T4414C

# General Information

| **Position** | **4414** | **Variant** | **m.4414T\>C** | **Locus** | **MT\-TM** | **RNA** | **tRNA Met** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | 86\.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.4414T\>C** variant in MT\-TM has been reported in 1 pedigree. To date, 5 carriers have been reported. Reported mutation loads ranged from 0% to 30%, with a median of 0% overall; affected carriers showed mutation loads from 0% to 30%, with a median of 0%; unaffected carriers showed mutation loads from 0%, with a median of 0%. In one affected carrier, the mutation was undetectable in blood (0%), urine (0%), buccal (0%), and hair (0%) but exceeded 20% in muscle (30%). The main clinical manifestations among affected carriers included CPEO, bilateral ptosis and diplopia, and myopathy.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 4414 | m.4414T\>C |[ T4414C\-F1](https://mitofam.com/doc/670/) | Dutch | CPEO,Myopathy | 2 | 0 | 2019 | [31488384](https://pubmed.ncbi.nlm.nih.gov/31488384/) |  |

# 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 | 4414 | m.4414T\>C | T4414C\-F1 | T4414C\-F1\-I4 | Uninf | F | N | N | D | ND | / | / | / | / | Healthy |  |
| 2 | 4414 | m.4414T\>C | T4414C\-F1 | T4414C\-F1\-II1 | Uninf | M | N | N | ND | ND | 0 | / | 0 | 0% (Buccal) | Healthy |  |
| 3 | 4414 | m.4414T\>C | T4414C\-F1 | T4414C\-F1\-II2 | De novo | F | Y | Y | A | 66 | 0 | 30% | 0 | 0% (Buccal); 0% (H) | CPEO, myopathy, bilateral ptosis and diplopia |  |
| 4 | 4414 | m.4414T\>C | T4414C\-F1 | T4414C\-F1\-III1 | Uninf | F | N | N | ND | ND | / | / | / | / | Healthy |  |
| 5 | 4414 | m.4414T\>C | T4414C\-F1 | T4414C\-F1\-III2 | Uninf | F | N | N | ND | ND | / | / | / | / | Healthy |  |

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