Summary for the 253-rd Site(D)
PID QueryLength FocusSite TITLE
2692367 631 253 D 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 253-th site VARIANT: /note="D -> E (in NPDA; strongly reduces enzyme activity; intermediate form with clinical features of both Niemann- Pick disease types A and B)" /id="VAR_060889"
VARIANT: /note="D -> H (in NPDA; results in loss of activity; dbSNP:rs398123479)" /id="VAR_068436"
MUTAGEN: /note="D->A: Abolished cleavage by CASP7."
SITE: /note="Cleavage; by CASP7"
CHAIN: /note="Sphingomyelin phosphodiesterase" /id="PRO_0000002323"
VARIANT for 253-th site D->E LP/P " Niemann-Pick disease A (NPDA) " [MIM:257200]
D->H LP/P dbSNP:rs3981234 " Niemann-Pick disease A (NPDA) " [MIM:257200]
Evolutionary Information
Percentages of Amino Acids in Homologous Proteins [show alignment] 
D:100%
3D Structure Information
Template For Monomer predicted SecStr predicted ExpBur Predicted Relative Acc(%)
5jg8 (coil) b (buried) 0.0


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