C3287A

# **General Information**

| **Position** | **3287** | **Variant** | **m.3287C\>A** | **Locus** | **MT\-TL1** | **RNA** | **tRNA Leu (UUR)** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | 38\.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.3287C\>A** variant in MT\-TL1 has been reported in 1 pedigree. To date, 1 carrier has been reported. Reported mutation loads ranged from 6% to 50%, with a median of 15\.5% overall; affected carriers showed mutation loads from 6% to 50%, with a median of 15\.5%. In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in muscle (50%) and bone marrow (23%) than in fibroblasts (6%). The main clinical manifestations among affected carriers included encephalomyopathy and moderate retinal dysfunction.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3287 | m.3287C\>A | C3287A\-F1 | USA | Encephalomyopathy, moderate retinal dysfunction | ND | ND | 2005 | [15670724](https://pubmed.ncbi.nlm.nih.gov/15670724/) |  |

# **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 | 3287 | m.3287C\>A | C3287A\-F1 | C3287A\-F1\-P1 | Uninf | F | Y | Y | A | 26 | 8% | 50% | / | 6% (F), 23%(BM) | Encephalomyopathy, moderate retinal dysfunction |  |

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