Summary for the 186-th Site(P)
PID QueryLength FocusSite TITLE
2692367 631 186 P 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 186-th site VARIANT: /note="P -> L (in NPDA; reduces enzyme activity; intermediate form with clinical features of both Niemann- Pick disease types A and B; dbSNP:rs1057517195)" /id="VAR_060877"
CHAIN: /note="Sphingomyelin phosphodiesterase" /id="PRO_0000002323"
VARIANT for 186-th site P->L LP/P dbSNP:rs1057517 " Niemann-Pick disease A (NPDA) " [MIM:257200]
Evolutionary Information
Percentages of Amino Acids in Homologous Proteins [show alignment] 
P:67% G:12% Q:11% R:10%
3D Structure Information
Template For Monomer predicted SecStr predicted ExpBur Predicted Relative Acc(%)
5jg8 (coil) e (exposed) 34.1


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