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; |
AC/ID | AC: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] |
Percentages of Amino Acids in Homologous Proteins [show alignment] |
Y:64% F:36% |
Template For Monomer | predicted SecStr | predicted ExpBur | Predicted Relative Acc(%) |
5jg8 | E (beta-strand) | b (buried) | 0.4 |
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