A3243G-F532

**Figure 1\. Pedigree diagram for family A3243G\-F532\.**

![](/media/202607/A3243G-F532-pedigree_20260701031554377768.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\-F532 | Australia | MELAS; complex I deficiency | 0 | 0 | 2011 | [21364701](https://pubmed.ncbi.nlm.nih.gov/21364701/) | MELAS proband with about 60% muscle mutant load; mother has about 5% in blood but clinical status is not provided. |

The **m.3243A\>G** variant in the mitochondrial locus was reported in family A3243G\-F532 from Australia with melas; complex i deficiency. The pedigree record reported 0 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, complex i deficiency.

# 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\-F532 | A3243G\-F532\-P1 | Fam | ND | Y | Y | ND | ND | / | 60% | / | / | MELAS; Complex I deficiency | Table 1 MTTL1 m.3243A\>G row 2\. |
| 2 | 3243 | m.3243A\>G | A3243G\-F532 | A3243G\-F532\-P2 | Fam | F | N | ND | ND | ND | 5% | / | / | / | Maternal carrier; Clinical status not provided | Mother of Table 1 m.3243A\>G row 2 proband; maternal blood mutant load about 5%. |

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