G6261A

# **General Information**

| **Position** | **6261** | **Variant** | **m.6261G\>A** | **Locus** | **MT\-CO1** | **Amino\-AcidChange** | **A120T** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **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.6261G\>A** variant in MT\-CO1 has been reported in 2 pedigrees. 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\-like optic neuropathy with central visual loss.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 6261 | m.6261G\>A | G6261A\-F1 | Saudi Arabia | LHON\-like optic neuropathy | ND | ND | 2006 | [17003408](https://pubmed.ncbi.nlm.nih.gov/17003408/) |  |
| 2 | 6261 | m.6261G\>A | G6261A\-F2 | Russia | LHON | 8 | 1 | 2019 | [31817256](https://pubmed.ncbi.nlm.nih.gov/31817256/) | Family\-level record; individual carrier identities not reported; primary m.11778G\>A plus additional m.6261G\>A. |

# **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 | 6261 | m.6261G\>A | G6261A\-F1 | G6261A\-F1\-P1 | Uninf | F | Y | Y | ND | 37 | Homo | / | / | / | LHON\-like optic neuropathy with central visual loss |  |

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