Gaucher Disease: Task 08 - Sequence-based mutation analysis

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Revision as of 21:21, 30 August 2013 by Gerkej (talk | contribs) (Mutations inside the structure)

LabJournal

Mutations

Mutations
mRNA Protein Properties
Reference Sequence Position Codon change Codon Number Amino Acid change One letter code Polarity Charge (pH)
rs368786234 656 AGC ⇒ AGA 77 Ser ⇒ Arg S77R polar ⇒ polar neutral ⇒ positive
rs374003673 847 AAT ⇒ AGT 141 Asn ⇒ Ser N141S polar ⇒ polar neutral ⇒ neutral
CM880035 - CGG ⇒ CAG 159 Arg ⇒ Gln R159Q polar ⇒ polar positve ⇒ neutral
rs374591570 1062 CTC ⇒ TTC 213 Leu ⇒ Phe L213F nonpolar ⇒ nonpolar neutral ⇒ neutral
CM992894 - GGA ⇒ GAA 241 Gly ⇒ Glu G241E nonpolar ⇒ polar neutral ⇒ negative
rs371083513 1470 GTA ⇒ ATA 349 Val ⇒ Ile V349I nonpolar ⇒ nonpolar neutral ⇒ neutral
CM960697 - ACG ⇒ ATG 408 Thr ⇒ Met T408M polar ⇒ nonpolar neutral ⇒ neutral
CM880036 - AAC ⇒ AGC 409 Asn ⇒ Ser N409S polar ⇒ polar neutral ⇒ neutral
CM870010 - CTG ⇒ CCG 483 Leu ⇒ Pro L483P nonpolar ⇒ nonpolar neutral ⇒ neutral
CM057072 - AAC ⇒ AGC 501 Asn ⇒ Ser N501S polar ⇒ polar neutral ⇒ neutral

Properties and conservations

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]