T6459C

# General Information

| **Position** | **6459** | **Variant** | **m.6459T\>C** | **Locus** | **MT\-CO1** | **Amino\-AcidChange** | **W186R** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **APOGEE2** | Likely\-pathogenic | **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.6459T\>C** variant in MT\-CO1 has been reported in 1 pedigree. To date, 4 carriers have been reported. Homoplasmy was reported in 4/4 carriers (100%), and 4/4 carriers (100%) were affected. The main clinical manifestations among affected carriers included sepsis, coagulation disorders, liver failure, mediastinal infection, oral and maxillofacial infections, and pneumonia.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 6459 | m.6459T\>C | [T6459C\-F1](https://mitofam.com/doc/916/) | Chinese | Sepsis | 0 | 3 | 2018 | [30207067](https://pubmed.ncbi.nlm.nih.gov/30207067/) |  |

# 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 | 6459 | m.6459T\>C | T6459C\-F1 | T6459C\-F1\-I1 | Uninf | F | N | Y | D | ND | Homo | / | / | / | Sepsis |  |
| 2 | 6459 | m.6459T\>C | T6459C\-F1 | T6459C\-F1\-II1 | Fam | M | N | Y | D | ND | Homo | / | / | / | Sepsis |  |
| 3 | 6459 | m.6459T\>C | T6459C\-F1 | T6459C\-F1\-II2 | Fam | M | Y | Y | A | 49 | Homo | / | / | / | Sepsis; oral and maxillofacial infections; pneumonia; mediastinal infection; liver failure; coagulation disorders |  |
| 4 | 6459 | m.6459T\>C | T6459C\-F1 | T6459C\-F1\-II4 | Fam | M | N | Y | D | ND | Homo | / | / | / | Sepsis |  |

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