G4282A

# **General Information**

| **Position** | **4282** | **Variant** | **m.4282G\>A** | **Locus** | **MT\-TI** | **RNA** | **tRNA Ile** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | 82\.30% | **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.4282G\>A** variant in MT\-TI has been reported in 1 pedigree. To date, 1 carrier has been reported. Reported mutation loads ranged from 0% to 38%, with a median of 0% overall; affected carriers showed mutation loads from 0% to 38%, with a median of 0%. In one affected carrier, the mutation was undetectable in blood (0%) and bone marrow (0%) but exceeded 20% in muscle (38%). The main clinical manifestations among affected carriers included bilateral ptosis, exhaustibility, facies myopathica, myopathic pattern, orbicularis oris muscle weakness, painful exhaustibility, prominent gaze paresis, symmetrical proximal weakness, and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 4282 | m.4282G\>A | G4282A\-F1 | Switzerland | CPEO plus | 0 | 0 | 2014 | [25034047](https://pubmed.ncbi.nlm.nih.gov/25034047/) |  |

# **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 | 4282 | m.4282G\>A | G4282A\-F1 | G4282A\-F1\-P1 | De novo | F | Y | Y | A | 33 | 0 | 38% | / | 0%(BM) | Bilateral ptosis, prominent gaze paresis,facies myopathica, weakness of eye closing,symmetrical proximal weakness, exhaustibility,painful exhaustibility,orbicularis oris muscle weakness,myopathic pattern |  |

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