mutations
CEP290
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Nucleotide nomenclature (HGVS) :
c.4732G>T
c.5668G>T
c.5824C>T
c.3176del
c.21G>T
c.4656del
c.2218-4_2222del
c.4771C>T
c.7341dup
c.3175dup
c.5515_5518del
c.5649dup
c.6331C>T
c.2991+1655A>G
c.2249T>G
c.2118_2122dup
c.5866G>T
c.3814C>T
c.679_680del
c.265dup
c.180+1G>T
c.1550del
c.4115_4116del
c.4966G>T
c.5813_5817del
c.5587-1G>C
c.1859_1862del
c.5226+1G>A
c.5163del
c.1992del
c.1219_1220del
c.1593C>A
c.2T>A
c.4723A>T
c.1709C>G
c.5850del
c.4661_4663del
c.1711+5A>G
c.1936C>T
c.6604del
c.5256_5257del
c.4882C>T
c.3922C>T
c.3292G>T
c.4962_4963del
c.4028del
c.384_387del
c.4965_4966del
c.103-13_103-18del
c.1666del
c.6031C>T
c.5611_5614del
c.1682_1683del
c.5941G>T
c.4393C>T
c.3811C>T
c.5734del
c.1985A>T
c.6277del
c.4791_4794del
c.5434_5435del
c.5722G>T
c.6072C>A
c.7318_7321dup
c.5493del
c.6870del
c.2251C>T
c.6869del
c.1645C>T
c.4195-1G>A
c.1361del
c.3310-1G>C
c.6271-8T>G
c.287del
c.1260_1264del
c.613C>T
c.3175del
c.180+2T>A
c.381_382delinsT
c.1860_1861del
c.2906dup
c.3793C>T
c.3043G>T
c.3104-1G>A
c.1984C>T
c.1066-1G>A
c.1A>G
c.1419_1423del
c.164_167del
c.3104-2A>G
c.5932C>T
c.1991A>G
c.7311_7313del
c.566C>G
c.5046del
c.5776C>T
c.2218-15_2220del
c.2488C>T
c.297+36A>G
c.829G>C
c.930A>G
c.2052+30del
c.2055T>C
c.2217+45T>C
c.2268G>A
c.2343T>C
c.2512A>G
c.2717T>G
c.4704+46del
c.4806G>A
c.5709+25A>C
c.5709+45G>C
c.6522+12dup
c.6684T>G
c.7035-38C>G
c.7210-22T>C
c.4114_4115del
c.322C>T
c.2991+1655A>G
c.2695C>T
c.2991+1655A>G
c.5344C>T
c.2991+1655A>G
c.384_385del
c.2991+1655A>G
c.437del
c.2991+1655A>G
c.3422dup
c.2991+1655A>G
c.4001del
c.2991+1655A>G
c.5519_5537del
c.2991+1655A>G
c.5865_5867delinsGG
c.2991+1655A>G
c.1189+1G>A
c.2991+1655A>G
c.2218-2A>C
c.3310-1_3310delinsAA
c.4696G>C
c.1824G>A
c.5081T>C
c.7366_7369del
c.1910-2A>C
c.-94_*455del
c.-94_*455del
c.-94_*455del
c.-94_*455del
c.1880C>T
c.2273A>C
c.451C>T
Patient ID :
COR27 V:1
COR27 V:2
COR27 V:4
COR51 II:1
COR51 II:2
MTI133 II:1
MTI133 II:2
MK05 II:2
COR22 II:1
F4 II-1
F4 II-2
F63 II-1
F256 II-1
F256 II-4
A197 II-1
F89 II-1
F700 III-4
F700 III-6
F944 III-1
F944 III-2
F91 II-1
French-Canadian family IV-6
French-Canadian family IV-7
French-Canadian family IV-8
French-Canadian family IV-9
12832
13168
14964
15103
15212
16317
17971
20152
21365
21393
21918
27228
27242
27245
27246
27250
818
821
831
850
695
290
654
726
798
13011
13045
13108
659
552
416
623
738
848
809
797
800
543
A3 15 years
A3 13 years
D582
105 11 yrs
105 1 yrs
166 (1)
166 (2)
166 (3)
166 (4)
166 (5)
196
247
264
317
334
355
382
389
420
445
513
258
