Gaucher Disease: Task 08 - Sequence-based mutation analysis

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LabJournal

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
371238435 465 CCT ⇒ TCT 14 Pro Ser P14S
CM880035 - CGG ⇒ CAG 159 Arg ⇒ Gln R159Q polar ⇒ polar positve ⇒ neutral
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


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]