A13637G

# **General Information**

| **Position** | **13637** | **Variant** | **m.13637A\>G** | **Locus** | **MT\-ND5** | **Amino\-AcidChange** | **Q434R** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **APOGEE2** | Benign | **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.13637A\>G** variant in MT\-ND5 has been reported in 2 pedigrees. To date, 4 carriers have been reported. Homoplasmy was reported in 4/4 carriers (100%), and 2/4 carriers (50%) were affected. The main clinical manifestations among affected carriers included 0\.06, LHON, progressive visual impairment, atrophy, cecocentral scotoma right eye, cecocentral scotomas, optic nerve edema, and visual acuity 0\.05\.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 13637 | m.13637A\>G | [A13637G\-F1](https://mitofam.com/doc/1325/) | Latvia | LHON | 2 | 0 | 2013 | [24319328](https://pubmed.ncbi.nlm.nih.gov/24319328/) | Family F2; Tables 1\-2 and second\-family paragraph.; Latvia; Latvian population and Riga/Latvian institutions. |
| 2 | 13637 | m.13637A\>G | A13637G\-F2 | Latvia | LHON | 0 | 0 | 2013 | [24319328](https://pubmed.ncbi.nlm.nih.gov/24319328/) | LHON\-5; Tables 1\-2 and patient LHON\-5 paragraph.; Latvia; Latvian population and Riga/Latvian institutions. |

# **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 | 13637 | m.13637A\>G | A13637G\-F1 | A13637G\-F1\-I2 | Fam | F | Y | Y | A | onset 40 y; tested 55 y | Homo | / | / | / | LHON; visual acuity 0\.05/0\.06; cecocentral scotomas | Tables 1\-2 and second\-family text.; Source: LHON\-4 |
| 2 | 13637 | m.13637A\>G | A13637G\-F1 | A13637G\-F1\-II1 | Fam | F | N | N | A | 24 y | Homo | / | / | / | Healthy | Tables 1\-2 and second\-family text.; Source: LHON\-6 |
| 3 | 13637 | m.13637A\>G | A13637G\-F1 | A13637G\-F1\-II2 | Fam | F | N | N | A | 32 y | Homo | / | / | / | Healthy | Tables 1\-2 and second\-family text.; Source: LHON\-7 |
| 4 | 13637 | m.13637A\>G | A13637G\-F2 | A13637G\-F2\-P1 | Uninf | M | Y | Y | A | onset 53 y; tested 54 y | Homo | / | / | / | Progressive visual impairment; optic nerve edema/atrophy; cecocentral scotoma right eye | Tables 1\-2 and patient LHON\-5 paragraph.; Source: LHON\-5 |

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