G4516A

# **General Information**

| **Position** | **4516** | **Variant** | **m.4516G\>A** | **Locus** | **MT\-ND2** | **Amino\-AcidChange** | **G16D** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **APOGEE2** | 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.4516G\>A** variant in MT\-ND2 has been reported in 1 pedigree. To date, 3 carriers have been reported. Homoplasmy was reported in 3/3 carriers (100%), and 1/3 carriers (33\.3%) were affected. The main clinical manifestations among affected carriers included lHON with vertigo, and postural hand tremor, and gait instability.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 4516 | m.4516G\>A | [G4516A\-F1 ](https://mitofam.com/doc/1188/)| Serbia | LHON | 2 | 0 | 2020 | [31743754](https://pubmed.ncbi.nlm.nih.gov/31743754/) |  |

# **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 | 4516 | m.4516G\>A | G4516A\-F1 | G4516A\-F1\-III1 | Uninf | F | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 2 | 4516 | m.4516G\>A | G4516A\-F1 | G4516A\-F1\-IV1 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 3 | 4516 | m.4516G\>A | G4516A\-F1 | G4516A\-F1\-IV2 | Fam | M | Y | Y | A | ND | Homo | / | / | / | LHON with vertigo, gait instability, and postural hand tremor |  |

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