T4289C

# **General Information**

| **Position** | **4289** | **Variant** | **m.4289T\>C** | **Locus** | **MT\-TI** | **RNA** | **tRNA Ile** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | 84\.30% | **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.4289T\>C** variant in MT\-TI has been reported in 1 pedigree. To date, 3 carriers have been reported. Reported mutation loads ranged from 0% to 39%, with a median of 0% overall; affected carriers showed mutation loads from 7% to 39%, with a median of 7%; unaffected carriers showed mutation loads from 0%, with a median of 0%. In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in muscle (39%) than in blood (7%) and urine (7%). The main clinical manifestations among affected carriers included retinopathy, cerebral atrophy, diabetes, and dysphagia.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 4289 | m.4289T\>C | [T4289C\-F1](https://mitofam.com/doc/644/) | UK | Retinopathy, diabetes, dysphagia, cerebral atrophy | 2 | 0 | 2013 | [23696415](https://pubmed.ncbi.nlm.nih.gov/23696415/) |  |

# **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 | 4289 | m.4289T\>C | T4289C\-F1 | T4289C\-F1\-I2 | Uninf | F | N | N | A | ND | 0 | / | 0 | 0%(BM) | Healthy |  |
| 2 | 4289 | m.4289T\>C | T4289C\-F1 | T4289C\-F1\-II1 | Fam | F | N | N | A | ND | 0 | / | 0 | 0%(BM) | Healthy |  |
| 3 | 4289 | m.4289T\>C | T4289C\-F1 | T4289C\-F1\-II2 | Fam | F | Y | Y | A | 11 | 7% | 39% | 7% | / | Retinopathy, diabetes, dysphagia, cerebral atrophy |  |

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