G7598A

# **General Information**

| **Position** | **7598** | **Variant** | **m.7598G\>A** | **Locus** | **MT\-CO2** | **Amino\-AcidChange** | **A5T** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **APOGEE2** | Benign | **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.7598G\>A** variant in MT\-CO2 has been reported in 1 pedigree. To date, 3 carriers have been reported. Reported mutation loads ranged from 25% to 80%, with a median of 52\.5% overall; affected carriers showed mutation loads from 80%, with a median of 80%; unaffected carriers showed mutation loads from 25%, with a median of 25%. The main clinical manifestations among affected carriers included lHON with bilateral optic neuropathy and severe visual loss, severe migraine headaches, and otherwise appeared healthy.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 7598 | m.7598G\>A |[ G7598A\-F1](https://mitofam.com/doc/1643/) | Caucasian origin | LHON; optic neuropathy; neurologic symptoms in maternal lineage | 3 | 3 | 2006 | [16418878](https://pubmed.ncbi.nlm.nih.gov/16418878/) |  |

# **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 | 7598 | m.7598G\>A | G7598A\-F1 | G7598A\-F1\-IV2 | Fam | M | Y | Y | A | 26 | 80% | / | / | / | LHON with bilateral optic neuropathy and severe visual loss |  |
| 2 | 7598 | m.7598G\>A | G7598A\-F1 | G7598A\-F1\-III1 | Fam | F | N | N | A | ND | 25% | / | / | / | No pathological eye or neurological signs; mild hyperopia |  |
| 3 | 7598 | m.7598G\>A | G7598A\-F1 | G7598A\-F1\-IV1 | Fam | F | N | Y | A | ND | / | / | / | / | Severe migraine headaches; otherwise appeared healthy |  |

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