G15077A

# **General Information**

| **Position** | **15077** | **Variant** | **m.15077G\>A** | **Locus** | **MT\-CYB** | **Amino\-AcidChange** | **E111K** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **APOGEE2** | Likely\-benign | **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.15077G\>A** variant in MT\-CYB has been reported in 1 pedigree. To date, 9 carriers have been reported. Homoplasmy was reported in 9/9 carriers (100%), and 8/9 carriers (88\.9%) were affected. The main clinical manifestations among affected carriers included essential hypertension, hyperlipidemia, cerebral infarction, hypertension, abnormal muscle metabolism, aortic valve calcification, left ventricular dysfunction, and renal calcification.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 15077 | m.15077G\>A | [G15077A\-F1](https://mitofam.com/doc/1937/) | China | Cerebral infarction, hypertension, hyperlipidemia, abnormal muscle metabolism, aortic valve calcification, left ventricular dysfunction | 1 | 7 | 2022 | [34346491](https://pubmed.ncbi.nlm.nih.gov/34346491/) | Co\-occurring m.15992A\>G. |

# **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 | 15077 | m.15077G\>A | G15077A\-F1 | G15077A\-F1\-I2 | Uninf | F | N | Y | D | ND | Homo | / | / | / | Cerebral infarction | Co\-occurring m.15992A\>G. |
| 2 | 15077 | m.15077G\>A | G15077A\-F1 | G15077A\-F1\-II1 | Fam | M | N | Y | A | 68 | Homo | / | / | / | Essential hypertension, hyperlipidemia | Co\-occurring m.15992A\>G. |
| 3 | 15077 | m.15077G\>A | G15077A\-F1 | G15077A\-F1\-II3 | Fam | F | N | Y | A | 65 | Homo | / | / | / | Essential hypertension, hyperlipidemia | Co\-occurring m.15992A\>G. |
| 4 | 15077 | m.15077G\>A | G15077A\-F1 | G15077A\-F1\-II5 | Fam | F | Y | Y | A | 63 | Homo | / | / | / | Hypertension, abnormal muscle metabolism, aortic valve calcification, left ventricular dysfunction, cerebral infarction | Co\-occurring m.15992A\>G. |
| 5 | 15077 | m.15077G\>A | G15077A\-F1 | G15077A\-F1\-II7 | Fam | M | N | Y | A | 58 | Homo | / | / | / | Essential hypertension | Co\-occurring m.15992A\>G. |
| 6 | 15077 | m.15077G\>A | G15077A\-F1 | G15077A\-F1\-III3 | Fam | F | N | Y | A | 42 | Homo | / | / | / | Essential hypertension, hyperlipidemia, renal calcification | Co\-occurring m.15992A\>G. |
| 7 | 15077 | m.15077G\>A | G15077A\-F1 | G15077A\-F1\-III4 | Fam | M | N | N | A | 40 | Homo | / | / | / | Hyperlipidemia | Co\-occurring m.15992A\>G. |
| 8 | 15077 | m.15077G\>A | G15077A\-F1 | G15077A\-F1\-III5 | Fam | M | N | Y | A | 42 | Homo | / | / | / | Essential hypertension, hyperlipidemia | Co\-occurring m.15992A\>G. |
| 9 | 15077 | m.15077G\>A | G15077A\-F1 | G15077A\-F1\-III6 | Fam | F | N | Y | A | 40 | Homo | / | / | / | Essential hypertension, hyperlipidemia | Co\-occurring m.15992A\>G. |

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