CYP1B1
Gene name: cytochrome P450, family 1, subfamily B, polypeptide 1OMIM ID: 601771
Chromosome location: 2p22.2
Mutations
| Disease/Phenotype | Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset |
|---|---|
| Reference transcript | NM_000104.3 |
| DNA Change | c.1090G>A |
| A.A. Change | p.Val364Met |
| Exon/Intron | exon 3 |
| Mutation Type | substitution |
| Reference | Hilal L, Boutayeb S, Serrou A, Refass-Buret L, Shisseh H, Bencherifa F, El Mzibri M, Benazzouz B, Berraho A.Screening of CYP1B1 and MYOC in Moroccan families with primary congenital glaucoma: three novel mutations in CYP1B1. Mol Vis. 2010 Jul 2;16:1215-26. |
| Disease/Phenotype | Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset |
|---|---|
| Reference transcript | NM_000104.3 |
| DNA Change | c.1103G>A |
| A.A. Change | p.Arg368His |
| Exon/Intron | exon 2 |
| Mutation Type | substitution |
| Reference | Hilal L, Boutayeb S, Serrou A, Refass-Buret L, Shisseh H, Bencherifa F, El Mzibri M, Benazzouz B, Berraho A.Screening of CYP1B1 and MYOC in Moroccan families with primary congenital glaucoma: three novel mutations in CYP1B1. Mol Vis. 2010 Jul 2;16:1215-26. |
| Disease/Phenotype | Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset |
|---|---|
| Reference transcript | NM_000104.3 |
| DNA Change | c.1168C>A |
| A.A. Change | p.Arg390Ser |
| Exon/Intron | exon 3 |
| Mutation Type | substitution |
| Reference | Hilal L, Boutayeb S, Serrou A, Refass-Buret L, Shisseh H, Bencherifa F, El Mzibri M, Benazzouz B, Berraho A.Screening of CYP1B1 and MYOC in Moroccan families with primary congenital glaucoma: three novel mutations in CYP1B1. Mol Vis. 2010 Jul 2;16:1215-26. |
| Disease/Phenotype | Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset |
|---|---|
| Reference transcript | NM_000104.3 |
| DNA Change | c.1405C>T |
| A.A. Change | p.Arg469Trp |
| Exon/Intron | exon 3 |
| Mutation Type | substitution |
| Reference | Hilal L, Boutayeb S, Serrou A, Refass-Buret L, Shisseh H, Bencherifa F, El Mzibri M, Benazzouz B, Berraho A.Screening of CYP1B1 and MYOC in Moroccan families with primary congenital glaucoma: three novel mutations in CYP1B1. Mol Vis. 2010 Jul 2;16:1215-26. |
| Disease/Phenotype | Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset |
|---|---|
| Reference transcript | NM_000104.3 |
| DNA Change | c.1409G>A |
| A.A. Change | p.Cys470Tyr |
| Exon/Intron | exon 3 |
| Mutation Type | substitution |
| Reference | Hilal L, Boutayeb S, Serrou A, Refass-Buret L, Shisseh H, Bencherifa F, El Mzibri M, Benazzouz B, Berraho A.Screening of CYP1B1 and MYOC in Moroccan families with primary congenital glaucoma: three novel mutations in CYP1B1. Mol Vis. 2010 Jul 2;16:1215-26. |
| Disease/Phenotype | Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset |
|---|---|
| Reference transcript | NM_000104.3 |
| DNA Change | c.182G>A |
| A.A. Change | p.Gly61Glu |
| Exon/Intron | exon 2 |
| Mutation Type | substitution |
| Reference | Hilal L, Boutayeb S, Serrou A, Refass-Buret L, Shisseh H, Bencherifa F, El Mzibri M, Benazzouz B, Berraho A.Screening of CYP1B1 and MYOC in Moroccan families with primary congenital glaucoma: three novel mutations in CYP1B1. Mol Vis. 2010 Jul 2;16:1215-26. |
| Disease/Phenotype | Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset |
|---|---|
| Reference transcript | NM_000104.3 |
| DNA Change | c.487C>T |
| A.A. Change | p.Arg163Cys |
| Exon/Intron | exon 2 |
| Mutation Type | substitution |
| Reference | Hilal L, Boutayeb S, Serrou A, Refass-Buret L, Shisseh H, Bencherifa F, El Mzibri M, Benazzouz B, Berraho A.Screening of CYP1B1 and MYOC in Moroccan families with primary congenital glaucoma: three novel mutations in CYP1B1. Mol Vis. 2010 Jul 2;16:1215-26. |
| Disease/Phenotype | Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset |
|---|---|
| Reference transcript | NM_000104.3 |
| DNA Change | c.517G>A |
| A.A. Change | p.Glu173Lys |
| Exon/Intron | exon 2 |
| Mutation Type | substitution |
| Reference | Hilal L, Boutayeb S, Serrou A, Refass-Buret L, Shisseh H, Bencherifa F, El Mzibri M, Benazzouz B, Berraho A.Screening of CYP1B1 and MYOC in Moroccan families with primary congenital glaucoma: three novel mutations in CYP1B1. Mol Vis. 2010 Jul 2;16:1215-26. |
| Disease/Phenotype | Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset |
|---|---|
| Reference transcript | NT_004487.19 |
| DNA Change | g.4339delG |
| A.A. Change | Frameshift followed by stop codons at position 17 |
| Exon/Intron | exon 3 |
| Mutation Type | deletion |
| Reference | Hilal L, Boutayeb S, Serrou A, Refass-Buret L, Shisseh H, Bencherifa F, El Mzibri M, Benazzouz B, Berraho A.Screening of CYP1B1 and MYOC in Moroccan families with primary congenital glaucoma: three novel mutations in CYP1B1. Mol Vis. 2010 Jul 2;16:1215-26. |
| Disease/Phenotype | Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset |
|---|---|
| Reference transcript | NT_004487.19 |
| DNA Change | g.4430_4431delTG |
| A.A. Change | p.C209fsX222 |
| Exon/Intron | 3' of the stop codon |
| Mutation Type | deletion |
| Reference | Hilal L, Boutayeb S, Serrou A, Refass-Buret L, Shisseh H, Bencherifa F, El Mzibri M, Benazzouz B, Berraho A.Screening of CYP1B1 and MYOC in Moroccan families with primary congenital glaucoma: three novel mutations in CYP1B1. Mol Vis. 2010 Jul 2;16:1215-26. |
| Disease/Phenotype | Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset |
|---|---|
| Reference transcript | NT_004487.19 |
| DNA Change | g.7901_7913del13bp |
| A.A. Change | Frameshift |
| Exon/Intron | 3' of the stop codon |
| Mutation Type | deletion |
| Reference | Hilal L, Boutayeb S, Serrou A, Refass-Buret L, Shisseh H, Bencherifa F, El Mzibri M, Benazzouz B, Berraho A.Screening of CYP1B1 and MYOC in Moroccan families with primary congenital glaucoma: three novel mutations in CYP1B1. Mol Vis. 2010 Jul 2;16:1215-26. |