G5698A

# **General Information**

| **Position** | **5698** | **Variant** | **m.5698G\>A** | **Locus** | **MT\-TN** | **RNA** | **tRNA Asn** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | 47\.70% | **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.5698G\>A** variant in MT\-TN has been reported in 3 pedigrees. To date, 3 carriers have been reported. Reported mutation loads ranged from 20% to 85%, with a median of 80% overall; affected carriers showed mutation loads from 20% to 85%, with a median of 80%. In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in muscle (80%) than in blood (20%). The main clinical manifestations among affected carriers included muscle weakness, myopathy, PEO, ophthalmoplegia, ophthamoplegia, peripheral neuropathy, and tremble.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 5698 | m.5698G\>A | G5698A\-F1 | France | PEO | ND | ND | 2001 | [11335700](https://pubmed.ncbi.nlm.nih.gov/11335700/) | Carrying T4418C |
| 2 | 5698 | m.5698G\>A | G5698A\-F2 | Italy | Myopathy, ophthalmoplegia | ND | ND | 2004 | [15564038](https://pubmed.ncbi.nlm.nih.gov/15564038/) |  |
| 3 | 5698 | m.5698G\>A | G5698A\-F3 | China | Muscle weakness, ophthamoplegia, tremble, peripheral neuropathy | ND | ND | 2024 | [39175050](https://pubmed.ncbi.nlm.nih.gov/39175050/) |  |

# **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 | 5698 | m.5698G\>A | G5698A\-F1 | G5698A\-F1\-P1 | Uninf | F | Y | Y | A | 33 | / | \+ | / | / | PEO | Carrying T4418C |
| 2 | 5698 | m.5698G\>A | G5698A\-F2 | G5698A\-F2\-P1 | Uninf | M | Y | Y | A | 55 | 20% | 80% | / | / | Myopathy, ophthalmoplegia |  |
| 3 | 5698 | m.5698G\>A | G5698A\-F3 | G5698A\-F3\-P1 | Uninf | F | Y | Y | A | 11 | / | 85% | / | / | Muscle weakness, ophthamoplegia, tremble, peripheral neuropathy |  |

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