G3635A

# General Information

| **Position** | **3635** | **Variant** | **m.3635G\>A** | **Locus** | **MT\-ND1** | **Amino\-AcidChange** | **S110N** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **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.3635G\>A** variant in MT\-ND1 has been reported in 17 pedigrees. To date, 18 carriers have been reported. Homoplasmy was reported in 17/18 carriers (94\.4%), and 18/18 carriers (100%) were affected. The main clinical manifestations among affected carriers included LHON, mild recovery, profound worst, profound recovery, severe worst, moderate worst, severe recovery, and unilateral reported.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3635 | m.3635G\>A | [G3635A\-F1](https://mitofam.com/doc/1432/) | China | LHON | 6 | 1 | 2010 | [21074518](https://pubmed.ncbi.nlm.nih.gov/21074518/) | Source family Le0131 |
| 2 | 3635 | m.3635G\>A | [G3635A\-F2 ](https://mitofam.com/doc/1433/)| China | LHON | 2 | 1 | 2010 | [21074518](https://pubmed.ncbi.nlm.nih.gov/21074518/) | Source family Le0329 |
| 3 | 3635 | m.3635G\>A | G3635A\-F3 | China | LHON | 0 | 0 | 2010 | [21074518](https://pubmed.ncbi.nlm.nih.gov/21074518/) | Source singleton Le0337 |
| 4 | 3635 | m.3635G\>A | [G3635A\-F4](https://mitofam.com/doc/1434/) | China | LHON | 7 | 0 | 2010 | [21074518](https://pubmed.ncbi.nlm.nih.gov/21074518/) | Source family Le0569 |
| 5 | 3635 | m.3635G\>A | [G3635A\-F5](https://mitofam.com/doc/1435/) | China | LHON | 2 | 1 | 2010 | [21074518](https://pubmed.ncbi.nlm.nih.gov/21074518/) | Source family Le0834 |
| 6 | 3635 | m.3635G\>A | G3635A\-F6 | China | LHON | 0 | 0 | 2010 | [21074518](https://pubmed.ncbi.nlm.nih.gov/21074518/) | Source singleton Le0576 |
| 7 | 3635 | m.3635G\>A | [G3635A\-F7 ](https://mitofam.com/doc/1436/)| China | LHON | 5 | 1 | 2010 | [21074518](https://pubmed.ncbi.nlm.nih.gov/21074518/) | Source family Le1143 |
| 8 | 3635 | m.3635G\>A | [G3635A\-F8](https://mitofam.com/doc/1437/) | China | LHON | 7 | 0 | 2010 | [21074518](https://pubmed.ncbi.nlm.nih.gov/21074518/) | Source family Le1146 |
| 9 | 3635 | m.3635G\>A | [G3635A\-F9](https://mitofam.com/doc/1438/) | China | LHON | 12 | 5 | 2014 | [25194554](https://pubmed.ncbi.nlm.nih.gov/25194554/) | Pedigree WZ513; haplogroup G2a1 |
| 10 | 3635 | m.3635G\>A | [G3635A\-F10 ](https://mitofam.com/doc/1439/)| China | LHON | 15 | 11 | 2014 | [25194554](https://pubmed.ncbi.nlm.nih.gov/25194554/) | Pedigree WZ514; haplogroup R11a |
| 11 | 3635 | m.3635G\>A |[ G3635A\-F11](https://mitofam.com/doc/1440/) | China | LHON | 12 | 5 | 2014 | [25194554](https://pubmed.ncbi.nlm.nih.gov/25194554/) | Pedigree WZ515; haplogroup D4 |
| 12 | 3635 | m.3635G\>A | [G3635A\-F12](https://mitofam.com/doc/1441/) | China | LHON | 23 | 4 | 2014 | [25194554](https://pubmed.ncbi.nlm.nih.gov/25194554/) | Pedigree WZ516; haplogroup R11a |
| 13 | 3635 | m.3635G\>A | [G3635A\-F13](https://mitofam.com/doc/1442/) | China | LHON | 7 | 0 | 2014 | [25194554](https://pubmed.ncbi.nlm.nih.gov/25194554/) | Pedigree WZ517; haplogroup M7b2 |
| 14 | 3635 | m.3635G\>A | [G3635A\-F14](https://mitofam.com/doc/1443/) | China | LHON | 18 | 1 | 2014 | [25194554](https://pubmed.ncbi.nlm.nih.gov/25194554/) | Pedigree WZ518; haplogroup F1a1 |
| 15 | 3635 | m.3635G\>A | [G3635A\-F15 ](https://mitofam.com/doc/1444/)| China | LHON | 14 | 2 | 2014 | [25194554](https://pubmed.ncbi.nlm.nih.gov/25194554/) | Pedigree WZ519; haplogroup G1a |
| 16 | 3635 | m.3635G\>A | [G3635A\-F16 ](https://mitofam.com/doc/1445/)| China | LHON | 11 | 1 | 2014 | [25194554](https://pubmed.ncbi.nlm.nih.gov/25194554/) | Pedigree WZ520; haplogroup B4 |
| 17 | 3635 | m.3635G\>A | [G3635A\-F17](https://mitofam.com/doc/1446/) | China | LHON | 12 | 0 | 2014 | [25194554](https://pubmed.ncbi.nlm.nih.gov/25194554/) | Pedigree WZ521; haplogroup N9a3 |

