T3290C

# **General Information**

| **Position** | **3290** | **Variant** | **m.3290T\>C** | **Locus** | **MT\-TL1** | **RNA** | **tRNA Leu (UUR)** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **mitoTIP** | 1\.40% | **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.3290T\>C** variant in MT\-TL1 has been reported in 2 pedigrees. To date, 30 carriers have been reported. Homoplasmy was reported in 14/30 carriers (46\.7%), and 13/30 carriers (43\.3%) were affected. The main clinical manifestations among affected carriers included cardiomyopathy, limb weakness, skeletal myopathy, hypertension, MELAS, dyspnea, heart failure, liver cirrhosis, and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3290 | m.3290T\>C | [T3290C\-F1](https://mitofam.com/doc/2313/) | UK | Skeletal myopathy | 3 | 3 | 1995 | [7600089](https://pubmed.ncbi.nlm.nih.gov/7600089/) | Carrying A3243G |
| 2 | 3290 | m.3290T\>C | [T3290C\-F2 ](https://mitofam.com/doc/2314/)| China | Cardiomyopathy, MELAS | 14 | 8 | 2025 | [40514671](https://pubmed.ncbi.nlm.nih.gov/40514671/) |  |

# **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 | 3290 | m.3290T\>C | T3290C\-F1 | T3290C\-F1\-I1 | Uninf | F | N | N | D | ND | / | / | / | / | Healthy | Carrying A3243G |
| 2 | 3290 | m.3290T\>C | T3290C\-F1 | T3290C\-F1\-II1 | Fam | F | N | Y | D | ND | / | / | / | / | Skeletal myopathy | Carrying A3243G |
| 3 | 3290 | m.3290T\>C | T3290C\-F1 | T3290C\-F1\-II2 | Fam | M | N | Y | A | 50 | Homo | / | / | / | Skeletal myopathy | Carrying A3243G |
| 4 | 3290 | m.3290T\>C | T3290C\-F1 | T3290C\-F1\-II3 | Fam | F | Y | Y | A | 8 | Homo | / | / | / | Limb weakness | Carrying A3243G |
| 5 | 3290 | m.3290T\>C | T3290C\-F1 | T3290C\-F1\-II4 | Fam | M | N | Y | D | ND | / | / | / | / | Limb weakness | Carrying A3243G |
| 6 | 3290 | m.3290T\>C | T3290C\-F1 | T3290C\-F1\-III1 | Fam | F | N | N | A | 34 | Homo | / | / | / | Healthy | Carrying A3243G |
| 7 | 3290 | m.3290T\>C | T3290C\-F1 | T3290C\-F1\-III2 | Fam | F | N | N | A | 32 | Homo | / | / | / | Healthy | Carrying A3243G |
| 8 | 3290 | m.3290T\>C | T3290C\-F2 | T3290C\-F2\-I2 | Uninf | F | N | N | A | ND | / | / | / | / | Healthy | Carrying A3243G |
| 9 | 3290 | m.3290T\>C | T3290C\-F2 | T3290C\-F2\-II2 | Fam | F | N | Y | D | 70 | / | / | / | / | Cardiomyopathy | Carrying A3244G |
| 10 | 3290 | m.3290T\>C | T3290C\-F2 | T3290C\-F2\-II3 | Fam | F | N | N | D | ND | / | / | / | / | Healthy | Carrying A3245G |
| 11 | 3290 | m.3290T\>C | T3290C\-F2 | T3290C\-F2\-III2 | Fam | F | N | Y | D | 30 | / | / | / | / | Cardiomyopathy | Carrying A3246G |
| 12 | 3290 | m.3290T\>C | T3290C\-F2 | T3290C\-F2\-III3 | Fam | F | N | Y | D | 3 | / | / | / | / | Cardiomyopathy | Carrying A3247G |
| 13 | 3290 | m.3290T\>C | T3290C\-F2 | T3290C\-F2\-III4 | Fam | M | N | N | A | ND | Homo | / | / | / | Increased heart rate occasionally | Carrying A3248G |
| 14 | 3290 | m.3290T\>C | T3290C\-F2 | T3290C\-F2\-III6 | Fam | M | N | N | A | ND | Homo | / | / | / | Healthy | Carrying A3249G |
| 15 | 3290 | m.3290T\>C | T3290C\-F2 | T3290C\-F2\-III7 | Fam | F | N | Y | D | ND | / | / | / | / | Cardiomyopathy | Carrying A3250G |
| 16 | 3290 | m.3290T\>C | T3290C\-F2 | T3290C\-F2\-III8 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | Carrying A3251G |
| 17 | 3290 | m.3290T\>C | T3290C\-F2 | T3290C\-F2\-IV1 | Fam | F | N | Y | D | 3 | / | / | / | / | Cardiomyopathy | Carrying A3252G |
| 18 | 3290 | m.3290T\>C | T3290C\-F2 | T3290C\-F2\-IV2 | Fam | F | N | N | A | 47 | Homo | / | / | / | Healthy | Carrying A3253G |
| 19 | 3290 | m.3290T\>C | T3290C\-F2 | T3290C\-F2\-IV4 | Fam | M | N | Y | A | 46 | Homo | / | / | / | Hypertension, tachycardia, liver cirrhosis | Carrying A3254G |
| 20 | 3290 | m.3290T\>C | T3290C\-F2 | T3290C\-F2\-IV8 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | Carrying A3255G |
| 21 | 3290 | m.3290T\>C | T3290C\-F2 | T3290C\-F2\-IV10 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | Carrying A3256G |
| 22 | 3290 | m.3290T\>C | T3290C\-F2 | T3290C\-F2\-IV13 | Fam | M | N | N | A | ND | / | / | / | / | Healthy | Carrying A3257G |
| 23 | 3290 | m.3290T\>C | T3290C\-F2 | T3290C\-F2\-IV14 | Fam | M | N | Y | D | 30 | / | / | / | / | Cardiomyopathy | Carrying A3258G |
| 24 | 3290 | m.3290T\>C | T3290C\-F2 | T3290C\-F2\-V1 | Fam | F | N | N | A | 27 | Homo | / | / | / | Healthy | Carrying A3259G |
| 25 | 3290 | m.3290T\>C | T3290C\-F2 | T3290C\-F2\-V3 | Fam | M | N | N | A | 24 | Homo | / | / | / | Healthy | Carrying A3260G |
| 26 | 3290 | m.3290T\>C | T3290C\-F2 | T3290C\-F2\-V4 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | Carrying A3261G |
| 27 | 3290 | m.3290T\>C | T3290C\-F2 | T3290C\-F2\-V5 | Fam | M | N | N | A | ND | / | / | / | / | Healthy | Carrying A3262G |
| 28 | 3290 | m.3290T\>C | T3290C\-F2 | T3290C\-F2\-V6 | Fam | M | N | Y | A | ND | / | / | / | / | Cardiomyopathy | Carrying A3263G |
| 29 | 3290 | m.3290T\>C | T3290C\-F2 | T3290C\-F2\-V7 | Fam | M | N | N | A | ND | / | / | / | / | Healthy | Carrying A3264G |
| 30 | 3290 | m.3290T\>C | T3290C\-F2 | T3290C\-F2\-VI1 | Fam | M | Y | Y | D | 2\.5 | Homo | / | / | / | MELAS, dyspnea, pneumonia, heart failure | Carrying A3265G |

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