Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

EYS

Gene name: eyes shut homolog (Drosophila)
OMIM ID: 612424
Chromosome location: 6q12

Mutations

Disease/PhenotypeRetinitis pigmentosa 25
Reference transcriptNM_001142800.1
DNA Changec.1211_1212insA
A.A. Changep.Asn404LysfsX3
Exon/Intronexon 8
Mutation Typeinsertion
ReferenceBandah-Rozenfeld D, Littink KW, Ben-Yosef T, Strom TM, Chowers I, Collin RW, den Hollander AI, van den Born LI, Zonneveld MN, Merin S, Banin E, Cremers FP, Sharon D.Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population.
Invest Ophthalmol Vis Sci. 2010 Sep;51(9):4387-94.

Disease/PhenotypeRetinitis pigmentosa 25
Reference transcriptNM_001142800.1
DNA Changec.403delA
A.A. Changep.Thr135LeufsX7
Exon/Intronexon 4
Mutation Typedeletion
ReferenceBandah-Rozenfeld D, Littink KW, Ben-Yosef T, Strom TM, Chowers I, Collin RW, den Hollander AI, van den Born LI, Zonneveld MN, Merin S, Banin E, Cremers FP, Sharon D.Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population.
Invest Ophthalmol Vis Sci. 2010 Sep;51(9):4387-94.

Disease/PhenotypeRetinitis pigmentosa 25
Reference transcriptNM_001142800.1
DNA Changec.406G>T
A.A. Changep.Val136Phe
Exon/Intronexon 4
Mutation Typesubstitution
ReferenceBandah-Rozenfeld D, Littink KW, Ben-Yosef T, Strom TM, Chowers I, Collin RW, den Hollander AI, van den Born LI, Zonneveld MN, Merin S, Banin E, Cremers FP, Sharon D.Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population.
Invest Ophthalmol Vis Sci. 2010 Sep;51(9):4387-94.

Disease/PhenotypeRetinitis pigmentosa 25
Reference transcriptNM_001142800.1
DNA Changec.410_424del
A.A. Changep.Thr135LeufsX25
Exon/Intronexon 4
Mutation Typedeletion
ReferenceBandah-Rozenfeld D, Littink KW, Ben-Yosef T, Strom TM, Chowers I, Collin RW, den Hollander AI, van den Born LI, Zonneveld MN, Merin S, Banin E, Cremers FP, Sharon D.Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population.
Invest Ophthalmol Vis Sci. 2010 Sep;51(9):4387-94.