A643G

# **General Information**

| **Position** | **643** | **Variant** | **m.643A\>G** | **Locus** | **MT\-TF** | **RNA** | **tRNA Phe** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **mitoTIP** | 38\.20% | **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.643A\>G** variant in MT\-TF has been reported in 1 pedigree. To date, 7 carriers have been reported. Mutation\-load data were not available. The main clinical manifestations among affected carriers included tubulopathy, CKD, mild albuminuria, elevated RBP, and ESKD.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 643 | m.643A\>G | [A643G\-F1 ](https://mitofam.com/doc/970/)| The Netherlands | Gitelman\-Like Syndrome | 0 | 6 | 2022 | 34607911 |  |

# **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 | 643 | m.643A\>G | A643G\-F1 | A643G\-F1\-I2 | Uninf | F | N | Y | A | 50 | / | / | / | / | CKD |  |
| 2 | 643 | m.643A\>G | A643G\-F1 | A643G\-F1\-II2 | Fam | F | N | Y | A | 22 | / | / | / | / | Tubulopathy, CKD, mild albuminuria |  |
| 3 | 643 | m.643A\>G | A643G\-F1 | A643G\-F1\-II4 | Fam | F | N | Y | A | 21 | / | / | / | / | Tubulopathy, CKD |  |
| 4 | 643 | m.643A\>G | A643G\-F1 | A643G\-F1\-II5 | Fam | F | N | Y | A | 14 | / | / | / | / | Tubulopathy |  |
| 5 | 643 | m.643A\>G | A643G\-F1 | A643G\-F1\-III1 | Fam | F | Y | Y | A | 2 | / | / | / | / | Tubulopathy, ESKD, mild albuminuria, elevated RBP |  |
| 6 | 643 | m.643A\>G | A643G\-F1 | A643G\-F1\-III2 | Fam | F | N | Y | A | 1 | / | / | / | / | Tubulopathy, mild albuminuria, elevated RBP |  |
| 7 | 643 | m.643A\>G | A643G\-F1 | A643G\-F1\-III3 | Fam | F | N | Y | A | ND | / | / | / | / | Tubulopathy |  |

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