Summary for the 230-th Site(R)
PID QueryLength FocusSite TITLE
2692367 631 230 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 230-th site VARIANT: /note="R -> C (in NPDB and NPDA; some patients have a NPDA/ NPDB intermediate phenotype; dbSNP:rs989639224 and dbSNP:rs1057516483)" ECO:0000269|PubMed:19405096, ECO:0000269|PubMed:22818240, ECO:0000269|PubMed:23252888, ECO:0000269|PubMed:27338287" /id="VAR_060882"
VARIANT: /note="R -> H (in NPDA; intermediate form with clinical features of both Niemann-Pick disease types A and B; dbSNP:rs141387770)" /id="VAR_060883"
CHAIN: /note="Sphingomyelin phosphodiesterase" /id="PRO_0000002323"
VARIANT for 230-th site R->C LP/P dbSNP:rs9896392 " Niemann-Pick disease A (NPDA) " [MIM:257200]
R->C LP/P dbSNP:rs9896392 " Niemann-Pick disease B (NPDB) " [MIM:607616]
R->H LP/P dbSNP:rs1413877 " Niemann-Pick disease A (NPDA) " [MIM:257200]
Evolutionary Information
Percentages of Amino Acids in Homologous Proteins [show alignment] 
R:42% H:21% S:11% D:8% A:5% L:2% N:1% Q:1% E:1% G:1% I:1% K:1% F:1% P:1% T:1% Y:1% V:1%
3D Structure Information
Template For Monomer predicted SecStr predicted ExpBur Predicted Relative Acc(%)
5jg8 B (beta-bridge) b (buried) 2.4


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