C2639A

# **General Information**

| **Position** | **2639** | **Variant** | **m.2639C\>A** | **Locus** | **MT\-RNR2** | **RNA** | **16S rRNA** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **mitoTIP** | N/A | **Pathogenicity** | Reported |

"Pathogenicity" status is derived from published literature or predictions from bioinformatics tools. Researchers and clinicians are cautioned that additional data and/or analysis may still be necessary to confirm the pathological significance of these variants. For more information, please see [Mitofam Info](https://mitofam.com/doc/385/).

# **Pedigree Information**

The **m.2639C\>A** variant in MT\-RNR2 has been reported in 1 pedigree. To date, 1 carrier has been reported. Mutation\-load data were not available. The main clinical manifestations among affected carriers included bilateral POAG, cupping, high myopia, maximum IOP 23 mmHg, optic nerve pallor, and severe right eye and moderate left eye.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 2639 | m.2639C\>A | C2639A\-F1 | USA | Primary open\-angle glaucoma | 0 | 0 | 2016 | [27217714](https://pubmed.ncbi.nlm.nih.gov/27217714/) | Single African American POAG patient |

# **Carrier Information**

| **No.** | **Position** | **Variant** | **Family ID** | **Carrier ID** | **Type (Fam/De novo/Uninf)** | **Gender (F/M)** | **Proband (Y/N)** | **Affected (Y/N)** | **Die/Alive(D/A)** | **Age** | **Blood Mutant Level** | **Muscle Mutant level** | **Urine Mutant level** | **Other Mutant level** | **Clinical Features** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 2639 | m.2639C\>A | C2639A\-F1 | C2639A\-F1\-P1 | Uninf | F | Y | Y | A | 89 | / | / | / | / | Bilateral POAG; severe right eye and moderate left eye; high myopia; optic nerve pallor/cupping; maximum IOP 23 mmHg | single glaucoma patient |

For abbreviations and other usage instructions, please see [Mitofam Info](https://mitofam.com/doc/385/).