G4831A

# **General Information**

| **Position** | **4831** | **Variant** | **m.4831G\>A** | **Locus** | **MT\-ND2** | **Amino\-AcidChange** | **G121D** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **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.4831G\>A** variant in MT\-ND2 has been reported in 1 pedigree. To date, 1 carrier has been reported. Reported mutation loads ranged from 5% to 95%, with a median of 40% overall; affected carriers showed mutation loads from 5% to 95%, with a median of 40%. In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in muscle (95%) and urine (40%) than in blood (less than 5%). The main clinical manifestations among affected carriers included isolated myopathy with exercise intolerance, diffuse muscle hypotrophy., and vomiting.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 4831 | m.4831G\>A | G4831A\-F1 | Italy | Isolated myopathy | 0 | 0 | 2017 | [28070494](https://pubmed.ncbi.nlm.nih.gov/28070494/) |  |

# **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 | 4831 | m.4831G\>A | G4831A\-F1 | G4831A\-F1\-P1 | De novo | M | Y | Y | A | 20y | \<5% | 95% | 40% | / | Isolated myopathy with exercise intolerance, vomiting, diffuse muscle hypotrophy. |  |

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