Difference between revisions of "Gaucher Disease: Task 08 - Sequence-based mutation analysis"

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(Physicochemical properties and changes of 10 Mutations)
(Physicochemical properties and changes of 10 Mutations)
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| CM057078 || - ||A'''G'''C ⇒ A'''T'''C ||51 || Ser ⇒ Ile || S51I || polar ⇒ nonpolar || neutral ⇒ neutral
 
| CM057078 || - ||A'''G'''C ⇒ A'''T'''C ||51 || Ser ⇒ Ile || S51I || polar ⇒ nonpolar || neutral ⇒ neutral
 
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| [http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=371238435 371238435] || 465 || CCT ⇒ TCT || 14 || Pro Ser || P14S ||||
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| [http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=371238435 rs371238435] || 465 || CCT ⇒ TCT || 14 || Pro Ser || P14S ||||
 
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| CM880035 ||- ||C'''G'''G ⇒ C'''A'''G || 159 || Arg ⇒ Gln || R159Q || polar ⇒ polar || positve ⇒ neutral
 
| CM880035 ||- ||C'''G'''G ⇒ C'''A'''G || 159 || Arg ⇒ Gln || R159Q || polar ⇒ polar || positve ⇒ neutral
 
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| [http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=371083513 rs371083513] || 1470 || GTA ⇒ ATA ||349 || Val ⇒ Ile || V349I || ||
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Revision as of 14:37, 6 August 2013

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
rs371238435 465 CCT ⇒ TCT 14 Pro Ser P14S
CM880035 - CGG ⇒ CAG 159 Arg ⇒ Gln R159Q polar ⇒ polar positve ⇒ neutral
rs371083513 1470 GTA ⇒ ATA 349 Val ⇒ Ile V349I
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]