G5521A

# **General Information**

| **Position** | **5521** | **Variant** | **M.5521G\>A** | **Locus** | **MT\-TW** | **RNA** | **TRNA Trp** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **MitoTIP** | Pathogenic | **Pathogenicity** | Cfrm \[LP] |

"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.5521G\>A** variant in MT\-TW has been reported in 1 pedigree. To date, 1 carrier has been reported. Reported mutation loads ranged from 0% to 98%, with a median of 49% overall; affected carriers showed mutation loads from 0% to 98%, with a median of 49%. In one affected carrier, the mutation was undetectable in blood (0%) but exceeded 20% in muscle (98%). The main clinical manifestations among affected carriers included late\-onset mitochondrial myopathy.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 5521 | M.5521G\>A | [G5521A\-F1 ](https://mitofam.com/doc/872/)| Italy | Late\-onset mitochondrial myopathy | 5 | 2 | 1998 | [9673981](https://pubmed.ncbi.nlm.nih.gov/9673981/) |  |

# **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 | 5521 | M.5521G\>A | G5521A\-F1 | G5521A\-F1\-II7 | Fam | M | Y | Y | A | 68 | 0 | 98% | / | / | Late\-onset mitochondrial myopathy |  |

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