A7551G

# **General Information**

| **Position** | **7551** | **Variant** | **m.7551A\>G** | **Locus** | **MT\-TD** | **RNA** | **tRNA Asp** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **mitoTIP** | 28\.90% | **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.7551A\>G** variant in MT\-TD has been reported in 1 pedigree. To date, 12 carriers have been reported. Homoplasmy was reported in 12/12 carriers (100%), and 6/12 carriers (50%) 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 | 7551 | m.7551A\>G | [A7551G\-F1](https://mitofam.com/doc/567/) | China | Deafness | 3 | 5 | 2019 | [30592262](https://pubmed.ncbi.nlm.nih.gov/30592262/) | 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 | 7551 | m.7551A\>G | A7551G\-F1 | A7551G\-F1\-III12 | Fam | M | Y | Y | A | 35 | Homo | Homo | Homo | / | Deafness | Carrying A1555G |
| 2 | 7551 | m.7551A\>G | A7551G\-F1 | A7551G\-F1\-II4 | Fam | F | N | Y | A | 68 | Homo | Homo | Homo | / | Deafness | Carrying A1555G |
| 3 | 7551 | m.7551A\>G | A7551G\-F1 | A7551G\-F1\-II6 | Fam | F | N | Y | A | 59 | Homo | Homo | Homo | / | Deafness | Carrying A1555G |
| 4 | 7551 | m.7551A\>G | A7551G\-F1 | A7551G\-F1\-II8 | Fam | F | N | Y | A | 61 | Homo | Homo | Homo | / | Deafness | Carrying A1555G |
| 5 | 7551 | m.7551A\>G | A7551G\-F1 | A7551G\-F1\-III10 | Fam | F | N | Y | A | 33 | Homo | Homo | Homo | / | Deafness | Carrying A1555G |
| 6 | 7551 | m.7551A\>G | A7551G\-F1 | A7551G\-F1\-IV6 | Fam | F | N | Y | A | 8 | Homo | Homo | Homo | / | Deafness | Carrying A1555G |
| 7 | 7551 | m.7551A\>G | A7551G\-F1 | A7551G\-F1\-IV5 | Fam | M | N | N | A | ND | Homo | Homo | Homo | / | Healthy | Carrying A1555G |
| 8 | 7551 | m.7551A\>G | A7551G\-F1 | A7551G\-F1\-I2 | Fam | F | N | N | D | ND | Homo | Homo | Homo | / | Healthy | Carrying A1555G |
| 9 | 7551 | m.7551A\>G | A7551G\-F1 | A7551G\-F1\-II1 | Fam | M | N | N | A | ND | Homo | Homo | Homo | / | Healthy | Carrying A1555G |
| 10 | 7551 | m.7551A\>G | A7551G\-F1 | A7551G\-F1\-III5 | Fam | M | N | N | A | ND | Homo | Homo | Homo | / | Healthy | Carrying A1555G |
| 11 | 7551 | m.7551A\>G | A7551G\-F1 | A7551G\-F1\-III8 | Fam | F | N | N | A | ND | Homo | Homo | Homo | / | Healthy | Carrying A1555G |
| 12 | 7551 | m.7551A\>G | A7551G\-F1 | A7551G\-F1\-III11 | Fam | M | N | N | A | ND | Homo | Homo | Homo | / | Healthy | Carrying A1555G |

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