419
LEP
F9-1
F9-2
F72-1
COR083
COR145
MTI333a
MTI333b
COR109
COR003
COR084
MTI154
MTI125
COR004a
COR004b
MTI328
MTI273
COR125
MTI487
MTI118
MTI286
MTI111a
MTI111b
COR031
COR001
COR002a
COR002b
MTI012
MTI587
F99-1
F358-1
F358-2 (first cousin of F358-1)
F375-1
F419-1
F265-1
F265-2 (sister of F265-1)
P1
P2
P3
P4
P5
P6
P7
P8
4
5
312
2607
3501
304
303
407
650
387
712
380
381
03/485
05/158
A372 II-1
A372 II-2
A989 II-1
F101 II-2
F57 II-1
F122 II-2
A1332 II-1
F938 II-1
F848 II-1
F459 II-2
A854 II-9
23
24
F972 2
F972 1
A1
A4
A141
A12
A
B
C
D
04
1
2
LCA-1
Pol1
Pol1
Pol1
Pol2
Pol3
Pol4
Pol5
Pol6
Pol7
Pol8
Pol9
Pol10
Pol11
Pol12
Pol13
Pol14
Pol15
Pol16
Pol17
Pol18
Pol19
testpat
3
4
5
6
7
8
LCA-2
LCA-3
LCA-4
LCA-5
LCA-6
LCA-7
LCA-8
LCA-9
LCA-10
LCA-11
LCA-12
LCA-13
LCA-14
LCA-16
LCA-17
LCA-18
LCA-19
LCA-20
LCA-23
LCA-22
LCA-21
LCA-24
LCA-25
LCA-26
LCA-27
SLS-1
SLS-3
SLS-2
LCA-JS-2
LCA-JS-3 II-2
LCA-JS-3 II-1
LCA-JS-4
18871
Protein nomenclature (HGVS) :
p.Glu1578X
p.Gly1890X
p.Gln1942X
p.Ile1059LysfsX6
p.Trp7Cys
p.Glu1553LysfsX4
p.?
p.Gln1591X
p.Leu2448ThrfsX8
p.Ile1059AsnfsX11
p.Glu1839LysfsX11
p.Leu1884ThrfsX23
p.Gln2111X
p.Cys998X; wild-type
p.Leu750X
p.Thr709SerfsX9
p.Glu1956X
p.Arg1272X
p.Glu227SerfsX2
p.Thr89AsnfsX2
p.?
p.Leu517X
p.Ile1372LysfsX5
p.Glu1656X
p.Thr1938AsnfsX16
p.?
p.Arg621IlefsX2
p.?
p.Thr1722GlnfsX2
p.Pro665LeufsX10
p.Met407GlufsX14
p.Tyr531X
p.Met1?
p.Lys1575X
p.Glu1903X
p.Ser570X
p.Phe1950LeufsX15
p.Glu1554del
p.?
p.Gln646X
p.Ile2202LeufsX24
p.Ala1753ArgfsX7
p.Gln1628X
p.Gln1308X
p.Glu1098X
p.Glu1656AsnfsX3
p.Lys1343ArgfsX2
p.Asp128GlufsX34
p.Glu1656AsnfsX3
p.?
p.Ile556PhefsX17
p.Arg2011X
p.Gln1871ValfsX2
p.Gln561ArgfsX14
p.Glu1981X
p.Arg1465X
p.Arg1271X
p.Trp1912GlyfsX11
p.Gln662Leu
p.Val2093SerfsX4
p.Lys1598SerfsX8
p.Glu1812LysfsX5
p.Glu1908X
p.Tyr2024X
p.Leu2441SerfsX16
p.Ala1832ProfsX19
p.Gln2291LysfsX10
p.Arg751X
p.Asn2290IlefsX11
p.Arg549X
p.?
p.Gly454GlufsX5
p.?
p.?
p.Asn96MetfsX29
p.Lys421GlyfsX2
p.Arg205X
p.Ile1059X
p.?
p.Lys127AsnfsX36
p.Asp622PhefsX5
p.Tyr969X
p.Gln1265X
p.Glu1015X
p.?
p.Gln662X
p.?
p.Met1?
p.Ile474ArgfsX5
p.Thr55SerfsX3
p.?
p.Arg1978X
p.Asp664Gly
p.Lys2437del
p.Ser189X
p.Val1683X
p.Arg1926X
p.?
p.Arg830Trp
p.?
p.Glu277Gln
p.=
p.?
p.=
p.?
p.=
p.=
p.Lys838Glu
p.Leu906Trp
p.?
p.=
p.?
p.?
p.?
p.Asn2228Lys
p.?
p.?
p.[Gly218Ala; Ser320Cys]
p.Ile1372LysfsX5
p.Arg108X
p.Cys998X
p.Gln899X
p.Cys998X
p.Arg1782X
p.Cys998X
p.Asp128GlufsX17
p.Cys998X
p.Glu146GlyfsX17
p.Cys998X
p.Leu1141PhefsX5
p.Cys998X
p.Thr1334IlefsX2
p.Cys998X
p.Lys1840ArgfsX5
p.Cys998X
p.Glu1956GlyfsX9
p.Cys998X
p.?
