Gaucher Disease: Task 08 - Sequence-based mutation analysis
From Bioinformatikpedia
Contents
Physicochemical properties and changes of 10 Mutations
Mutations | |||||||
---|---|---|---|---|---|---|---|
mRNA | Protein | Properties | |||||
Reference | Sequence Position | Codon change | Codon Number | Amino Acid change | One letter code | Polarity | Charge (pH) |
CM057078 | - | AGC ⇒ ATC | 51 | Ser ⇒ Ile | S51I | polar ⇒ nonpolar | neutral ⇒ neutral |
rs121908304 | 1069 | TGG ⇒ TGT | 302 | Trp ⇒ Cys | W302C | nonpolar ⇒ nonpolar | neutral ⇒ neutral |
CM880035 | - | CGG ⇒ CAG | 159 | Arg ⇒ Gln | R159Q | polar ⇒ polar | positve ⇒ neutral |
rs121908314 | 1244 | CTC ⇒ GTC | 361 | Leu ⇒ Val | L361V | nonpolar ⇒ nonpolar | neutral ⇒ neutral |
444 | Leu ⇒ Pro | L444P | |||||
CM960697 | - | ACG ⇒ ATG | 408 | Thr ⇒ Met | T408M | polar ⇒ nonpolar | neutral ⇒ neutral |
CM057072 | - | AAC ⇒ AGC | 501 | Asn ⇒ Ser | N501S | polar ⇒ polar | neutral ⇒ neutral |
CM992894 | - | GGA ⇒ GAA | 241 | Gly ⇒ Glu | G241E | nonpolar ⇒ polar | neutral ⇒ negative |
rs74500255 | 780 | TTC ⇒ TAC | 206 | Phe ⇒ Tyr | F206Y | nonpolar ⇒ polar | neutral ⇒ neutral |
rs121908301 | 1565 | GGC ⇒ AGC | 468 | Gly ⇒ Ser | G468S | nonpolar ⇒ polar | neutral ⇒ neutral |
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
References
http://en.wikipedia.org/wiki/Amino_acid
[GENE%20AND%20%22human%22[ORGN]%20AND%20%22snp%22[SNP_CLASS]%20&cmd=DetailsSearch dbSNP]