Gaucher Disease: Task 08 - Sequence-based mutation analysis

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Revision as of 19:47, 1 July 2013 by Gerkej (talk | contribs) (Physicochemical properties and changes of 10 Mutations)

Physicochemical properties and changes of 10 Mutations

Mutations
Reference Sequence Position Codon change Codon Number Amino Acid change One letter code
blub - AGC ⇒ ATC 51 Ser ⇒ Ile S51I
rs121908304 1069 TGG ⇒ TGT 302 Trp ⇒ Cys W302C
blub
rs121908314 1244 CTC ⇒ GTC 361 Leu ⇒ Val L361V
rs121908307 1224 AGC ⇒ ACC 354 Ser ⇒ Thr S354T
blub
blub
blub
rs74500255 780 TTC ⇒ TAC 206 Phe ⇒ Tyr F206Y
rs121908301 1565 GGC ⇒ AGC 468 Gly ⇒ Ser G468S


short summary

Mutations inside the structure

pymol-image inside/outside secondary structure

Substitution and Phenotype

blossom

PSSM

Multiple Sequence Alignment

Comparison of different approaches

SIFT, Polyphen, Mutationtaster, SNAp -> one table