p.Cys998X
p.?
p.?
p.Ala1566Pro
p.=
p.Leu1694Pro
p.Thr2457AlafsX27
p.?
p.0
p.0
p.0
p.0
p.Thr627Met
p.His758Pro
p.Arg151X
Family ID :
COR27
COR51
MTI133
MK05
COR22
F4
F63
F256
A197
F89
F700
F944
F91
French-Canadian family
12832
13168
14964
15103
15212
16317
17971
20152
21365
21393
21918
27228
27242
27245
27246
27250
A3
105
166
F9
F72
MTI333
COR004
MTI111
COR002
F99
F358
F375
F419
F265
sibs
1
2
3
4
5
6
7
8
9
10
A372
A989
F101
F57
F122
A1332
F938
F848
F459
A854
Kosovo-Albanian multiplex family
F972
KK51
S1
S2
LCA-1
Pol
Pol1
Pol2
Pol3
Pol4
Pol5
Pol6
Pol7
Pol8
Pol9
Pol10
Pol11
Pol12
Pol13
Pol14
Pol15
Pol16
Pol17
Pol18
Pol19
testfam
S3
S4
S5
S6
S7
S8
LCA-2
LCA-3
LCA-4
LCA-5
LCA-6
LCA-7
LCA-8
LCA-9
LCA-10
LCA-11
LCA-12
LCA-13
LCA-14
LCA-16
LCA-17
LCA-18
LCA-19
LCA-20
LCA-23
LCA-22
LCA-21
LCA-24
LCA-25
LCA-26
LCA-27
SLS-1
SLS-3
SLS-2
LCA-JS-2
LCA-JS-3
LCA-JS-4
W02-004
Advanced search
Variant information
General features
Type of variation :
mutation
unclassified variant
polymorphism
RNA effect :
identical to DNA mutation
promotor activity
splicing change
RNA stability
poly A addition
unknown
Base change :
base substitution
base(s) deletion
base(s) insertion
duplication
unknown
complex
Subjected to NMD :
Yes
No
Not applicable
Protein change :
missense (aminoacid sub)
nonsense (stop codon)
truncating deletion
in-frame deletion
in-frame insertion
truncating insertion
no effect
unknown
two changes
Grantham score :
Control frequency :
- Select -
Yes
No
Origin of controls :
Italy and Asia
Italy and Asia - not mentioned
not mentioned
not mentioned - ethnically matched
French Canadian - Dutch - Spanish
Central Europe, Middle East, East Asia and US
ethnially matched - European-descended
ethnically matched
Caucasian
Dutch
Identification technique :
Direct sequencing (Sanger)
Next-generation sequencing (Illumina)
Next-generation sequencing (454)
Next-generation sequencing (Solid)
Asper Ophthalmics LCA chip
SSCP
PTT
DGGE
CCM
EMC
DHPLC
dideoxy fingerprinting
FISH
heteroduplex analysis
mRNA screening
other
Allele-specific PCR
unknown
Location
Exon :
Exon 1
Exon 1 - 5'UTR
Intron 1
Exon 2 - 5'UTR
Exon 2 - CDS
Intron 2
Exon 3
Intron 3
Exon 4
Intron 4
Exon 5
Intron 5
Exon 6
Intron 6
Exon 7
Intron 7
Exon 8
Intron 8
Exon 9
Intron 9
Exon 10
Intron 10
Exon 11
Intron 11
Exon 12
Intron 12
Exon 13
Intron 13
Exon 14
Intron 14
Exon 15
Intron 15
Exon 16
Intron 16
Exon 17
Intron 17
Exon 18
Intron 18
Exon 19
Intron 19
Exon 20
Intron 20
Exon 21
Intron 21
Exon 22
Intron 22
Exon 23
Intron 23
Exon 24
Intron 24
Exon 25
Intron 25
Exon 26
Intron 26
Exon 27
Intron 27
Exon 28
Intron 28
Exon 29
Intron 29
Exon 30
Intron 30
Exon 31
Intron 31
Exon 32
Intron 32
Exon 33
Intron 33
Exon 34
Intron 34
Exon 35
Intron 35
Exon 36
Intron 36
Exon 37
Intron 37
Exon 38
Intron 38
Exon 39
Intron 39
Exon 40
Intron 40
Exon 41
Intron 41
Exon 42
Intron 42
Exon 43
Intron 43
Exon 44
Intron 44
Exon 45
Intron 45
Exon 46
Intron 46
Exon 47
Intron 47
Exon 48
Intron 48
Exon 49
Intron 49
Exon 50
Intron 50
Exon 51
Intron 51
Exon 52
Intron 52
Exon 53
Intron 53
Exon 54 - CDS
Exon 54 - 3'UTR
Intron 54
Exon 55
Domain :
SMC homology domain
ATP/GTP-binding site motif A domain
bipartite nuclear localization domain
RepA/Rep+ protein KID domain VI
RepA/Rep+ protein KID domain V
RepA/Rep+ protein KID domain IV
