A590G

# **General Information**

| **Position** | **590** | **Variant** | **m.590A\>G** | **Locus** | **MT\-TF** | **RNA** | **tRNA Phe** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | 16\.30% | **Pathogenicity** | Reported \[VUS] |

"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.590A\>G** variant in MT\-TF has been reported in 1 pedigree. To date, 3 carriers have been reported. Reported mutation loads ranged from 0% to 92%, with a median of 0% overall; affected carriers showed mutation loads from 0% to 92%, with a median of 0%; unaffected carriers showed mutation loads from 0% to 5%, with a median of 0%. In one affected carrier, the mutation was undetectable in blood (0%), urine (0%), and bone marrow (0%) but exceeded 20% in muscle (92%). The main clinical manifestations among affected carriers included static cerebellar ataxia, exercise intolerance, and retinitis pigmentosa.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 590 | m.590A\>G | [A590G\-F1 ](https://mitofam.com/doc/964/)| France | Static cerebellar ataxia, exercise intolerance, retinitis pigmentosa | 2 | 0 | 2020 | 32419253 |  |

# **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 | 590 | m.590A\>G | A590G\-F1 | A590G\-F1\-I2 | Uninf | F | N | N | A | ND | \<5% | / | 0 | 0% (BM) | Healthy |  |
| 2 | 590 | m.590A\>G | A590G\-F1 | A590G\-F1\-II1 | Fam | F | N | N | A | ND | 0 | / | 0 | 0% (BM) | Healthy |  |
| 3 | 590 | m.590A\>G | A590G\-F1 | A590G\-F1\-II2 | Fam | F | Y | Y | A | 43 | 0 | 92% | 0 | 0% (BM) | Static cerebellar ataxia, exercise intolerance, retinitis pigmentosa |  |

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