Summary for the 248-th Site(E) |
PID | QueryLength | FocusSite | TITLE |
2692367 | 631 | 248 E | 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 248-th site |
VARIANT: /note="E -> K (in NPDA; dbSNP:rs200763423)" /id="VAR_060888" VARIANT: /note="E -> Q (in NPDB; 30% residual activity; dbSNP:rs200763423)" /id="VAR_005059" CHAIN: /note="Sphingomyelin phosphodiesterase" /id="PRO_0000002323" |
VARIANT for 248-th site |
E->Q LP/P dbSNP:rs2007634 " Niemann-Pick disease B (NPDB) " [MIM:607616] E->K LP/P dbSNP:rs2007634 " Niemann-Pick disease A (NPDA) " [MIM:257200] |
Percentages of Amino Acids in Homologous Proteins [show alignment] |
D:23% E:13% H:13% N:12% S:11% R:7% P:6% M:5% K:4% T:4% |
Template For Monomer | predicted SecStr | predicted ExpBur | Predicted Relative Acc(%) |
5jg8 | (coil) | b (buried) | 18.6 |
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