Summary for the 243-rd Site(A)
PID QueryLength FocusSite TITLE
2692367 631 243 A 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 243-th site VARIANT: /note="A -> V (in NPDA; intermediate form with clinical features of both Niemann-Pick disease types A and B; dbSNP:rs1291958011)" /id="VAR_060885"
CHAIN: /note="Sphingomyelin phosphodiesterase" /id="PRO_0000002323"
VARIANT for 243-th site A->V LP/P dbSNP:rs1291958 " Niemann-Pick disease A (NPDA) " [MIM:257200]
Evolutionary Information
Percentages of Amino Acids in Homologous Proteins [show alignment] 
A:67% P:11% N:7% G:5% V:5% D:4%
3D Structure Information
Template For Monomer predicted SecStr predicted ExpBur Predicted Relative Acc(%)
5jg8 (coil) b (buried) 8.0


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