Gaucher Disease: Task 08 - Sequence-based mutation analysis
From Bioinformatikpedia
Contents
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