A4395G

# **General Information**

| **Position** | **4395** | **Variant** | **m.4395A\>G** | **Locus** | **MT\-TQ** | **RNA** | **tRNA Gln** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **mitoTIP** | 0\.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.4395A\>G** variant in MT\-TQ has been reported in 1 pedigree. To date, 1 carrier has been reported. Mutation\-load data were not available. The main clinical manifestations among affected carriers included leigh syndrome.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 4395 | m.4395A\>G | A4395G\-F1 | China | Leigh syndrome | 0 | 0 | 2013 | [23953430](https://pubmed.ncbi.nlm.nih.gov/23953430/) | Carrying 8108A \> G; 14502T \> C |

# **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 | 4395 | m.4395A\>G | A4395G\-F1 | A4395G\-F1\-P1 | Uninf | M | Y | Y | A | 22 mo | / | / | / | / | Leigh syndrome | Carrying 8108A \> G; 14502T \> C |

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