EYS
Gene name: eyes shut homolog (Drosophila)OMIM ID: 612424
Chromosome location: 6q12
Mutations
| Disease/Phenotype | Retinitis pigmentosa 25 |
|---|---|
| Reference transcript | NM_001142800.1 |
| DNA Change | c.1211_1212insA |
| A.A. Change | p.Asn404LysfsX3 |
| Exon/Intron | exon 8 |
| Mutation Type | insertion |
| Reference | Bandah-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/Phenotype | Retinitis pigmentosa 25 |
|---|---|
| Reference transcript | NM_001142800.1 |
| DNA Change | c.403delA |
| A.A. Change | p.Thr135LeufsX7 |
| Exon/Intron | exon 4 |
| Mutation Type | deletion |
| Reference | Bandah-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/Phenotype | Retinitis pigmentosa 25 |
|---|---|
| Reference transcript | NM_001142800.1 |
| DNA Change | c.406G>T |
| A.A. Change | p.Val136Phe |
| Exon/Intron | exon 4 |
| Mutation Type | substitution |
| Reference | Bandah-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/Phenotype | Retinitis pigmentosa 25 |
|---|---|
| Reference transcript | NM_001142800.1 |
| DNA Change | c.410_424del |
| A.A. Change | p.Thr135LeufsX25 |
| Exon/Intron | exon 4 |
| Mutation Type | deletion |
| Reference | Bandah-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. |