Summary for the 384-th Site(M)
PID QueryLength FocusSite TITLE
2692367 631 384 M 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 384-th site VARIANT: /note="M -> I (in NPDA and NPDB; dbSNP:rs120074121)" ECO:0000269|PubMed:1618760" /id="VAR_005061"
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 384-th site M->I LP/P dbSNP:rs1200741 " Niemann-Pick disease A (NPDA) " [MIM:257200]
M->I LP/P dbSNP:rs1200741 " Niemann-Pick disease B (NPDB) " [MIM:607616]
Evolutionary Information
Percentages of Amino Acids in Homologous Proteins [show alignment] 
T:83% M:12% N:5%
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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