M1T (p.Met1Thr) variant of FHL1 (Q13642)
M1T (p.Met1Thr) in FHL1 (Q13642) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of X-linked myopathy with postural muscle atrophy. The record also includes experimental measurements, published literature, and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs2521246350
- ClinGen CA414607324
- ClinVar RCV003626011
- Likely pathogenic
- X-linked myopathy with postural muscle atrophy
- Missense
- ClinVar: Likely pathogenic (X-linked myopathy with postural muscle atrophy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- FHL1 Zinc finger, LIM-type domain domainome 1.0: score -0.618
- Cited in: Emery-Dreifuss Muscular Dystrophy. (PMID 20301609)
- Cited in: 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and… (PMID 25173338)