G5877A

# **General Information**

| **Position** | **5877** | **Variant** | **m.5877G\>A** | **Locus** | **MT\-TY** | **RNA** | **tRNA Tyr** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | N/A | **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.5877G\>A** variant in MT\-TY has been reported in 1 pedigree. To date, 4 carriers have been reported. Reported mutation loads ranged from 0\.7% to 73%, with a median of 36\.9% overall; affected carriers showed mutation loads from 0\.7% to 73%, with a median of 36\.9%. In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in muscle (73%) than in blood (0\.7%). The main clinical manifestations among affected carriers included moderate degrees of ptosis, ptosis, atrioventricular conduction block, episodic diarrhoea, external ophthalmoplegia, and proximal muscle weakness.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 5877 | m.5877G\>A | [G5877A\-F1](https://mitofam.com/doc/717/) | Japan | CPEO | 2 | 1 | 2001 | [11594340](https://pubmed.ncbi.nlm.nih.gov/11594340/) |  |

# **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 | 5877 | m.5877G\>A | G5877A\-F1 | G5877A\-F1\-I2 | Uninf | F | N | Y | D | ND | \+ | / | / | / | Ptosis |  |
| 2 | 5877 | m.5877G\>A | G5877A\-F1 | G5877A\-F1\-II2 | Fam | F | Y | Y | A | 45 | 0\.007 | 0\.73 | / | / | Moderate degrees of ptosis, external ophthalmoplegia, proximal muscle weakness, episodic diarrhoea, atrioventricular conduction block |  |
| 3 | 5877 | m.5877G\>A | G5877A\-F1 | G5877A\-F1\-III1 | Fam | M | N | N | A | 21 | \+ | / | / | \+(Umbilical cord) | Healthy |  |
| 4 | 5877 | m.5877G\>A | G5877A\-F1 | G5877A\-F1\-III2 | Fam | F | N | N | A | 19 | \+ | / | / | \+(Umbilical cord) | Healthy |  |

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