G5631A

# **General Information**

| **Position** | **5631** | **Variant** | **m.5631G\>A** | **Locus** | **MT\-TA** | **RNA** | **tRNA Ala** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | 43\.40% | **Pathogenicity** | Reported \[VUS] |

"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.5631G\>A** variant in MT\-TA has been reported in 1 pedigree. To date, 2 carriers have been reported. Reported mutation loads ranged from 4% to 92%, with a median of 56\.5% overall; affected carriers showed mutation loads from 44% to 92%, with a median of 77%; unaffected carriers showed mutation loads from 4% to 8%, with a median of 6%. In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in muscle (92%) than in buccal epithelial cells (44%). In one unaffected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in blood (8%) than in urine (4%). The main clinical manifestations among affected carriers included distal and proximal paresis and mild symmetrical ptosis.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 5631 | m.5631G\>A | [G5631A\-F1](https://mitofam.com/doc/792/) | Germany | Isolated mitochondrial myopathy | 1 | 0 | 2015 | [25873012](https://pubmed.ncbi.nlm.nih.gov/25873012/) |  |

# **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 | 5631 | m.5631G\>A | G5631A\-F1 | G5631A\-F1\-II1 | Fam | F | Y | Y | A | 29 | 77% | 92% | 69% | 77% (H); 44% (Buccal epithelial cells) | Distal and proximal paresis; mild symmetrical ptosis |  |
| 2 | 5631 | m.5631G\>A | G5631A\-F1 | G5631A\-F1\-I2 | Uninf | F | N | N | A | ND | 8% | / | 4% | 6%(BM) | Healthy |  |

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