Summary for the 599-th Site(L) |
PID | QueryLength | FocusSite | TITLE |
2692367 | 631 | 599 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; |
AC/ID | AC:P17405 ID:ASM_HUMAN |
Feature Table for 599-th site |
VARIANT: /note="L -> F (in NPDB; uncertain significance; dbSNP:rs138531908)" /id="VAR_075334" HELIX: CHAIN: /note="Sphingomyelin phosphodiesterase, processed form" /id="PRO_0000456684" CHAIN: /note="Sphingomyelin phosphodiesterase" /id="PRO_0000002323" |
VARIANT for 599-th site |
L->F US dbSNP:rs1385319 " Niemann-Pick disease B (NPDB) " [MIM:607616] |
Percentages of Amino Acids in Homologous Proteins [show alignment] |
L:26% K:23% R:21% M:21% Q:9% |
Template For Monomer | predicted SecStr | predicted ExpBur | Predicted Relative Acc(%) |
5jg8 | H (alpha-helix) | b (buried) | 0.0 |
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