Gaucher Disease: Task 08 - Sequence-based mutation analysis

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Revision as of 14:32, 2 July 2013 by Gerkej (talk | contribs) (Physicochemical properties and changes of 10 Mutations)

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

hgmd

[GENE%20AND%20%22human%22[ORGN]%20AND%20%22snp%22[SNP_CLASS]%20&cmd=DetailsSearch dbSNP]