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Mutations of the MER Receptor Tyrosine Kinase Gene (MERTK)

Recent update from: 11.03.04

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

0 0
The mutation data for this gene are currently not adjusted to a standardised sequence and given as reported by the authors cited.



ARRP IVS10-2a-g a>g
IVS10
Homozygous
Parents not consanguineous as reported
UPD


(1)
(2)
ARRP Glu 540 Lys G>A 1618 11
Compound:
  • single
  • In cis: S661C



(1)
ARRP Arg 651 ter CGA>TGA 1951 14
Heterozygous


(1)
ARRP Ser 661 Cys C>G 1982 15
Compound:
  • single
  • In cis: E540K



(1)
ARRP Ile 871 Thr T>C 2612 19
Heterozygous


(1)
Polymorphism Arg 293 His



Equally found in patients and controls


(1)
Polymorphism Arg 20 Ser



Equally found in patients and controls


(1)
Polymorphism Ala 282 Thr



Equally found in patients and controls


(1)
Polymorphism Arg 466 Lys



Equally found in patients and controls


(1)
Polymorphism Asn 498 Ser



Equally found in patients and controls


(1)
Polymorphism Ile 518 Val



Equally found in patients and controls


(1)
Polymorphism Asn 118 Ser



Equally found in patients and controls


(1)
Polymorphism 2070delAGGAC GAC AGG ACC AAA/GAC ___ __C AAA 2070 15
Homozygous


(1)
Polymorphism Ile 871 Val A/G 2608 19
Equally found in patients and controls


(1)
Retinal Degeneration UPD Duplication of maternal allele with loss of paternal allele 000 00
Markers used:
  • D2S1780
  • D2S423
  • D2S1360
  • D2S1788
  • D2S1356
  • D2S1352
  • D2S1394
  • D2S1790
  • D2S1328
  • D2S442
  • D2S1326
  • D2S1399
  • D2S1776
  • D2S1384
  • D2S434
  • D2S125
  • D2S427
      arRP185


(2)

References

  1. Gal,A., Li,Y., Thompson,D.A., Weir,J., Orth,U., Jacobson,S.G., Apfelstedt-Sylla,E., and Vollrath,D. Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa. 2000; Nat.Genet. 26: 270-271.
    Link to PubMed

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  2. Thompson,D.A., McHenry,C.L., Li,Y., Richards,J.E., Othman,M.I., Schwinger,E., Vollrath,D., Jacobson,S.G., and Gal,A. Retinal Dystrophy Due to Paternal Isodisomy for Chromosome 1 or Chromosome 2, with Homoallelism for Mutations in RPE65 or MERTK, Respectively. 2001; Am.J.Hum.Genet. 70:
    Link to PubMed

    Goto Top
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