Scientific Newsletter Logo Mutation Database
Mutations of the Human Crumbs Homologue 1
(CRB1)

Recent update from: 29.08.2004
Phenotype Mutation Basechange Nucleotide Exon Restriction Site Classification
& Remarks
Mutation Database OMIM Reference
Sequence

0 0
The sequence data are adjusted to a sequence given in a WORD file which can be downloaded here. Nucleotides are counted from the transcription start site as used in most of the recent publications of ABCR mutations.




ARRP 478insG AAT GGG GCC>AAT GGG GGC C 0478 02
FS 168ter
Consanguineous
Homozygous
M-717


(1)
ARRP 2882delTAT CAA ATA TTA TTC>CAA A__ _TA TTC 2882 09

Compound
  • single

B15


(1)
ARRP Cys 1321 Ser TGC>AGC 3961 11
Homozygous
DRP-1


(7)
ARRP 3343del10bp CAT GGT TTC ATT AAT>CAT ___ ___ ___ _AT 3961 09
Homozygous
DRP-2
Goto HGMD
(7)
ARRP (RP12) Ala 161 Val GCC>GTC 0482 02
Homozygous 25983 Goto HGMD
(3)
ARRP (RP12) Cys 250 Trp TGT>TGG 0750 03
Homozygous RP112 Goto HGMD
(3)
ARRP (RP12) Ser 403 ter TCA>TGA 1208 06
Heterozygous
Compound:
  • R764C
24228
Goto HGMD
(3)
ARRP (RP12) 2186insAluY TC ATC TTT ACT CTT GAT GAG >TC ATC TTT ACT C-AluY-TC ATC TTT ACT CTT GAT GAG 2186 07
Previously reported as 2320insAlu
Homozygous 25977
goto HGMD 604210-0001 (3)
ARRP (RP12) Thr 745 Met ACG>ATG 2234 07
Homozygous
Compound:
  • C948Y
24868, 25540
Goto HGMD 604210-0005 (3)
ARRP (RP12) 2244delATC CCA TCA GGC>CC_ __A GGC 2244 07

Compound
  • C948Y
M-641


(1)
ARRP (RP12) Arg 764 Cys CGT>TGT 2290 07
Compound:
  • E995X
  • S403X
24228, 26023
Goto HGMD
(3)
ARRP (RP12) Cys 948 Tyr TGT>AGT 2842 08

Compound
  • 2244delATC

M-641


(1)
ARRP (RP12) Cys 948 Tyr TGT>TAT 2843 08
Heterozygous
Compound:
  • T745M
  • 2845+5g>a
25710
Goto HGMD
(3)
ARRP (RP12) IVS8+5g>a tagag>taaag 2845 IVS08
Reported as 2978+5g>a
Compound:
  • C948Y
25710
Goto HGMD
(3)
ARRP (RP12) 2882delTAT ATA TTA >A__ _TA 2882 09

M-641


(1)
ARRP (RP12) Glu 995 ter GAG>TAG 2983 09
Compound:
  • R764C
26023
Goto HGMD 604210-0003 (3)
ARRP (RP12) Met 1041 Thr ATG>ACG 3122 09
Homozygous 22147 Goto HGMD 604210-0002 (3)
ARRP (RP12) Leu 1071 Pro CTC>CCC 3212 09
Homozygous RP0136 Goto HGMD
(3)
early onset RP Cys 891 Gly TGC>GGC 2671 07

Compound
  • I1100T
B-102


(1)
early onset RP Cys 948 Tyr TGT>AGT 2842 08

Compound
  • I1100T
LCA when homozygous
M-69


(1)
early onset RP + macular symptoms Ile 1100 Thr ATA>ACA 3299 09

Compound
  • C948Y
  • C891G
M-69
B-102


(1)
LCA Ile 205 Thr ATA>ACA 0614 02
In the 5. EGF-domain
Compound
  • single
M-489


(1)
LCA6 111delT AAT TCT>AA_ TCT 0111 02
Heterozygous
Compound:
  • single

goto HGMD
(6)
LCA6 285insGT GTG AAC>GTG GTA AC 0258 02
Heterozygous
Compound:
  • C948Y
15


(6)
LCA6 428del5bp AGA TTC TGT>A__ ___ TGT 0428 02
Heterozygous
Compound:
  • single
1
goto HGMD
(6)
LCA6 Phe 144 Val TTC>GTC 0430 02
Heterozygous
Compound:
  • L470L
2
Goto HGMD
(6)
LCA6 611del7bp AAT GAA ATA GGA AGA>AAT G__ ___ __A AGA 0611 02
Heterozygous
Compound:
  • C480R
3
goto HGMD
(6)
LCA6 613del7bp GAA ATA GGA AGA TAT>GAA A__ ___ __A TAT 0613 02
Compound:
  • C948Y
187S


