
4
7
p.Y351C
p.S448*
p.Q525Rfs*38
LCA
LCA
LCA
AR
AR
AR
Kinase-like
Kinase-like
Kinase-like
7
8
8
p.R540C
p.F565S
c.1805-1829del
LCA
LCA
LCA
AR
AR
AR
Kinase-like
Kinase-like
Kinase-like
9
10
10
p.W640L
p.R660Q
p.R660G
4
LCA
RP
LCA
AR
AR
AR
Kinase-like
Kinase-like
Kinase-like
10
10
11
p.P701S
p.P701S
p.I734A
3, 5, 12, 13
LCA
AR
Dimerization
12
p.R768W
2, 4, 13, 14
LCA
AR
Dimerization
12
p.L782H
9
LCA
AR
Dimerization
12
p.M784R
4
LCA
AR
Dimerization
12
p.R795Q
13
LCA
LCA
AR
AR
Dimerization
Dimerization
12
13
p.R795W
p.I816S
8
LCA
LCA
AR
AR
Dimerization
Catalytic
13
15
p.P858S
p.A934P
5
1, 2
3
1
1, 2, 6
1, 2, 6
5
2
2
10
1, 2
1, 2, 6
1, 2
9, 11
4
14
4
15
2
LCA
AR
Catalytic
15
p.L954P
5, 8, 9
LCA
AR
Catalytic
15
p.R976L
1, 2
LCA
LCA
AR
AR
Catalytic
Catalytic
15
16
c.2943delG
p.C984Y
LCA
AR
Catalytic
16
c.3043+4A>T
17
LCA
LCA
AR
AR
Catalytic
Catalytic
16
16
p.R995W
p.S1007L
1, 2
LCA
LCA
LCA
AR
AR
AR
Catalytic
Catalytic
Catalytic
16
17
17
p.M1009L
c.3078-3079delGA
p.H1019P
LCA
AR
Catalytic
17
p.Q1036*
LCA
Juvenile RP
AR
AR
Catalytic
Catalytic
17
18
p.R1040*
p.P1069Rfs*37
2
RP
AR
Catalytic
19
c.3236insACCA
17
CD
CRD
CRD/CD
AD
AD
AD
Kinase-like
Dimerization
Dimerization
8
13
13
p.P575L
p.E837D
p.R838C
18, 19
CRD
AD
Dimerization
13
p.R838G
25, 27
CRD/CD
AD
Dimerization
13
p.R838H
CRD/CD
CRD
CD
CRD
AD
AD
AD
AD
Dimerization
Dimerization
Dimerization
Dimerization
13
13
13
13
CRD
AD
Dimerization
13
CRD
CD
CRD
AD
AD
AD
Dimerization
Dimerization
Dimerization
13
13
14
p.R838P
p.E837D / p.R838S
p.E841K
p.K846N
p.E837D / p.R838C/
p.T839M
p.Q847_K848delinsLQ
p.T849A
p.I915T / p.G917R
CRD
AR
Catalytic
15
p.I949T
35
CACD
AD
Catalytic
15
p.V933A
36
2, 8, 9, 16, 17
7
4
1
1, 2
1, 2
1, 2
14
20, 21
19-27
, this study
19, 21-25, 27, 28
this study
29, 30
21, 31
this study
this study
32
33
34
24
LCA, Leber congenital amaurosis; RP retinitis pigmentosa; CD, cone dystrophy; CRD, cone-rod
dystrophy; CACD, central areolar choroidal dystrophy; AD, autosomal dominant; AR, autosomal
recessive.
* For additional mutations identified in LCA patient cohorts please refer to cited publications, especially
work by Dharmaraj et al. 2000, Perrault et al. 2000, Hanein et al. 2004, Li et al. 2011.
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