G3733A

# **General Information**

| **Position** | **3733** | **Variant** | **m.3733G\>A** | **Locus** | **MT\-ND1** | **Amino\-AcidChange** | **E143K** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \+ | **APOGEE2** | Pathogenic | **Pathogenicity** | Cfrm \[VUS\*] |

"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.3733G\>A** variant in MT\-ND1 has been reported in 2 pedigrees. To date, 17 carriers have been reported. Homoplasmy was reported in 14/17 carriers (82\.4%), and 7/17 carriers (41\.2%) were affected. The main clinical manifestations among affected carriers included LHON, lHON by family history, and onset at 65 years.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3733 | m.3733G\>A | [G3733A\-F1](https://mitofam.com/doc/1454/) | Italy | LHON | 1 | 0 | 2004 | [15505787](https://pubmed.ncbi.nlm.nih.gov/15505787/) | Fig 1A (Family 1\) |
| 2 | 3733 | m.3733G\>A |[ G3733A\-F2](https://mitofam.com/doc/1455/) | Italy | LHON | 9 | 5 | 2004 | [15505787](https://pubmed.ncbi.nlm.nih.gov/15505787/) | Fig 2A (Family 2\) |

# **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 | 3733 | m.3733G\>A | G3733A\-F1 | G3733A\-F1\-III2 | Fam | F | N | N | A | ND | 31% | / | / | / | Healthy |  |
| 2 | 3733 | m.3733G\>A | G3733A\-F1 | G3733A\-F1\-IV1 | Fam | M | Y | Y | A | ND | Homo | / | / | / | LHON |  |
| 3 | 3733 | m.3733G\>A | G3733A\-F2 | G3733A\-F2\-II2 | Fam | F | N | Y | A | ND | Homo | / | / | / | LHON by family history, onset at 65 years | PMID 15505787 Fig 2A (Family 2\) |
| 4 | 3733 | m.3733G\>A | G3733A\-F2 | G3733A\-F2\-III2 | Fam | F | N | Y | A | 70 | Homo | / | / | / | LHON | PMID 15505787 Fig 2A (Family 2\) |
| 5 | 3733 | m.3733G\>A | G3733A\-F2 | G3733A\-F2\-III3 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | PMID 15505787 Fig 2A (Family 2\) |
| 6 | 3733 | m.3733G\>A | G3733A\-F2 | G3733A\-F2\-III5 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | PMID 15505787 Fig 2A (Family 2\) |
| 7 | 3733 | m.3733G\>A | G3733A\-F2 | G3733A\-F2\-III6 | Fam | M | Y | Y | A | 61 | Homo | / | / | / | LHON | PMID 15505787 Fig 2A (Family 2\) |
| 8 | 3733 | m.3733G\>A | G3733A\-F2 | G3733A\-F2\-III10 | Fam | M | N | N | A | ND | Homo | / | / | / | Healthy | PMID 15505787 Fig 2A (Family 2\) |
| 9 | 3733 | m.3733G\>A | G3733A\-F2 | G3733A\-F2\-III13 | Fam | F | N | N | A | ND | 41% | / | / | / | Healthy | PMID 15505787 Fig 2A (Family 2\) |
| 10 | 3733 | m.3733G\>A | G3733A\-F2 | G3733A\-F2\-IV1 | Fam | M | N | Y | A | 45 | Homo | / | / | / | LHON | PMID 15505787 Fig 2A (Family 2\) |
| 11 | 3733 | m.3733G\>A | G3733A\-F2 | G3733A\-F2\-IV3 | Fam | M | N | Y | A | 42 | Homo | / | / | / | LHON | PMID 15505787 Fig 2A (Family 2\) |
| 12 | 3733 | m.3733G\>A | G3733A\-F2 | G3733A\-F2\-IV4 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | PMID 15505787 Fig 2A (Family 2\) |
| 13 | 3733 | m.3733G\>A | G3733A\-F2 | G3733A\-F2\-IV6 | Fam | F | N | Y | A | 39 | Homo | / | / | / | LHON | PMID 15505787 Fig 2A (Family 2\) |
| 14 | 3733 | m.3733G\>A | G3733A\-F2 | G3733A\-F2\-IV7 | Fam | M | N | N | A | ND | Homo | / | / | / | Healthy | PMID 15505787 Fig 2A (Family 2\) |
| 15 | 3733 | m.3733G\>A | G3733A\-F2 | G3733A\-F2\-IV14 | Fam | M | N | N | A | ND | 14% | / | / | / | Healthy | PMID 15505787 Fig 2A (Family 2\) |
| 16 | 3733 | m.3733G\>A | G3733A\-F2 | G3733A\-F2\-V4 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | PMID 15505787 Fig 2A (Family 2\) |
| 17 | 3733 | m.3733G\>A | G3733A\-F2 | G3733A\-F2\-V5 | Fam | M | N | N | A | ND | Homo | / | / | / | Healthy | PMID 15505787 Fig 2A (Family 2\) |

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