C6489A

# **General Information**

| **Position** | **6489** | **Variant** | **m.6489C\>A** | **Locus** | **MT\-CO1** | **Amino\-AcidChange** | **L196I** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **APOGEE2** | VUS\- | **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.6489C\>A** variant in MT\-CO1 has been reported in 1 pedigree. To date, 3 carriers have been reported. Reported mutation loads ranged from 28% to 90%, with a median of 87\.5% overall; affected carriers showed mutation loads from 28% to 86%, with a median of 57%; unaffected carriers showed mutation loads from 89% to 90%, with a median of 89\.5%. In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in muscle (86%) than in blood (28%). The main clinical manifestations among affected carriers included epilepsia partialis continua, developmental delay, respiratory failure, seizures, and valproate\-induced hepatic failure.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 6489 | m.6489C\>A |[ C6489A\-F1](https://mitofam.com/doc/896/) | German | Epilepsia partialis continua | 2 | 0 | 2002 | [12140182](https://pubmed.ncbi.nlm.nih.gov/12140182/) |  |

# **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 | 6489 | m.6489C\>A | C6489A\-F1 | C6489A\-F1\-II1 | Fam | F | Y | Y | D | 17 | 28% | 86% | / | / | Epilepsia partialis continua; developmental delay; seizures; valproate\-induced hepatic failure; respiratory failure |  |
| 2 | 6489 | m.6489C\>A | C6489A\-F1 | C6489A\-F1\-I1 | Uninf | F | N | N | A | ND | 89% | / | / | / | Healthy |  |
| 3 | 6489 | m.6489C\>A | C6489A\-F1 | C6489A\-F1\-II2 | Fam | M | N | N | A | ND | 90% | / | / | / | Healthy |  |

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