T4363C

# **General Information**

| **Position** | **4363** | **Variant** | **m.4363T\>C** | **Locus** | **MT\-TQ** | **RNA** | **tRNA Gln** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **mitoTIP** | 9\.50% | **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.4363T\>C** variant in MT\-TQ has been reported in 4 pedigrees. To date, 7 carriers have been reported. Homoplasmy was reported in 7/7 carriers (100%), and 7/7 carriers (100%) were affected. The main clinical manifestations among affected carriers included hypertension, metabolic syndrome, type II diabetes, and polycystic ovary syndrome.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 4363 | m.4363T\>C |[ T4363C\-F1 ](https://mitofam.com/doc/700/)| China | Polycystic Ovary Syndrome, Metabolic Syndrome ,Type II diabetes,hypertension | 2 | 4 | 2018 | [29155328](https://pubmed.ncbi.nlm.nih.gov/29155328/) | Carrying C3275T,A8343G |
| 2 | 4363 | m.4363T\>C | T4363C\-F2 | China | Hypertension | 3 | 1 | 2015 | [https://next.cnki.net/middle/abstract?v\=x0sJsLzXXbiQyIqAA7PEzwu25oBFo\_0PXF6YWtuPtyGrzafvRkOBOsifUHLDLuDpARCmd8gLKPfulxKyt5vwy5RLj3Xmzha8QDJxunKe6496SFD74TpRtgPUzJOxrKRe8LIhsm0WYib2vMpVFTUYRoajdFmOd1KztXkWN0bMkgDC9RKZyR5eSstn443zKFEpQYzi8gIw2H8\=\&uniplatform\=NZKPT\&language\=CHS\&scence\=null](https://next.cnki.net/middle/abstract?v=x0sJsLzXXbiQyIqAA7PEzwu25oBFo_0PXF6YWtuPtyGrzafvRkOBOsifUHLDLuDpARCmd8gLKPfulxKyt5vwy5RLj3Xmzha8QDJxunKe6496SFD74TpRtgPUzJOxrKRe8LIhsm0WYib2vMpVFTUYRoajdFmOd1KztXkWN0bMkgDC9RKZyR5eSstn443zKFEpQYzi8gIw2H8=&uniplatform=NZKPT&language=CHS&scence=null) |  |
| 3 | 4363 | m.4363T\>C | T4363C\-F3 | China | Hypertension | 4 | 6 | 2015 | [https://next.cnki.net/middle/abstract?v\=x0sJsLzXXbiQyIqAA7PEzwu25oBFo\_0PXF6YWtuPtyGrzafvRkOBOsifUHLDLuDpARCmd8gLKPfulxKyt5vwy5RLj3Xmzha8QDJxunKe6496SFD74TpRtgPUzJOxrKRe8LIhsm0WYib2vMpVFTUYRoajdFmOd1KztXkWN0bMkgDC9RKZyR5eSstn443zKFEpQYzi8gIw2H8\=\&uniplatform\=NZKPT\&language\=CHS\&scence\=null](https://next.cnki.net/middle/abstract?v=x0sJsLzXXbiQyIqAA7PEzwu25oBFo_0PXF6YWtuPtyGrzafvRkOBOsifUHLDLuDpARCmd8gLKPfulxKyt5vwy5RLj3Xmzha8QDJxunKe6496SFD74TpRtgPUzJOxrKRe8LIhsm0WYib2vMpVFTUYRoajdFmOd1KztXkWN0bMkgDC9RKZyR5eSstn443zKFEpQYzi8gIw2H8=&uniplatform=NZKPT&language=CHS&scence=null) |  |
| 4 | 4363 | m.4363T\>C | T4363C\-F4 | China | Hypertension | 7 | 2 | 2015 | [https://next.cnki.net/middle/abstract?v\=x0sJsLzXXbiQyIqAA7PEzwu25oBFo\_0PXF6YWtuPtyGrzafvRkOBOsifUHLDLuDpARCmd8gLKPfulxKyt5vwy5RLj3Xmzha8QDJxunKe6496SFD74TpRtgPUzJOxrKRe8LIhsm0WYib2vMpVFTUYRoajdFmOd1KztXkWN0bMkgDC9RKZyR5eSstn443zKFEpQYzi8gIw2H8\=\&uniplatform\=NZKPT\&language\=CHS\&scence\=null](https://next.cnki.net/middle/abstract?v=x0sJsLzXXbiQyIqAA7PEzwu25oBFo_0PXF6YWtuPtyGrzafvRkOBOsifUHLDLuDpARCmd8gLKPfulxKyt5vwy5RLj3Xmzha8QDJxunKe6496SFD74TpRtgPUzJOxrKRe8LIhsm0WYib2vMpVFTUYRoajdFmOd1KztXkWN0bMkgDC9RKZyR5eSstn443zKFEpQYzi8gIw2H8=&uniplatform=NZKPT&language=CHS&scence=null) |  |

# **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 | 4363 | m.4363T\>C | T4363C\-F1 | T4363C\-F1\-II1 | Fam | M | N | Y | A | 66 | Homo | / | / | / | Metabolic syndrome, Type II diabetes | Carrying C3275T,A8343G |
| 2 | 4363 | m.4363T\>C | T4363C\-F1 | T4363C\-F1\-II3 | Fam | M | N | Y | A | 59 | Homo | / | / | / | Metabolic syndrome, hypertension | Carrying C3275T,A8343G |
| 3 | 4363 | m.4363T\>C | T4363C\-F1 | T4363C\-F1\-II8 | Fam | F | N | Y | A | 55 | Homo | / | / | / | Metabolic syndrome, Type II diabetes | Carrying C3275T,A8343G |
| 4 | 4363 | m.4363T\>C | T4363C\-F1 | T4363C\-F1\-III4 | Fam | F | Y | Y | A | 31 | Homo | / | / | / | Polycystic ovary syndrome | Carrying C3275T,A8343G |
| 5 | 4363 | m.4363T\>C | T4363C\-F2 | T4363C\-F2\-II1 | Fam | M | Y | Y | A | 69 | Homo | / | / | / | Hypertension |  |
| 6 | 4363 | m.4363T\>C | T4363C\-F3 | T4363C\-F3\-II2 | Fam | F | Y | Y | A | 45 | Homo | / | / | / | Hypertension |  |
| 7 | 4363 | m.4363T\>C | T4363C\-F4 | T4363C\-F4\-II2 | Fam | F | Y | Y | A | 45 | Homo | / | / | / | Hypertension |  |

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