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)
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! style="background:#efefef;" | One letter code
 
! style="background:#efefef;" | One letter code
 
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| blub || - ||A'''G'''C ⇒ A'''T'''C ||51 || Ser ⇒ Ile || S51I
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| CM057078 || - ||A'''G'''C ⇒ A'''T'''C ||51 || Ser ⇒ Ile || S51I
 
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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
 
| [http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=121908304 rs121908304] || 1069||TG'''G''' ⇒ TG'''T''' || 302|| Trp ⇒ Cys || W302C
 
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| blub || || || || ||
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| CM880035 ||- ||C'''G'''G ⇒ C'''A'''G || 159 || Arg ⇒ Gln || R159Q
 
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| [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
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| [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
 
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|-
| blub || || || || ||
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| blub || || A'''C'''G-A'''T'''G || 408|| ||
 
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| blub || || || || ||
 
| blub || || || || ||

Revision as of 19:50, 1 July 2013

Physicochemical properties and changes of 10 Mutations

Mutations
Reference Sequence Position Codon change Codon Number Amino Acid change One letter code
CM057078 - AGC ⇒ ATC 51 Ser ⇒ Ile S51I
rs121908304 1069 TGG ⇒ TGT 302 Trp ⇒ Cys W302C
CM880035 - CGG ⇒ CAG 159 Arg ⇒ Gln R159Q
rs121908314 1244 CTC ⇒ GTC 361 Leu ⇒ Val L361V
rs121908307 1224 AGC ⇒ ACC 354 Ser ⇒ Thr S354T
blub ACG-ATG 408
blub
blub
rs74500255 780 TTC ⇒ TAC 206 Phe ⇒ Tyr F206Y
rs121908301 1565 GGC ⇒ AGC 468 Gly ⇒ Ser G468S


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