C5541T

# General Information

| **Position** | **5541** | **Variant** | **M.5541C\>T** | **Locus** | **MT\-TW** | **RNA** | **TRNA Trp** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **MitoTIP** | 84\.30% | **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.5541C\>T** variant in MT\-TW has been reported in 2 pedigrees. To date, 6 carriers have been reported. Reported mutation loads ranged from 0% to 100%, with a median of 12\.9% overall; affected carriers showed mutation loads from 12\.9% to 100%, with a median of 50%; unaffected carriers showed mutation loads from 0% to 10%, with a median of 5%. In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in muscle (approximately 100%) than in blood (50%). The main clinical manifestations among affected carriers included MELAS.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 5541 | M.5541C\>T | [C5541T\-F1](https://mitofam.com/doc/866/) | Japan | MELAS | 2 | 0 | 2015 | [26297375](https://pubmed.ncbi.nlm.nih.gov/26297375/) |  |
| 2 | 5541 | M.5541C\>T | [C5541T\-F2 ](https://mitofam.com/doc/867/)| China | MELAS | ND | ND | 2023 | [36125978](https://pubmed.ncbi.nlm.nih.gov/36125978/) |  |

# 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 | 5541 | M.5541C\>T | C5541T\-F1 | C5541T\-F1\-III1 | Fam | M | Y | Y | A | 13 | 50% | \~100% | / | / | MELAS |  |
| 2 | 5541 | M.5541C\>T | C5541T\-F1 | C5541T\-F1\-II6 | Fam | F | N | N | ND | ND | 10% | / | / | / | Healthy |  |
| 3 | 5541 | M.5541C\>T | C5541T\-F2 | C5541T\-F2\-I2 | Uninf | F | N | ND | D | ND | / | / | / | / | Died in youth from unknown cause |  |
| 4 | 5541 | M.5541C\>T | C5541T\-F2 | C5541T\-F2\-II2 | Uninf | F | Y | Y | A | 71 | 12\.86% | / | / | / | MELAS |  |
| 5 | 5541 | M.5541C\>T | C5541T\-F2 | C5541T\-F2\-III1 | Fam | F | N | N | A | ND | \+ | / | / | / | Healthy |  |
| 6 | 5541 | M.5541C\>T | C5541T\-F2 | C5541T\-F2\-III2 | Fam | F | N | N | A | ND | 0 | / | / | / | Healthy |  |

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