Summary for the 369-th Site(Y)

PID QueryLength FocusSite TITLE
2692367 631 369 Y 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 369-th site VARIANT: /note="Y -> C (in NPDA; dbSNP:rs372287825)" ECO:0000269|PubMed:27338287" /id="VAR_060900"
STRAND:
VAR_SEQ: /note="IGGFYALSPYPG -> YLSSVETQEGKR (in isoform 2)" /id="VSP_000331"
VAR_SEQ: /note="Missing (in isoform 3)" /id="VSP_000333"
CHAIN: /note="Sphingomyelin phosphodiesterase, processed form" /id="PRO_0000456684"
CHAIN: /note="Sphingomyelin phosphodiesterase" /id="PRO_0000002323"
VARIANT for 369-th site Y->C LP/P dbSNP:rs3722878 " Niemann-Pick disease A (NPDA) " [MIM:257200]
Evolutionary Information
Percentages of Amino Acids in Homologous Proteins [show alignment]
Y:64% F:36% 
3D Structure Information
Template For Monomer predicted SecStr predicted ExpBur Predicted Relative Acc(%)
5jg8 E (beta-strand) b (buried) 0.4


[Back to SiteTable]

[Back to Search Page]

[Back to Top Page]