T582C

# **General Information**

| **Position** | **582** | **Variant** | **m.582T\>C** | **Locus** | **MT\-TF** | **RNA** | **tRNA Phe** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | 72\.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.582T\>C** variant in MT\-TF has been reported in 1 pedigree. To date, 1 carrier has been reported. Reported mutation loads ranged from 0% to 70%, with a median of 0% overall; affected carriers showed mutation loads from 0% to 70%, with a median of 0%. In one affected carrier, the mutation was undetectable in blood (0%) and hair shafts (0%) but exceeded 20% in muscle (70%). The main clinical manifestations among affected carriers included and impaired vertical and horizontal eye movements and bilateral ptosis.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 582 | m.582T\>C | T582C\-F1 | Sweden | Mitochondrial myopathy and encephalopathy | 0 | 0 | [14659412](https://pubmed.ncbi.nlm.nih.gov/14659412/) | 2004 |  |

# **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 | 582 | m.582T\>C | T582C\-F1 | T582C\-F1\-P1 | De novo | F | Y | Y | A | 70 | 0 | 70% | ND | 0% (Hair shafts) | bilateral ptosis, and impaired vertical and horizontal eye movements |  |

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