T4344C

# **General Information**

| **Position** | **4344** | **Variant** | **m.4344T\>C** | **Locus** | **MT\-TQ** | **RNA** | **tRNA Gln** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | 42\.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.4344T\>C** variant in MT\-TQ has been reported in 1 pedigree. To date, 1 carrier has been reported. Reported mutation loads ranged from 89% to 95%, with a median of 92% overall; affected carriers showed mutation loads from 89% to 95%, with a median of 92%. The main clinical manifestations among affected carriers included developmental delay.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 4344 | m.4344T\>C | T4344C\-F1 | China | Developmental delay | 0 | 0 | 2024 | [38730005](https://pubmed.ncbi.nlm.nih.gov/38730005/) |  |

# **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 | 4344 | m.4344T\>C | T4344C\-F1 | T4344C\-F1\-II1 | De novo | M | Y | Y | A | 18 mo | 95% | / | / | 89% (BM) | Developmental delay |  |

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