G7887A

# **General Information**

| **Position** | **7887** | **Variant** | **m.7887G\>A** | **Locus** | **MT\-CO2** | **Amino\-AcidChange** | **G101D** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **APOGEE2** | Likely\-pathogenic | **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.7887G\>A** variant in MT\-CO2 has been reported in 1 pedigree. To date, 1 carrier has been reported. Reported mutation loads ranged from 3% to 95%, with a median of 14% overall; affected carriers showed mutation loads from 3% to 95%, with a median of 14%. In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in blood (6%), muscle (78%), urine (21%), cox\-deficient fibers (95%), and cox\-positive fibers (7%) than in bone marrow (3%). The main clinical manifestations among affected carriers included cOX deficiency, progressive cerebellar ataxia, exercise intolerance, fatigue, mild hearing deficits, pigmentary retinopathy, and sensory neuropathy.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 7887 | m.7887G\>A | G7887A\-F1 | United Kingdom | Cerebellar ataxia; sensory neuropathy; exercise intolerance; mitochondrial myopathy/COX deficiency | ND | ND | 2021 | [34325999](https://pubmed.ncbi.nlm.nih.gov/34325999/) |  |

# **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 | 7887 | m.7887G\>A | G7887A\-F1 | G7887A\-F1\-P1 | De novo | M | Y | Y | A | 45 | 6% | 78% | 21% | 3%(BM); 95%(COX\-deficient fibers); 7%(COX\-positive fibers) | Progressive cerebellar ataxia, sensory neuropathy, exercise intolerance, fatigue, pigmentary retinopathy, mild hearing deficits, COX deficiency |  |

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