Summary for the 393-rd Site(W)
PID QueryLength FocusSite TITLE
2692367 631 393 W 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 393-th site VARIANT: /note="W -> G (in NPDB; low sphingomyelin degradation rates; dbSNP:rs120074125)" /id="VAR_005064"
VARIANT: /note="W -> R (in NPDA; intermediate form)" /id="VAR_077320"
HELIX:
VAR_SEQ: /note="Missing (in isoform 2)" /id="VSP_000332"
VAR_SEQ: /note="Missing (in isoform 3)" /id="VSP_000333"
CHAIN: /note="Sphingomyelin phosphodiesterase, processed form" /id="PRO_0000456684"
CHAIN: /note="Sphingomyelin phosphodiesterase" /id="PRO_0000002323"
VARIANT for 393-th site W->G LP/P dbSNP:rs1200741 " Niemann-Pick disease B (NPDB) " [MIM:607616]
W->R LP/P " Niemann-Pick disease A (NPDA) " [MIM:257200]
Evolutionary Information
Percentages of Amino Acids in Homologous Proteins [show alignment] 
Y:14% W:13% A:8% N:8% G:7% L:7% Q:6% E:6% F:6% M:5% P:5% S:5% K:2% T:2% V:2% R:1% D:1% C:1% H:1% I:1%
3D Structure Information
Template For Monomer predicted SecStr predicted ExpBur Predicted Relative Acc(%)
5jg8 G (3/10-helix) b (buried) 0.0


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