A8163G

# **General Information**

| **Position** | **8163** | **Variant** | **m.8163A\>G** | **Locus** | **MT\-CO2** | **Amino\-AcidChange** | **Y193C** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **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.8163A\>G** variant in MT\-CO2 has been reported in 1 pedigree. To date, 1 carrier has been reported. Reported mutation loads ranged from 0\.7% to 97\.1%, with a median of 39\.6% overall; affected carriers showed mutation loads from 0\.7% to 97\.1%, with a median of 39\.6%. In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in blood (5%), muscle (89%), urine (49%), bone marrow (49%), other tissue (97\.1%), other tissue (30\.2%), and cox\-positive fibers (6\.2%) than in cox\-deficient fibers (0\.7%). The main clinical manifestations among affected carriers included late\-onset progressive cerebellar ataxia, axonal sensorimotor neuropathy, cerebellar, cerebral atrophy, dysarthria, mild hearing loss, and tremor.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 8163 | m.8163A\>G | A8163G\-F1 | United Kingdom | Late\-onset progressive cerebellar ataxia | ND | ND | 2019 | [31167410](https://pubmed.ncbi.nlm.nih.gov/31167410/) |  |

# **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 | 8163 | m.8163A\>G | A8163G\-F1 | A8163G\-F1\-P1 | Uninf | F | Y | Y | A | 52 | 5% | 89% | 49% | 49%(BM); 97\.1\+/\-0\.7%(COX\-deficient fibers); 30\.2\+/\-6\.2%(COX\-positive fibers) | Late\-onset progressive cerebellar ataxia, tremor, dysarthria, mild hearing loss, axonal sensorimotor neuropathy, cerebellar/cerebral atrophy |  |

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