A1630G-F3

**Figure 1\. Pedigree diagram for family A1630G\-F3\.**

![](/media/202606/20260625174013389453.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 | 1630 | m.1630A\>G | A1630G\-F3 | USA | MELAS | 1 | 0 | 2019 | [30709774](https://pubmed.ncbi.nlm.nih.gov/30709774/) |  |

The **m.1630A\>G** variant in MT\-TV was reported in family A1630G\-F3 from USA with melas. The pedigree record reported 1 unaffected and 0 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 0/2 listed carriers; 1/2 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 | 1630 | m.1630A\>G | A1630G\-F3 | A1630G\-F3\-II1 | Fam | F | Y | Y | A | 24 | 75% | / | 95% | 89\.63%(F) | MELAS |  |
| 2 | 1630 | m.1630A\>G | A1630G\-F3 | A1630G\-F3\-I2 | Fam | F | N | N | A | 55 | 93% | / | 98% | 94\.78%(F) | Healthy |  |

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