Scientific Newsletter Logo Retina International's

Scientific Newsletter


Mutation Database
Mutations of the Phosphodiesterase type 6

Recent update from: 20.07.99


Phosphodiesterase 6, alpha Subunit

Phenotype Mutation Basechange Nucleotide Exon Restriction Site Classification
& Remarks
Mutation Database OMIM Reference

Mutation map




Map

ARRP Ser 344 Arg AGC-AGA
7

CM950920 180071-0002 (8)
ARRP Trp 561 Ter TGG-TGA
13

CM950921 180071-0003 (8)
ARRP Tyr 583 ter TAC-TAG
14

CM950922 180071-0001 (8)

Phosphodiesterase 6, beta Subunit

Phenotype Mutation Basechange Nucleotide Exon Restriction Site Classification
& Remarks
Mutation Database OMIM Reference

cosegregation analysis not possible cp 0 0





Mutation map




Map


no cosegregation nc 0 0




ADRP IVS8-10g-a G-A
8
Compound
L228H


(6)
ADRP
GT-AT
18
Missense did not segregate with disease

(6)
ADRP IVS5-8 ins 22bp ins 22 bp
5
Missense did not segregate with disease
One control was positive


(6)
ADRP Glu 166 Lys

2
Heterozygous
Missense did not segregate with disease


(6)
ADRP Tyr 212 His TAC-CAC 0634 3
Missense did not segregate with disease
One control was positive


(6)
ADRP Leu 228 His



Compound
IVS8-10g-a


(6)
ARRP Arg 74 Cys CGC-TGC 0220 01 -MvnI


(17)
ARRP Arg 74 ins C CGC-CCGC 0220 01 +HaeII


(17)
ARRP 240 dup ins 7bp
0240 01


180072-0006 (2)
ARRP IVS2-1g-t agG-atG
IVS2
Splice error CS951476
(3) (11)
ARRP Tyr 219 His TAC-CAC 0655 03



(13)
ARRP Leu 228 His CTC-CAC 0683 03



(13)
ARRP Cys 270 ter TGC-TGA 0710 04
Homozygous
History of night vision disturbances


(4)
ARRP Gln 298 ter CAG-TAG 0892 05

CM930573 180072-0001 (10)
ARRP Pro 496 delC CCC-CC 1488 12


18007240003 (10)
ARRP Arg 552 Gln CGG-CAG 1655 13



(15)
ARRP Leu 527 Pro CTG-CCG 1580 12 +MspI
CM950923
(10)
ARRP Arg 531 ter CGA-TGA 1591 12

