G3481A

# **General Information**

| **Position** | **3481** | **Variant** | **m.3481G\>A** | **Locus** | **MT\-ND1** | **Amino\-AcidChange** | **E59K** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **APOGEE2** | Likely\-pathogenic | **Pathogenicity** | Cfrm \[LP] |

"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.3481G\>A** variant in MT\-ND1 has been reported in 2 pedigrees. To date, 5 carriers have been reported. Reported mutation loads ranged from 12% to 80%, with a median of 52\.5% overall; affected carriers showed mutation loads from 12% to 80%, with a median of 52\.5%. In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in muscle (36%) than in fibroblasts (12%). The main clinical manifestations among affected carriers included hypertrophic heart disease and mitochondrial encephalopathy.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3481 | m.3481G\>A | [G3481A\-F1 ](https://mitofam.com/doc/1430/)| Italy | Mitochondrial encephalopathy | 7 | 0 | 2007 | [17535832](https://pubmed.ncbi.nlm.nih.gov/17535832/) |  |
| 2 | 3481 | m.3481G\>A | G3481A\-F2 | Sweden | Hypertrophic heart disease | 0 | 0 | 2008 | [18504678](https://pubmed.ncbi.nlm.nih.gov/18504678/) |  |

# **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 | 3481 | m.3481G\>A | G3481A\-F1 | G3481A\-F1\-II3 | Uninf | F | N | N | A | ND | / | / | / | / | healthy |  |
| 2 | 3481 | m.3481G\>A | G3481A\-F1 | G3481A\-F1\-II5 | Uninf | F | N | N | A | ND | / | / | / | / | healthy |  |
| 3 | 3481 | m.3481G\>A | G3481A\-F1 | G3481A\-F1\-III1 | Uninf | M | N | N | A | ND | / | / | / | / | healthy |  |
| 4 | 3481 | m.3481G\>A | G3481A\-F1 | G3481A\-F1\-III3 | Fam | M | Y | Y | A | 8 | / | 80% | 80% | 50% (F), 55% (lymph) | Mitochondrial encephalopathy |  |
| 5 | 3481 | m.3481G\>A | G3481A\-F2 | G3481A\-F2\-I1 | De novo | F | Y | Y | D | 11 | / | 36% | / | 12% (F) | Hypertrophic heart disease |  |

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