G9026A

# **General Information**

| **Position** | **9026** | **Variant** | **m.9026G\>A** | **Locus** | **MT\-ATP6** | **Amino\-AcidChange** | **G167D** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **APOGEE2** | Likely\-pathogenic | **Pathogenicity** | Reported \[VUS] |

"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.9026G\>A** variant in MT\-ATP6 has been reported in 2 pedigrees. To date, 3 carriers have been reported. Reported mutation loads ranged from 4\.6% to 87%, with a median of 17\.7% overall; affected carriers showed mutation loads from 4\.6% to 87%, with a median of 17\.7%. The main clinical manifestations among affected carriers included fatigue, headaches, myalgias, intellectual disability, small fiber neuropathy, dysautonomia, frequent choking, gait ataxia, and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 9026 | m.9026G\>A | G9026A\-F1 | Germany | Spinocerebellar ataxia | 0 | 3 | 2021 | [34037856](https://pubmed.ncbi.nlm.nih.gov/34037856/) | Co\-carrier m.8950G\>A |
| 2 | 9026 | m.9026G\>A | [G9026A\-F2](https://mitofam.com/doc/1767/) | USA | Multisystem mitochondrial disease | 1 | 1 | 2019 | [30763462](https://pubmed.ncbi.nlm.nih.gov/30763462/) |  |

# **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 | 9026 | m.9026G\>A | G9026A\-F1 | G9026A\-F1\-III1 | Fam | M | Y | Y | A | 62 | 87% | / | / | / | gait ataxia; head and hand tremor | Co\-carrier m.8950G\>A |
| 2 | 9026 | m.9026G\>A | G9026A\-F2 | G9026A\-F2\-II1 | Fam | M | Y | Y | A | 11 | 17\.7\-19\.8% | 16\.4% | / | 22\.6%(F) | Intellectual disability; dysautonomia; headaches; myalgias; fatigue |  |
| 3 | 9026 | m.9026G\>A | G9026A\-F2 | G9026A\-F2\-I2 | Uninf | F | N | Y | A | 46 | 4\.6% | / | 8\.1% | / | Small fiber neuropathy; headaches; fatigue; myalgias; irritable bowel; frequent choking |  |

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