Summary for the 535-th Site(W)
PID QueryLength FocusSite TITLE
2692367 631 535 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 535-th site VARIANT: /note="W -> R (in NPDB and NPDA; also in patients with an intermediate form; dbSNP:rs1554935555)" ECO:0000269|PubMed:15877209, ECO:0000269|PubMed:27338287" /id="VAR_060927"
CHAIN: /note="Sphingomyelin phosphodiesterase, processed form" /id="PRO_0000456684"
CHAIN: /note="Sphingomyelin phosphodiesterase" /id="PRO_0000002323"
VARIANT for 535-th site W->R LP/P dbSNP:rs1554935 " Niemann-Pick disease A (NPDA) " [MIM:257200]
W->R LP/P dbSNP:rs1554935 " Niemann-Pick disease B (NPDB) " [MIM:607616]
Evolutionary Information
Percentages of Amino Acids in Homologous Proteins [show alignment] 
W:81% Y:11% F:8%
3D Structure Information
Template For Monomer predicted SecStr predicted ExpBur Predicted Relative Acc(%)
5jg8 E (beta-strand) b (buried) 7.2


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