G5513A

# General Information

| **Position** | **5513** | **Variant** | **M.5513G\>A** | **Locus** | **MT\-TW** | **RNA** | **TRNA Trp** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **MitoTIP** | 32\.60% | **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.5513G\>A** variant in MT\-TW has been reported in 1 pedigree. To date, 2 carriers have been reported. Reported mutation loads ranged from 0\.7% to 77\.9%, with a median of 17\.8% overall; affected carriers showed mutation loads from 0\.7% to 77\.9%, with a median of 17\.8%. In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in blood (10\.3%), muscle (77\.9%), urine (18\.5%), and bone marrow (17\.8%) than in hair (0\.7%). The main clinical manifestations among affected carriers included myoclonus epilepsy, leukoencephalopathy and cerebral calcifications, and retinitis pigmentosa.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 5513 | M.5513G\>A | [G5513A\-F1 ](https://mitofam.com/doc/870/)| Italy | Myoclonus epilepsy, retinitis pigmentosa, leukoencephalopathy and cerebral calcifications | ND | ND | 2018 | [29625105](https://pubmed.ncbi.nlm.nih.gov/29625105/) |  |

# 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 | 5513 | M.5513G\>A | G5513A\-F1 | G5513A\-F1\-I2 | Uninf | F | N | N | A | ND | \+ | ND | ND | \+ | Clinically asymptomatic carrier except tics and dyskinesias |  |
| 2 | 5513 | M.5513G\>A | G5513A\-F1 | G5513A\-F1\-II1 | Fam | F | Y | Y | A | 40 | 10\.3% | 77\.9% | 18\.5% | 17\.8%(BM),0\.7%(H) | Myoclonus epilepsy, retinitis pigmentosa, leukoencephalopathy and cerebral calcifications |  |

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