T5655C

# General Information

| **Position** | **5655** | **Variant** | **m.5655T\>C** | **Locus** | MT\-TA | **RNA** | tRNA Ala |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **mitoTIP** | 26\.70% | **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.5655T\>C** variant in MT\-TA has been reported in 3 pedigrees. To date, 3 carriers have been reported. Homoplasmy was reported in 3/3 carriers (100%), and 3/3 carriers (100%) were affected. The main clinical manifestations among affected carriers included late\-onset isolated essential hypertension, maternally inherited hypertension, and maternally inherited late\-onset hypertension.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 5655 | m.5655T\>C | T5655C\-F1 | China | Maternally Inherited Essential Hypertension | 7 | 11 | 2016 | [27161322](https://pubmed.ncbi.nlm.nih.gov/27161322/) |  |
| 2 | 5655 | m.5655T\>C | T5655C\-F2 | China | Maternally Inherited Essential Hypertension | 6 | 2 | 2016 | [27161322](https://pubmed.ncbi.nlm.nih.gov/27161322/) |  |
| 3 | 5655 | m.5655T\>C | T5655C\-F3 | China | Maternally Inherited Essential Hypertension | 8 | 8 | 2016 | [27161322](https://pubmed.ncbi.nlm.nih.gov/27161322/) |  |

# 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 | 5655 | m.5655T\>C | T5655C\-F1 | T5655C\-F1\-II13 | Fam | M | Y | Y | A | 55 | Homo | / | / | / | Maternally inherited hypertension |  |
| 2 | 5655 | m.5655T\>C | T5655C\-F2 | T5655C\-F2\-II3 | Fam | M | Y | Y | A | 55 | Homo | / | / | / | Late\-onset isolated essential hypertension |  |
| 3 | 5655 | m.5655T\>C | T5655C\-F3 | T5655C\-F3\-II5 | Fam | F | Y | Y | A | 65 | Homo | / | / | / | Maternally inherited late\-onset hypertension |  |

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