G3283A

# **General Information**

| **Position** | **3283** | **Variant** | **m.3283G\>A** | **Locus** | **MT\-TL1** | **RNA** | **tRNA Leu (UUR)** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | 58\.70% | **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.3283G\>A** variant in MT\-TL1 has been reported in 1 pedigree. To date, 1 carrier has been reported. Reported mutation loads ranged from 0% to 30%, with a median of 15% overall; affected carriers showed mutation loads from 0% to 30%, with a median of 15%. In one affected carrier, the mutation was undetectable in blood (0%) but exceeded 20% in muscle (30%). The main clinical manifestations among affected carriers included frequent falls, bilateral ptosis, generalized hyporeflexia, and ophthalmoparesis.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3283 | m.3283G\>A | G3283A\-F1 | Spain | Late\-onset ocular myopathy | ND | ND | 2007 | [17363246](https://pubmed.ncbi.nlm.nih.gov/17363246/) |  |

# **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 | 3283 | m.3283G\>A | G3283A\-F1 | G3283A\-F1\-P1 | Uninf | F | Y | Y | A | 80 | 0 | 30% | / | / | Frequent falls, bilateral ptosis, ophthalmoparesis, generalized hyporeflexia |  |

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