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

From Bioinformatikpedia
(Physicochemical properties and changes of 10 Mutations)
(Physicochemical properties and changes of 10 Mutations)
Line 19: Line 19:
 
! style="background:#efefef;" | Mutated amino acid frequency
 
! style="background:#efefef;" | Mutated amino acid frequency
 
|-
 
|-
| CM057078 || - ||A'''G'''C ⇒ A'''T'''C ||51 || Ser ⇒ Ile || !style="background:#adceff;" S51I
+
| CM057078 || - ||A'''G'''C ⇒ A'''T'''C ||51 || Ser ⇒ Ile || S51I || polar ⇒ nonpolar
 
|-
 
|-
| [http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=121908304 rs121908304] || 1069||TG'''G''' ⇒ TG'''T''' || 302|| Trp ⇒ Cys || W302C
+
| [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
 
|-
 
|-
| CM880035 ||- ||C'''G'''G ⇒ C'''A'''G || 159 || Arg ⇒ Gln || R159Q
+
| CM880035 ||- ||C'''G'''G ⇒ C'''A'''G || 159 || Arg ⇒ Gln || R159Q || polar ⇒ polar
 
|-
 
|-
| [http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=121908314 rs121908314]|| 1244|| '''C'''TC ⇒ '''G'''TC ||361 || Leu ⇒ Val || L361V
+
| [http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=121908314 rs121908314]|| 1244|| '''C'''TC ⇒ '''G'''TC ||361 || Leu ⇒ Val || L361V || nonpolar ⇒ nonpolar
 
|-
 
|-
| [http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=121908307 rs121908307 ] ||1224 ||A'''G'''C ⇒ A'''C'''C ||354 || Ser ⇒ Thr || S354T
+
| [http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=121908307 rs121908307 ] ||1224 ||A'''G'''C ⇒ A'''C'''C ||354 || Ser ⇒ Thr || S354T || polar ⇒ polar
 
|-
 
|-
| CM960697 ||- || A'''C'''G ⇒ A'''T'''G || 408|| Thr ⇒ Met || T408M
+
| CM960697 ||- || A'''C'''G ⇒ A'''T'''G || 408|| Thr ⇒ Met || T408M || polar ⇒ nonpolar
 
|-
 
|-
| CM057072 ||- || A'''A'''C ⇒ A'''G'''C|| 501|| Asn ⇒ Ser || N501S
+
| CM057072 ||- || A'''A'''C ⇒ A'''G'''C|| 501|| Asn ⇒ Ser || N501S || polar ⇒ polar
 
|-
 
|-
| CM992894 ||- || G'''G'''A ⇒ GAA||241 || Gly ⇒ Glu || G241E
+
| CM992894 ||- || G'''G'''A ⇒ GAA||241 || Gly ⇒ Glu || G241E || nonpolar ⇒ polar
 
|-
 
|-
| [http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=74500255 rs74500255] || 780|| T'''T'''C ⇒ T'''A'''C|| 206|| Phe ⇒ Tyr || F206Y
+
| [http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=74500255 rs74500255] || 780|| T'''T'''C ⇒ T'''A'''C|| 206|| Phe ⇒ Tyr || F206Y || nonpolar ⇒ polar
 
|-
 
|-
| [http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=121908301 rs121908301] || 1565||'''G'''GC ⇒ '''A'''GC ||468 || Gly ⇒ Ser || G468S
+
| [http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=121908301 rs121908301] || 1565||'''G'''GC ⇒ '''A'''GC ||468 || Gly ⇒ Ser || G468S || nonpolar ⇒ polar
 
|-
 
|-
 
|}
 
|}

Revision as of 20:14, 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 pH value Mutated amino acid frequency
CM057078 - AGC ⇒ ATC 51 Ser ⇒ Ile S51I polar ⇒ nonpolar
rs121908304 1069 TGG ⇒ TGT 302 Trp ⇒ Cys W302C nonpolar ⇒ nonpolar
CM880035 - CGG ⇒ CAG 159 Arg ⇒ Gln R159Q polar ⇒ polar
rs121908314 1244 CTC ⇒ GTC 361 Leu ⇒ Val L361V nonpolar ⇒ nonpolar
rs121908307 1224 AGC ⇒ ACC 354 Ser ⇒ Thr S354T polar ⇒ polar
CM960697 - ACG ⇒ ATG 408 Thr ⇒ Met T408M polar ⇒ nonpolar
CM057072 - AAC ⇒ AGC 501 Asn ⇒ Ser N501S polar ⇒ polar
CM992894 - GGA ⇒ GAA 241 Gly ⇒ Glu G241E nonpolar ⇒ polar
rs74500255 780 TTC ⇒ TAC 206 Phe ⇒ Tyr F206Y nonpolar ⇒ polar
rs121908301 1565 GGC ⇒ AGC 468 Gly ⇒ Ser G468S nonpolar ⇒ polar


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