G4810A

# **General Information**

| **Position** | **4810** | **Variant** | **m.4810G\>A** | **Locus** | **MT\-ND2** | **Amino\-AcidChange** | **W114Term** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **APOGEE2** | NA | **Pathogenicity** | Cfrm \[LP] |

"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.4810G\>A** variant in MT\-ND2 has been reported in 1 pedigree. To date, 1 carrier has been reported. Reported mutation loads ranged from 7\.2% to 94%, with a median of 84\.3% overall; affected carriers showed mutation loads from 7\.2% to 94%, with a median of 84\.3%. In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in muscle (94%) and rrf (84\.3%) than in non\-rrf (7\.2%). The main clinical manifestations among affected carriers included exercise intolerance, bilateral mild ptosis, early external ophthalmoplegia, fatigue, mild kyphoscoliosis, myalgia, and proximal weakness.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 4810 | m.4810G\>A | G4810A\-F1 | United Kingdom | EXIT with myalgia and ophthalmoplegia | ND | ND | 2005 | [15781840](https://pubmed.ncbi.nlm.nih.gov/15781840/) |  |

# **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 | 4810 | m.4810G\>A | G4810A\-F1 | G4810A\-F1\-P1 | De novo | F | Y | Y | A | 49y | / | 94% | / | 84\.27%(RRF); 7\.15%(non\-RRF) | Exercise intolerance, fatigue, myalgia, mild kyphoscoliosis, bilateral mild ptosis, early external ophthalmoplegia, proximal weakness |  |

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