A7472C

# **General Information**

| **Position** | **7472** | **Variant** | **m.7472A\>C** | **Locus** | **MT\-TS1** | **RNA** | **tRNA Ser (UCN)** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \+ | **mitoTIP** | 3\.20% | **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.7472A\>C** variant in MT\-TS1 has been reported in 4 pedigrees. To date, 29 carriers have been reported. Homoplasmy was reported in 6/29 carriers (20\.7%), and 10/29 carriers (34\.5%) were affected. The main clinical manifestations among affected carriers included deafness, myopathy, isolated myopathy, mild hearing loss, myoclonus, rapidly progressive neurodegeneration, cerebellar ataxia, diabetes, and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 7472 | m.7472A\>C | A7472C\-F1 | UK | Myoclonus, epilepsy, cerebellar ataxia, progressive hearing loss | ND | ND | 2005 | [15833431](https://pubmed.ncbi.nlm.nih.gov/15833431/) |  |
| 2 | 7472 | m.7472A\>C |[ A7472C\-F2](https://mitofam.com/doc/738/) | UK | Isolated myopathy, exercise intolerance | 5 | 0 | 2005 | [15833431](https://pubmed.ncbi.nlm.nih.gov/15833431/) |  |
| 3 | 7472 | m.7472A\>C |[ A7472C\-F3 ](https://mitofam.com/doc/739/)| Italy | Rapidly progressive neurodegeneration | 4 | 1 | 2006 | [16368237](https://pubmed.ncbi.nlm.nih.gov/16368237/) |  |
| 4 | 7472 | m.7472A\>C | [A7472C\-F4](https://mitofam.com/doc/740/) | UK | Progressive myopathy, deafness, diabetes, respiratory chain abnormalities | 10 | 5 | 2008 | [18398437](https://pubmed.ncbi.nlm.nih.gov/18398437/) | Carrying 7472Cins |

# **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 | 7472 | m.7472A\>C | A7472C\-F1 | A7472C\-F1\-P1 | Uninf | M | Y | Y | A | 12 | 62% | 87% | / | / | Myoclonus, epilepsy, cerebellar ataxia, progressive hearing loss |  |
| 2 | 7472 | m.7472A\>C | A7472C\-F2 | A7472C\-F2\-I2 | Uninf | F | N | N | A | ND | / | / | / | / | Healthy |  |
| 3 | 7472 | m.7472A\>C | A7472C\-F2 | A7472C\-F2\-II3 | Fam | F | N | N | A | ND | 42% | / | / | / | Healthy |  |
| 4 | 7472 | m.7472A\>C | A7472C\-F2 | A7472C\-F2\-II1 | Fam | F | N | N | A | ND | 2\.5% | / | / | / | Healthy |  |
| 5 | 7472 | m.7472A\>C | A7472C\-F2 | A7472C\-F2\-II2 | Fam | F | N | N | A | ND | 1\.6% | / | / | / | Healthy |  |
| 6 | 7472 | m.7472A\>C | A7472C\-F2 | A7472C\-F2\-II5 | Fam | F | N | N | A | ND | 2% | / | / | / | Healthy |  |
| 7 | 7472 | m.7472A\>C | A7472C\-F2 | A7472C\-F2\-III1 | Fam | F | Y | Y | A | 11 | 77% | 91% | / | / | Isolated myopathy, exercise intolerance |  |
| 8 | 7472 | m.7472A\>C | A7472C\-F3 | A7472C\-F3\-I1 | Uninf | F | N | N | A | ND | 94% | / | / | / | Healthy |  |
| 9 | 7472 | m.7472A\>C | A7472C\-F3 | A7472C\-F3\-II1 | Fam | F | N | N | A | ND | 89% | / | / | / | Healthy |  |
| 10 | 7472 | m.7472A\>C | A7472C\-F3 | A7472C\-F3\-II2 | Fam | F | N | N | A | ND | 86% | / | / | / | Healthy |  |
| 11 | 7472 | m.7472A\>C | A7472C\-F3 | A7472C\-F3\-II3 | Fam | F | N | Y | A | ND | 92% | 92% | / | / | Mild hearing loss |  |
| 12 | 7472 | m.7472A\>C | A7472C\-F3 | A7472C\-F3\-III1 | Fam | M | Y | Y | A | 31 | 56% | 56% | / | / | Rapidly progressive neurodegeneration |  |
| 13 | 7472 | m.7472A\>C | A7472C\-F3 | A7472C\-F3\-III2 | Fam | F | N | N | A | ND | 4\.7% | / | / | / | Healthy |  |
| 14 | 7472 | m.7472A\>C | A7472C\-F4 | A7472C\-F4\-I1 | Uninf | F | N | Y | D | 93 | / | / | / | / | Deafness |  |
| 15 | 7472 | m.7472A\>C | A7472C\-F4 | A7472C\-F4\-II1 | Fam | F | N | Y | A | 89 | Homo | / | Homo | / | Deafness | Carrying 7472Cins |
| 16 | 7472 | m.7472A\>C | A7472C\-F4 | A7472C\-F4\-II2 | Fam | F | N | Y | A | 89 | Homo | / | Homo | / | Deafness | Carrying 7472Cins |
| 17 | 7472 | m.7472A\>C | A7472C\-F4 | A7472C\-F4\-II5 | Fam | F | N | Y | A | 52 | Homo | Homo | Homo | / | Myopathy, deafness | Carrying 7472Cins |
| 18 | 7472 | m.7472A\>C | A7472C\-F4 | A7472C\-F4\-III1 | Fam | M | N | N | A | ND | / | / | / | / | Healthy | Carrying 7472Cins |
| 19 | 7472 | m.7472A\>C | A7472C\-F4 | A7472C\-F4\-III2 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | Carrying 7472Cins |
| 20 | 7472 | m.7472A\>C | A7472C\-F4 | A7472C\-F4\-III3 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | Carrying 7472Cins |
| 21 | 7472 | m.7472A\>C | A7472C\-F4 | A7472C\-F4\-III4 | Fam | M | N | N | A | ND | / | / | / | / | Healthy | Carrying 7472Cins |
| 22 | 7472 | m.7472A\>C | A7472C\-F4 | A7472C\-F4\-III5 | Fam | F | N | N | A | 50 | Homo | / | Homo | / | Healthy | Carrying 7472Cins |
| 23 | 7472 | m.7472A\>C | A7472C\-F4 | A7472C\-F4\-III6 | Fam | M | N | Y | D | 30 | Homo | / | Homo | / | Myopathy, deafness, diabetes | Carrying 7472Cins |
| 24 | 7472 | m.7472A\>C | A7472C\-F4 | A7472C\-F4\-III7 | Fam | F | Y | Y | A | 43 | Homo | Homo | Homo | Homo (F), Homo (BM) | Myopathy, deafness | Carrying 7472Cins |
| 25 | 7472 | m.7472A\>C | A7472C\-F4 | A7472C\-F4\-IV1 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | Carrying 7472Cins |
| 26 | 7472 | m.7472A\>C | A7472C\-F4 | A7472C\-F4\-IV2 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | Carrying 7472Cins |
| 27 | 7472 | m.7472A\>C | A7472C\-F4 | A7472C\-F4\-IV3 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | Carrying 7472Cins |
| 28 | 7472 | m.7472A\>C | A7472C\-F4 | A7472C\-F4\-V1 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | Carrying 7472Cins |
| 29 | 7472 | m.7472A\>C | A7472C\-F4 | A7472C\-F4\-V2 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | Carrying 7472Cins |

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