T616C-F3

**Figure 1\. Pedigree diagram for family T616C\-F3\.**

|  |
| --- |

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 616 | m.616T\>C | T616C\-F3 | Germany | MITKD, Encephalopathia | 1 | 0 | 2019 | [31722346](https://pubmed.ncbi.nlm.nih.gov/31722346/) |  |

The **m.616T\>C** variant in MT\-TF was reported in family T616C\-F3 from Germany with mitkd, encephalopathia. The pedigree record reported 1 unaffected and 0 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 1/2 listed carriers; 1/2 carriers were affected, and the main clinical manifestation among affected carriers was chronic renal insufficiency and epilepsia, developmental delay.

# 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\>C | T616C\-F3 | T616C\-F3\-I1 | Uninf | F | N | N | A | / | 91% | ND | 82% | buccal swab 86% | / |  |
| 2 | 616 | m.616T\>C | T616C\-F3 | T616C\-F3\-P1 | Fam | F | Y | Y | A | 5 | Homo | ND | Homo | fibroblast 100% | Chronic renal insufficiency and epilepsia, developmental delay |  |

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