A7484G

# **General Information**

| **Position** | **7484** | **Variant** | **m.7484A\>G** | **Locus** | **MT\-TS1** | **RNA** | **tRNA Ser (UCN)** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **mitoTIP** | 53\.20% | **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.7484A\>G** variant in MT\-TS1 has been reported in 1 pedigree. To date, 2 carriers have been reported. Homoplasmy was reported in 2/2 carriers (100%), and 2/2 carriers (100%) were affected. The main clinical manifestations among affected carriers included MELAS and MERRF.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 7484 | m.7484A\>G | [A7484G\-F1](https://mitofam.com/doc/743/) | Italy | Encephalomyopathy | 0 | 1 | 2023 | [36836911](https://pubmed.ncbi.nlm.nih.gov/36836911/) |  |

# **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 | 7484 | m.7484A\>G | A7484G\-F1 | A7484G\-F1\-I2 | Uninf | F | N | Y | A | 34 | / | Homo | / | / | MERRF |  |
| 2 | 7484 | m.7484A\>G | A7484G\-F1 | A7484G\-F1\-II1 | Fam | F | Y | Y | D | 7 | / | Homo | / | / | MELAS |  |

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