A1640G-F1

**Figure 1\. Pedigree diagram for family A1640G\-F1\.**

![](/media/202606/20260625174128488530.png)

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# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 1640 | m.1640A\>G | A1640G\-F1 | Tunisia | MELAS, diabetes | 2 | 2 | 2011 | [21447323](https://pubmed.ncbi.nlm.nih.gov/21447323/) |  |

The **m.1640A\>G** variant in MT\-TV was reported in family A1640G\-F1 from Tunisia with melas, diabetes. The pedigree record reported 2 unaffected and 2 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in all listed carriers; 3/3 carriers were affected, and the main clinical manifestation among affected carriers was melas, diabetes mellitus, sensorineural hearing loss.

# 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 | 1640 | m.1640A\>G | A1640G\-F1 | A1640G\-F1\-II1 | Fam | F | Y | Y | A | ND | Homo | / | / | / | MELAS |  |
| 2 | 1640 | m.1640A\>G | A1640G\-F1 | A1640G\-F1\-I2 | Uninf | F | N | Y | A | ND | Homo | / | / | / | Diabetes mellitus |  |
| 3 | 1640 | m.1640A\>G | A1640G\-F1 | A1640G\-F1\-II2 | Fam | F | N | Y | A | ND | Homo | / | / | / | Sensorineural hearing loss |  |

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