T3271C-F1

**Figure 1\. Pedigree diagram for family T3271C\-F1\.**

![](/media/202606/20260630210139606289.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3271 | m.3271T\>C | T3271C\-F1 | Japan | Diabetes | 1 | 2 | 1997 | [9455930](https://pubmed.ncbi.nlm.nih.gov/9455930/) |  |

The **m.3271T\>C** variant in MT\-TL1 was reported in family T3271C\-F1 from Japan with diabetes. The pedigree record reported 1 unaffected and 2 affected maternal relatives, and the carrier table includes 4 listed carriers. Homoplasmy was reported in 0/4 listed carriers; 3/4 carriers were affected, and the main clinical manifestation among affected carriers was diabetes.

# 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 | 3271 | m.3271T\>C | T3271C\-F1 | T3271C\-F1\-I2 | Uninf | F | N | Y | A | ND | / | / | / | / | Diabetes |  |
| 2 | 3271 | m.3271T\>C | T3271C\-F1 | T3271C\-F1\-II2 | Fam | F | N | Y | A | ND | / | / | / | / | Diabetes |  |
| 3 | 3271 | m.3271T\>C | T3271C\-F1 | T3271C\-F1\-III1 | Fam | M | Y | Y | A | 39 | / | / | / | / | Diabetes |  |
| 4 | 3271 | m.3271T\>C | T3271C\-F1 | T3271C\-F1\-III2 | Fam | F | N | N | A | ND | / | / | / | / | Healthy |  |

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