Summary for the 227-th Site(L)
PID QueryLength FocusSite TITLE
2692367 631 227 L 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 227-th site VARIANT: /note="L -> M (in NPDB)" /id="VAR_060880"
VARIANT: /note="L -> P (in NPDB; expresses protein level comparable to wild-type SMPD1 expressing cells; retains no enzyme activity; dbSNP:rs764317969)" ECO:0000269|PubMed:16010684" /id="VAR_060881"
STRAND:
CHAIN: /note="Sphingomyelin phosphodiesterase" /id="PRO_0000002323"
VARIANT for 227-th site L->M LP/P " Niemann-Pick disease B (NPDB) " [MIM:607616]
L->P LP/P dbSNP:rs7643179 " Niemann-Pick disease B (NPDB) " [MIM:607616]
Evolutionary Information
Percentages of Amino Acids in Homologous Proteins [show alignment] 
L:22% V:17% C:10% Y:8% Q:7% K:6% M:6% A:3% G:3% R:2% N:2% D:2% E:2% I:2% P:2% S:2% T:2% H:1% F:1%
3D Structure Information
Template For Monomer predicted SecStr predicted ExpBur Predicted Relative Acc(%)
5jg8 S (bend) b (buried) 0.0


[Back to SiteTable]
[Back to Search Page]
[Back to Top Page]