R647Q_human-PREPL

Gene Locus : human-PREPL

Mode of mutation : Natural mutant

Disease : Myasthenic syndrome, congenital, 22\; CMS22

Summary :

AAA Change :

Allelic Variant :

Risk Factor :

Inhibitor :

Structure :

Disease by interaction :

Interact Gene Locus :

Xenobiotic sensitivity :

Modification :

Torpedo_number : No torpedo number

Kinetic Parameter : No kinetic parameter

News : No news

Comment : c.1940G>A (p.Arg647Gln) mutation inherited from both parent carriers. The patient showed global muscle hypotonia with limited spontaneous movement and decreased deep tendon reflex. The patient also had multiple additional anomalies, including hearing disturbance, supravalvular aortic stenosis, a tethered spinal cord, cryptorchidism, and duplex kidney. At 2 years old, the patient presented with global developmental delay, barely sat with support, and only spoke a single word