Summary for the 186-th Site(P) |
PID | QueryLength | FocusSite | TITLE |
2692367 | 631 | 186 P | 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 186-th site |
VARIANT: /note="P -> L (in NPDA; reduces enzyme activity; intermediate form with clinical features of both Niemann- Pick disease types A and B; dbSNP:rs1057517195)" /id="VAR_060877" CHAIN: /note="Sphingomyelin phosphodiesterase" /id="PRO_0000002323" |
VARIANT for 186-th site |
P->L LP/P dbSNP:rs1057517 " Niemann-Pick disease A (NPDA) " [MIM:257200] |
Percentages of Amino Acids in Homologous Proteins [show alignment] |
P:67% G:12% Q:11% R:10% |
Template For Monomer | predicted SecStr | predicted ExpBur | Predicted Relative Acc(%) |
5jg8 | (coil) | e (exposed) | 34.1 |
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