Gene Symbol: MYOC
OMIM: 601652Chromosome location: 1q24.3
Related informations: NCBI Gene Genome Browser Ensembl UniProt GeneCards Kyoto Encyclopedia BioGPS HGNC HPRD | Phenotype: | Glaucoma 1A, primary open angle |
|---|
| Dna Change: | c.1440C>A |
|---|
| Protein Change: | p.Asn480Lys |
|---|
| Mutation Type: | Substitution |
|---|
| Mutation Effect: | Missense |
|---|
| Location: | UTR 3 prime |
|---|
| Transcript: | NM_000261.1 |
|---|
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|
| France | NA | Northern France | 71 patients/ 71 patients | NA | Brézin AP et al., 1998Brézin AP, Adam MF, Belmouden A, Lureau MA, Chaventré A, Copin B, Gomez L, De Dinechin SD, Berkani M, Valtot F, Rouland JF, Dascotte JC, Bach JF, Garchon HJ, . Founder effect in GLC1A-linked familial open-angle glaucoma in Northern France.. Am. J. Med. Genet.. 1998; 76(5):438-45 |
| Phenotype: | Glaucoma 1A, primary open angle |
|---|
| Dna Change: | c.1139A>C |
|---|
| Protein Change: | p.Asp380Ala |
|---|
| Mutation Type: | Substitution |
|---|
| Mutation Effect: | Missense |
|---|
| Location: | UTR 3 prime |
|---|
| Transcript: | NM_000261.1 |
|---|
| Phenotype: | Glaucoma 1A, primary open angle |
|---|
| Dna Change: | c.1130C>T |
|---|
| Protein Change: | p.Thr377Met |
|---|
| Mutation Type: | Substitution |
|---|
| Mutation Effect: | Missense |
|---|
| Location: | exon 3 |
|---|
| Transcript: | NM_000261.1 |
|---|
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|
| Greece | NA | Northwestern | 15 patients | NA | Kitsos G et al., 2010Kitsos G, Petrou Z, Grigoriadou M, Samples JR, Hewitt AW, Kokotas H, Giannoulia-Karantana A, Mackey DA, Wirtz MK, Moschou M, Ioannidis JP, Petersen MB, . Primary open angle glaucoma due to T377M MYOC: Population mapping of a Greek founder mutation in Northwestern Greece.. Clin Ophthalmol. 2010; 4(0):171-8 |
| Greece | NA | NA | NA | NA | Hewitt AW et al., 2007Hewitt AW, Samples JR, Allingham RR, Järvelä I, Kitsos G, Krishnadas SR, Richards JE, Lichter PR, Petersen MB, Sundaresan P, Wiggs JL, Mackey DA, Wirtz MK, . Investigation of founder effects for the Thr377Met Myocilin mutation in glaucoma families from differing ethnic backgrounds.. Mol. Vis.. 2007; 13(0):487-92 |
| Morocco | Berber | NA | NA | NA | Hewitt AW et al., 2007Hewitt AW, Samples JR, Allingham RR, Järvelä I, Kitsos G, Krishnadas SR, Richards JE, Lichter PR, Petersen MB, Sundaresan P, Wiggs JL, Mackey DA, Wirtz MK, . Investigation of founder effects for the Thr377Met Myocilin mutation in glaucoma families from differing ethnic backgrounds.. Mol. Vis.. 2007; 13(0):487-92 |
References
Brézin AP, Adam MF, Belmouden A, Lureau MA, Chaventré A, Copin B, Gomez L, De Dinechin SD, Berkani M, Valtot F, Rouland JF, Dascotte JC, Bach JF, Garchon HJ, Founder effect in GLC1A-linked familial open-angle glaucoma in Northern France.Am. J. Med. Genet.. 1998; 76(5):438-45
Campos-Mollo E, Sánchez-Sánchez F, López-Garrido MP, López-Sánchez E, López-Martínez F, Escribano J, MYOC gene mutations in Spanish patients with autosomal dominant primary open-angle glaucoma: a founder effect in southeast Spain.Mol. Vis.. 2007; 13(0):1666-73
Hewitt AW, Samples JR, Allingham RR, Järvelä I, Kitsos G, Krishnadas SR, Richards JE, Lichter PR, Petersen MB, Sundaresan P, Wiggs JL, Mackey DA, Wirtz MK, Investigation of founder effects for the Thr377Met Myocilin mutation in glaucoma families from differing ethnic backgrounds.Mol. Vis.. 2007; 13(0):487-92
Kitsos G, Petrou Z, Grigoriadou M, Samples JR, Hewitt AW, Kokotas H, Giannoulia-Karantana A, Mackey DA, Wirtz MK, Moschou M, Ioannidis JP, Petersen MB, Primary open angle glaucoma due to T377M MYOC: Population mapping of a Greek founder mutation in Northwestern Greece.Clin Ophthalmol. 2010; 4(0):171-8