A4263G

# General Information

| **Position** | **4263** | **Variant** | **m.4263A\>G** | **Locus** | **MT\-TI** | **RNA** | **tRNA Ile** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **mitoTIP** | 67\.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.4263A\>G** variant in MT\-TI has been reported in 2 pedigrees. To date, 38 carriers have been reported. Homoplasmy was reported in 38/38 carriers (100%), and 23/38 carriers (60\.5%) were affected. The main clinical manifestations among affected carriers included essential hypertension.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 4263 | m.4263A\>G | [A4263G\-F1 ](https://mitofam.com/doc/597/)| China | Essential hypertension | 11 | 14 | 2011 | [21454794](https://pubmed.ncbi.nlm.nih.gov/21454794/) |  |
| 2 | 4263 | m.4263A\>G | [A4263G\-F2 ](https://mitofam.com/doc/598/)| China | Essential hypertension | 3 | 7 | 2008 | [https://kns.cnki.net/kcms2/article/abstract?v\=zO3wb1M9ekwKv4DSKxrru7xQmG9hpzJIuyvii0xZz3NiJ3adhRQTeOMFaWx7TI8K3q064j\-N\_\_Dj1hYwtp2wW6YZIzT2mXNYyGIyrAmGT2lWdoKkCUIPdy1xx14M0hjrh3MLIKprndC59y7rWZyhrM4pmKDPnEjQQQ98fbmjObs\=\&uniplatform\=NZKPT](https://kns.cnki.net/kcms2/article/abstract?v=zO3wb1M9ekwKv4DSKxrru7xQmG9hpzJIuyvii0xZz3NiJ3adhRQTeOMFaWx7TI8K3q064j-N__Dj1hYwtp2wW6YZIzT2mXNYyGIyrAmGT2lWdoKkCUIPdy1xx14M0hjrh3MLIKprndC59y7rWZyhrM4pmKDPnEjQQQ98fbmjObs=&uniplatform=NZKPT) |  |

