A14693G

# **General Information**

| **Position** | **14693** | **Variant** | **m.14693A\>G** | **Locus** | **MT\-TE** | **RNA** | **tRNA Glu** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \+ | **mitoTIP** | 39\.50% | **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.14693A\>G variant in MT\-TE has been reported in 4 pedigrees. To date, 18 carriers have been reported. Homoplasmy was reported in 16/18 carriers (88\.9%), and 16/18 carriers (88\.9%) were affected. The main clinical manifestations among affected carriers included No specific clinical features were available for affected carriers..

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 14693 | m.14693A\>G | [A14693G\-F1](https://mitofam.com/doc/922/) | China | Foot twitches, limb weakness, drowsiness, hemihypoesthesia, headache, confusion, disorientation, reading impairment, cognitive decline, sensory deficits, hemianopsia, unsteady gait, apraxia, finger agnosia | 2 | 1 | 2003 | [14571459](https://pubmed.ncbi.nlm.nih.gov/14571459/) | Carrying A3243G |
| 2 | 14693 | m.14693A\>G | [A14693G\-F2 ](https://mitofam.com/doc/923/)| China | Leber's hereditary optic neuropathy | 4 | 2 | 2007 | [17434142](https://pubmed.ncbi.nlm.nih.gov/17434142/) | Carrying G3460A |
| 3 | 14693 | m.14693A\>G | [A14693G\-F3](https://mitofam.com/doc/924/) | China | Bilateral sensorineural hearing loss, symmetric high\-frequency hearing impairment, drug\-induced deafness | 9 | 6 | 2009 | [19376484](https://pubmed.ncbi.nlm.nih.gov/19376484/) | Carrying A1555G |
| 4 | 14693 | m.14693A\>G | [A14693G\-F4](https://mitofam.com/doc/925/) | China | Hypertension | 6 | 4 | 2024 | [38222291](https://pubmed.ncbi.nlm.nih.gov/38222291/) |  |

# **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 | 14693 | m.14693A\>G | A14693G\-F1 | A14693G\-F1\-II1 | Fam | M | Y | Y | A | 32 | / | Homo | / | / | Foot twitches, limb weakness, drowsiness, hemihypoesthesia, headache, confusion, disorientation, reading impairment, cognitive decline, sensory deficits, hemianopsia, unsteady gait, apraxia, finger agnosia | Carrying A3243G |
| 2 | 14693 | m.14693A\>G | A14693G\-F1 | A14693G\-F1\-I2 | Uninf | F | N | Y | A | 58 | 10% | / | / | / | Diabetes mellitus, bilateral ptosis | Without A3243G |
| 3 | 14693 | m.14693A\>G | A14693G\-F2 | A14693G\-F2\-III1 | Fam | M | Y | Y | A | 14 | Homo | / | / | / | Bilateral progressive visual loss, central visual shadow, color vision defect | Carrying G3460A |
| 4 | 14693 | m.14693A\>G | A14693G\-F2 | A14693G\-F2\-II2 | Fam | F | N | Y | A | 12 | Homo | / | / | / | severe bilateral central visual loss, typical LHON fundus changes | Carrying G3460A |
| 5 | 14693 | m.14693A\>G | A14693G\-F2 | A14693G\-F2\-II6 | Fam | F | N | Y | A | 16 | Homo | / | / | / | progressive bilateral optic atrophy, central visual field defect | Carrying G3460A |
| 6 | 14693 | m.14693A\>G | A14693G\-F2 | A14693G\-F2\-II4 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | Carrying G3460A |
| 7 | 14693 | m.14693A\>G | A14693G\-F2 | A14693G\-F2\-III2 | Fam | F | N | N | A | ND | / | / | / | / | Healthy |  |
| 8 | 14693 | m.14693A\>G | A14693G\-F3 | A14693G\-F3\-II8 | Fam | F | N | Y | A | 59 | Homo | / | / | / | Bilateral and sensorineural hearing impairment |  |
| 9 | 14693 | m.14693A\>G | A14693G\-F3 | A14693G\-F3\-III1 | Fam | F | Y | Y | A | 34 | Homo | / | / | / | Bilateral and sensorineural hearing impairment |  |
| 10 | 14693 | m.14693A\>G | A14693G\-F3 | A14693G\-F3\-III3 | Fam | M | N | Y | A | 32 | Homo | / | / | / | Bilateral and sensorineural hearing impairment |  |
| 11 | 14693 | m.14693A\>G | A14693G\-F3 | A14693G\-F3\-III9 | Fam | M | N | Y | A | 38 | Homo | / | / | / | Bilateral and sensorineural hearing impairment |  |
| 12 | 14693 | m.14693A\>G | A14693G\-F3 | A14693G\-F3\-III10 | Fam | F | N | Y | A | 35 | Homo | / | / | / | Bilateral and sensorineural hearing impairment |  |
| 13 | 14693 | m.14693A\>G | A14693G\-F3 | A14693G\-F3\-III11 | Fam | F | N | Y | A | 36 | Homo | / | / | / | Bilateral and sensorineural hearing impairment |  |
| 14 | 14693 | m.14693A\>G | A14693G\-F3 | A14693G\-F3\-III12 | Fam | F | N | Y | A | 31 | Homo | / | / | / | Bilateral and sensorineural hearing impairment |  |
| 15 | 14693 | m.14693A\>G | A14693G\-F4 | A14693G\-F4\-II6 | Fam | F | Y | Y | A | 75 | Homo | / | / | / | Hypertension |  |
| 16 | 14693 | m.14693A\>G | A14693G\-F4 | A14693G\-F4\-II8 | Fam | F | N | Y | A | 72 | Homo | / | / | / | Hypertension |  |
| 17 | 14693 | m.14693A\>G | A14693G\-F4 | A14693G\-F4\-III3 | Fam | F | N | Y | A | 50 | Homo | / | / | / | Hypertension |  |
| 18 | 14693 | m.14693A\>G | A14693G\-F4 | A14693G\-F4\-III10 | Fam | F | N | Y | A | 45 | Homo | / | / | / | Hypertension |  |

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