Summary for the 294-th Site(Q)
PID QueryLength FocusSite TITLE
2692367 631 294 Q RecName: Full=Sphingomyelin phosphodiesterase ; EC=3.1.4.12 ; EC=3.1.4.3 ;AltName: Full=Acid sphingomyelinase ; Short=aSMase;Contains: RecName: Full=Sphingomyelin phosphodiesterase, processed form ;Flags: Precursor;
UniProt Information
AC/IDAC:P17405 ID:ASM_HUMAN
Feature Table for 294-th site VARIANT: /note="Q -> K (in NPDA; strongly reduces enzyme activity; intermediate form with clinical features of both Niemann- Pick disease types A and B; dbSNP:rs120074128)" ECO:0000269|PubMed:15877209, ECO:0000269|PubMed:9266408" /id="VAR_060893"
HELIX:
CHAIN: /note="Sphingomyelin phosphodiesterase, processed form" /id="PRO_0000456684"
CHAIN: /note="Sphingomyelin phosphodiesterase" /id="PRO_0000002323"
VARIANT for 294-th site Q->K LP/P dbSNP:rs1200741 " Niemann-Pick disease A (NPDA) " [MIM:257200]
Evolutionary Information
Percentages of Amino Acids in Homologous Proteins [show alignment] 
Q:31% I:15% A:13% V:11% H:10% T:8% P:5% K:4% G:1% L:1%
3D Structure Information
Template For Monomer predicted SecStr predicted ExpBur Predicted Relative Acc(%)
5jg8 H (alpha-helix) b (buried) 4.6


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