Summary for the 423-rd Site(H)
PID QueryLength FocusSite TITLE
2692367 631 423 H 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 423-th site VARIANT: /note="H -> R (in NPDA; dbSNP:rs767492080)" /id="VAR_060906"
VARIANT: /note="H -> Y (in NPDB; abolishes enzyme activity; dbSNP:rs120074126)" ECO:0000269|PubMed:18815062" /id="VAR_015290"
STRAND:
CHAIN: /note="Sphingomyelin phosphodiesterase, processed form" /id="PRO_0000456684"
CHAIN: /note="Sphingomyelin phosphodiesterase" /id="PRO_0000002323"
VARIANT for 423-th site H->Y LP/P dbSNP:rs1200741 " Niemann-Pick disease B (NPDB) " [MIM:607616]
H->R LP/P dbSNP:rs7674920 " Niemann-Pick disease A (NPDA) " [MIM:257200]
Evolutionary Information
Percentages of Amino Acids in Homologous Proteins [show alignment] 
W:37% Y:35% H:18% I:5% L:5%
3D Structure Information
Template For Monomer predicted SecStr predicted ExpBur Predicted Relative Acc(%)
5jg8 E (beta-strand) b (buried) 0.5


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