G13135A

# **General Information**

| **Position** | **13135** | **Variant** | **m.13135G\>A** | **Locus** | **MT\-ND5** | **Amino\-AcidChange** | **A267T** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **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.13135G\>A** variant in MT\-ND5 has been reported in 3 pedigrees. To date, 19 carriers have been reported. Mutation\-load data were not available. The main clinical manifestations among affected carriers included HCM, mitral regurgitation, atrial fibrillation, condition, hypertension, outcome reported as normal, pulmonary arterial hypertension, mitral, and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 13135 | m.13135G\>A | [G13135A\-F1](https://mitofam.com/doc/1345/) | China | Hypertrophic cardiomyopathy | 3 | 3 | 2009 | [19473338](https://pubmed.ncbi.nlm.nih.gov/19473338/) | Family A |
| 2 | 13135 | m.13135G\>A | [G13135A\-F2](https://mitofam.com/doc/1346/) | China | Hypertrophic cardiomyopathy | 1 | 3 | 2009 | [19473338](https://pubmed.ncbi.nlm.nih.gov/19473338/) | Family B |
| 3 | 13135 | m.13135G\>A | [G13135A\-F3](https://mitofam.com/doc/1347/) | China | Hypertrophic cardiomyopathy | 2 | 4 | 2009 | [19473338](https://pubmed.ncbi.nlm.nih.gov/19473338/) | Family C |

# **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 | 13135 | m.13135G\>A | G13135A\-F1 | G13135A\-F1\-II2 | Fam | F | N | Y | A | 72 | \+ | / | / | / | HCM; mitral/aortic/tricuspid regurgitation; atrial fibrillation |  |
| 2 | 13135 | m.13135G\>A | G13135A\-F1 | G13135A\-F1\-III2 | Fam | F | N | Y | A | 46 | \+ | / | / | / | HCM; mitral regurgitation |  |
| 3 | 13135 | m.13135G\>A | G13135A\-F1 | G13135A\-F1\-III4 | Fam | M | N | Y | A | 43 | \+ | / | / | / | HCM; mitral regurgitation |  |
| 4 | 13135 | m.13135G\>A | G13135A\-F1 | G13135A\-F1\-III7 | Fam | M | N | Y | A | 53 | \+ | / | / | / | HCM; mitral regurgitation; pulmonary arterial hypertension; atrial fibrillation; CVA |  |
| 5 | 13135 | m.13135G\>A | G13135A\-F1 | G13135A\-F1\-II8 | Fam | F | N | N | ND | ND | \+ | / | / | / | Healthy |  |
| 6 | 13135 | m.13135G\>A | G13135A\-F1 | G13135A\-F1\-III20 | Fam | F | N | N | ND | ND | \+ | / | / | / | Healthy |  |
| 7 | 13135 | m.13135G\>A | G13135A\-F1 | G13135A\-F1\-IV7 | Fam | F | N | N | ND | ND | \+ | / | / | / | Healthy |  |
| 8 | 13135 | m.13135G\>A | G13135A\-F2 | G13135A\-F2\-I1 | Uninf | F | N | Y | A | 74 | \+ | / | / | / | HCM; mitral regurgitation; pulmonary arterial hypertension; atrial fibrillation |  |
| 9 | 13135 | m.13135G\>A | G13135A\-F2 | G13135A\-F2\-II4 | Fam | M | N | Y | A | 49 | \+ | / | / | / | HCM; mitral regurgitation; hypertension |  |
| 10 | 13135 | m.13135G\>A | G13135A\-F2 | G13135A\-F2\-II9 | Fam | F | N | Y | A | 40 | \+ | / | / | / | HCM; mitral regurgitation |  |
| 11 | 13135 | m.13135G\>A | G13135A\-F2 | G13135A\-F2\-III8 | Fam | F | N | Y | A | 18 | \+ | / | / | / | HCM; condition/outcome reported as normal |  |
| 12 | 13135 | m.13135G\>A | G13135A\-F2 | G13135A\-F2\-III4 | Fam | F | N | N | ND | ND | \+ | / | / | / | Healthy |  |
| 13 | 13135 | m.13135G\>A | G13135A\-F3 | G13135A\-F3\-II7 | Fam | M | N | Y | A | 62 | \+ | / | / | / | HCM; hypertension |  |
| 14 | 13135 | m.13135G\>A | G13135A\-F3 | G13135A\-F3\-II10 | Fam | F | N | Y | A | 55 | \+ | / | / | / | HCM; mitral/tricuspid regurgitation; pulmonary arterial hypertension; atrial fibrillation |  |
| 15 | 13135 | m.13135G\>A | G13135A\-F3 | G13135A\-F3\-III11 | Fam | F | N | Y | A | 46 | \+ | / | / | / | HCM; mitral regurgitation; hypertension |  |
| 16 | 13135 | m.13135G\>A | G13135A\-F3 | G13135A\-F3\-IV10 | Fam | F | N | Y | A | 24 | \+ | / | / | / | HCM; condition/outcome reported as normal |  |
| 17 | 13135 | m.13135G\>A | G13135A\-F3 | G13135A\-F3\-IV14 | Fam | F | N | Y | A | 14 | \+ | / | / | / | HCM; condition/outcome reported as normal |  |
| 18 | 13135 | m.13135G\>A | G13135A\-F3 | G13135A\-F3\-III3 | Fam | M | N | N | ND | ND | \+ | / | / | / | Healthy |  |
| 19 | 13135 | m.13135G\>A | G13135A\-F3 | G13135A\-F3\-IV12 | Fam | M | N | N | ND | ND | \+ | / | / | / | Healthy |  |

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