G5703A

# **General Information**

| **Position** | **5703** | **Variant** | **m.5703G\>A** | **Locus** | **MT\-TN** | **RNA** | **tRNA Asn** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | Pathogenic | **Pathogenicity** | Cfrm \[P] |

"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.5703G\>A** variant in MT\-TN has been reported in 4 pedigrees. To date, 4 carriers have been reported. Reported mutation loads ranged from 4% to 80%, with a median of 14% overall; affected carriers showed mutation loads from 4% to 80%, with a median of 14%. In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in muscle (69%) than in blood (4%). In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in muscle (14%) and urine (11%) than in blood (5%). The main clinical manifestations among affected carriers included CPEO, exercise intolerance, MERRF, ocular myopathy, progressive ptosis, deafness, impaired ocular motility, and underweight.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 5703 | m.5703G\>A | G5703A\-F1 | USA | Ocular myopathy | 0 | 0 | 1993 | [8254046](https://pubmed.ncbi.nlm.nih.gov/8254046/) |  |
| 2 | 5703 | m.5703G\>A | G5703A\-F2 | Spain | Progressive ptosis, impaired ocular motility | ND | ND | 2003 | [14518831](https://pubmed.ncbi.nlm.nih.gov/14518831/) |  |
| 3 | 5703 | m.5703G\>A | G5703A\-F3 | China | MERRF | ND | ND | 2019 | [30897601](https://pubmed.ncbi.nlm.nih.gov/30897601/) |  |
| 4 | 5703 | m.5703G\>A | G5703A\-F4 | France | Exercise intolerance, deafness, CPEO, underweight | 0 | 0 | 2020 | [32419253](https://pubmed.ncbi.nlm.nih.gov/32419253/) |  |

# **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 | 5703 | m.5703G\>A | G5703A\-F1 | G5703A\-F1\-III1 | De novo | F | Y | Y | A | 9 months | 4% | 69% | / | 6%(F) | Ocular myopathy |  |
| 2 | 5703 | m.5703G\>A | G5703A\-F2 | G5703A\-F2\-P1 | Uninf | F | Y | Y | A | 4 | 48% | 80% | / | / | Progressive ptosis, impaired ocular motility |  |
| 3 | 5703 | m.5703G\>A | G5703A\-F3 | G5703A\-F3\-P1 | Uninf | M | Y | Y | A | 18 | 61% | 77% | / | / | MERRF |  |
| 4 | 5703 | m.5703G\>A | G5703A\-F4 | G5703A\-F4\-II1 | De novo | F | Y | Y | A | 45 | 5% | 14% | 11% | 7%(BM) | Exercise intolerance, deafness, CPEO, underweight |  |

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