A4300G-F3

**Figure 1\. Pedigree diagram for family A4300G\-F3\.**

![](/media/202607/A4300G-F3-pedigree_20260701023119873550.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 | 4300 | m.4300A\>G | A4300G\-F3 | Italy | Hypertrophic cardiomyopathy | 10 | 0 | 1998 | [10065021](https://pubmed.ncbi.nlm.nih.gov/10065021/) | Carrying Arg249Gln(MHC) |

The **m.4300A\>G** variant in MT\-TI was reported in family A4300G\-F3 from Italy with hypertrophic cardiomyopathy. The pedigree record reported 10 unaffected and 0 affected maternal relatives, and the carrier table includes 11 listed carriers. Homoplasmy was reported in 0/11 listed carriers; 1/11 carriers were affected, and the main clinical manifestation among affected carriers was hypertrophic cardiomyopathy, left ventricular hypertrophy, cardiac transplantation.

# 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 | 4300 | m.4300A\>G | A4300G\-F3 | A4300G\-F3\-I2 | Uninf | F | N | N | D | 57 | / | / | / | / | Healthy | Carrying Arg249Gln(MHC) |
| 2 | 4300 | m.4300A\>G | A4300G\-F3 | A4300G\-F3\-II2 | Fam | F | N | N | D | 54 | 75% | / | / | / | Healthy | Carrying Arg249Gln(MHC) |
| 3 | 4300 | m.4300A\>G | A4300G\-F3 | A4300G\-F3\-II3 | Fam | F | N | N | A | 51 | 70% | / | / | / | Mild mitral valve prolapse | Carrying Arg249Gln(MHC) |
| 4 | 4300 | m.4300A\>G | A4300G\-F3 | A4300G\-F3\-II5 | Fam | F | N | N | A | 58 | 68% | / | / | / | Healthy | Carrying Arg249Gln(MHC) |
| 5 | 4300 | m.4300A\>G | A4300G\-F3 | A4300G\-F3\-II7 | Fam | F | N | N | A | 42 | 73% | / | / | / | Healthy | Carrying Arg249Gln(MHC) |
| 6 | 4300 | m.4300A\>G | A4300G\-F3 | A4300G\-F3\-III1 | Fam | M | Y | Y | A | 31 | 76% | 85% | / | 95%(heart) | Hypertrophic cardiomyopathy,left ventricular hypertrophy,cardiac transplantation | Carrying Arg249Gln(MHC) |
| 7 | 4300 | m.4300A\>G | A4300G\-F3 | A4300G\-F3\-III2 | Fam | F | N | N | A | 21 | 82% | / | / | / | Healthy | Carrying Arg249Gln(MHC) |
| 8 | 4300 | m.4300A\>G | A4300G\-F3 | A4300G\-F3\-III3 | Fam | F | N | N | A | 30 | 72% | / | / | / | Healthy | Carrying Arg249Gln(MHC) |
| 9 | 4300 | m.4300A\>G | A4300G\-F3 | A4300G\-F3\-III4 | Fam | M | N | N | A | 31 | 80% | / | / | / | Healthy | Carrying Arg249Gln(MHC) |
| 10 | 4300 | m.4300A\>G | A4300G\-F3 | A4300G\-F3\-III5 | Fam | M | N | N | A | 16 | 78% | / | / | / | Healthy | Carrying Arg249Gln(MHC) |
| 11 | 4300 | m.4300A\>G | A4300G\-F3 | A4300G\-F3\-III6 | Fam | M | N | N | A | 48 | 7% | / | / | / | Healthy | Carrying Arg249Gln(MHC) |

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