G3481A-F1

**Figure 1\. Pedigree diagram for family G3481A\-F1\.**

![](/media/202606/20260630032613569792.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3481 | m.3481G\>A | G3481A\-F1 | Italy | Mitochondrial encephalopathy | 7 | 0 | 2007 | [17535832](https://pubmed.ncbi.nlm.nih.gov/17535832/) |  |

The **m.3481G\>A** variant in MT\-ND1 was reported in family G3481A\-F1 from Italy with mitochondrial encephalopathy. The pedigree record reported 7 unaffected and 0 affected maternal relatives, and the carrier table includes 4 listed carriers. Homoplasmy was reported in 0/4 listed carriers; 1/4 carriers were affected, and the main clinical manifestation among affected carriers was mitochondrial encephalopathy.

# 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 | 3481 | m.3481G\>A | G3481A\-F1 | G3481A\-F1\-II3 | Uninf | F | N | N | A | ND | / | / | / | / | healthy |  |
| 2 | 3481 | m.3481G\>A | G3481A\-F1 | G3481A\-F1\-II5 | Uninf | F | N | N | A | ND | / | / | / | / | healthy |  |
| 3 | 3481 | m.3481G\>A | G3481A\-F1 | G3481A\-F1\-III1 | Uninf | M | N | N | A | ND | / | / | / | / | healthy |  |
| 4 | 3481 | m.3481G\>A | G3481A\-F1 | G3481A\-F1\-III3 | Fam | M | Y | Y | A | 8 | / | 80% | 80% | 50% (F), 55% (lymph) | Mitochondrial encephalopathy |  |

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