A4401G

# **General Information**

| **Position** | **4401** | **Variant** | **m.4401A\>G** | **Locus** | **MT\-NC2** | **RNA** | **NC2 Gln\-Met spacer** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **mitoTIP** | N/A | **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.4401A\>G** variant in MT\-NC2 has been reported in 2 pedigrees. To date, 8 carriers have been reported. Homoplasmy was reported in 7/8 carriers (87\.5%), and 6/8 carriers (75%) were affected. The main clinical manifestations among affected carriers included essential hypertension, hypertension and LVH, 110 mm Hg., blood pressure 140, headache., 95 mm Hg., blood pressure 180, and dizziness and fainting..

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 4401 | m.4401A\>G | [A4401G\-F1 ](https://mitofam.com/doc/990/)| Chinese | Hypertension\+Left ventricular hypertrophy | 2 | 2 | 2009 | [18701880](https://pubmed.ncbi.nlm.nih.gov/18701880/) |  |
| 2 | 4401 | m.4401A\>G | [A4401G\-F2 ](https://mitofam.com/doc/991/)| Chinese | Hypertension | 0 | 2 | 2009 | [19546379](https://pubmed.ncbi.nlm.nih.gov/19546379/) |  |

# **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 | 4401 | m.4401A\>G | A4401G\-F1 | A4401G\-F1\-I\-2 | Uninf | F | Y | Y | A | 64 | Homo | / | / | / | Hypertension and LVH; dizziness and fainting. |  |
| 2 | 4401 | m.4401A\>G | A4401G\-F1 | A4401G\-F1\-II\-1 | Fam | M | N | Y | A | ND | 60% | / | / | / | Hypertension and LVH; headache. |  |
| 3 | 4401 | m.4401A\>G | A4401G\-F1 | A4401G\-F1\-II\-4 | Fam | F | N | N | A | ND | Homo | / | / | / | Asymptomatic molecular\-positive maternal relative. |  |
| 4 | 4401 | m.4401A\>G | A4401G\-F1 | A4401G\-F1\-II\-5 | Fam | M | N | Y | A | 17 | Homo | / | / | / | Hypertension and LVH; headache. |  |
| 5 | 4401 | m.4401A\>G | A4401G\-F1 | A4401G\-F1\-III\-2 | Fam | M | N | N | A | ND | Homo | / | / | / | Asymptomatic molecular\-positive maternal relative. |  |
| 6 | 4401 | m.4401A\>G | A4401G\-F2 | A4401G\-F2\-II\-1 | Uninf | F | Y | Y | A | 65 | Homo | / | / | / | Essential hypertension; blood pressure 180/110 mm Hg. |  |
| 7 | 4401 | m.4401A\>G | A4401G\-F2 | A4401G\-F2\-III\-3 | Fam | M | N | Y | A | 41 | Homo | / | / | / | Essential hypertension; blood pressure 140/110 mm Hg. |  |
| 8 | 4401 | m.4401A\>G | A4401G\-F2 | A4401G\-F2\-III\-5 | Fam | M | N | Y | A | 37 | Homo | / | / | / | Essential hypertension; blood pressure 140/95 mm Hg. |  |

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