Summary for the 387-th Site(C)
PID QueryLength FocusSite TITLE
2692367 631 387 C 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 387-th site VARIANT: /note="C -> R (in NPDA)" /id="VAR_075327"
HELIX:
VAR_SEQ: /note="Missing (in isoform 2)" /id="VSP_000332"
DISULFID: ECO:0000269|PubMed:12631268, ECO:0000269|PubMed:27349982, ECO:0007744|PDB:5JG8"
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 387-th site C->R LP/P " Niemann-Pick disease A (NPDA) " [MIM:257200]
Evolutionary Information
Percentages of Amino Acids in Homologous Proteins [show alignment] 
Y:30% C:21% L:17% F:14% N:5% G:5% M:4% W:4%
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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