-00
(5)
LCA6 616del6bp ATA GGA AGA TAT>ATA ___ ___ TAT 0616 02
Reported as 748del6bp
Heterozygous
Compound:
  • K801X
Isolated case 16690


(2)
LCA6 Thr 289 Met ACG>ATG 0866 04
Heterozygous
Compound:
  • single
4
M-43
Goto HGMD
(6)
(1)
LCA6 Cys 383 Tyr TGT>TAT 1148 05
Heterozygous
Compound:
  • 2613insT
5
Goto HGMD
(6)
LCA6 Cys 480 Arg TGT>CGT 1438 06
Heterozygous
Compound:
  • 611del7bp
3
Goto HGMD
(6)
LCA6 Cys 480 Gly TGT>TAT 1439 06
Heterozygous
Compound:
  • single

Goto HGMD
(6)
LCA6 Asp 584 Tyr GAA ATA GGA AGA TAT>GAA A__ ___ __A TAT 1750 06
Homozygous 200S

-00
(5)
LCA6 Cys 681 Tyr TGT>TAT 2042 06
Compound:
  • N549N
7
Goto HGMD
(6)
LCA6 Glu 710 Gln AGA G gagca>AGA C gagca 2128 06
Homozygous
Compound
  • L1107R
2F
2.2F


(5)
LCA6 3988delG GGC GAG>GGC _AG 2222 11
Compound
  • M741T
131S


(5)
LCA6 Met 741 Thr ATG>ACG 2222 07
Compound
  • 3988delG
131S


(5)
LCA6 Thr 745 Met ACG>ATG 2234 07
Compound:
  • S1025I
161S


-00
(5)
LCA6 Arg 764 Cys CGT>TGT 2290 07
Heterozygous
Compound:
  • single
  • C948Y
  • G827X
8
9
206S

604210-0004 (6)
(5)
LCA6 >100 bp poly A ins CAA AAC>CAA A100 AAC 2434 07
Heterozygous
Compound:
  • single

goto HGMD
(6)
LCA6 Lys 801 ter AAG>TAG 2441 07
Homozygous
Compound:
  • 748del6bp
Isolated cases 16690, 12862
Goto HGMD 604210-0008 (2)
LCA6 Gly 827 ter GGA>TGA 2479 07
Heterozygous
Compound
  • R764C
206S


-00
(5)
LCA6 2548del4bp AAA GGC TGT>AAA ___ _GT 2548 07
Heterozygous
Compound:
  • single

goto HGMD
(6)
LCA6 Ile 852 Thr ATC>ACC 2555 07
Compound:
  • IVS11+1G>A
163S


-00
(5)
LCA6 2613insT AAT GCA>AAT TGC A 2613 07
Heterpzygous
Compound:
  • C383Y
5


(6)
LCA6 Cys 896 ter TGT>TGA 2688 08
Homozygous 42S

(5)
LCA6 Cys 948 Tyr TGT>TAT 2843 08
Homozygous
Heterozygous
Compound:
  • R764C
  • single
  • 86insGT
  • 613del7bp
  • C1321G
Isolated cases 12831
16507
9
11
12
13
14
15
16
41S
80F
187S


(2)
(6)
(5)
LCA6 2853insT AAT GCT>AAT TGC T 2853 09
Homozygous 124S

(5)
LCA6 Ser 1025 Ile AGT>ATT 3074 09
Compound:
  • T745M
  • L1107P
161S
164S


-00
(5)
LCA6 Ile 1100 Arg ATA>AGA 3299 09
Compound:
  • E1333X
Recessive inheritance 12859
Goto HGMD 604210-0006 (2)
LCA6 Gly 1103 Arg GGA>AGA 3307 09
Compound
  • 3345delT
154S


(5)
LCA6 Leu 1107 Pro CTC>CCC 3320 09
Homozygous
Compound
  • E710Q
  • S1025I
164S


(5)
LCA6 Leu 1107 Arg CTC>CGC 3320 09
Homozygous
Compound
  • E710Q
2.1F
2.2F
14S


(5)
LCA6 Glu 1111 ter GAA>TAA 3331 09
Compound:
  • IVS10+1G-T
Isolated case 13067
Goto HGMD
(2)
LCA6 3345delT GGT TTC>GG_ TTC 3345 09
Compound
  • G1103R
154S


