Summary for the 610-th Site(R)
PID QueryLength FocusSite TITLE
2692367 631 610 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 610-th site VARIANT: /note="R -> C (in NPDB; uncertain significance; dbSNP:rs375915127)" /id="VAR_075335"
VARIANT: /note="Missing (in NPDB; nearly abolishes enzyme activity; some patients have a NPDA/NPDB intermediate phenotype; loss of location to lysosome)" ECO:0000269|PubMed:18815062, ECO:0000269|PubMed:1885770, ECO:0000269|PubMed:19405096, ECO:0000269|PubMed:21098024, ECO:0000269|PubMed:22818240, ECO:0000269|PubMed:23252888" /id="VAR_005068"
CHAIN: /note="Sphingomyelin phosphodiesterase, processed form" /id="PRO_0000456684"
CHAIN: /note="Sphingomyelin phosphodiesterase" /id="PRO_0000002323"
VARIANT for 610-th site R->C US dbSNP:rs3759151 " Niemann-Pick disease B (NPDB) " [MIM:607616]
Evolutionary Information
Percentages of Amino Acids in Homologous Proteins [show alignment] 
R:37% D:16% I:15% L:13% Q:11% A:1% N:1% E:1% G:1% K:1% P:1% S:1% T:1% V:1%
3D Structure Information
Template For Monomer predicted SecStr predicted ExpBur Predicted Relative Acc(%)
5jg8 G (3/10-helix) e (exposed) 54.5


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