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Mutation Database
 Mutations of the Elongation of Very Long Chain Fatty Acids-like Protein 4 Gene (ELOVL4)

Recent update from: 19.08.2002

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




The mutation data for this gene are currently not adjusted to a standardised sequence and given as reported by the authors cited.


adMD 790delT T - _ 0790




(2)
adMD 194delT T - _ 0794




(2)
adMD 797del AACTT AACTT - _____ 797 6
  • Deficiency in very long chain fatty acids
  • Influence on ABCR function?
  • Destroyes 44 AA including ER retention signal


    		• (6)
    (3)
    AMD Gly 105 Glu G - A 0321 3



    		(4)
    AMD Ile 267 Thr T - C 0878 6



    		(4)
    AMD Phe 272 Gln G - C 0892 6



    		(4)
    AMD Met 299 Val A - G 0973 6
  • Most common allele


    		• (4)
    Polymorphism IVS2-99t-c t - c
    		IVS2



    		(5)
    (6)
    Polymorphism IVS4-32g/a g - a
    		IVS4



    		(4)
    Polymorphism IVS3-18c/t c - t
    		IVS3



    		(4)
    Polymorphism IVS1-24t/c t - c
    		IVS1



    		(4)
    Polymorphism Asn 117 Lys T - A 0358 3



    		(4)
    Polymorphism Trp 246 Cys G - T 0745 6
    		Homozygous

    		(4)
    Polymorphism Ala 255 Ala A - T 0765 6



    		(4)
    Polymorphism Arg 268 Trp C - T 0809 6
    		Compound:
    • single


    		(4)
    Polymorphism Met 299 Val A - G 0973 6



    		(5)
    (6)
    Polymorphism Met 299 Val A - G 973 6
    		Most common allele
    Compound:
    • 790delT+794delT


    		(4)
    (1)
    STGD3 790delT+794delT TTC TTA ACT TCT ACA - TTC _TA AC_ TCT ACA
    		6
    • Beaten metal appearance
    • Extensive subretinal flecks in the midperipheral region
    Compound:
    • M299V


    		(1)

    References

    1. Bernstein,P.S., Tammur,J., Singh,N., Hutchinson,A., Dixon,M., Pappas,C.M., Zabriskie,N.A., Zhang,K., Petrukhin,K., Leppert,M., and Allikmets,R. Diverse Macular Dystrophy Phenotype Caused by a Novel Complex Mutation in the ELOVL4 Gene. 2001; Invest Ophthalmol.Vis.Sci. 42: 3331-3336.
      Link to PubMed
      Goto Top

    2. Bernstein,P.S., Zabriskie,N.A., Tammur,J., Hutchinson,A., Dixon,M., Peiffer,A., Zhang,K., Petrukhin,K., Leppert,M., and Allikmets,R. A New Deletion in the ELOVL4 Gene Causes Autosomal Dominant Stargardt-Like Macular Dystrophy and Pattern Dystrophy. 2001; Invest Ophthalmol.Vis.Sci. 42: S323
      Goto Top

    3. Edwards,A.O., Ritter,R.L., and Donoso,L.A. Dominant vitreoretinal degeneration without systemic manifestations: Stop codon mutation in exon 2 of the COL2A1 gene in a new large family. 2001; Am.J.Hum.Genet. 69: 626
      Goto Top

    4. Kakuk,L.E., Zhang,K., Swaroop,A., Yashar,B.M., Yang,Z., Li,Y., Petrukhin,K., Sieving,P.A., Ayyagari,R., and Allikmets,R. Analysis of the ELOVL4 gene in patients with AMD and dominant macular dystrophies. 2001; Invest Ophthalmol.Vis.Sci. 42: S638
      Goto Top

    5. Li,Y., Marcos,I., Borrego,S., Yu,Z., Zhang,K., and Antino,G. Evaluation of the ELOVL4 gene in families with retinitis pigmentosa linked to the RP25 locus. 2001; J.Med.Genet. 38: 478-480.
      Link to PubMed
      Goto Top

    6. Zhang,K., Kniazeva,M., Han,M., Li,W., Yu,Z., Yang,Z., Li,Y., Metzker,M.L., Allikmets,R., Zack,D.J., Kakuk,L.E., Lagali,P.S., Wong,P.W., MacDonald,I.M., Sieving,P.A., Figueroa,D.J., Austin,C.P., Gould,R.J., Ayyagari,R., and Petrukhin,K. A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy. 2001; Nat.Genet. 27: 89-93.
      Link to PubMed
      Goto Top

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