Summary for the 602-nd Site(R)
PID QueryLength FocusSite TITLE
2692367 631 602 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 602-th site VARIANT: /note="R -> H (in NPDB and NPDA; expresses protein level comparable to wild-type SMPD1 expressing cells; retains about 10% residual enzyme activity; loss of location to lysosome; dbSNP:rs370129081)" ECO:0000269|PubMed:16010684, ECO:0000269|PubMed:21098024, ECO:0000269|PubMed:27338287" /id="VAR_060932"
VARIANT: /note="R -> P (in NPDB; expresses protein level comparable to wild-type SMPD1 expressing cells; retains very low enzyme activity; loss of location to lysosome)" ECO:0000269|PubMed:16010684, ECO:0000269|PubMed:21098024" /id="VAR_060933"
STRAND:
CHAIN: /note="Sphingomyelin phosphodiesterase, processed form" /id="PRO_0000456684"
CHAIN: /note="Sphingomyelin phosphodiesterase" /id="PRO_0000002323"
VARIANT for 602-th site R->H LP/P dbSNP:rs3701290 " Niemann-Pick disease A (NPDA) " [MIM:257200]
R->H LP/P dbSNP:rs3701290 " Niemann-Pick disease B (NPDB) " [MIM:607616]
R->P LP/P " Niemann-Pick disease B (NPDB) " [MIM:607616]
Evolutionary Information
Percentages of Amino Acids in Homologous Proteins [show alignment] 
R:31% D:29% A:20% H:13% M:7%
3D Structure Information
Template For Monomer predicted SecStr predicted ExpBur Predicted Relative Acc(%)
5jg8 S (bend) b (buried) 7.9


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