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Mutation Database
 Mutations of the Tubby-like Protein 1 Gene

Recent update from: 24.02.2003

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




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 TULP1 mutations.


ARRP IVS2+1g-a CAG gta-CAG ata 0099 IVS2
Compound:
  • single
  • in cis: I459L

Splice Site Mutation 		goto HGMD
(3)
ARRP IVS4-2del agA ctgca g AG-ctgc_ _ _G 0350 IVS04
Compound:
  • 896delC

Splice Site Mutation

(4)
ARRP 896delC GCC CCC CAG-G_C CCC CAG 0897 10
Compound:
  • IVS4-2del agA
previously reported as 937delC
Frameshift

(4)
ARRP IVS12+4a-g actcc-acgcc 1227 IVS12
Heterozygous
Splice Site Mutation

(2)
ARRP Arg 422 Pro CGC-CCC 1265 13
Compound:
  • F493L

previously reported as R420P 		goto HGMD
(3)
ARRP Ile 461 Leu ATA-CTA 1381 14
Compound:
  • single
  • in cis: IVS2+1g-a
previously reported as I459L 		goto HGMD
(3)
ARRP Lys 489 Arg AAG-AGG 1473 14
Homozygous
previously reported as K489R

(2)
ARRP Phe 493 Leu TTC-CTC 1477 14
Compound:
  • R422P

previously reported as F491L 		goto HGMD
(3)
Early-onset severe retinal degeneration IVS14+1g-a GAC C gtgag-GAC C atgag 1501 IVS14
Homozygous
Splice Site Mutation 		goto HGMD
(1)
Polymorphism Arg 67 Thr AGG/ACG 0200 04



(2)
(3)
Polymorphism 360del24bp GAG GAA GAG GAG GAC GAG GAG GAC GAG/GA_ ___ ___ ___ ___ ___ ___ ___ _G 0360 05
  • Heterozygous
  • Previously reported as 394del24bp
    Deletion, in frame


    		• (2)
    (4)
    Polymorphism IVS7-19t/a tgttt/tgatt 0720 IVS07



    		(3)
    Polymorphism Ala 245 Val GCG/GTG 0734 08
    		previously reported as A246V

    		(3)
    Polymorphism Ile 259 Thr ATA/ACA 0776 08



    		(3)
    Polymorphism Asn 261 Lys AAC/AAG 0783 08



    		(3)
    Polymorphism Lys 269 Gln AAA/CAA 0805 08



    		(3)
    Polymorphism IVS8-4a/c acaca/accca 0823 IVS08



    		(3)
    Polymorphism Arg 379 His CGC/CAC 1136 12
    		previously reported as R378H

    		(3)
    Polymorphism Asn 385 Asn AAC/AAT 1155 12
    		previously reported as N384N

    		(2)
    Polymorphism Thr 456 Met ACG/ATG 1366 14
    		previously reproted as T454M

    		(3)
    Polymorphism Thr 456 Thr ACG/ACA 1369 14
    		previously reported as T454T

    		(3)
    Polymorphism Ala 498 Thr GCT/ACT 1492 14
    		Heterozygously
    previously reported as A496T

    		(2)
    (3)
    Polymorphism IVS14-6c/a gtcca/gtaca 1502 IVS14
    		Homozygous
    Mutation has been discussed controversely, since no pathogenicity could be shown the editor agrees with the evaluation as polymorphism

    		(2)
    (3)

    References

    1. Banerjee,P., Kleyn,P.W., Knowles,J.A., Lewis,C.A., Ross,B.M., Parano,E., Kovats,S.G., Lee,J.J., Penchaszadeh,G.K., Ott,J., Jacobson,S.G., and Gilliam,T.C. TULP1 Mutation In Two Extended Dominican Kindreds With Autosomal Recessive Retinitis Pigmentosa. 1998; Nat.Genet. 18: 177-179.
      Link to PubMed
      Goto Top

    2. Gu,S., Lennon,A., Li,Y., Lorenz,B., Fossarello,M., North,M., Gal,A., and Wright,A. Tubby-like protein-1 mutations in autosomal recessive retinitis pigmentosa. 1998; Lancet. 351: 1103-1104.
      Link to PubMed
      Goto Top

    3. Hagstrom,S.A., North,M.A., Nishina,P.M., Berson,E.L., and Dryja,T.P. Recessive Mutations In The Gene Encoding The TUBBY-Like Protein TULP1 In Patients With Retinitis Pigmentosa. 1998; Nat.Genet. 18: 174-176.
      Link to PubMed
      Goto Top

    4. Paloma,E., Hjelmqvist,L., Bayes,M., Garcia-Sandoval,B., Ayuso,C., Balcells,S., and Gonzalez-Duarte,R. Novel mutations in the TULP1 gene causing autosomal recessive retinitis pigmentosa. 2000; Invest.Ophthalmol.Vis.Sci. 41: 656-659.
      Link to PubMed
      Goto Top

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    Database Page     		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