A12770G

# **General Information**

| **Position** | **12770** | **Variant** | **m.12770A\>G** | **Locus** | **MT\-ND5** | **Amino\-AcidChange** | **E145G** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **APOGEE2** | Pathogenic | **Pathogenicity** | Reported \[VUS] |

"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.12770A\>G** variant in MT\-ND5 has been reported in 1 pedigree. To date, 1 carrier has been reported. Reported mutation loads ranged from 15% to 48%, with a median of 31\.5% overall; affected carriers showed mutation loads from 15% to 48%, with a median of 31\.5%. In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in muscle (48%) than in blood (15%). The main clinical manifestations among affected carriers included occipital headache, ataxia, dysarthria, dystonia, hemianopia, seizures, and stroke\-like MRI.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 12770 | m.12770A\>G | A12770G\-F1 | United Kingdom | MELAS | 0 | 0 | 2003 | [12509858](https://pubmed.ncbi.nlm.nih.gov/12509858/) |  |

# **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 | 12770 | m.12770A\>G | A12770G\-F1 | A12770G\-F1\-P1 | De novo | M | Y | Y | A | onset 8\.5 y; age 10\.3 y follow\-up | 15% | 48% | / | / | Occipital headache, seizures, hemianopia, stroke\-like MRI, ataxia, dysarthria, dystonia | Patient 1 |

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