T4454C

# General Information

| **Position** | **4454** | **Variant** | **m.4454T\>C** | **Locus** | **MT\-TM** | **RNA** | **tRNA Met** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **mitoTIP** | 0\.80% | **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.4454T\>C** variant in MT\-TM has been reported in 2 pedigrees. To date, 10 carriers have been reported. Homoplasmy was reported in 1/10 carriers (10%), and 4/10 carriers (40%) were affected. The main clinical manifestations among affected carriers included high blood presure and palpitations and shortness of breath after exercise.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 4454 | m.4454T\>C | T4454C\-F1 | China | Dilated cardiomyopathy | ND | ND | 2015 | [https://kns.cnki.net/kcms2/article/abstract?v\=W\-y7fKBVJCzVJebv\-\_qjklLLnvjHKlfxjJptSq9rSQYVxlwLFKNTEKkMAhha8cGA1Gpslv7qk0GElgzBSiuPKtEDJdsar6X9Qb\-i\_7gI0aju6HfboeQFthneznT6BJIFLGOtayVKB6M9TDXPsm8uuGGUZYDal9Va1eHez00FIlNn74eWqbvwAw\=\=\&uniplatform\=NZKPT\&language\=CHS](https://kns.cnki.net/kcms2/article/abstract?v=W-y7fKBVJCzVJebv-_qjklLLnvjHKlfxjJptSq9rSQYVxlwLFKNTEKkMAhha8cGA1Gpslv7qk0GElgzBSiuPKtEDJdsar6X9Qb-i_7gI0aju6HfboeQFthneznT6BJIFLGOtayVKB6M9TDXPsm8uuGGUZYDal9Va1eHez00FIlNn74eWqbvwAw==&uniplatform=NZKPT&language=CHS) |  |
| 2 | 4454 | m.4454T\>C | [T4454C\-F2](https://mitofam.com/doc/672/) | China | Hypertension | 2 | 6 | 2011 | [https://kns.cnki.net/kcms2/article/abstract?v\=W\-y7fKBVJCzWF0s2XAwFpGWrNMpy7Y7nM6vC160iWPjRzEA65OjWNz0Lst\-if43MInzeYfZi6w0\_zCf3wi8lC8TB8mOhHMiyG7o0uleXo8TeX47Kdz8uXtn4qgwcxDphqqWzu\-B14CL7xrfKsnza\_kVY6LElJ\-6uLib\-1Fb9Wtb88d7PU\_rE3Q\=\=\&uniplatform\=NZKPT\&language\=CHS](https://kns.cnki.net/kcms2/article/abstract?v=W-y7fKBVJCzWF0s2XAwFpGWrNMpy7Y7nM6vC160iWPjRzEA65OjWNz0Lst-if43MInzeYfZi6w0_zCf3wi8lC8TB8mOhHMiyG7o0uleXo8TeX47Kdz8uXtn4qgwcxDphqqWzu-B14CL7xrfKsnza_kVY6LElJ-6uLib-1Fb9Wtb88d7PU_rE3Q==&uniplatform=NZKPT&language=CHS) |  |

# 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 | 4454 | m.4454T\>C | T4454C\-F1 | T4454C\-F1\-P1 | Uninf | F | Y | Y | A | 36 | / | / | / | Homo (Cardiomyocytes) | Palpitations and shortness of breath after exercise |  |
| 2 | 4454 | m.4454T\>C | T4454C\-F2 | T4454C\-F2\-I2 | Uninf | F | N | Y | D | ND | / | / | / | / | High blood presure |  |
| 3 | 4454 | m.4454T\>C | T4454C\-F2 | T4454C\-F2\-II2 | Fam | F | N | N | A | ND | / | / | / | / | Healthy |  |
| 4 | 4454 | m.4454T\>C | T4454C\-F2 | T4454C\-F2\-II4 | Fam | F | Y | Y | A | 58 | / | / | / | / | High blood presure |  |
| 5 | 4454 | m.4454T\>C | T4454C\-F2 | T4454C\-F2\-II6 | Fam | F | N | Y | A | ND | / | / | / | / | High blood presure |  |
| 6 | 4454 | m.4454T\>C | T4454C\-F2 | T4454C\-F2\-II8 | Fam | M | N | N | A | ND | / | / | / | / | Healthy |  |
| 7 | 4454 | m.4454T\>C | T4454C\-F2 | T4454C\-F2\-II10 | Fam | M | N | N | A | ND | / | / | / | / | Healthy |  |
| 8 | 4454 | m.4454T\>C | T4454C\-F2 | T4454C\-F2\-III1 | Fam | M | N | N | A | ND | / | / | / | / | Healthy |  |
| 9 | 4454 | m.4454T\>C | T4454C\-F2 | T4454C\-F2\-III2 | Fam | F | N | N | A | ND | / | / | / | / | Healthy |  |
| 10 | 4454 | m.4454T\>C | T4454C\-F2 | T4454C\-F2\-III3 | Fam | M | N | N | A | ND | / | / | / | / | Healthy |  |

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