Summary for the 248-th Site(E)
PID QueryLength FocusSite TITLE
2692367 631 248 E 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 248-th site VARIANT: /note="E -> K (in NPDA; dbSNP:rs200763423)" /id="VAR_060888"
VARIANT: /note="E -> Q (in NPDB; 30% residual activity; dbSNP:rs200763423)" /id="VAR_005059"
CHAIN: /note="Sphingomyelin phosphodiesterase" /id="PRO_0000002323"
VARIANT for 248-th site E->Q LP/P dbSNP:rs2007634 " Niemann-Pick disease B (NPDB) " [MIM:607616]
E->K LP/P dbSNP:rs2007634 " Niemann-Pick disease A (NPDA) " [MIM:257200]
Evolutionary Information
Percentages of Amino Acids in Homologous Proteins [show alignment] 
D:23% E:13% H:13% N:12% S:11% R:7% P:6% M:5% K:4% T:4%
3D Structure Information
Template For Monomer predicted SecStr predicted ExpBur Predicted Relative Acc(%)
5jg8 (coil) b (buried) 18.6


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