C3275T

# **General Information**

| **Position** | **3275** | **Variant** | **m.3275C\>T** | **Locus** | **MT\-TL1** | **RNA** | **tRNA Leu (UUR)** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **mitoTIP** | 2\.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.3275C\>T** variant in MT\-TL1 has been reported in 3 pedigrees. To date, 9 carriers have been reported. Homoplasmy was reported in 7/9 carriers (77\.8%), and 7/9 carriers (77\.8%) were affected. The main clinical manifestations among affected carriers included metabolic syndrome, LHON, PCOS, diabetes mellitus, and hypertension.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3275 | m.3275C\>T | [C3275T\-F1](https://mitofam.com/doc/2261/) | China | PCOS, metabolic syndrome | 2 | 4 | 2018 | [29155328](https://pubmed.ncbi.nlm.nih.gov/29155328/) | Carrying T4363C and A8343G |
| 2 | 3275 | m.3275C\>T | C3275T\-F2 | China | LHON | ND | ND | 2022 | [34053002](https://pubmed.ncbi.nlm.nih.gov/34053002/) | Carrying T3394C |
| 3 | 3275 | m.3275C\>T | C3275T\-F3 | China | LHON | ND | ND | 2022 | [34053002](https://pubmed.ncbi.nlm.nih.gov/34053002/) |  |

# **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 | 3275 | m.3275C\>T | C3275T\-F1 | C3275T\-F1\-I2 | Uninf | F | N | Y | D | ND | Homo | / | / | / | PCOS, metabolic syndrome | Carrying T4363C and A8343G |
| 2 | 3275 | m.3275C\>T | C3275T\-F1 | C3275T\-F1\-II1 | Fam | M | N | Y | A | 66 | Homo | / | / | / | Metabolic syndrome, diabetes mellitus | Carrying T4363C and A8343G |
| 3 | 3275 | m.3275C\>T | C3275T\-F1 | C3275T\-F1\-II3 | Fam | M | N | Y | A | 59 | Homo | / | / | / | Metabolic syndrome, hypertension | Carrying T4363C and A8343G |
| 4 | 3275 | m.3275C\>T | C3275T\-F1 | C3275T\-F1\-II6 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | Carrying T4363C and A8343G |
| 5 | 3275 | m.3275C\>T | C3275T\-F1 | C3275T\-F1\-II8 | Fam | F | N | Y | A | 55 | Homo | / | / | / | Metabolic syndrome, diabetes mellitus | Carrying T4363C and A8343G |
| 6 | 3275 | m.3275C\>T | C3275T\-F1 | C3275T\-F1\-III3 | Fam | M | N | N | A | ND | Homo | / | / | / | Healthy | Carrying T4363C and A8343G |
| 7 | 3275 | m.3275C\>T | C3275T\-F1 | C3275T\-F1\-III4 | Fam | F | Y | Y | A | 31 | Homo | / | / | / | PCOS | Carrying T4363C and A8343G |
| 8 | 3275 | m.3275C\>T | C3275T\-F2 | C3275T\-F2\-P1 | Uninf | F | Y | Y | A | 9 | / | / | / | / | LHON | Carrying T3394C |
| 9 | 3275 | m.3275C\>T | C3275T\-F3 | C3275T\-F3\-P1 | Uninf | M | Y | Y | A | 8 | / | / | / | / | LHON |  |

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