T3308C

# **General Information**

| **Position** | **3308** | **Variant** | **m.3308T\>C** | **Locus** | **MT\-ND1** | **Amino\-AcidChange** | **M1T** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **APOGEE2** | VUS\- | **Pathogenicity** | Reported \- possibly synergistic; hg L1b and A2i marker |

"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.3308T\>C** variant in MT\-ND1 has been reported in 2 pedigrees. To date, 4 carriers have been reported. Homoplasmy was reported in 2/4 carriers (50%), and 3/4 carriers (75%) were affected. The main clinical manifestations among affected carriers included diabetes, MELAS, MIDD, and dumbness and deafness.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3308 | m.3308T\>C | T3308C\-F1 | Tunisia | MIDD | 0 | 1 | 2013 | [23357420](https://pubmed.ncbi.nlm.nih.gov/23357420/) | carrying A1555G(100%) |
| 2 | 3308 | m.3308T\>C | T3308C\-F2 | Spain | MELAS | 1 | 0 | 1997 | [9299504](https://pubmed.ncbi.nlm.nih.gov/9299504/) |  |

# **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 | 3308 | m.3308T\>C | T3308C\-F1 | T3308C\-F1\-II1 | Uninf | M | Y | Y | A | 40 | Homo | Homo | / | / | MIDD | carrying A1555G(100%) |
| 2 | 3308 | m.3308T\>C | T3308C\-F1 | T3308C\-F1\-II2 | Uninf | F | N | Y | A | 40 | Homo | Homo | / | / | Diabetes, dumbness and deafness | carrying A1555G(100%) |
| 3 | 3308 | m.3308T\>C | T3308C\-F2 | T3308C\-F2\-I2 | Uninf | F | N | N | A | ND | 80% | / | / | / | healthy |  |
| 4 | 3308 | m.3308T\>C | T3308C\-F2 | T3308C\-F2\-II1 | Fam | F | Y | Y | A | 22 | 80% | 85% | / | / | MELAS |  |

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