T616G-F1

**Figure 1\. Pedigree diagram for family T616G\-F1\.**

![](/media/202607/20260721175502889432.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 616 | m.616T\>G | T616G\-F1 | Germany | Epilepsy | 2 | 1 | 2010 | [20142618](https://pubmed.ncbi.nlm.nih.gov/20142618/) |  |

The **m.616T\>G** variant in MT\-TF was reported in family T616G\-F1 from Germany with epilepsy. The pedigree record reported 2 unaffected and 1 affected maternal relatives, and the carrier table includes 4 listed carriers. Homoplasmy was reported in 1/4 listed carriers; 3/4 carriers were affected, and the main clinical manifestation among affected carriers was tonic\-clonic seizures.

# 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 | 616 | m.616T\>G | T616G\-F1 | T616G\-F1\-I2 | Uninf | F | N | Y | A | / | Hemo | Hemo | ND | ND | Tonic\-clonic seizures |  |
| 2 | 616 | m.616T\>G | T616G\-F1 | T616G\-F1\-I3 | Uninf | F | N | Y | D | 16 | ND | ND | ND | ND | Tonic\-clonic seizures |  |
| 3 | 616 | m.616T\>G | T616G\-F1 | T616G\-F1\-II1 | Fam | M | Y | Y | D | 17 | Homo | Heteroplasmic (high) | ND | ND | Tonic\-clonic seizures |  |
| 4 | 616 | m.616T\>G | T616G\-F1 | T616G\-F1\-II2 | Fam | F | N | N | A | / | ND | ND | ND | ND | / |  |

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