Summary for the 283-rd Site(A)
PID QueryLength FocusSite TITLE
2692367 631 283 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 283-th site VARIANT: /note="A -> T (in NPDB; expresses protein level comparable to wild-type SMPD1 expressing cells; retains no enzyme activity; dbSNP:rs752148586)" ECO:0000269|PubMed:16010684" /id="VAR_060891"
CHAIN: /note="Sphingomyelin phosphodiesterase, processed form" /id="PRO_0000456684"
CHAIN: /note="Sphingomyelin phosphodiesterase" /id="PRO_0000002323"
VARIANT for 283-th site A->T LP/P dbSNP:rs7521485 " Niemann-Pick disease B (NPDB) " [MIM:607616]
Evolutionary Information
Percentages of Amino Acids in Homologous Proteins [show alignment] 
R:38% P:32% A:12% G:7% N:5% S:5%
3D Structure Information
Template For Monomer predicted SecStr predicted ExpBur Predicted Relative Acc(%)
5jg8 (coil) b (buried) 3.6


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