A3260G-F5

**Figure 1\. Pedigree diagram for family A3260G\-F5\.**

![](/media/202606/20260630203519321587.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3260 | m.3260A\>G | A3260G\-F5 | China | MELAS | 2 | 0 | 2014 | [24656211](https://pubmed.ncbi.nlm.nih.gov/24656211/) |  |

The **m.3260A\>G** variant in MT\-TL1 was reported in family A3260G\-F5 from China with melas. The pedigree record reported 2 unaffected and 0 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in 0/3 listed carriers; 1/3 carriers were affected, and the main clinical manifestation among affected carriers was melas.

# 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 | 3260 | m.3260A\>G | A3260G\-F5 | A3260G\-F5\-I2 | Uninf | F | N | N | A | ND | 5% | / | / | / | Healthy |  |
| 2 | 3260 | m.3260A\>G | A3260G\-F5 | A3260G\-F5\-II1 | Fam | F | Y | Y | A | ND | / | 85% | / | / | MELAS |  |
| 3 | 3260 | m.3260A\>G | A3260G\-F5 | A3260G\-F5\-II2 | Fam | F | N | N | A | ND | / | 38% | / | / | Healthy |  |

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