Summary for the 324-th Site(T)
PID QueryLength FocusSite TITLE
2692367 631 324 T 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 324-th site VARIANT: /note="T -> I (in dbSNP:rs1050233)" ECO:0000269|PubMed:2555181, ECO:0000269|PubMed:26084044" /id="VAR_054643"
VARIANT: /note="T -> P (in NPDA; uncertain significance)" /id="VAR_077316"
STRAND:
CHAIN: /note="Sphingomyelin phosphodiesterase, processed form" /id="PRO_0000456684"
CHAIN: /note="Sphingomyelin phosphodiesterase" /id="PRO_0000002323"
VARIANT for 324-th site T->I LB/B dbSNP:rs1050233 " -"
T->P US " Niemann-Pick disease A (NPDA) " [MIM:257200]
Evolutionary Information
Percentages of Amino Acids in Homologous Proteins [show alignment] 
F:24% Y:19% V:15% W:12% L:10% T:8% H:7% A:1% G:1%
3D Structure Information
Template For Monomer predicted SecStr predicted ExpBur Predicted Relative Acc(%)
5jg8 S (bend) b (buried) 7.8


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