C602T

# **General Information**

| **Position** | **602** | **Variant** | **m.602C\>T** | **Locus** | **MT\-TF** | **RNA** | **tRNA Phe** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | 85\.90% | **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.602C\>T** variant in MT\-TF has been reported in 1 pedigree. To date, 8 carriers have been reported. Reported mutation loads ranged from 0% to 64\.7%, with a median of 32\.4% overall; affected carriers showed mutation loads from 0% to 64\.7%, with a median of 32\.4%. In one affected carrier, the mutation was undetectable in blood (0%) but exceeded 20% in muscle (64\.7%). The main clinical manifestations among affected carriers included cK levels elevated, bent spine, atrophy of the paraspinal muscles, hashimoto thyroiditis, late\-onset paraspinal muscle atrophy and generalized seizures with encephalopathy, paraspinal muscle atrophy and cerebellar ataxia, and seizure.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 602 | m.602C\>T | [C602T\-F1 ](https://mitofam.com/doc/978/)| Japan | Late\-onset predominant axial myopathy and encephalopathy | 14 | 7 | 2011 | 21424749 |  |

# **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 | 602 | m.602C\>T | C602T\-F1 | C602T\-F1\-II3 | Fam | F | N | Y | D | ND | / | / | / | / | Bent spine |  |
| 2 | 602 | m.602C\>T | C602T\-F1 | C602T\-F1\-II4 | Fam | F | N | Y | D | ND | / | / | / | / | Bent spine |  |
| 3 | 602 | m.602C\>T | C602T\-F1 | C602T\-F1\-III8 | Fam | F | Y | Y | A | 73 | 0% | 64\.7% | / | / | Paraspinal muscle atrophy and cerebellar ataxia, atrophy of the paraspinal muscles |  |
| 4 | 602 | m.602C\>T | C602T\-F1 | C602T\-F1\-III5 | Fam | F | N | Y | D | 84 | / | / | / | / | Late\-onset paraspinal muscle atrophy and generalized seizures with encephalopathy, atrophy of the paraspinal muscles |  |
| 5 | 602 | m.602C\>T | C602T\-F1 | C602T\-F1\-IV2 | Fam | M | N | Y | A | ND | / | / | / | / | CK levels elevated |  |
| 6 | 602 | m.602C\>T | C602T\-F1 | C602T\-F1\-IV3 | Fam | M | N | Y | A | ND | / | / | / | / | CK levels elevated |  |
| 7 | 602 | m.602C\>T | C602T\-F1 | C602T\-F1\-IV4 | Fam | M | N | Y | A | ND | / | / | / | / | CK levels elevated, seizure |  |
| 8 | 602 | m.602C\>T | C602T\-F1 | C602T\-F1\-IV5 | Fam | M | N | Y | A | ND | / | / | / | / | Hashimoto thyroiditis, CK levels elevated |  |

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