Summary for the 476-th Site(R)
PID QueryLength FocusSite TITLE
2692367 631 476 R 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 476-th site VARIANT: /note="R -> Q (in NPDB; uncertain significance; dbSNP:rs763566905)" /id="VAR_075328"
VARIANT: /note="R -> W (in NPDB; some patients have a NPDA/NPDB intermediate phenotype; dbSNP:rs182812968)" ECO:0000269|PubMed:15877209, ECO:0000269|PubMed:19405096, ECO:0000269|PubMed:23252888" /id="VAR_060914"
STRAND:
CHAIN: /note="Sphingomyelin phosphodiesterase, processed form" /id="PRO_0000456684"
CHAIN: /note="Sphingomyelin phosphodiesterase" /id="PRO_0000002323"
VARIANT for 476-th site R->W LP/P dbSNP:rs1828129 " Niemann-Pick disease B (NPDB) " [MIM:607616]
R->Q US dbSNP:rs7635669 " Niemann-Pick disease B (NPDB) " [MIM:607616]
Evolutionary Information
Percentages of Amino Acids in Homologous Proteins [show alignment] 
R:26% N:17% K:11% S:10% I:8% T:8% E:7% A:6% D:1% Q:1% G:1% L:1% F:1% P:1% V:1%
3D Structure Information
Template For Monomer predicted SecStr predicted ExpBur Predicted Relative Acc(%)
5jg8 S (bend) e (exposed) 37.2
3D Complex Information
Predicted Bind Molecules
metal:1
Templates for 3D complexes
metal [CL ] 5fic_A_1_P_1


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