G3890A

# General Information

| **Position** | **3890** | **Variant** | **m.3890G\>A** | **Locus** | **MT\-ND1** | **Amino\-AcidChange** | **R195Q** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **APOGEE2** | 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.3890G\>A** variant in MT\-ND1 has been reported in 5 pedigrees. To date, 10 carriers have been reported. Reported mutation loads ranged from 2\.5% to 100%, with a median of 52\.3% overall; affected carriers showed mutation loads from 26\.6% to 100%, with a median of 67\.1%; unaffected carriers showed mutation loads from 2\.5% to 55%, with a median of 7\.9%. In one unaffected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in urine (55%) than in blood (5%). In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in muscle (100%) and urine (75%) than in blood (35%). Similar tissue\-specific differences were observed in 1 additional carriers. The main clinical manifestations among affected carriers included classical LHON, lHON with onset at 15 years and partial visual recovery, lHON\-like bilateral vision loss at 12 years, lHON\-like optic atrophy, leigh syndrome, leigh\-like MRI lesions, optic atrophy with bilateral brainstem lesions, axonal polyneuropathy, and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3890 | m.3890G\>A | G3890A\-F1 | Sweden | Leigh syndrome | 0 | 0 | 2008 | [18504678](https://pubmed.ncbi.nlm.nih.gov/18504678/) |  |
| 2 | 3890 | m.3890G\>A | G3890A\-F2 | Italy | Optic atrophy with bilateral brainstem lesions | 2 | 0 | 2013 | [23246842](https://pubmed.ncbi.nlm.nih.gov/23246842/) |  |
| 3 | 3890 | m.3890G\>A | G3890A\-F3 | Italy | LHON\-like optic atrophy / Leigh\-like syndrome | 0 | 0 | 2021 | [34390870](https://pubmed.ncbi.nlm.nih.gov/34390870/) |  |
| 4 | 3890 | m.3890G\>A | [G3890A\-F4](https://mitofam.com/doc/1457/) | Italy | LHON | 0 | 1 | 2021 | [34390870](https://pubmed.ncbi.nlm.nih.gov/34390870/) |  |
| 5 | 3890 | m.3890G\>A | [G3890A\-F5](https://mitofam.com/doc/1458/) | USA | LHON | 3 | 0 | 2021 | [34390870](https://pubmed.ncbi.nlm.nih.gov/34390870/) |  |

# 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 | 3890 | m.3890G\>A | G3890A\-F1 | G3890A\-F1\-II1 | De novo | F | Y | Y | D | 2 | / | 95% | / | / | Leigh syndrome |  |
| 2 | 3890 | m.3890G\>A | G3890A\-F2 | G3890A\-F2\-I2 | Uninf | F | N | N | A | ND | 5% | / | 55% | / | healthy |  |
| 3 | 3890 | m.3890G\>A | G3890A\-F2 | G3890A\-F2\-II1 | Fam | M | Y | Y | A | 35 | 35% | 1 | 75% | 50% (F) | Optic atrophy with bilateral brainstem lesions |  |
| 4 | 3890 | m.3890G\>A | G3890A\-F3 | G3890A\-F3\-I1 | Uninf | M | Y | Y | D | 25 | 54\.6% | 99\.9% | / | / | LHON\-like optic atrophy, axonal polyneuropathy, gaze palsy, parkinsonism, Leigh\-like MRI lesions | Died suddenly at 51\. |
| 5 | 3890 | m.3890G\>A | G3890A\-F4 | G3890A\-F4\-I1 | Uninf | F | Y | Y | A | 65 | 26\.6% | / | 82\.7% | / | Classical LHON |  |
| 6 | 3890 | m.3890G\>A | G3890A\-F4 | G3890A\-F4\-II1 | Fam | F | N | Y | A | 35 | 43\.9% | / | / | / | LHON\-like bilateral vision loss at 12 years |  |
| 7 | 3890 | m.3890G\>A | G3890A\-F5 | G3890A\-F5\-I1 | Uninf | F | N | N | A | 44 | 13\.1% | / | / | / | Healthy |  |
| 8 | 3890 | m.3890G\>A | G3890A\-F5 | G3890A\-F5\-II1 | Fam | M | Y | Y | A | 17 | 67\.1% | / | / | / | LHON with onset at 15 years and partial visual recovery |  |
| 9 | 3890 | m.3890G\>A | G3890A\-F5 | G3890A\-F5\-II2 | Fam | M | N | N | A | 14 | 7\.9% | / | / | / | Healthy |  |
| 10 | 3890 | m.3890G\>A | G3890A\-F5 | G3890A\-F5\-II3 | Fam | F | N | N | A | 10 | 2\.5% | / | / | / | Healthy |  |

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