(5)
LCA6 Gly 1205 Arg GGA>AGA 3614 09
Heterozygous
Compound:
  • single
17
Goto HGMD
(6)
LCA6 Trp 1293 ter TGG>TGA 3879 10
Homozygous 202S

-00
(5)
LCA6 IVS10+1g>t TGG T gagtc>TGG T tagtc 3880 IVS10
Reported as: 4013+1g>t
Heterozygous
Compound:
  • E1111X
Isolated case 13067
Goto HGMD
(2)
LCA6 Asn 1317 His AAC>CAC 3949 11
Heterozygous
Compound:
  • single
18
Goto HGMD
(6)
LCA6 Cys 1321 Ser TGC>AGC 3961 11
Homozygous
DRP-1
54.1S


(7)
(5)
LCA6 Glu 1333 ter TGC>TGA 3997 11
Compound:
  • I1100R
  • single
Recessive inheritance 12859
Goto HGMD 604210-0007 (2)
LCA6 Cys 1332 ter TGC>TGA 3997 11
Compound:
  • I1100R
  • single
Recessive inheritance 19
Goto HGMD
(6)
LCA6 IVS11+1G>A GAC gta>GAC ata 4005 IVS11
Compound:
  • I852T
163S


-00
(5)
LCA6 4121del10bp GG GCA ACT CAG GGA ACC>GG G__ ___ ___ __A ACC 4118 12
Homozygous
Disrupts an AA sequence that is crucial for the function
Consanguineous Pakistani
80F


(4)
(5)
Polymorphism IVS1-12t/a ttatt/ttttt 0071 IVS1




(1)
Polymorphism IVS2+42t/a tttct>ttact 0651 IVS2





(1)
Polymorphism IVS2-12t/a tgact/tgtct 0654 IVS02




(6)
(1)
Polymorphism IVS4-53t/g gctct>gcgct 0990 IVS4





(1)
Polymorphism IVS4-64t/g tttag>ttgag 0990 IVS4





(1)
Polymorphism IVS4-48del4bp aatg ctct/aa__ __ct 0990 IVS04
Reported as IVS3-48del4bp


(6)
Polymorphism IVS5+35c/t ttctg/ttttg 1171 IVS05




(6)
Polymorphism Leu 470 Leu CTG/CTA 1410 06
Heterozygous
Compound:
  • F144V
2
V-4
M-489


(6)
(1)
Polymorphism Thr 476 Thr ACC/ACT 1428 06




(6)
Polymorphism Asn 549 Asn AAT/AAC 1647 06
Heterozygous
Compound:
  • C681Y
7
B-141


(6)
(1)
Polymorphism IVS6-54g/t ttgag/tttag 2130 IVS06




(6)
Polymorphism Arg 769 Gln CGC/CAG 2347 07
Heterozygous
Compound:
  • single
B-50
goto HGMD
(6)
(1)
Polymorphism Pro 941 Pro CCG/CCA 2823 08




(6)
Polymorphism Asn 1057 Asn AAC/AAT 3171 09

M-68


(6)
(1)
Polymorphism Arg 1331 His CGC/CAC 3992 11
Heterozygous
Compound:
  • single
Recessive inheritance
found in control 12859
M-40
Goto HGMD
(2)
(6)
(1)
Rare Sequence Variant -268g>a g>a -0268 5'UTR


M-69


(1)
Rare Sequence Variant Gln 679 Glu CAA/GAA 2035 06

M-180


(1)
Rare Sequence Variant Arg 769 His CGC/CAC 2306 07

B-50


(1)
RP + Coats like exudates Ser 403 ter TCA>TGA 1208 06
Rezessive inheritance
Heterozygous
Compound:
  • R764C
  • in Cis: Y433C
9439


(2)
RP + Coats like exudates Tyr 433 Cys TAT>TGT 1298 06
Rezessive inheritance
Heterozygous
Compound:
  • R764C
  • in Cis: S403X
9439
Goto HGMD
(2)
RP + Coats like exudates Arg 764 Cys CGT>TGT 2290 07
Rezessive inheritance
Heterozygous
Compound:
  • S403X/Y433C
9439


(2)
RP + Coats like exudates Lys 801 ter AAG>TAG 2441 07
Compound:
  • C1181R
Recessive inheritance 17658


