C591T

# **General Information**

| **Position** | **591** | **Variant** | **m.591C\>T** | **Locus** | **MT\-TF** | **RNA** | **tRNA Phe** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **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.591C\>T** variant in MT\-TF has been reported in 7 pedigrees. To date, 19 carriers have been reported. Reported mutation loads ranged from 55% to 100%, with a median of 98% overall; affected carriers showed mutation loads from 55% to 100%, with a median of 98%. The main clinical manifestations among affected carriers included tubulopathy and CKD.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 591 | m.591C\>T | [C591T\-F1](https://mitofam.com/doc/972/) | The Netherlands | Gitelman\-Like Syndrome | 1 | 7 | 2022 | 34607911 |  |
| 2 | 591 | m.591C\>T | [C591T\-F2](https://mitofam.com/doc/973/) | The Netherlands | Gitelman\-Like Syndrome | 1 | 7 | 2022 | 34607911 |  |
| 3 | 591 | m.591C\>T |[ C591T\-F3](https://mitofam.com/doc/974/) | The Netherlands | Gitelman\-Like Syndrome | 0 | 1 | 2022 | 34607911 |  |
| 4 | 591 | m.591C\>T | [C591T\-F4 ](https://mitofam.com/doc/975/)| The Netherlands | Gitelman\-Like Syndrome | 0 | 1 | 2022 | 34607911 |  |
| 5 | 591 | m.591C\>T | C591T\-F5 | The Netherlands | Gitelman\-Like Syndrome | 1 | 0 | 2022 | 34607911 |  |
| 6 | 591 | m.591C\>T | [C591T\-F6 ](https://mitofam.com/doc/976/)| The Netherlands | Gitelman\-Like Syndrome | 4 | 1 | 2022 | 34607911 |  |
| 7 | 591 | m.591C\>T | C591T\-F7 | The Netherlands | Gitelman\-Like Syndrome | 7 | 4 | 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 | 591 | m.591C\>T | C591T\-F1 | C591T\-F1\-II6 | Fam | F | N | Y | A | ND | 98% | / | / | / | Tubulopathy |  |
| 2 | 591 | m.591C\>T | C591T\-F1 | C591T\-F1\-III1 | Fam | F | N | Y | A | 5 | 98% | / | / | / | Tubulopathy |  |
| 3 | 591 | m.591C\>T | C591T\-F1 | C591T\-F1\-III2 | Fam | M | N | Y | A | 10 | 98% | / | / | / | Tubulopathy |  |
| 4 | 591 | m.591C\>T | C591T\-F1 | C591T\-F1\-III4 | Fam | M | Y | Y | A | 8 | 98% | / | / | / | Tubulopathy |  |
| 5 | 591 | m.591C\>T | C591T\-F1 | C591T\-F1\-III5 | Fam | F | N | Y | A | ND | 99% | / | / | / | Tubulopathy |  |
| 6 | 591 | m.591C\>T | C591T\-F2 | C591T\-F2\-II6 | Fam | F | N | Y | A | ND | 98% | / | / | / | Tubulopathy |  |
| 7 | 591 | m.591C\>T | C591T\-F2 | C591T\-F2\-III1 | Fam | F | N | Y | A | 5 | 73% | / | / | / | Tubulopathy |  |
| 8 | 591 | m.591C\>T | C591T\-F2 | C591T\-F2\-III2 | Fam | M | N | Y | A | 10 | 55% | / | / | / | Tubulopathy |  |
| 9 | 591 | m.591C\>T | C591T\-F2 | C591T\-F2\-III4 | Fam | M | Y | Y | A | 8 | 71% | / | / | / | Tubulopathy |  |
| 10 | 591 | m.591C\>T | C591T\-F2 | C591T\-F2\-III5 | Fam | F | N | Y | A | ND | 99% | / | / | / | Tubulopathy |  |
| 11 | 591 | m.591C\>T | C591T\-F3 | C591T\-F3\-I2 | Uninf | F | N | Y | A | ND | 98% | / | / | / | CKD |  |
| 12 | 591 | m.591C\>T | C591T\-F3 | C591T\-F3\-II1 | Fam | M | Y | Y | A | 12 | 98% | / | / | / | Tubulopathy |  |
| 13 | 591 | m.591C\>T | C591T\-F3 | C591T\-F3\-II2 | Fam | F | Y | Y | A | 10 | 98% | / | / | / | Tubulopathy |  |
| 14 | 591 | m.591C\>T | C591T\-F4 | C591T\-F4\-I2 | Uninf | F | Y | Y | A | 33 | 98% | / | / | / | Tubulopathy |  |
| 15 | 591 | m.591C\>T | C591T\-F4 | C591T\-F4\-II1 | Fam | F | N | Y | A | 8 | 98% | / | / | / | Tubulopathy |  |
| 16 | 591 | m.591C\>T | C591T\-F5 | C591T\-F5\-II1 | Fam | F | Y | Y | A | 18 | 1 | / | / | / | Tubulopathy |  |
| 17 | 591 | m.591C\>T | C591T\-F6 | C591T\-F6\-I2 | Uninf | F | N | Y | A | ND | 1 | / | / | / | Tubulopathy, CKD |  |
| 18 | 591 | m.591C\>T | C591T\-F6 | C591T\-F6\-II3 | Fam | F | Y | Y | A | 39 | 1 | / | / | / | Tubulopathy, CKD |  |
| 19 | 591 | m.591C\>T | C591T\-F7 | C591T\-F7\-III1 | Fam | F | Y | Y | A | 40 | 98% | / | / | / | Tubulopathy |  |

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