Summary for the 477-th Site(P)
PID QueryLength FocusSite TITLE
2692367 631 477 P 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 477-th site VARIANT: /note="P -> L (in NPDA and NPDB; dbSNP:rs753508874)" ECO:0000269|PubMed:12556236, ECO:0000269|PubMed:15221801, ECO:0000269|PubMed:22818240" /id="VAR_015292"
STRAND:
CHAIN: /note="Sphingomyelin phosphodiesterase, processed form" /id="PRO_0000456684"
CHAIN: /note="Sphingomyelin phosphodiesterase" /id="PRO_0000002323"
VARIANT for 477-th site P->L LP/P dbSNP:rs7535088 " Niemann-Pick disease A (NPDA) " [MIM:257200]
P->L LP/P dbSNP:rs7535088 " Niemann-Pick disease B (NPDB) " [MIM:607616]
Evolutionary Information
Percentages of Amino Acids in Homologous Proteins [show alignment] 
P:73% D:10% N:9% A:1% E:1% G:1% L:1% K:1% S:1% T:1% V:1%
3D Structure Information
Template For Monomer predicted SecStr predicted ExpBur Predicted Relative Acc(%)
5jg8 E (beta-strand) b (buried) 13.2


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