G14279A

# **General Information**

| **Position** | **14279** | **Variant** | **m.14279G\>A** | **Locus** | **MT\-ND6** | **Amino\-AcidChange** | **S132L** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **APOGEE2** | 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.14279G\>A** variant in MT\-ND6 has been reported in 1 pedigree. To date, 3 carriers have been reported. Homoplasmy was reported in 3/3 carriers (100%), and 1/3 carriers (33\.3%) were affected. The main clinical manifestations among affected carriers included painless bilateral blurred vision, absolute central scotomas, hemorrhages, optic disc hyperemia, reduced color vision, swelling, and temporal optic disc pallor.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 14279 | m.14279G\>A | [G14279A\-F1](https://mitofam.com/doc/2166/) | Russia | LHON | 2 | 0 | 2005 | [15922297](https://pubmed.ncbi.nlm.nih.gov/15922297/) |  |

# **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 | 14279 | m.14279G\>A | G14279A\-F1 | G14279A\-F1\-IV2 | Fam | M | Y | Y | A | 16 | Homo | / | / | / | Painless bilateral blurred vision, optic disc hyperemia/swelling, hemorrhages, temporal optic disc pallor, absolute central scotomas, reduced color vision | Original label IV\-2 |
| 2 | 14279 | m.14279G\>A | G14279A\-F1 | G14279A\-F1\-III4 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | Original label III\-4 |
| 3 | 14279 | m.14279G\>A | G14279A\-F1 | G14279A\-F1\-II4 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | Original label II\-4 |

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