G4308A

# **General Information**

| **Position** | **4308** | **Variant** | **m.4308G\>A** | **Locus** | **MT\-TI** | **RNA** | **tRNA Ile** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | Pathogenic | **Pathogenicity** | Cfrm \[VUS\*] |

"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.4308G\>A** variant in MT\-TI has been reported in 2 pedigrees. To date, 2 carriers have been reported. Reported mutation loads ranged from 0% to 47%, with a median of 22\.5% overall; affected carriers showed mutation loads from 0% to 47%, with a median of 22\.5%. In one affected carrier, the mutation was undetectable in blood (0%) but exceeded 20% in muscle (45%). In one affected carrier, the mutation was undetectable in blood (0%) but exceeded 20% in muscle (47%). The main clinical manifestations among affected carriers included CPEO.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 4308 | m.4308G\>A | G4308A\-F1 | Tunisia | CPEO | 2 | 0 | 2011 | [20884012](https://pubmed.ncbi.nlm.nih.gov/20884012/) |  |
| 2 | 4308 | m.4308G\>A | G4308A\-F2 | Switzerland | CPEO | 2 | 0 | 2011 | [21292040](https://pubmed.ncbi.nlm.nih.gov/21292040/) |  |

# **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 | 4308 | m.4308G\>A | G4308A\-F1 | G4308A\-F1\-P1 | Uninf | M | Y | Y | A | 54 | 0 | 45% | / | / | CPEO |  |
| 2 | 4308 | m.4308G\>A | G4308A\-F2 | G4308A\-F2\-P1 | De novo | F | Y | Y | A | 33 | 0 | 47% | / | / | CPEO |  |

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