A177T |
naturally occuring mutation in subunit B, the mutation is involved in auto-inflammatory disorder, Aicardi-Goutieres syndrome, AGS |
Homo sapiens |
D2Y/L3P |
naturally occuring mutation in subunit A, the mutation is involved in auto-inflammatory disorder, Aicardi-Goutieres syndrome, AGS |
Homo sapiens |
D39Y |
naturally occuring mutation in subunit C, the mutation is involved in auto-inflammatory disorder, Aicardi-Goutieres syndrome, AGS |
Homo sapiens |
F230L |
naturally occuring mutation in subunit A, the mutation is involved in auto-inflammatory disorder, Aicardi-Goutieres syndrome, AGS |
Homo sapiens |
G37S |
naturally occuring mutation in subunit A, the mutation is involved in auto-inflammatory disorder, Aicardi-Goutieres syndrome, AGS |
Homo sapiens |
G83S |
naturally occuring mutation in subunit B, the mutation is involved in auto-inflammatory disorder, Aicardi-Goutieres syndrome, AGS |
Homo sapiens |
H86R |
naturally occuring mutation in subunit B, the mutation is involved in auto-inflammatory disorder, Aicardi-Goutieres syndrome, AGS |
Homo sapiens |
K143I |
naturally occuring mutation in subunit C, the mutation is involved in auto-inflammatory disorder, Aicardi-Goutieres syndrome, AGS |
Homo sapiens |
K162T |
naturally occuring mutation in subunit B, the mutation is involved in auto-inflammatory disorder, Aicardi-Goutieres syndrome, AGS |
Homo sapiens |
L138F |
naturally occuring mutation in subunit B, the mutation is involved in auto-inflammatory disorder, Aicardi-Goutieres syndrome, AGS |
Homo sapiens |
L60R |
naturally occuring mutation in subunit B, the mutation is involved in auto-inflammatory disorder, Aicardi-Goutieres syndrome, AGS |
Homo sapiens |
additional information |
mapping of the positions of 29 mutations found in Aicardi-Goutieres syndrome patients, possible effects of these mutations on the protein stability and function, overview. Construction of deletion mutants AB14233C and ABDELTAPIPC, deletion mutant AB14-233C crystallizes more readily than the AB-PIPC and yields larger and regular crystals |
Homo sapiens |
P138L |
naturally occuring mutation in subunit C, the mutation is involved in auto-inflammatory disorder, Aicardi-Goutieres syndrome, AGS |
Homo sapiens |
P151S |
naturally occuring mutation in subunit C, the mutation is involved in auto-inflammatory disorder, Aicardi-Goutieres syndrome, AGS |
Homo sapiens |
P43H |
naturally occuring mutation in subunit B, the mutation is involved in auto-inflammatory disorder, Aicardi-Goutieres syndrome, AGS |
Homo sapiens |
P76L |
naturally occuring mutation in subunit C, the mutation is involved in auto-inflammatory disorder, Aicardi-Goutieres syndrome, AGS |
Homo sapiens |
R108W |
naturally occuring mutation in subunit A, the mutation is involved in auto-inflammatory disorder, Aicardi-Goutieres syndrome, AGS |
Homo sapiens |
R13H |
naturally occuring mutation in subunit C, the mutation is involved in auto-inflammatory disorder, Aicardi-Goutieres syndrome, AGS |
Homo sapiens |
R186W |
naturally occuring mutation in subunit A, the mutation is involved in auto-inflammatory disorder, Aicardi-Goutieres syndrome, AGS |
Homo sapiens |
R235Q |
naturally occuring mutation in subunit A, the mutation is involved in auto-inflammatory disorder, Aicardi-Goutieres syndrome, AGS |
Homo sapiens |
R291H |
naturally occuring mutation in subunit A, the mutation is involved in auto-inflammatory disorder, Aicardi-Goutieres syndrome, AGS |
Homo sapiens |
R69W |
naturally occuring mutation in subunit C, the mutation is involved in auto-inflammatory disorder, Aicardi-Goutieres syndrome, AGS |
Homo sapiens |
S159I |
naturally occuring mutation in subunit B, the mutation is involved in auto-inflammatory disorder, Aicardi-Goutieres syndrome, AGS |
Homo sapiens |
S229P |
naturally occuring mutation in subunit B, the mutation is involved in auto-inflammatory disorder, Aicardi-Goutieres syndrome, AGS |
Homo sapiens |
T163I |
naturally occuring mutation in subunit B, the mutation is involved in auto-inflammatory disorder, Aicardi-Goutieres syndrome, AGS |
Homo sapiens |
T240M |
naturally occuring mutation in subunit A, the mutation is involved in auto-inflammatory disorder, Aicardi-Goutieres syndrome, AGS |
Homo sapiens |
V183M |
naturally occuring mutation in subunit B, the mutation is involved in auto-inflammatory disorder, Aicardi-Goutieres syndrome, AGS |
Homo sapiens |
V185G |
naturally occuring mutation in subunit B, the mutation is involved in auto-inflammatory disorder, Aicardi-Goutieres syndrome, AGS |
Homo sapiens |
W73L |
naturally occuring mutation in subunit B, the mutation is involved in auto-inflammatory disorder, Aicardi-Goutieres syndrome, AGS |
Homo sapiens |
Y219H |
naturally occuring mutation in subunit B, the mutation is involved in auto-inflammatory disorder, Aicardi-Goutieres syndrome, AGS |
Homo sapiens |