A3243G-F40

**Figure 1\. Pedigree diagram for family A3243G\-F40\.**

![](/media/202607/A3243G-F40-pedigree_20260701031007445557.png#size=100%&align=left)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3243 | m.3243A\>G | A3243G\-F40 | Japan | MELAS | 2 | 0 | 1992 | [1434521](https://pubmed.ncbi.nlm.nih.gov/1434521/) | Case 2 pedigree/gel: proband 62%, mother 8\.5%, asymptomatic brother 28%. |

The **m.3243A\>G** variant in the mitochondrial locus was reported in family A3243G\-F40 from Japan 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 | 3243 | m.3243A\>G | A3243G\-F40 | A3243G\-F40\-P1 | Fam | F | Y | Y | ND | ND | 62% | / | / | / | MELAS | Case 2 patient/proband; lymphocyte mutant mtDNA 62%. |
| 2 | 3243 | m.3243A\>G | A3243G\-F40 | A3243G\-F40\-P2 | Fam | F | N | N | ND | ND | 8\.5% | / | / | / | Healthy | Case 2 mother; lymphocyte mutant mtDNA 8\.5%; Healthy |
| 3 | 3243 | m.3243A\>G | A3243G\-F40 | A3243G\-F40\-P3 | Fam | M | N | N | ND | ND | 28% | / | / | / | Healthy | Case 2 asymptomatic brother; lymphocyte mutant mtDNA 28%; Healthy |

For abbreviations and other usage instructions, please see [Mitofam Info](https://mitofam.com/doc/385/).