CM930574 180072-0002 (10)
ARRP Arg 552 Gln CGG-CAG 1655 13

CM961058
(14)
ARRP His 557 Tyr CAC-TAC 1669 13

CM950924 180072-0004 (10)
ARRP Gly 576 Asp GGC-GAC 1727 14

CM950925
(3)
ARRP Asp 600 Asp GAC-AAC 1800 14



(1)
ARRP His 620delC CAC-AC 1858 15

CD951783
(3)
ARRP Leu 699 Arg CTG-CGG 2096 17

CM961059
(16)
ARRP Lys 706 ter AAG-TAG 2116 17

CM950926
(3)
ARRP IVS18+1g-a Ggt-Gat
IVS18



(10)
ARRP Leu 854 Val CTG-GTG 2560 22



(17)
CSNB His 258 Asn CAC-CAA 0774 04

CM941138 18007-0005 (5)
Polymorphism Asp 205 Asp GAC-GAT 0615 02



(17)
Polymorphism Leu 228 Ile CTC-ATC 0682 03



(9)
Polymorphism IVS3-11c-a gcccc tccc-gccac tccc
03



(17)
Polymorphism Ser 291 Ser TCT-TCC 0873 05



(10)
Polymorphism Thr 305 Thr ACG-ACA 0915 05



(9)
Polymorphism IVS6 CCCGGGG-CCCCGGG
IVS6
Sequence is not detected in HSCGMP1-4

(10)
Polymorphism IVS7-15c-a TTTCTGA-TTTATGA
IVS7



(17)
Polymorphism Ser 361 Ser TCC-TTC 1082 08 +MvnI


(17)
Polymorphism IVS9+46g-c gaggggtg-gagcggtg
IVS9



(10)
Polymorphism IVS9+42c-t ctgcgag-ctgtgag
IVS9



(10)
Polymorphism IVS11+42c-t ccacgtg-ccatgtg
IVS11



(10)
Polymorphism Leu 489 Gln CTG-CAG
11



(12)
Polymorphism IVS11+21c-t GGTCCCT-GGTTCCT
IVS11



(10)
Polymorphism 317g-a g-a
5'UTR



(17)
Polymorphism Arg 552 Arg C-T
13



(17)
Polymorphism IVS13+14a-c gccagaa-gcccgaa
IVS13



(17)
Polymorphism Arg 705 Arg CGG-CGA 2115 17



(10)
Polymorphism Val 732 Val GTC-GTA 2196 19



(17)
Polymorphism IVS19+26a-t TCCACTC-TCCTCTC
IVS19



(10)
Polymorphism IVS20+22c-t ttccgag-ttctgag
IVS20



(10)
Polymorphism Gly 842 Gly GGC-GGT 2526 22



(10)
Polymorphism IVS22+11a-g CCATGG-CCGTGG
IVS22



(10)
Polymorphism IVS22+2119c-a gacggcc-gaaggcc
IVS22



(10)
Polymorphism , cp Ala 155 Ser GCC-TCC 0463 01
cp

(10)
Polymorphism , cp Glu 166 Lys GAG-AAG 0496 02
cp

(10)
Polymorphism , nc Tyr 219 His TAC-CAC 0655 03
nc

(10)
Polymorphism , nc Arg 602 His CGC-CAC 1805 14
nc

(10)

Phosphodiesterase 6, gamma Subunit

Phenotype Mutation Basechange Nucleotide Exon Restriction Site Classification
& Remarks
Mutation Database OMIM Reference
Polymorphism Pro 27 His CCC-CAC 080 1
Heterozygous in 7 of 12 asymptomatic relatives

(7)
Polymorphism Asp 52 Asp GAC-GAT 159 2



(7)
Polymorphism 270g-c cgaggcc-cgacgcc 270 3'UTR



(7)

References

1. Baiget, M., Calaf, M., del Rio, E., Reig, C., Carballo, M., and Calvo, M. Identification of two allelic mutations at codons 298 and 600 of the PDEB gene in two affected siblings of an ARRP Spanish family. 1996; Am.J.Hum.Genet. 59: A392
Goto Top

2. Bayes, M., Giordano, M., Balcells, S., Grinberg, D., Vilageliu, L., Martinez, I., Ayuso, C., Benitez, J., Ramosarroyo, M.A., Chivelet, P., Solans, T., Valverde, D., Amselem, S., Goossens, M., Baiget, M., Gonzalezduarte, R., and Besmond, C. Homozygous tandem duplication within the gene encoding the beta-subunit of rod phosphodiesterase as a cause for autosomal recessive retinitis pigmentosa. 1995; Hum.Mutat. 5: 228 - 234.
Goto Top

3. Danciger, M., Blaney, J., Gao, Y.Q., Zhao, D.Y., Heckenlively, J.R., Jacobson, S.G., and Farber, D.B. Mutations in the PDE6B gene in autosomal recessive retinitis pigmentosa. 1995; Genomics. 30: 1 - 7.
Goto Top Link to PudMed

4. Danciger, M., Heilbron, V., Yong-Qing, G., Dan-Zhu, Z., Jacobson, S.G., and Farber, D.B. A homozygous PDE6B mutation in a family with autosomal recessive Retinitis Pigmentosa. 1996; Mol.Vis. 2: 10
Goto Top
Human Mutation Online

5. Gal, A., Orth, U., Baehr, W., Schwinger, E., and Rosenberg, T. Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness. 1994; Nat.Genet. 7: 551
Goto Top Link to PudMed

6. Gao, Y.Q., Danciger, M., Zhao, D.Y., Blaney, J., Piriev, N.I., Shih, J., Jacobson, S.G., Heckenlively, J.H., and Farber, D.B. Screening of the PDE6B gene in patients with autosomal dominant retinitis pigmentosa. 1996; Experimental Eye Research. 62: 149 - 154.
Goto Top

