C3254A

# **General Information**

| **Position** | **3254** | **Variant** | **m.3254C\>A** | **Locus** | **MT\-TL1** | **RNA** | **tRNA Leu (UUR)** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | 60\.80% | **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.3254C\>A** variant in MT\-TL1 has been reported in 3 pedigrees. To date, 3 carriers have been reported. Mutation\-load data were not available. The main clinical manifestations among affected carriers included diabetes mellitus and gestational diabetes mellitus.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3254 | m.3254C\>A | C3254A\-F1 | Singapore | Gestational diabetes mellitus | ND | ND | 2000 | [10704697](https://pubmed.ncbi.nlm.nih.gov/10704697/) |  |
| 2 | 3254 | m.3254C\>A | C3254A\-F2 | Nigeria | Diabetes mellitus | ND | ND | 2011 | Ameh J, Godwin I, Obi I, Puepet F, Aminu B, Suleiman T. The search for mitochondrial tRNALeu (UUR) A3243G mutation among type 2 diabetes mellitus patients in the Nigerian population. African Journal of Biotechnology. 2011;10(62\):13383\-9\. |  |
| 3 | 3254 | m.3254C\>A | C3254A\-F3 | Nigeria | Diabetes mellitus | ND | ND | 2011 | Ameh J, Godwin I, Obi I, Puepet F, Aminu B, Suleiman T. The search for mitochondrial tRNALeu (UUR) A3243G mutation among type 2 diabetes mellitus patients in the Nigerian population. African Journal of Biotechnology. 2011;10(62\):13383\-9\. |  |

# **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 | 3254 | m.3254C\>A | C3254A\-F1 | C3254A\-F1\-P1 | Uninf | ND | Y | Y | A | ND | / | / | / | / | Gestational diabetes mellitus |  |
| 2 | 3254 | m.3254C\>A | C3254A\-F2 | C3254A\-F2\-P1 | Uninf | ND | Y | Y | A | ND | / | / | / | / | Diabetes mellitus |  |
| 3 | 3254 | m.3254C\>A | C3254A\-F3 | C3254A\-F3\-P1 | Uninf | ND | Y | Y | A | ND | / | / | / | / | Diabetes mellitus |  |

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