A9016G

# **General Information**

| **Position** | **9016** | **Variant** | **m.9016A\>G** | **Locus** | **MT\-ATP6** | **Amino\-AcidChange** | **I164V** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **APOGEE2** | Likely\-benign | **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.9016A\>G** variant in MT\-ATP6 has been reported in 1 pedigree. To date, 2 carriers have been reported. Reported mutation loads ranged from 93%, with a median of 93% overall; affected carriers showed mutation loads from 93%, with a median of 93%. The main clinical manifestations among affected carriers included LHON, bilateral central vision loss onset 47\., central scotomas., and rapid bilateral central vision loss onset 18\.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 9016 | m.9016A\>G | [A9016G\-F1](https://mitofam.com/doc/1739/) | Russia | LHON | 0 | 3 | 2005 | [16050984](https://pubmed.ncbi.nlm.nih.gov/16050984/) |  |

# **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 | 9016 | m.9016A\>G | A9016G\-F1 | A9016G\-F1\-II2 | Uninf | F | N | Y | A | 56 | 93% | / | / | / | LHON; bilateral central vision loss onset 47\. | Mother of proband; coexisting T14484C primary LHON mutation. |
| 2 | 9016 | m.9016A\>G | A9016G\-F1 | A9016G\-F1\-III1 | Fam | M | Y | Y | A | 35 | 93% | / | / | / | LHON; rapid bilateral central vision loss onset 18; central scotomas. | Proband; coexisting T14484C primary LHON mutation. |

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