T4353C

# **General Information**

| **Position** | **4353** | **Variant** | **m.4353T\>C** | **Locus** | **MT\-TQ** | **RNA** | **tRNA Gln** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **mitoTIP** | 31\.60% | **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.4353T\>C** variant in MT\-TQ has been reported in 2 pedigrees. To date, 12 carriers have been reported. Homoplasmy was reported in 12/12 carriers (100%), and 12/12 carriers (100%) were affected. The main clinical manifestations among affected carriers included hypertension.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 4353 | m.4353T\>C | [T4353C\-F1](https://mitofam.com/doc/697/) | China | Hypertension | 6 | 6 | 2012 | [22549939](https://pubmed.ncbi.nlm.nih.gov/22549939/) | Carrying C593T,C5553T |
| 2 | 4353 | m.4353T\>C | [T4353C\-F2](https://mitofam.com/doc/698/) | China | Hypertension | 1 | 6 | 2012 | [22549939](https://pubmed.ncbi.nlm.nih.gov/22549939/) | Carrying C593T,C5553T |

# **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 | 4353 | m.4353T\>C | T4353C\-F1 | T4353C\-F1\-II2 | Fam | F | Y | Y | A | 81 | Homo | / | / | / | Hypertension | Carrying C593T,C5553T |
| 2 | 4353 | m.4353T\>C | T4353C\-F1 | T4353C\-F1\-II4 | Fam | F | N | Y | A | 78 | Homo | / | / | / | Hypertension | Carrying C593T,C5553T |
| 3 | 4353 | m.4353T\>C | T4353C\-F1 | T4353C\-F1\-III1 | Fam | M | N | Y | A | 59 | Homo | / | / | / | Hypertension | Carrying C593T,C5553T |
| 4 | 4353 | m.4353T\>C | T4353C\-F1 | T4353C\-F1\-III6 | Fam | F | N | Y | A | 63 | Homo | / | / | / | Hypertension | Carrying C593T,C5553T |
| 5 | 4353 | m.4353T\>C | T4353C\-F1 | T4353C\-F1\-III7 | Fam | M | N | Y | D | 39 | Homo | / | / | / | Hypertension | Carrying C593T,C5553T |
| 6 | 4353 | m.4353T\>C | T4353C\-F1 | T4353C\-F1\-III9 | Fam | M | N | Y | A | 48 | Homo | / | / | / | Hypertension | Carrying C593T,C5553T |
| 7 | 4353 | m.4353T\>C | T4353C\-F1 | T4353C\-F1\-IV4 | Fam | F | N | Y | A | 43 | Homo | / | / | / | Hypertension | Carrying C593T,C5553T |
| 8 | 4353 | m.4353T\>C | T4353C\-F2 | T4353C\-F2\-II3 | Fam | F | Y | Y | A | 94 | Homo | / | / | / | Hypertension | Carrying C593T,C5553T |
| 9 | 4353 | m.4353T\>C | T4353C\-F2 | T4353C\-F2\-III1 | Fam | M | N | Y | A | 75 | Homo | / | / | / | Hypertension | Carrying C593T,C5553T |
| 10 | 4353 | m.4353T\>C | T4353C\-F2 | T4353C\-F2\-III3 | Fam | M | N | Y | A | 65 | Homo | / | / | / | Hypertension | Carrying C593T,C5553T |
| 11 | 4353 | m.4353T\>C | T4353C\-F2 | T4353C\-F2\-III6 | Fam | F | N | Y | A | 70 | Homo | / | / | / | Hypertension | Carrying C593T,C5553T |
| 12 | 4353 | m.4353T\>C | T4353C\-F2 | T4353C\-F2\-IV5 | Fam | F | N | Y | A | 51 | Homo | / | / | / | Hypertension | Carrying C593T,C5553T |

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