Fabry mutants list


keyword:

id locus base aa phenotype from to rmsd structure with_wild mut_str_feature
id locus base aa phenotype from to rmsd structure with_wild mut_str_feature
1 Exon 2 c.335G>A p.R112H later-onset R H 0.082
2 Exon 5 c.644A>G p.N215S later-onset N S 0.004 mutation of a glyco binding site
3 Exon 6 c.888G>A p.M296I later-onset M I 0.018 mutation of a buried residue
4 Exon 2 c.196G>C p.E66Q polymorphism E Q 0.048
5 Exon 3 c.427G>A p.A143T polymorphism A T 0.010
6 Exon 6 c.937G>T p.D313Y polymorphism D Y 0.095