G9139A

# **General Information**

| **Position** | **9139** | **Variant** | **m.9139G\>A** | **Locus** | **MT\-ATP6** | **Amino\-AcidChange** | **A205T** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **APOGEE2** | Likely\-benign | **Pathogenicity** | Reported \- possibly synergistic |

"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.9139G\>A** variant in MT\-ATP6 has been reported in 1 pedigree. To date, 1 carrier has been reported. Homoplasmy was reported in 1/1 carriers (100%), and 1/1 carriers (100%) were affected. The main clinical manifestations among affected carriers included lHON plus myoclonus and basal ganglia calcifications in Family 1\..

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 9139 | m.9139G\>A | G9139A\-F1 | Italy | LHON plus myoclonus | 0 | 0 | 2008 | [18216301](https://pubmed.ncbi.nlm.nih.gov/18216301/) | Target G9139A/A205T localized to VI\-15 |

# **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 | 9139 | m.9139G\>A | G9139A\-F1 | G9139A\-F1\-VI15 | Fam | M | Y | Y | ND | ND | / | Homo | / | / | LHON plus myoclonus; basal ganglia calcifications in Family 1\. |  |

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