T13091C

# **General Information**

| **Position** | **13091** | **Variant** | **m.13091T\>C** | **Locus** | **MT\-ND5** | **Amino\-AcidChange** | **M252T** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **APOGEE2** | Pathogenic | **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.13091T\>C** variant in MT\-ND5 has been reported in 1 pedigree. To date, 2 carriers have been reported. Reported mutation loads ranged from 4% to 61%, with a median of 30% overall; affected carriers showed mutation loads from 4% to 61%, with a median of 30%. In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in muscle (61%), urine (52%), hair (12%), and bone marrow (30%) than in blood (4%). The main clinical manifestations among affected carriers included MELAS, migraine, and repeated migraine attacks.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 13091 | m.13091T\>C | [T13091C\-F1](https://mitofam.com/doc/1375/) | Czech Republic | MELAS | 0 | 1 | 2020 | [31996177](https://pubmed.ncbi.nlm.nih.gov/31996177/) | P8 family; Table 1 and maternal testing text.; Czech Republic inferred from Czech diagnostic center and patient cohort context. |

# **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 | 13091 | m.13091T\>C | T13091C\-F1 | T13091C\-F1\-II1 | Fam | ND | Y | Y | A | onset 10 y; alive 31 y | 4% | 61% | 52% | 12%(H); 30%(BM) | Migraine; MELAS | Table 1\.; Source: P8 |
| 2 | 13091 | m.13091T\>C | T13091C\-F1 | T13091C\-F1\-I2 | Fam | F | N | Y | A | ND | / | / | / | Positive(ND) | Repeated migraine attacks | Maternal testing paragraph.; Source: P8 mother |

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