Dec 2, 2021 · This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 355 of the MET protein (p.Glu355Lys). This variant is …

Feb 10, 2021 · The functional impact has been assessed by transfection in CHO cells, showing lack of αIIbβ3 surface expression with the Glu355Lys mutant (PMIDs: 11122161, 12362239).

Residue change: From Glutamate (E) to Lysine (K) at position 355 (E355K, p.Glu355Lys). Indicates the amino acid change of the variant.

This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 355 of the SGSH protein (p.Glu355Lys). This variant is present in …

Peak 2: heparin disaccharide I-S. c Main results of whole exome sequencing identifying SGSH heterozygous G > A change at nucleotide c.1063G > A (p.Glu355Lys, OMIM: 252900, …

This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 355 of the FH protein (p.Glu355Lys). This variant is not present in …

This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 355 of the IFIH1 protein (p.Glu355Lys). This variant is not present in …

Mar 29, 2011 · Fumarate hydratase deficiency is an autosomal recessive trait presenting as metabolic disorder with severe encephalopathy, seizures and poor neurological outcome. …

Aug 18, 2021 · understanding of the neuronal pathogenesis associated with GM3SD.

Fumarate hydratase deficiency is an autosomal recessive trait presenting as metabolic disorder with severe encephalopathy, seizures and poor neurological outcome. Heterozygous …