# 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 | 3635 | m.3635G\>A | G3635A\-F1 | G3635A\-F1\-III1 | Fam | M | N | Y | A | 24 | Homo | / | / | / | LHON | Age is onset age |
| 2 | 3635 | m.3635G\>A | G3635A\-F1 | G3635A\-F1\-III2 | Fam | M | Y | Y | A | 13 | Homo | / | / | / | LHON | Age is onset age |
| 3 | 3635 | m.3635G\>A | G3635A\-F2 | G3635A\-F2\-III1 | Fam | M | Y | Y | A | 15 | Homo | / | / | / | LHON | Age is onset age |
| 4 | 3635 | m.3635G\>A | G3635A\-F3 | G3635A\-F3\-I1 | Uninf | M | Y | Y | A | 33 | Homo | / | / | / | LHON | Age is onset age |
| 5 | 3635 | m.3635G\>A | G3635A\-F4 | G3635A\-F4\-III4 | Uninf | M | Y | Y | A | 15 | Homo | / | / | / | LHON | Age is onset age |
| 6 | 3635 | m.3635G\>A | G3635A\-F5 | G3635A\-F5\-III1 | Fam | F | Y | Y | A | 15 | Homo | / | / | / | LHON | Age is onset age |
| 7 | 3635 | m.3635G\>A | G3635A\-F6 | G3635A\-F6\-I1 | Uninf | F | Y | Y | A | 9 | Homo | / | / | / | LHON | Age is onset age |
| 8 | 3635 | m.3635G\>A | G3635A\-F7 | G3635A\-F7\-III4 | Fam | M | Y | Y | A | 18 | Homo | / | / | / | LHON | Age is onset age |
| 9 | 3635 | m.3635G\>A | G3635A\-F8 | G3635A\-F8\-III1 | Fam | M | Y | Y | A | 12 | Heteroplasmic | / | / | / | LHON; unilateral reported | Age is onset age |
| 10 | 3635 | m.3635G\>A | G3635A\-F9 | G3635A\-F9\-III14 | Fam | M | Y | Y | A | 16 | Homo | / | / | / | LHON; profound worst; mild recovery | Onset 16; haplogroup G2a1 |
| 11 | 3635 | m.3635G\>A | G3635A\-F10 | G3635A\-F10\-IV8 | Fam | F | Y | Y | A | 15 | Homo | / | / | / | LHON; profound worst; mild recovery | Onset 15; haplogroup R11a |
| 12 | 3635 | m.3635G\>A | G3635A\-F11 | G3635A\-F11\-III12 | Fam | M | Y | Y | A | 38 | Homo | / | / | / | LHON; moderate worst; mild recovery | Onset 18; haplogroup D4 |
| 13 | 3635 | m.3635G\>A | G3635A\-F12 | G3635A\-F12\-III13 | Fam | M | Y | Y | A | 44 | Homo | / | / | / | LHON; severe worst; profound recovery | Onset 24; haplogroup R11a |
| 14 | 3635 | m.3635G\>A | G3635A\-F13 | G3635A\-F13\-III3 | Fam | M | Y | Y | A | 14 | Homo | / | / | / | LHON; moderate worst; mild recovery | Onset 14; haplogroup M7b2 |
| 15 | 3635 | m.3635G\>A | G3635A\-F14 | G3635A\-F14\-IV1 | Fam | M | Y | Y | A | 20 | Homo | / | / | / | LHON; profound worst; profound recovery | Onset 20; haplogroup F1a1 |
| 16 | 3635 | m.3635G\>A | G3635A\-F15 | G3635A\-F15\-III10 | Fam | M | Y | Y | A | 42 | Homo | / | / | / | LHON; severe worst; mild recovery | Onset 32; haplogroup G1a |
| 17 | 3635 | m.3635G\>A | G3635A\-F16 | G3635A\-F16\-III3 | Fam | M | Y | Y | A | 15 | Homo | / | / | / | LHON; profound worst; profound recovery | Onset 15; haplogroup B4 |
| 18 | 3635 | m.3635G\>A | G3635A\-F17 | G3635A\-F17\-III6 | Fam | M | Y | Y | A | 20 | Homo | / | / | / | LHON; severe worst; severe recovery | Onset 20; haplogroup N9a3 |

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