A5889G

# **General Information**

| **Position** | **5889** | **Variant** | **m.5889A\>G** | **Locus** | **MT\-TY** | **RNA** | **tRNA Tyr** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | 66\.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.5889A\>G** variant in MT\-TY has been reported in 1 pedigree. To date, 1 carrier has been reported. Reported mutation loads ranged from 0% to 85\.8%, with a median of 26% overall; affected carriers showed mutation loads from 0% to 85\.8%, with a median of 26%. In one affected carrier, the mutation was undetectable in fibroblasts (0%) but exceeded 20% in muscle (85\.8%), urine (49\.3%), and bone marrow (26%). The main clinical manifestations among affected carriers included progressive neurologic deterioration, failure to thrive, hearing and vision loss, and myopathy.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 5889 | m.5889A\>G | A5889G\-F1 | USA | Progressive neurologic deterioration, hearing and vision loss, myopathy, failure to thrive | 0 | 0 | 2020 | [33279411](https://pubmed.ncbi.nlm.nih.gov/33279411/) |  |

# **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 | 5889 | m.5889A\>G | A5889G\-F1 | A5889G\-F1\-P1 | De novo | F | Y | Y | D | 19 | 0\.17 | 0\.858 | 0\.493 | 26%(BM); 0%(F) | Progressive neurologic deterioration, hearing and vision loss, myopathy, failure to thrive |  |

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