OPTN
Gene name: optineurinOMIM ID: 602432
Chromosome location: 10p13
Mutations
| Disease/Phenotype | Amyotrophic lateral sclerosis 12 |
|---|---|
| Reference transcript | NM_001008211.1 |
| DNA Change | c.691_692insAG |
| A.A. Change | p.Leu231* |
| Exon/Intron | exon 8 |
| Mutation Type | insertion |
| Reference | Goldstein O, Nayshool O, Nefussy B, Traynor BJ, Renton AE, Gana-Weisz M, Drory VE, Orr-Urtreger A.
OPTN 691_692insAG is a founder mutation causing recessive ALS and increased risk in heterozygotes. Neurology. 2016 Feb 2;86(5):446-53. doi: 10.1212/WNL.0000000000002334. Epub 2016 Jan 6. |
Polymorphisms
| Disease/Phenotype | Glaucoma, primary open angle | |||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Reference transcript | NM_001008211.1 | |||||||||||||||
| DNA Change | c.293T>A | |||||||||||||||
| A.A. Change | p.Met98Lys | |||||||||||||||
| Exon/Intron | exon 5 | |||||||||||||||
| Variation Type | substitution | |||||||||||||||
| Reference SNP | rs11258194 | |||||||||||||||
| Cases | 56 POAG | |||||||||||||||
| Controls | 60 Controls | |||||||||||||||
| Frequency |
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| Comments | The frequency of the variant was similar in patients and in matched controls group | |||||||||||||||
| Reference | Melki R, Belmouden A, Akhayat O, Brezin A, Garchon HJ.The M98K variant of the OPTINEURIN (OPTN) gene modifies initial intraocular pressure in patients with primary open angle glaucoma. J Med Genet. 2003 Nov;40(11):842-4. |