A5559G

# General Information

| **Position** | **5559** | **Variant** | **M.5559A\>G** | **Locus** | **MT\-TW** | **RNA** | **TRNA Trp** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **MitoTIP** | 70\.10% | **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.5559A\>G** variant in MT\-TW has been reported in 1 pedigree. To date, 2 carriers have been reported. Reported mutation loads ranged from 23% to 43%, with a median of 33% overall; affected carriers showed mutation loads from 43%, with a median of 43%; unaffected carriers showed mutation loads from 23%, with a median of 23%. The main clinical manifestations among affected carriers included leigh syndrome with psychomotor delay, lactate acidosis and caudate, putamen MRI lesions, and vomiting.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 5559 | M.5559A\>G | [A5559G\-F](https://mitofam.com/doc/864/)1 | Tunisia | Leigh syndrome | ND | ND | 2009 | [19349200](https://pubmed.ncbi.nlm.nih.gov/19349200/) |  |

# 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 | 5559 | M.5559A\>G | A5559G\-F1 | A5559G\-F1\-I2 | Uninf | F | N | N | A | ND | 23% | / | / | / | Healthy |  |
| 2 | 5559 | M.5559A\>G | A5559G\-F1 | A5559G\-F1\-II1 | Fam | F | Y | Y | A | 11 | 43% | / | / | / | Leigh syndrome with psychomotor delay, vomiting, lactate acidosis and caudate/putamen MRI lesions |  |

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