MERTK

Gene name: c-mer proto-oncogene tyrosine kinase
OMIM ID: 604705
Chromosome location: 2q13

Mutations

Disease/Phenotype	Retinitis pigmentosa 38
Reference transcript	NM_006343.2
DNA Change	c.2189+1G>T
A.A. Change	skipping of exon 16 and premature truncation
Exon/Intron	intron 16
Mutation Type	substitution
Reference	Charbel Issa P, Bolz HJ, Ebermann I, Domeier E, Holz FG, Scholl HP.Characterisation of severe rod-cone dystrophy in a consanguineous family with a splice site mutation in the MERTK gene. Br J Ophthalmol. 2009 Jul;93(7):920-5.

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Disease/Phenotype	Retinitis pigmentosa 38
Reference transcript	NM_006343.2
DNA Change	c.2323C>T
A.A. Change	p.Arg775X
Exon/Intron	exon 17
Mutation Type	substitution
Reference	Ksantini M, Lafont E, Bocquet B, Meunier I, Hamel CP.Homozygous mutation in MERTK causes severe autosomal recessive retinitis pigmentosa. Eur J Ophthalmol. 2011 Dec 13:0.

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