T5814C

# General Information

| **Position** | **5814** | **Variant** | **m.5814T\>C** | **Locus** | **MT\-TC** | **RNA** | **tRNA Cys** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | 38\.80% | **Pathogenicity** | Reported \[LB] |

"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.5814T\>C** variant in MT\-TC has been reported in 6 pedigrees. To date, 20 carriers have been reported. Homoplasmy was reported in 13/20 carriers (65%), and 9/20 carriers (45%) were affected. The main clinical manifestations among affected carriers included short stature, epilepsy, microcephaly, chronic headache, limb myopathy, mild diffuse hypotonia, mild scoliosis, mitochondrial encephalomyopathy, and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 5814 | m.5814T\>C | T5814C\-F1 | Italy | Mitochondrial encephalomyopathy | ND | ND | 2009 | [18977334](https://pubmed.ncbi.nlm.nih.gov/18977334/) |  |
| 2 | 5814 | m.5814T\>C | T5814C\-F2 | USA | Mitochondrial encephalomyopathy | ND | ND | 1996 | [8829635](https://pubmed.ncbi.nlm.nih.gov/8829635/) |  |
| 3 | 5814 | m.5814T\>C | [T5814C\-F3 ](https://mitofam.com/doc/559/)| Italy | Mitochondrial encephalomyopathy | 2 | 1 | 1997 | [9185178](https://pubmed.ncbi.nlm.nih.gov/9185178/) |  |
| 4 | 5814 | m.5814T\>C | [T5814C\-F4](https://mitofam.com/doc/560/) | France | Intolerance to exercise | 3 | 0 | 2001 | [11335700](https://pubmed.ncbi.nlm.nih.gov/11335700/) |  |
| 5 | 5814 | m.5814T\>C | [T5814C\-F5](https://mitofam.com/doc/561/) | Italy | Encephalomyopathy | 4 | 3 | 2007 | [17241783](https://pubmed.ncbi.nlm.nih.gov/17241783/) |  |
| 6 | 5814 | m.5814T\>C | T5814C\-F6 | France | Limb myopathy | ND | ND | 1998 | [9384601](https://pubmed.ncbi.nlm.nih.gov/9384601/) |  |

# 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 | 5814 | m.5814T\>C | T5814C\-F1 | T5814C\-F1\-P1 | uninf | ND | Y | Y | ND | 10 | \+ | / | / | / | Ptosis, myopathy, epilepsy |  |
| 2 | 5814 | m.5814T\>C | T5814C\-F2 | T5814C\-F2\-P1 | uninf | F | Y | Y | ND | 5 | \>90% | \>90% | / | / | Mitochondrial encephalomyopathy |  |
| 3 | 5814 | m.5814T\>C | T5814C\-F3 | T5814C\-F3\-II2 | uninf | F | N | Y | A | 63 | 88% | / | / | / | Moderate diffuse bradykinesia |  |
| 4 | 5814 | m.5814T\>C | T5814C\-F3 | T5814C\-F3\-III2 | Fam | F | Y | Y | D | 33 | 96% | 98% | / | / | Short stature, ophthalmoparesis, hearing impairment, unsteady gait, nystagmus, absent tendon reflexes, myoclonic jerks, generalized tonic\-clonic seizures, respiratory insufficiency, easy fatigability, droopy eyelids, limited eye movements, bradykinesia |  |
| 5 | 5814 | m.5814T\>C | T5814C\-F3 | T5814C\-F3\-III3 | Fam | M | N | N | A | 22 | 74% | / | / | / | Healthy |  |
| 6 | 5814 | m.5814T\>C | T5814C\-F3 | T5814C\-F3\-IV1 | Fam | F | N | N | A | ND | 92% | / | / | / | Healthy |  |
| 7 | 5814 | m.5814T\>C | T5814C\-F4 | T5814C\-F4\-I1 | Fam | F | Y | Y | A | 55 | / | Homo | / | / | Intolerance to exercise |  |
| 8 | 5814 | m.5814T\>C | T5814C\-F4 | T5814C\-F4\-II1 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 9 | 5814 | m.5814T\>C | T5814C\-F4 | T5814C\-F4\-II2 | Fam | M | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 10 | 5814 | m.5814T\>C | T5814C\-F5 | T5814C\-F5\-I2 | uninf | F | N | ND | A | ND | Homo | / | / | / | ND |  |
| 11 | 5814 | m.5814T\>C | T5814C\-F5 | T5814C\-F5\-II2 | fam | F | N | Y | A | 45 | Homo | Homo | / | / | Mild scoliosis, slight dilatation of cerebral sulci, moderate atrophy of cerebellar vermis |  |
| 12 | 5814 | m.5814T\>C | T5814C\-F5 | T5814C\-F5\-II3 | fam | F | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 13 | 5814 | m.5814T\>C | T5814C\-F5 | T5814C\-F5\-II4 | fam | M | N | N | D | ND | / | / | / | / | Healthy |  |
| 14 | 5814 | m.5814T\>C | T5814C\-F5 | T5814C\-F5\-II5 | fam | M | N | Y | A | 38 | Homo | / | / | / | Chronic headache, short stature, microcephaly |  |
| 15 | 5814 | m.5814T\>C | T5814C\-F5 | T5814C\-F5\-II6 | fam | F | N | Y | A | 31 | Homo | / | / | / | Mild diffuse hypotonia |  |
| 16 | 5814 | m.5814T\>C | T5814C\-F5 | T5814C\-F5\-III1 | fam | F | Y | Y | A | 30 | Homo | Homo | / | / | Profound mental retardation, epilepsy, tetraplegia, plastic hypertonia, hypotonia, diffuse muscle wasting, postural tremor, intentional tremor, fine tremor, decreased tendon reflexes, deafness, bilateral retinal dystrophy, psychomotor agitation, aggressiveness, bladder retention, short stature, low weight, microcephaly, coarse face, generalized spasticity, lip cyanosis, arm extension, generalized jerks |  |
| 17 | 5814 | m.5814T\>C | T5814C\-F5 | T5814C\-F5\-III2 | fam | M | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 18 | 5814 | m.5814T\>C | T5814C\-F5 | T5814C\-F5\-III3 | fam | M | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 19 | 5814 | m.5814T\>C | T5814C\-F6 | T5814C\-F6\-P1 | uninf | F | Y | Y | A | 60 | / | Homo | / | / | Limb myopathy |  |

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