RepA/Rep+ protein KID domain III
RepA/Rep+ protein KID domain II
RepA/Rep+ protein KID domain I
tropomyosin homology domain III
tropomyosin homology domain II
tropomyosin homology domain I
coiled-coil domain XIII
coiled-coil domain XII
coiled-coil domain XI
coiled-coil domain X
coiled-coil domain IX
coiled-coil domain VIII
coiled-coil domain VII
coiled-coil domain VI
coiled-coil domain V
coiled-coil domain IV
coiled-coil domain III
coiled-coil domain II
coiled-coil domain I
Nucleotide range :
Amino acid range :
Presence in public databases
SwissProt :
- Select -
Yes
No
dbSNP :
- Select -
Yes
No
OMIM :
- Select -
Yes
No
Public database ID :
Patient information
General features
Origin :
Afghanistan
Albania
Algeria
American Samoa
Andorra
Angola
Anguilla
Antarctica
Antigua and Barbuda
Argentina
Armenia
Aruba
Australia
Austria
Azerbaijan
Bahamas
Bahrain
Bangladesh
Barbados
Belarus
Belgium
Belize
Benin
Bermuda
Bhutan
Bolivia
Bosnia
Botswana
Bouvet Island
Brazil
British Indian Ocean Territory
Brunei Darussalam
Bulgaria
Burkina Faso
Burundi
Cambodia
Cameroon
Canada
Cape Verde
Cayman Islands
Central African Republic
Chad
Chile
China
Christmas Island
Cocos (Keeling) Islands
Colombia
Comoros
Congo
Congo, Democratic Republic Of
Cook Islands
Costa Rica
Ivory Coast
Croatia (Hrvatska)
Cuba
Cyprus
Czech Republic
Denmark
Djibouti
Dominica
Dominican Republic
East Timor
Ecuador
Egypt
El Salvador
Equatorial Guinea
Eritrea
Estonia
Ethiopia
Falkland Islands (Malvinas)
Faroe Islands
Fiji
Finland
France
French Guiana
French Polynesia
French Southern Territories
Gabon
Gambia
Georgia
Germany
Ghana
Gibraltar
Greece
Greenland
Grenada
Guadeloupe
Guam
Guatemala
Guinea
Guinea-Bissau
Guyana
Haiti
Heard and McDonald Islands
Herzegovina
Honduras
Hong Kong
Hungary
Iceland
India
Indonesia
Iran
Iraq
Ireland
Israel
Italy
Jamaica
Japan
Jordan
Kazakhstan
Kenya
Kiribati
Korea, Democratic Peoples Republic Of
Korea, Republic Of
Kosovo, Republic Of
Kuwait
Kyrgyzstan
Laos
Latvia
Lebanon
Lesotho
Liberia
Libya
Liechtenstein
Lithuania
Luxembourg
Macau
Macedonia, Republic Of
Madagascar
Malawi
Malaysia
Maldives
Mali
Malta
Marshall Islands
Martinique
Mauritania
Mauritius
Mayotte
Mexico
Micronesia, Federated States Of
Moldova
Monaco
Mongolia
Montserrat
Morocco
Mozambique
Myanmar
Namibia
Nauru
Nepal
Netherlands
Netherlands Antilles
New Caledonia
New Zealand
Nicaragua
Niger
Nigeria
Niue
Norfolk Island
Northern Mariana Islands
Norway
Oman
Pakistan
Palau
Palestinian Authority
Panama
Papua New Guinea
Paraguay
Peru
Philippines
Pitcairn
Poland
Portugal
Puerto Rico
Qatar
Reunion
Romania
Russian Federation
Rwanda
Saint Kitts and Nevis
Saint Lucia
Saint Vincent and The Grenadines
Samoa
San Marino
Sao Tome and Principe
Saudi Arabia
Senegal
Seychelles
Sierra Leone
Singapore
Slovakia
Slovenia
Solomon Islands
Somalia
South Africa
Spain
Sri Lanka
St. Helena
St. Pierre and Miquelon
Sudan
Suriname
Svalbard and Jan Mayen Islands
Swaziland
Sweden
Switzerland
Syria
Taiwan
Tajikistan
Tanzania
Thailand
Togo
Tokelau
Tonga
Trinidad and Tobago
Tunisia
Turkey
Turkmenistan
Turks and Caicos Islands
Tuvalu
Uganda
Ukraine
United Arab Emirates
United Kingdom
United States Of America
Uruguay
Uzbekistan
Vanuatu
Vatican
Venezuela
Vietnam
Virgin Islands (British)
Virgin Islands (U.S.)
