Gaucher Disease: Task 08 - Sequence-based mutation analysis
From Bioinformatikpedia
Contents
Mutations
Mutations | |||||||
---|---|---|---|---|---|---|---|
mRNA | Protein | Properties | |||||
Reference | Sequence Position | Codon change | Codon Number | Amino Acid change | One letter code | Polarity | Charge (pH) |
rs368786234 | 656 | AGC ⇒ AGA | 77 | Ser ⇒ Arg | S77R | polar ⇒ polar | neutral ⇒ positive |
rs374003673 | 847 | AAT ⇒ AGT | 141 | Asn ⇒ Ser | N141S | polar ⇒ polar | neutral ⇒ neutral |
CM880035 | - | CGG ⇒ CAG | 159 | Arg ⇒ Gln | R159Q | polar ⇒ polar | positve ⇒ neutral |
rs374591570 | 1062 | CTC ⇒ TTC | 213 | Leu ⇒ Phe | L213F | nonpolar ⇒ nonpolar | neutral ⇒ neutral |
CM992894 | - | GGA ⇒ GAA | 241 | Gly ⇒ Glu | G241E | nonpolar ⇒ polar | neutral ⇒ negative |
rs371083513 | 1470 | GTA ⇒ ATA | 349 | Val ⇒ Ile | V349I | nonpolar ⇒ nonpolar | neutral ⇒ neutral |
CM960697 | - | ACG ⇒ ATG | 408 | Thr ⇒ Met | T408M | polar ⇒ nonpolar | neutral ⇒ neutral |
CM880036 | - | AAC ⇒ AGC | 409 | Asn ⇒ Ser | N409S | polar ⇒ polar | neutral ⇒ neutral |
CM870010 | - | CTG ⇒ CCG | 483 | Leu ⇒ Pro | L483P | nonpolar ⇒ nonpolar | neutral ⇒ neutral |
CM057072 | - | AAC ⇒ AGC | 501 | Asn ⇒ Ser | N501S | polar ⇒ polar | neutral ⇒ neutral |
Properties and conservations
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]