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 Mutations of the Retinitis Pigmentosa GTPase Regulator Interacting Protein Gene (RPGRIP)

Recent update from: 25.03.04

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 translation start site as used in most of the recent publications of RPGRIP mutations.



CRD Ala 547 Ser GCT>TCT 1639 13
Reported as A520S
Interpretation as polymorphism by Dryja et al. due to high frequency
Hameed et al. interpret this as pathogenic
Currently no functional has proven any view


(1)
(3)
CRD Arg 827 Leu CGC>CTC 2480 16



(3)
LCA7 Trp 65 ter TGG>TAG 0195 02
Compound:
  • Asp1176delT
048-044
605446-000002 (1)
LCA7 511delT AGC TAC>AGC _AC 0511 04



-00
 		(2)
LCA7 1103delA GAA AAA GAA>GAA AA_ GAA 1103 09
Homozygous
Reported as K342delA 048-051
605446-000004 (1)
LCA7 Gln 509 ter CAA>TAA 1525 12
Homozygous


-00
 		(2)
LCA7 1501insTGTC AAA CTG>AAA TGT CCT G 15501 12



-00
 		(2)
LCA7 Gly 764 Glu GAT>GGT 2237 15
Homozygous
Present in both human isoforms +TaqI


-00
 		(2)
LCA7 2566insTT GTG CTT GTG>GTG CTT TTG TG 2566 16



-00
 		(2)
LCA7 2759insA ATT CAT GTG>ATT CA_ AGT G 2759 17
Homozygous
Reported as Q893insA 048-079
605446-000003 (1)
LCA7 3609delT CT GAT CA>CT GA_ CA 3609 22
Compound:
  • W65X
Reported as D1176delT 048-044
605446-000001 (1)
LCA7 3629insG ACA GTG>ACG AGT G 3629 23



-00
 		(2)
LCA7 3835delGAG AAG GAG ATG>AAG ___ ATG 3835 24



-00
 		(2)
Polymorphism Pro 96 Gln CCG/CAG 0287 03



(1)
Polymorphism Pro 175 Pro CCA/CCG 0525 04



(1)
Polymorphism Lys 192 Glu AAA/GAA 0574 05



(1)
Polymorphism Pro 572 Pro CCG/CCA 1797 14



(1)
Polymorphism Glu 1033 Gln GAG/CAG 3097 18
Reported as E1006Q


(1)
Polymorphism Asp 1182 Asp GAC/GAT 3546 22
Reported as D1155D


(1)
Polymorphism Ile 1260 Ile ATA/ATT 3780 24
Reported as I1233I


(1)
Uncertain Pathogeneity Arg 86 Trp CGG>TGG 0256 03
Compound:
  • single



(1)
Uncertain Pathogeneity Gln 589 His CAG>CAT 1707 14
Compound:
  • single
Reported as Q562H


(1)
Uncertain Pathogeneity Asp 876 Gly GAT>GGT 2627 16
Compound:
  • single
Reported as D849G


(1)

References

  1. Dryja,T.P., Adams,S.M., Grimsby,J.L., McGee,T.L., Hong,D.H., Li,T., Andreasson,S., and Berson,E.L. Null RPGRIP1 alleles in patients with leber congenital amaurosis. 2001; Am.J.Hum.Genet. 68: 1295-1298.
    Link to PubMed

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  2. Gerber,S., Perrault,I., Hanein,S., Barbet,F., Ducroq,D., Ghazi,I., Martin-Coignard,D., Leowski,C., Homfray,T., Dufier,J.L., Munnich,A., Kaplan,J., and Rozet,J.M. Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis. 2001; Eur.J.Hum.Genet. 9: 561-571.
    Link to PubMed

    Goto Top
  3. Hameed,A., Abid,A., Aziz,A., Ismail,M., Mehdi,S.Q., and Khaliq,S. Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy. 2003; J.Med.Genet. 40: 616-619.
    Link to PubMed
    Goto Top
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