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 |
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 |
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 |