C14482A

# **General Information**

| **Position** | **14482** | **Variant** | **m.14482C\>A** | **Locus** | **MT\-ND6** | **Amino\-AcidChange** | **M64I** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \+ | **APOGEE2** | Pathogenic | **Pathogenicity** | Cfrm \[LP] |

"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.14482C\>A** variant in MT\-ND6 has been reported in 5 pedigrees. To date, 8 carriers have been reported. Homoplasmy was reported in 4/8 carriers (50%), and 6/8 carriers (75%) were affected. The main clinical manifestations among affected carriers included LHON, brisk reflexes, central scotomas, sudden painless bilateral visual loss, typical LHON, VA\_LA\_0\.08, VA\_RA\_0\.05, affected\_maternal\_line\_no, and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 14482 | m.14482C\>A | C14482A\-F1 | Turkey | Leber hereditary optic neuropathy | 0 | 0 | 2002 | [11931086](https://pubmed.ncbi.nlm.nih.gov/11931086/) |  |
| 2 | 14482 | m.14482C\>A | C14482A\-F2 | Germany | LHON | 0 | 0 | 2002 | [12150954](https://pubmed.ncbi.nlm.nih.gov/12150954/) |  |
| 3 | 14482 | m.14482C\>A | C14482A\-F3 | Italy | LHON | 0 | 0 | 2012 | [22879922](https://pubmed.ncbi.nlm.nih.gov/22879922/) |  |
| 4 | 14482 | m.14482C\>A | C14482A\-F4 | Germany | LHON | 0 | 0 | 2012 | [22879922](https://pubmed.ncbi.nlm.nih.gov/22879922/) |  |
| 5 | 14482 | m.14482C\>A | [C14482A\-F5](https://mitofam.com/doc/2101/) | Italy | LHON | 2 | 1 | 2002 | [12112086](https://pubmed.ncbi.nlm.nih.gov/12112086/) |  |

# **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 | 14482 | m.14482C\>A | C14482A\-F1 | C14482A\-F1\-P1 | Fam | M | Y | Y | A | 10y | Homo | / | / | / | Sudden painless bilateral visual loss; central scotomas; temporal optic disc pallor; peripapillary microangiopathy |  |
| 2 | 14482 | m.14482C\>A | C14482A\-F2 | C14482A\-F2\-P1 | Uninf | M | Y | Y | ND | 29\_onset | / | / | / | / | Typical LHON; bilateral optic atrophy; central scotomas; VA\_RA\_0\.05; VA\_LA\_0\.08; ppma\_yes; recovery\_after\_18\_months; affected\_maternal\_line\_no | Original label patient 10 |
| 3 | 14482 | m.14482C\>A | C14482A\-F3 | C14482A\-F3\-P1 | Fam | ND | Y | Y | ND | ND | Heteroplasmic; load NR | / | / | / | LHON |  |
| 4 | 14482 | m.14482C\>A | C14482A\-F4 | C14482A\-F4\-P1 | Fam | ND | Y | Y | ND | ND | Heteroplasmic; load NR | / | / | / | LHON |  |
| 5 | 14482 | m.14482C\>A | C14482A\-F5 | C14482A\-F5\-I1 | Fam | F | N | N | A | ND | 55% | / | / | / | Healthy | Original label I\-1 |
| 6 | 14482 | m.14482C\>A | C14482A\-F5 | C14482A\-F5\-II1 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | Original label II\-1 |
| 7 | 14482 | m.14482C\>A | C14482A\-F5 | C14482A\-F5\-II2 | Fam | M | N | Y | A | 28 | Homo | / | / | / | LHON; sudden visual loss at age 10; brisk reflexes | Original label II\-2 |
| 8 | 14482 | m.14482C\>A | C14482A\-F5 | C14482A\-F5\-III1 | Fam | M | Y | Y | A | 13 | Homo | / | / | / | LHON; rapid bilateral visual loss; visual recovery; brisk reflexes | Original label III\-1 |

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