Summary for the 484-th Site(A)

PID QueryLength FocusSite TITLE
2692367 631 484 A 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 484-th site VARIANT: /note="A -> E (in NPDA; dbSNP:rs267607075)" /id="VAR_060916"
CHAIN: /note="Sphingomyelin phosphodiesterase, processed form" /id="PRO_0000456684"
CHAIN: /note="Sphingomyelin phosphodiesterase" /id="PRO_0000002323"
VARIANT for 484-th site A->E LP/P dbSNP:rs2676070 " Niemann-Pick disease A (NPDA) " [MIM:257200]
Evolutionary Information
Percentages of Amino Acids in Homologous Proteins [show alignment]
A:42% S:19% T:16% G:10% V:7% E:1% L:1% K:1% 
3D Structure Information
Template For Monomer predicted SecStr predicted ExpBur Predicted Relative Acc(%)
5jg8 E (beta-strand) b (buried) 0.0


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