rs121908457
This is a variant in the MYOT gene that changes a serine to an phenylalanine.
▶ClinVar annotation
Distal amyotrophy; Distal lower limb muscle weakness; EMG: myopathic abnormalities; Fatty replacement of skeletal muscle; Foot dorsiflexor weakness; Lower limb pain; Muscle fiber inclusion bodies; Myofibrillar myopathy 3 (MFM3); Progressive distal muscle weakness; Progressive proximal muscle weakness; Urinary bladder sphincter dysfunction
View on ClinVar →About MYOT
This gene encodes a cystoskeletal protein which plays a significant role in the stability of thin filaments during muscle contraction. This protein binds F-actin, crosslinks actin filaments, and prevents latrunculin A-induced filament disassembly. Mutations in this gene have been associated with limb-girdle muscular dystrophy and myofibrillar myopathies. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined.[provided by RefSeq, Oct 2008]
View all MYOT variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…