Difference between revisions of "Gaucher Disease: Task 08 - Sequence-based mutation analysis"
From Bioinformatikpedia
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==Physicochemical properties and changes of 10 Mutations== |
==Physicochemical properties and changes of 10 Mutations== |
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− | ! colspan=" |
+ | ! colspan="8" style="background:#adceff;" | Mutations |
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! colspan="1" style="background:#adceff;" | |
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! colspan="2" style="background:#adceff;" | mRNA |
! colspan="2" style="background:#adceff;" | mRNA |
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! colspan="3" style="background:#adceff;" | Protein |
! colspan="3" style="background:#adceff;" | Protein |
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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 |
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! style="background:#efefef;" | Charge (pH) |
! style="background:#efefef;" | Charge (pH) |
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− | ! 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 |
+ | | 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
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 | 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