Summary for the 246-th Site(W)
PID QueryLength FocusSite TITLE
2692367 631 246 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 246-th site VARIANT: /note="W -> C (in NPDB; expresses protein level comparable to wild-type SMPD1 expressing cells; retains no enzyme activity)" ECO:0000269|PubMed:16010684" /id="VAR_060886"
CHAIN: /note="Sphingomyelin phosphodiesterase" /id="PRO_0000002323"
VARIANT for 246-th site W->C LP/P " Niemann-Pick disease B (NPDB) " [MIM:607616]
Evolutionary Information
Percentages of Amino Acids in Homologous Proteins [show alignment] 
W:38% F:27% Y:11% I:9% L:9% G:5%
3D Structure Information
Template For Monomer predicted SecStr predicted ExpBur Predicted Relative Acc(%)
5jg8 T (Hbond turn) b (buried) 16.3


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