G3244A

# **General Information**

| **Position** | **3244** | **Variant** | **m.3244G\>A** | **Locus** | **MT\-TL1** | **RNA** | **tRNA Leu (UUR)** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | 41\.60% | **Pathogenicity** | Reported |

"Pathogenicity" status is derived from published literature or predictions from bioinformatics tools. Researchers and clinicians are cautioned that additional data and/or analysis may still be necessary to confirm the pathological significance of these variants. For more information, please see [Mitofam Info](https://mitofam.com/doc/385/).

# **Pedigree Information**

The **m.3244G\>A** variant in MT\-TL1 has been reported in 1 pedigree. To date, 1 carrier has been reported. Reported mutation loads ranged from 90% to 94%, with a median of 92% overall; affected carriers showed mutation loads from 90% to 94%, with a median of 92%. The main clinical manifestations among affected carriers included vomiting, abnormal cerebral white matter signals, basal ganglia calcifications, clonic convulsions, diffuse cerebral atrophy, limb atrophy, loss of consciousness, patchy cerebral cortex signals, and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3244 | m.3244G\>A | G3244A\-F1 | Japan | Vomiting, loss of consciousness, clonic convulsions, recurrent seizures, psychomotor deterioration, limb atrophy, reduced muscle tone and power, basal ganglia calcifications, diffuse cerebral atrophy, abnormal cerebral white matter signals, patchy cerebral cortex signals | ND | ND | 2009 | [19460299](https://pubmed.ncbi.nlm.nih.gov/19460299/) |  |

# **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 | 3244 | m.3244G\>A | G3244A\-F1 | G3244A\-F1\-P1 | Uninf | F | Y | Y | A | 4 | / | 94% | / | 90% (F) | Vomiting, loss of consciousness, clonic convulsions, recurrent seizures, psychomotor deterioration, limb atrophy, reduced muscle tone and power, basal ganglia calcifications, diffuse cerebral atrophy, abnormal cerebral white matter signals, patchy cerebral cortex signals |  |

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