Difference between revisions of "Gaucher Disease: Task 08 - Sequence-based mutation analysis"
From Bioinformatikpedia
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! style="background:#efefef;" | Mutated amino acid frequency |
! style="background:#efefef;" | Mutated amino acid frequency |
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− | | CM057078 || - ||A'''G'''C ⇒ A'''T'''C ||51 || Ser ⇒ Ile || |
+ | | CM057078 || - ||A'''G'''C ⇒ A'''T'''C ||51 || Ser ⇒ Ile || S51I || polar ⇒ nonpolar |
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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 || nonpolar ⇒ nonpolar |
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− | | CM880035 ||- ||C'''G'''G ⇒ C'''A'''G || 159 || Arg ⇒ Gln || R159Q |
+ | | CM880035 ||- ||C'''G'''G ⇒ C'''A'''G || 159 || Arg ⇒ Gln || R159Q || polar ⇒ polar |
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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 || nonpolar ⇒ nonpolar |
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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 || polar ⇒ polar |
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− | | CM960697 ||- || A'''C'''G ⇒ A'''T'''G || 408|| Thr ⇒ Met || T408M |
+ | | CM960697 ||- || A'''C'''G ⇒ A'''T'''G || 408|| Thr ⇒ Met || T408M || polar ⇒ nonpolar |
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− | | CM057072 ||- || A'''A'''C ⇒ A'''G'''C|| 501|| Asn ⇒ Ser || N501S |
+ | | CM057072 ||- || A'''A'''C ⇒ A'''G'''C|| 501|| Asn ⇒ Ser || N501S || polar ⇒ polar |
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− | | CM992894 ||- || G'''G'''A ⇒ GAA||241 || Gly ⇒ Glu || G241E |
+ | | CM992894 ||- || G'''G'''A ⇒ GAA||241 || Gly ⇒ Glu || G241E || nonpolar ⇒ polar |
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− | | [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 |
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− | | [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 |
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Revision as of 20:14, 1 July 2013
Contents
Physicochemical properties and changes of 10 Mutations
Mutations | ||||||||
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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