Wallis and Futuna Islands
Western Sahara
Yemen
Yugoslavia
Zambia
Zimbabwe
Gender :
Male
Female
Unkown
Age :
From :
0
1
2
3
4
5
6
7
8
9
10
11
12
13
14
15
16
17
18
19
20
21
22
23
24
25
26
27
28
29
30
31
32
33
34
35
36
37
38
39
40
41
42
43
44
45
46
47
48
49
50
51
52
53
54
55
56
57
58
59
60
61
62
63
64
65
66
67
68
69
70
71
72
73
74
75
76
77
78
79
80
81
82
83
84
85
86
87
88
89
90
91
92
93
94
95
96
97
98
99
100
years
0
1
2
3
4
5
6
7
8
9
10
11
months
0
1
2
3
4
5
6
7
8
9
10
11
12
13
14
15
16
17
18
19
20
21
22
23
24
25
26
27
28
29
30
31
32
33
34
35
36
37
38
39
40
weeks
before birth
after birth
To :
0
1
2
3
4
5
6
7
8
9
10
11
12
13
14
15
16
17
18
19
20
21
22
23
24
25
26
27
28
29
30
31
32
33
34
35
36
37
38
39
40
41
42
43
44
45
46
47
48
49
50
51
52
53
54
55
56
57
58
59
60
61
62
63
64
65
66
67
68
69
70
71
72
73
74
75
76
77
78
79
80
81
82
83
84
85
86
87
88
89
90
91
92
93
94
95
96
97
98
99
100
years
0
1
2
3
4
5
6
7
8
9
10
11
months
0
1
2
3
4
5
6
7
8
9
10
11
12
13
14
15
16
17
18
19
20
21
22
23
24
25
26
27
28
29
30
31
32
33
34
35
36
37
38
39
40
weeks
before birth
after birth
Parental consanguinity :
Yes
No
Unkown
Segregation :
Yes
No
Unkown
De novo
In
cis
Deceased :
Yes
No
Unkown
Phenotypic features
Disease :
Joubert Syndrome
Senior Loken Syndrome
Leber Congenital Amaurosis
Meckel Syndrome
Bardet-Biedl Syndrome
Joubert syndrome associated with retinopathy
Joubert syndrome associated with renal involvement
Cerebello-oculo-renal syndrome
Cerebellar vermis hypo/aplasia, Oligophrenia, congenital Ataxia, Coloboma and Hepatic fibrosis
Oral-facio-digital syndrome, type VI
Meckel-like
Nephronophthisis
Healthy
Symptom(s) :
Source information
Paper :
Li Y et al., Invest Ophthalmol Vis Sci 2009, Mutation survey of known LCA genes and loci in the Saudi Arabian population
Seong MW et al., Mol Vis 2008, Molecular characterization of Leber congenital amaurosis in Koreans
Leitch CC et al., Nat Genet 2008, Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome
Vallespin E et al., Mol Vis 2007, Frequency of CEP290 c.2991_1655A>G mutation in 175 Spanish families affected with Leber congenital amaurosis and early-onset retinitis pigmentosa
Stone EM et al., Am J Ophthalmol 2007, Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture
McEwen DP et al., Proc Natl Acad Sci U S A 2007, Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons
Simonelli F et al., Invest Ophthalmol Vis Sci 2007, Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients
Frank V et al., Hum Mutat 2008, Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome
Helou J et al., J Med Genet 2007, Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome
Baala L et al., Am J Hum Genet 2007, Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome
Brancati F et al., Am J Hum Genet 2007, CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders.
Cideciyan AV et al., Hum Mutat 2007, Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis
Tory K et al., J Am Soc Nephrol 2007, High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations
Perrault I et al., Hum Mutat 2007, Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype
den Hollander AI et al., Am J Hum Genet 2006, Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis
Sayer JA et al., Nat Genet 2006, The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4
Valente EM et al., Nat Genet 2006, Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome
Littink Karin W et al., Investigative ophthalmology & visual science 2010, A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotype.