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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==Physicochemical properties and changes of 10 Mutations==
 
==Physicochemical properties and changes of 10 Mutations==
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{| border="1" cellpadding="8" cellspacing="0" align="center"
 
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! colspan="9" style="background:#adceff;" | Mutations
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! colspan="8" style="background:#adceff;" | Mutations
 
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! colspan="1" style="background:#adceff;" |
 
! colspan="1" style="background:#adceff;" |
 
! colspan="2" style="background:#adceff;" | mRNA
 
! colspan="2" style="background:#adceff;" | mRNA
 
! colspan="3" style="background:#adceff;" | Protein
 
! colspan="3" style="background:#adceff;" | Protein
! colspan="3" style="background:#adceff;" | Properties
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! colspan="2" style="background:#adceff;" | Properties
 
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! style="background:#efefef;" | Reference
 
! style="background:#efefef;" | Reference
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! style="background:#efefef;" | Polarity
 
! style="background:#efefef;" | Polarity
 
! style="background:#efefef;" | Charge (pH)
 
! style="background:#efefef;" | Charge (pH)
! style="background:#efefef;" | Mutated amino acid frequency
 
 
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| CM057078 || - ||A'''G'''C ⇒ A'''T'''C ||51 || Ser ⇒ Ile || S51I || polar ⇒ nonpolar || neutral ⇒ neutral
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| 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=121908304 rs121908304] || 1069||TG'''G''' ⇒ TG'''T''' || 302|| Trp ⇒ Cys || W302C || nonpolar ⇒ nonpolar || neutral ⇒ neutral
 
| [http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=121908304 rs121908304] || 1069||TG'''G''' ⇒ TG'''T''' || 302|| Trp ⇒ Cys || W302C || nonpolar ⇒ nonpolar || neutral ⇒ neutral

Revision as of 20:25, 1 July 2013

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
rs121908307 1224 AGC ⇒ ACC 354 Ser ⇒ Thr S354T polar ⇒ polar neutral ⇒ 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
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