T5728C

# **General Information**

| **Position** | **5728** | **Variant** | **m.5728T\>C** | **Locus** | **MT\-TN** | **RNA** | **tRNA Asn** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **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.5728T\>C** variant in MT\-TN has been reported in 2 pedigrees. To date, 2 carriers have been reported. Reported mutation loads ranged from 0% to 97%, with a median of 50% overall; affected carriers showed mutation loads from 0% to 97%, with a median of 50%. In one affected carrier, the mutation was undetectable in blood (0%) but exceeded 20% in muscle (41%). The main clinical manifestations among affected carriers included multiorgan failure and myasthenia graves\-like symptoms.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 5728 | m.5728T\>C | T5728C\-F1 | Belgium | Multiorgan failure | 0 | 0 | 2006 | [16908752](https://pubmed.ncbi.nlm.nih.gov/16908752/) |  |
| 2 | 5728 | m.5728T\>C | T5728C\-F2 | Canada | Myasthenia graves\-like symptoms | 0 | 0 | 2019 | [31026515](https://pubmed.ncbi.nlm.nih.gov/31026515/) |  |

# **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 | 5728 | m.5728T\>C | T5728C\-F1 | T5728C\-F1\-II1 | De novo | M | Y | Y | A | 2 | 50% | 97% | / | 50%(F) | Multiorgan failure |  |
| 2 | 5728 | m.5728T\>C | T5728C\-F2 | T5728C\-F2\-II1 | De novo | F | Y | Y | A | 9 | 0 | 41% | / | / | Myasthenia graves\-like symptoms |  |

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