Canavan Task 6 - Sequence-based mutation analysis
From Bioinformatikpedia
Protocol
Further information can be found in the protocol.
Choosing mutations
mutant | E285A | A305E | G123E | R71H | R71C | K213E | V278M | A93A | T277T | P280P |
known effect | 1% activity in Ashkenazi Jews | 0% activity in non-Ashkenazi | 25% | Canavan Disease | not disease related | Canavan Disease | not disease related | synonymous SNPs - not disease related | synonymous SNPs - not disease related | synonymous SNPs - not disease related |
structural location | helix - binding pocket | loop C-terminus | beta-sheet | active site | active site | loop region | loop region | outer helix | outer loop | outer loop |
Physico-chemical effects
mutation | Amino acid | Hydrophobicity (and diff.) | Volume [Å3] (and diff.) | Isoelectric point pI(Charge) | Grantham Score | |||
E285A | glutamic acid | -3.5 (polar) | 5.3 | 138.4 (bulky) | 49.8 | 3.2 (negative) | 2.8 | 107 |
alanine | 1.8 (nonpolar) | 88.6 (tiny) | 6.0 (neutral) | |||||
A305E | alanine | 1.8 (nonpolar) | 5.3 | 88.6 (tiny) | 49.8 | 6.0 (neutral) | 2.8 | 107 |
glutamic acid | -3.5 (polar) | 138.4 (bulky) | 3.2 (negative) | |||||
G123E | Glycine | -0.4 (nonpolar) | 3.1 | 60.1 (tiny) | 78.3 | 6.0 (neutral) | 2.8 | 98 |
glutamic acid | -3.5 (polar) | 138.4 (bulky) | 3.2 (negative) | |||||
R71H | Arginine | -4.5 (polar) | 1.3 | 173.4 (bulky) | 20.2 | 10.8 (positive) | 3.2 | 29 |
Histidine | -3.2 (polar) | 153.2 (bulky) | 7.6 (neutral) | |||||
R71H | Arginine | -4.5 (polar) | 1.3 | 173.4 (bulky) | 20.2 | 10.8 (positive) | 3.2 | 29 |
Histidine | -3.2 (polar) | 153.2 (bulky) | 7.6 (neutral) |
conservative (0-50), moderately conservative (51-100), moderately radical (101-150), or radical (≥151) according to the classification proposed by