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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+ | | 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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+ | | 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 || || A'''C'''G-A'''T'''G || 408|| || |
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Revision as of 19:50, 1 July 2013
Contents
Physicochemical properties and changes of 10 Mutations
Mutations | |||||
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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