7. Hahn, L.B., Berson, E.L., and Dryja, T.P. Evaluation of the gene encoding the gamma subunit of rod phosphodiesterase in retinitis pigmentosa. 1994; Invest.Ophthalmol.Vis.Sci. 35: 1077 - 1082.
Goto Top

8. Huang, S.H., Pittler, S.J., Huang, X., Oliveira, L., Berson, E.L., and Dryja, T.P. Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase. 1995; Nat.Gen. 11: 468 - 471.
Goto Top Link to PudMed

9. McLaughlin, M.E., Ehrhardt, T.L., Sandberg, M.A., Berson, E.L., and Dryja, T.P. Mutations in the beta subunit of rod phosphodiesterase in patients with autosomal recessive Retinitis pigmentosa. 1994; Invest.Ophthalmol.Vis.Sci. 35 (Suppl.): 1718
Goto Top

10. McLaughlin, M.E., Ehrhart, T.L., Berson, E.L., and Dryja, T.P. Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa. 1995; Proc.Natl.Acad.Sci.U.S.A. 92: 3249 - 3253.
Goto Top Link to PudMed

11. Piriev, N.I., Shih, J.M., and Farber, D.B. Defective RNA splicing resulting from a mutation in the cyclic guanosine monophosphate-phosphodiesterase beta-subunit gene. 1998; Invest.Ophthalmol.Vis.Sci. 39: 463 - 470.
Goto Top Link to PudMed

12. Riess, O., Noerremoelle, A., Weber, B., Musarella, M.A., and Hayden, M.R. The search for mutations in the gene for the beta subunit of the cGMP phosphodiesterase (PDEB) in patients with autosomal recessive retinitis pigmentosa. 1992; Am.J.Hum.Genet. 51: 755 - 762.
Goto Top

13. Tiller, G.E., Polumbo, P.A., Heinzmann, C., Kojis, T.L., and Bateman, J.B. The gene for the ?-subunit of rod cGMP phosphodiesterase (PDEB) is tightly linked to the huntington locus on human chromosome 4p16. 1994; Invest.Ophthalmol.Vis.Sci. 35 (Suppl.): 1265
Goto Top

14. Valverde, D., Seminago, R., del Rio, E., Ayuso, C., Garcia-Sandoval, B., del Rio, T., Bayes, M., Balcells, S., Gonzalez-Duarte, R., and Baiget, M. An homozygous G to A transition in exon 13 of the b subunit of rod phosphodiesterase in two RP patients of a consanguineous family. 1995; Am.J.Hum.Genet. 57: A230
Goto Top

15. Valverde, D., Baiget, M., Seminago, R., del Rio, E., Garcia Sandoval, B., del Rio, T., Bayes, M., Balcells, S., Martinez, A., Grinberg, D., and Ayuso, C. Identification of a novel R552Q mutation in exon 13 of the beta- subunit of rod phosphodiesterase gene in a Spanish family with autosomal recessive retinitis pigmentosa. 1996; Hum.Mutat. 8: 393 - 394.
Goto Top

16. Valverde, D., Solans, T., Grinberg, D., Balcells, S., Vilageliu, L., Bayes, M., Chivelet, P., Besmond, C., Goossens, M., Gonzalez Duarte, R., and Baiget, M. A novel mutation in exon 17 of the beta-subunit of rod phosphodiesterase in two RP sisters of a consanguineous family. 1996; Hum.Genet. 97: 35 - 38.
Goto Top

17.Veske, A., Orth, U., Rüther, K., Zrenner, E., Rosenberg, T., Baehr, W., Gal, A. Mutations in the gene for the ?-subunit of rod photoreceptor cGMP-specific phosphodiesterase (PDEB) in patients with retinal dystrophies and dysfunctions. in Anderson, R.E., LaVail, M.M., Hollyfield, J.G. eds. Degenerative Diseases of the Retina. 1995; Plenum Press, New York, London: 35, p. 313 - 322.
Goto Top


Return to Retina International's
Scientific Newsletter
Return to
Mutation Database Page
Return to pagehead

Contact the editor: irpamp@irpa.org
Return to
Database Page
This site is maintained and edited by
Dr. rer. medic. Markus Preising, Dipl.Biol.
Molecular Genetics Laboratory
Department of Pediatric Ophthalmology, Strabismology and Ophthalmogenetics
University of Regensburg
Head: Prof. Dr. med. Birgit Lorenz