Summary for the 304-th Site(L)
PID QueryLength FocusSite TITLE
2692367 631 304 L 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 304-th site VARIANT: /note="L -> P (in NPDA; in 23% of NPDA Ashkenazi Jewish patients; abolishes enzyme activity; dbSNP:rs120074124)" ECO:0000269|PubMed:18815062" /id="VAR_005060"
HELIX:
CHAIN: /note="Sphingomyelin phosphodiesterase, processed form" /id="PRO_0000456684"
CHAIN: /note="Sphingomyelin phosphodiesterase" /id="PRO_0000002323"
VARIANT for 304-th site L->P LP/P dbSNP:rs1200741 " Niemann-Pick disease A (NPDA) " [MIM:257200]
Evolutionary Information
Percentages of Amino Acids in Homologous Proteins [show alignment] 
L:48% T:17% I:10% V:10% K:7% D:4% M:4%
3D Structure Information
Template For Monomer predicted SecStr predicted ExpBur Predicted Relative Acc(%)
5jg8 H (alpha-helix) b (buried) 14.0


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