A4279G

# **General Information**

| **Position** | **4279** | **Variant** | **m.4279A\>G** | **Locus** | **MT\-TI** | **RNA** | **tRNA Ile** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | 54\.90% | **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.4279A\>G** variant in MT\-TI has been reported in 1 pedigree. To date, 1 carrier has been reported. Reported mutation loads ranged from 15% to 70%, with a median of 42\.5% overall; affected carriers showed mutation loads from 15% to 70%, with a median of 42\.5%. In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in muscle (70%) than in blood (15%). The main clinical manifestations among affected carriers included progressive myoclonic epilepsies and hearing loss.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 4279 | m.4279A\>G | A4279G\-F1 | Germany | Progressive myoclonic epilepsies, hearing loss | NA | NA | 2013 | [23601850](https://pubmed.ncbi.nlm.nih.gov/23601850/) |  |

# **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 | 4279 | m.4279A\>G | A4279G\-F1 | A4279G\-F1\-P1 | Uninf | M | Y | Y | A | 40 | 15% | 70% | / | / | Progressive myoclonic epilepsies, hearing loss |  |

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