C12224T

# **General Information**

| **Position** | **12224** | **Variant** | **m.12224C\>T** | **Locus** | **MT\-TS2** | **RNA** | **tRNA Ser (AGY)** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **mitoTIP** | 30\.40% | **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.12224C\>T** variant in MT\-TS2 has been reported in 1 pedigree. To date, 15 carriers have been reported. Homoplasmy was reported in 15/15 carriers (100%), and 8/15 carriers (53\.3%) were affected. The main clinical manifestations among affected carriers included deafness.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 12224 | m.12224C\>T | [C12224T\-F1](https://mitofam.com/doc/721/) | China | Deafness | 7 | 7 | 2010 | [19818876](https://pubmed.ncbi.nlm.nih.gov/19818876/) | Carrying A1555G |

# **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 | 12224 | m.12224C\>T | C12224T\-F1 | C12224T\-F1\-I2 | Uninf | F | N | Y | A | ND | Homo | / | / | / | Deafness | Carrying A1555G |
| 2 | 12224 | m.12224C\>T | C12224T\-F1 | C12224T\-F1\-II2 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | Carrying A1556G |
| 3 | 12224 | m.12224C\>T | C12224T\-F1 | C12224T\-F1\-II3 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | Carrying A1557G |
| 4 | 12224 | m.12224C\>T | C12224T\-F1 | C12224T\-F1\-II5 | Fam | F | N | Y | A | ND | Homo | / | / | / | Deafness | Carrying A1558G |
| 5 | 12224 | m.12224C\>T | C12224T\-F1 | C12224T\-F1\-II7 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | Carrying A1559G |
| 6 | 12224 | m.12224C\>T | C12224T\-F1 | C12224T\-F1\-II9 | Fam | F | N | Y | A | ND | Homo | / | / | / | Deafness | Carrying A1560G |
| 7 | 12224 | m.12224C\>T | C12224T\-F1 | C12224T\-F1\-III1 | Fam | M | Y | Y | A | ND | Homo | / | / | / | Deafness | Carrying A1561G |
| 8 | 12224 | m.12224C\>T | C12224T\-F1 | C12224T\-F1\-III2 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | Carrying A1562G |
| 9 | 12224 | m.12224C\>T | C12224T\-F1 | C12224T\-F1\-III3 | Fam | F | N | Y | A | ND | Homo | / | / | / | Deafness | Carrying A1563G |
| 10 | 12224 | m.12224C\>T | C12224T\-F1 | C12224T\-F1\-III4 | Fam | M | N | N | A | ND | Homo | / | / | / | Healthy | Carrying A1564G |
| 11 | 12224 | m.12224C\>T | C12224T\-F1 | C12224T\-F1\-III5 | Fam | M | N | Y | A | ND | Homo | / | / | / | Deafness | Carrying A1565G |
| 12 | 12224 | m.12224C\>T | C12224T\-F1 | C12224T\-F1\-III6 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | Carrying A1566G |
| 13 | 12224 | m.12224C\>T | C12224T\-F1 | C12224T\-F1\-III7 | Fam | M | N | Y | A | ND | Homo | / | / | / | Deafness | Carrying A1567G |
| 14 | 12224 | m.12224C\>T | C12224T\-F1 | C12224T\-F1\-III8 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | Carrying A1568G |
| 15 | 12224 | m.12224C\>T | C12224T\-F1 | C12224T\-F1\-III9 | Fam | F | N | Y | A | ND | Homo | / | / | / | Deafness | Carrying A1569G |

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