Round I Genetic Disease Changes
Disease 3-letter 1-letter
Gaucher's Disease Leu 444 => Pro L444P
Maple Syrup Urine Disease (MSUD) Tyr368 => Cys Y368C
Tumor Protein 53 (TP53) Arg 273 => His R273H
von Wilebrand Factor A1 Deficiency Cys 509 => Arg C509R
Round II Hypothetical Changes
Disease 3-letter 1-letter
Gaucher's Disease Leu 286 => Ser L286S
Maple Syrup Urine Disease (MSUD) Phe 207 => Ser F207S
Tumor Protein 53 (TP53) Phe 270 => Ser F270S
von Wilebrand Factor A1 Deficiency Ile 653 => Asn I653N
Other disesases
Disease 3-letter 1-letter
Glutathione Synthetase Deficiency Leu => Pro L188P
Methylmalonic aciduria Glu 126 => Ala E126A
Phenylketetonuria Arg 408 => Trp R408W
Porphyria cutanea tarda Leu 195 => Phe L195F
Purine nucleoside phosphorylase deficiency Glue 89 => Lys E89K
Sulfite oxidase Arg 160 => Glin R160Q
von Hippel Lindau Disease Arg 167 => Cys R167H