A4415G

# General Information

| **Position** | **4415** | **Variant** | **m.4415A\>G** | **Locus** | **MT\-TM** | **RNA** | **tRNA Met** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | 44\.10% | **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.4415A\>G** variant in MT\-TM has been reported in 2 pedigrees. To date, 2 carriers have been reported. Reported mutation loads ranged from 1\.5% to 99\.5%, with a median of 5% overall; affected carriers showed mutation loads from 2% to 99\.5%, with a median of 6%; unaffected carriers showed mutation loads from 1\.5%, with a median of 1\.5%. In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in muscle (99\.5%), urine (7%), and stomach (5%) than in fibroblasts (2%). The main clinical manifestations among affected carriers included exercise intolerance.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 4415 | m.4415A\>G | A4415G\-F1 | Italy | Mitochondrial,Myopathy | ND | ND | 2011 | [21532488](https://pubmed.ncbi.nlm.nih.gov/21532488/) |  |
| 2 | 4415 | m.4415A\>G | A4415G\-F2 | Italy | APS2,Mitochondrial myopathy | 2 | 0 | 2009 | [19460300](https://pubmed.ncbi.nlm.nih.gov/19460300/) |  |

# 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 | 4415 | m.4415A\>G | A4415G\-F1 | A4415G\-F1\-P1 | Uninf | F | N | N | A | 32 | / | / | 1\.5% | / | Exercise intolerance |  |
| 2 | 4415 | m.4415A\>G | A4415G\-F2 | A4415G\-F2\-P1 | Fam | F | Y | Y | A | 12 | / | 99\.5% | 7% | 5%(stomach),2%(F) | Exercise intolerance |  |

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