A13511T

# **General Information**

| **Position** | **13511** | **Variant** | **m.13511A\>T** | **Locus** | **MT\-ND5** | **Amino\-AcidChange** | **K392M** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **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.13511A\>T** variant in MT\-ND5 has been reported in 2 pedigrees. To date, 2 carriers have been reported. Reported mutation loads ranged from 53% to 72%, with a median of 65% overall; affected carriers showed mutation loads from 53% to 72%, with a median of 65%. The main clinical manifestations among affected carriers included leigh\-like MRI, mitochondrial disease, pyramidal syndrome, exact phenotype not fully in local text., exercise intolerance, headaches, hemidystonia, and strabismus.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 13511 | m.13511A\>T | A13511T\-F1 | Netherlands | Leigh syndrome | 0 | 0 | 2007 | [17400793](https://pubmed.ncbi.nlm.nih.gov/17400793/) | Family 1; Family 1 description.; Netherlands; Maastricht/Erasmus mitochondrial diagnostic cohort. |
| 2 | 13511 | m.13511A\>T | A13511T\-F2 | Netherlands inferred | mtDNA disease / complex I deficiency suspected | 0 | 0 | 2017 | [27450679](https://pubmed.ncbi.nlm.nih.gov/27450679/) | Family 12; Table 1 and de novo recurrence text; Netherlands inferred from Maastricht diagnostic laboratory/cohort. |

# **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 | 13511 | m.13511A\>T | A13511T\-F1 | A13511T\-F1\-P1 | De novo | F | Y | Y | A | onset first year; age 5 y exercise intolerance | 65% | 72% | / | 53\-65%(F) | Pyramidal syndrome; hemidystonia; strabismus; headaches; exercise intolerance; Leigh\-like MRI | Family 1 description.; Source: Patient 1; Complex I/III deficiency. |
| 2 | 13511 | m.13511A\>T | A13511T\-F2 | A13511T\-F2\-P1 | De novo | ND | Y | Y | A | 3 years | 65% | 72% | / | 53\-65%(F) | Mitochondrial disease; exact phenotype not fully in local text. | Mother negative in muscle, blood and hair.; Table 1/2: index Family 12 m.13511A\>T loads; maternal testing negative.; Source: index patient |

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