Difference between revisions of "Gaucher Disease: Task 08 - Sequence-based mutation analysis"
From Bioinformatikpedia
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! style="background:#efefef;" | Charge (pH) |
! style="background:#efefef;" | Charge (pH) |
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− | | [http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=371238435 rs371238435] || 465 || |
+ | | [http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=371238435 rs371238435] || 465 || <span style="color:#FF0040">'''C'''</span>CT ⇒ TCT || 14 || Pro ⇒ Ser || P14S |||| |
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− | | CM057078 || - ||A<span style="color:# |
+ | | CM057078 || - ||A<span style="color:#FF0040">'''G'''</span>C ⇒ A<span style="color:#FF0040">'''T'''</span>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=368786234 rs368786234] || 656 || |
+ | | [http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=368786234 rs368786234] || 656 || AG<span style="color:#FF0040">'''C'''</span> ⇒ AG<span style="color:#FF0040">'''A'''</span> || 77 || Ser ⇒ Arg || S77R || || |
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− | | [http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=374003673 rs374003673] || 847 || |
+ | | [http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=374003673 rs374003673] || 847 || A<span style="color:#FF0040">'''A'''</span>T ⇒ A<span style="color:#FF0040">'''G'''</span>T || 141 || Asn ⇒ Ser || N141S || || |
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− | | CM880035 ||- ||C'''G'''G ⇒ C'''A'''G || 159 || Arg ⇒ Gln || R159Q || polar ⇒ polar || positve ⇒ neutral |
+ | | CM880035 ||- ||C<span style="color:#FF0040">'''G'''</span>G ⇒ C<span style="color:#FF0040">'''A'''</span>G || 159 || Arg ⇒ Gln || R159Q || polar ⇒ polar || positve ⇒ neutral |
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− | | [http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=374591570 rs374591570] || 1062 || |
+ | | [http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=374591570 rs374591570] || 1062 || <span style="color:#FF0040">'''C'''</span>TC ⇒ <span style="color:#FF0040">'''T'''</span>TC || 213 || Leu ⇒ Phe || L213F || || |
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− | | CM992894 ||- || G'''G'''A ⇒ |
+ | | CM992894 ||- || G<span style="color:#FF0040">'''G'''</span>A ⇒ G<span style="color:#FF0040">'''A'''</span>A||241 || Gly ⇒ Glu || G241E || nonpolar ⇒ polar || neutral ⇒ negative |
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− | | [http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=371083513 rs371083513] || 1470 || |
+ | | [http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=371083513 rs371083513] || 1470 || <span style="color:#FF0040">'''G'''</span>TA ⇒ <span style="color:#FF0040">'''A'''</span>TA ||349 || Val ⇒ Ile || V349I || || |
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− | | CM960697 ||- || A'''C'''G ⇒ A'''T'''G || 408|| Thr ⇒ Met || T408M || polar ⇒ nonpolar || neutral ⇒ neutral |
+ | | CM960697 ||- || A<span style="color:#FF0040">'''C'''</span>G ⇒ A<span style="color:#FF0040">'''T'''</span>G || 408|| Thr ⇒ Met || T408M || polar ⇒ nonpolar || neutral ⇒ neutral |
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− | | CM057072 ||- || A'''A'''C ⇒ A'''G'''C|| 501|| Asn ⇒ Ser || N501S || polar ⇒ polar || neutral ⇒ neutral |
+ | | CM057072 ||- || A<span style="color:#FF0040">'''A'''</span>C ⇒ A<span style="color:#FF0040">'''G'''</span>C|| 501|| Asn ⇒ Ser || N501S || polar ⇒ polar || neutral ⇒ neutral |
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Revision as of 14:55, 6 August 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) |
rs371238435 | 465 | CCT ⇒ TCT | 14 | Pro ⇒ Ser | P14S | ||
CM057078 | - | AGC ⇒ ATC | 51 | Ser ⇒ Ile | S51I | polar ⇒ nonpolar | neutral ⇒ neutral |
rs368786234 | 656 | AGC ⇒ AGA | 77 | Ser ⇒ Arg | S77R | ||
rs374003673 | 847 | AAT ⇒ AGT | 141 | Asn ⇒ Ser | N141S | ||
CM880035 | - | CGG ⇒ CAG | 159 | Arg ⇒ Gln | R159Q | polar ⇒ polar | positve ⇒ neutral |
rs374591570 | 1062 | CTC ⇒ TTC | 213 | Leu ⇒ Phe | L213F | ||
CM992894 | - | GGA ⇒ GAA | 241 | Gly ⇒ Glu | G241E | nonpolar ⇒ polar | neutral ⇒ negative |
rs371083513 | 1470 | GTA ⇒ ATA | 349 | Val ⇒ Ile | V349I | ||
CM960697 | - | ACG ⇒ ATG | 408 | Thr ⇒ Met | T408M | polar ⇒ nonpolar | neutral ⇒ neutral |
CM057072 | - | AAC ⇒ AGC | 501 | Asn ⇒ Ser | N501S | polar ⇒ 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
References
http://en.wikipedia.org/wiki/Amino_acid
[GENE%20AND%20%22human%22[ORGN]%20AND%20%22snp%22[SNP_CLASS]%20&cmd=DetailsSearch dbSNP]