T3253C

# **General Information**

| **Position** | **3253** | **Variant** | **m.3253T\>C** | **Locus** | **MT\-TL1** | **RNA** | **tRNA Leu (UUR)** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **mitoTIP** | 0\.40% | **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.3253T\>C** variant in MT\-TL1 has been reported in 1 pedigree. To date, 5 carriers have been reported. Homoplasmy was reported in 4/5 carriers (80%), and 4/5 carriers (80%) were affected. The main clinical manifestations among affected carriers included hypertension.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3253 | m.3253T\>C | [T3253C\-F1](https://mitofam.com/doc/2297/) | China | Hypertension | 1 | 3 | 2017 | [28679533](https://pubmed.ncbi.nlm.nih.gov/28679533/) |  |

# **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 | 3253 | m.3253T\>C | T3253C\-F1 | T3253C\-F1\-I2 | Uninf | F | N | N | D | ND | / | / | / | / | Healthy |  |
| 2 | 3253 | m.3253T\>C | T3253C\-F1 | T3253C\-F1\-II1 | Fam | M | Y | Y | A | 53 | Homo | / | / | / | Hypertension |  |
| 3 | 3253 | m.3253T\>C | T3253C\-F1 | T3253C\-F1\-II4 | Fam | F | N | Y | A | 35 | Homo | / | / | / | Hypertension |  |
| 4 | 3253 | m.3253T\>C | T3253C\-F1 | T3253C\-F1\-II5 | Fam | M | N | Y | A | 43 | Homo | / | / | / | Hypertension |  |
| 5 | 3253 | m.3253T\>C | T3253C\-F1 | T3253C\-F1\-III3 | Fam | M | N | Y | A | 28 | Homo | / | / | / | Hypertension |  |

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