(2)
RP + Coats like exudates Asp 837 His GAC>CAC 2509 07
Compound:
  • A1354T
Recessive inheritance 16937
Goto HGMD
(2)
RP + Coats like exudates Asn 894 Ser AAC-AGC 2681 08
Rezessive inheritance
Heterozygous
Compound:
  • single
  • C948Y
  • in Cis: A1354T
16937, 16894
Goto HGMD
(2)
RP + Coats like exudates Cys 948 Tyr TGT>TAT 2843 08
Rezessive inheritance and isolated
Compound:
  • D837H/A1354T
  • 2845+5g>a
16937, 16968


(2)
RP + Coats like exudates IVS8+5g>a tagag>taaag 2845 IVS08
Isolated case
Reported as 2978+5g>a
Compound:
  • C948Y
16968


(2)
RP + Coats like exudates Cys 1181 Arg TGC>CGC 3541 09
Compound:
  • K801X
Recessive inheritance 17658
Goto HGMD 604210-0009 (2)
RP + Coats like exudates Ala 1354 Thr GCC>ACC 4060 12
Rezessive inheritance
Compound:
  • C948Y
  • in Cis: D837H
16937


(2)

References

  1. Bernal,S., Calaf,M., Garcia-Hoyos,M., Garcia-Sandoval,B., Rosell,J., Adan,A., Ayuso,C., and Baiget,M. Study of the involvement of the RGR, CRPB1, and CRB1 genes in the pathogenesis of autosomal recessive retinitis pigmentosa. 2003; J.Med.Genet. 40: e89
    Link to PubMed

    Goto Top
  2. den Hollander,A.I., Heckenlively,J.R., van den Born,L.I., de Kok,Y.J., Velde-Visser,S.D., Kellner,U., Jurklies,B., van Schooneveld,M.J., Blankenagel,A., Rohrschneider,K., Wissinger,B., Cruysberg,J.R., Deutman,A.F., Brunner,H.G., Apfelstedt-Sylla,E., Hoyng,C.B., and Cremers,F.P. Leber Congenital Amaurosis and Retinitis Pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene. 2001; Am.J.Hum.Genet. 69: 198-203.
    Link to PubMed

    Goto Top
  3. den Hollander,A.I., ten Brink,J.B., de Kok,Y.J., van Soest,S., van den Born,L.I., van Driel,M.A., van de Pol,D.J.R., Payne,A.M., Bhattacharya,S.S., Kellner,U., Hoyng,C.B., Westerveld,A., Brunner,H.G., Bleeker Wagemakers,E.M., Deutman,A.F., Heckenlively,J.R., Cremers,F.P.M., Bergen,A.A.B., van de Pol,D.J., Bleeker-Wagemakers,E.M., Heckenlively,J.R., Cremers,F.P., and Bergen,A.A. Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12). 1999; Nat.Genet. 23: 217-221.
    Link to PubMed

    Goto Top
  4. Gerber,S., Perrault,I., Hanein,S., Shalev,S., Zlotogora,J., Barbet,F., Ducroq,D., Dufier,J., Munnich,A., Rozet,J., and Kaplan,J. A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis. 2002; Ophthalm.Genet. 23: 225-235.
    Link to PubMed

    Goto Top
  5. Hanein,S., Perrault,I., Gerber,S., Tanguy,G., Barbet,F., Ducroq,D., Calvas,P., Dollfus,H., Hamel,C., Lopponen,T., Munier,F., Santos,L., Shalev,S., Zafeiriou,D., Dufier,J.L., Munnich,A., Rozet,J.M., and Kaplan,J. Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. 2004; Hum Mutat. 23: 306-317.
    Link to PubMed
    Goto Top
  6. Lotery,A.J., Jacobson,S.G., Fishman,G.A., Weleber,R.G., Fulton,A.B., Namperumalsamy,P., Heon,E., Levin,A.V., Grover,S., Rosenow,J.R., Kopp,K.K., Sheffield,V.C., and Stone,E.M. Mutations in the CRB1 gene cause Leber congenital amaurosis. 2001; Arch.Ophthalmol. 119: 415-420.
    Link to PubMed
    Goto Top
  7. Lotery,A.J., Malik,A., Shami,S.A., Sindhi,M., Chohan,B., Maqbool,C., Moore,P.A., Denton,M.J., and Stone,E.M. CRB1 mutations may result in retinitis pigmentosa without para-arteriolar RPE preservation. 2001; Ophthalmic Genet. 22: 163-169.
    Link to PubMed
    Goto Top

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This site is maintained and edited by
Dr. rer. medic. Markus Preising, Dipl.Biol.
Molecular Genetics Laboratory
Department of Paediatric Ophthalmology, Strabismology and Ophthalmogenetics
University of Regensburg
Head: Prof. Dr. med. Birgit Lorenz