# 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 | 4263 | m.4263A\>G | A4263G\-F1 | A4263G\-F1\-I2 | Uninf | F | N | Y | D | ND | Homo | / | / | / | Essential hypertension |  |
| 2 | 4263 | m.4263A\>G | A4263G\-F1 | A4263G\-F1\-II2 | Fam | F | N | Y | A | 79 | Homo | / | / | / | Essential hypertension |  |
| 3 | 4263 | m.4263A\>G | A4263G\-F1 | A4263G\-F1\-II4 | Fam | F | N | Y | A | 72 | Homo | / | / | / | Essential hypertension |  |
| 4 | 4263 | m.4263A\>G | A4263G\-F1 | A4263G\-F1\-II5 | Fam | M | N | Y | A | 82 | Homo | / | / | / | Essential hypertension |  |
| 5 | 4263 | m.4263A\>G | A4263G\-F1 | A4263G\-F1\-II7 | Fam | M | N | Y | A | 68 | Homo | / | / | / | Essential hypertension |  |
| 6 | 4263 | m.4263A\>G | A4263G\-F1 | A4263G\-F1\-III2 | Fam | F | N | Y | A | 54 | Homo | / | / | / | Essential hypertension |  |
| 7 | 4263 | m.4263A\>G | A4263G\-F1 | A4263G\-F1\-III4 | Fam | F | N | Y | A | 48 | Homo | / | / | / | Essential hypertension |  |
| 8 | 4263 | m.4263A\>G | A4263G\-F1 | A4263G\-F1\-III5 | Fam | M | N | N | A | 42 | Homo | / | / | / | Healthy |  |
| 9 | 4263 | m.4263A\>G | A4263G\-F1 | A4263G\-F1\-III7 | Fam | M | N | N | A | 44 | Homo | / | / | / | Healthy |  |
| 10 | 4263 | m.4263A\>G | A4263G\-F1 | A4263G\-F1\-III9 | Fam | M | N | Y | A | 40 | Homo | / | / | / | Essential hypertension |  |
| 11 | 4263 | m.4263A\>G | A4263G\-F1 | A4263G\-F1\-III11 | Fam | M | N | Y | A | 56 | Homo | / | / | / | Essential hypertension |  |
| 12 | 4263 | m.4263A\>G | A4263G\-F1 | A4263G\-F1\-III14 | Fam | F | Y | Y | A | 48 | Homo | / | / | / | Essential hypertension |  |
| 13 | 4263 | m.4263A\>G | A4263G\-F1 | A4263G\-F1\-III16 | Fam | F | N | N | A | 45 | Homo | / | / | / | Healthy |  |
| 14 | 4263 | m.4263A\>G | A4263G\-F1 | A4263G\-F1\-III18 | Fam | F | N | Y | A | 52 | Homo | / | / | / | Essential hypertension |  |
| 15 | 4263 | m.4263A\>G | A4263G\-F1 | A4263G\-F1\-III19 | Fam | M | N | N | A | 33 | Homo | / | / | / | Healthy |  |
| 16 | 4263 | m.4263A\>G | A4263G\-F1 | A4263G\-F1\-IV1 | Fam | F | N | Y | A | 31 | Homo | / | / | / | Essential hypertension |  |
| 17 | 4263 | m.4263A\>G | A4263G\-F1 | A4263G\-F1\-IV3 | Fam | F | N | Y | A | 26 | Homo | / | / | / | Essential hypertension |  |
| 18 | 4263 | m.4263A\>G | A4263G\-F1 | A4263G\-F1\-IV5 | Fam | M | N | Y | A | 25 | Homo | / | / | / | Essential hypertension |  |
| 19 | 4263 | m.4263A\>G | A4263G\-F1 | A4263G\-F1\-IV6 | Fam | M | N | N | A | 24 | Homo | / | / | / | Healthy |  |
| 20 | 4263 | m.4263A\>G | A4263G\-F1 | A4263G\-F1\-IV7 | Fam | M | N | Y | A | 23 | Homo | / | / | / | Essential hypertension |  |
| 21 | 4263 | m.4263A\>G | A4263G\-F1 | A4263G\-F1\-IV8 | Fam | F | N | N | A | 21 | Homo | / | / | / | Healthy |  |
| 22 | 4263 | m.4263A\>G | A4263G\-F1 | A4263G\-F1\-IV21 | Fam | F | N | N | A | 24 | Homo | / | / | / | Healthy |  |
| 23 | 4263 | m.4263A\>G | A4263G\-F1 | A4263G\-F1\-IV22 | Fam | F | N | N | A | 18 | Homo | / | / | / | Healthy |  |
| 24 | 4263 | m.4263A\>G | A4263G\-F1 | A4263G\-F1\-IV23 | Fam | M | N | N | A | 25 | Homo | / | / | / | Healthy |  |
| 25 | 4263 | m.4263A\>G | A4263G\-F1 | A4263G\-F1\-V1 | Fam | M | N | N | A | 5 | Homo | / | / | / | Healthy |  |
| 26 | 4263 | m.4263A\>G | A4263G\-F1 | A4263G\-F1\-V2 | Fam | M | N | N | A | 6 | Homo | / | / | / | Healthy |  |
| 27 | 4263 | m.4263A\>G | A4263G\-F1 | A4263G\-F1\-V3 | Fam | F | N | N | A | 4 | Homo | / | / | / | Healthy |  |
| 28 | 4263 | m.4263A\>G | A4263G\-F2 | A4263G\-F2\-I2 | Uninf | F | N | Y | A | ND | Homo | / | / | / | Essential hypertension |  |
| 29 | 4263 | m.4263A\>G | A4263G\-F2 | A4263G\-F2\-II1 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 30 | 4263 | m.4263A\>G | A4263G\-F2 | A4263G\-F2\-II3 | Fam | F | N | Y | A | ND | Homo | / | / | / | Essential hypertension |  |
| 31 | 4263 | m.4263A\>G | A4263G\-F2 | A4263G\-F2\-II5 | Fam | M | Y | Y | A | ND | Homo | / | / | / | Essential hypertension |  |
| 32 | 4263 | m.4263A\>G | A4263G\-F2 | A4263G\-F2\-II8 | Fam | F | N | Y | A | ND | Homo | / | / | / | Essential hypertension |  |
| 33 | 4263 | m.4263A\>G | A4263G\-F2 | A4263G\-F2\-II9 | Fam | M | N | Y | A | ND | Homo | / | / | / | Essential hypertension |  |
| 34 | 4263 | m.4263A\>G | A4263G\-F2 | A4263G\-F2\-III1 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 35 | 4263 | m.4263A\>G | A4263G\-F2 | A4263G\-F2\-III3 | Fam | F | N | Y | A | ND | Homo | / | / | / | Essential hypertension |  |
| 36 | 4263 | m.4263A\>G | A4263G\-F2 | A4263G\-F2\-III8 | Fam | F | N | Y | A | ND | Homo | / | / | / | Essential hypertension |  |
| 37 | 4263 | m.4263A\>G | A4263G\-F2 | A4263G\-F2\-IV1 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 38 | 4263 | m.4263A\>G | A4263G\-F2 | A4263G\-F2\-IV3 | Fam | M | N | Y | A | ND | Homo | / | / | / | Essential hypertension |  |

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