Summary for the 243-rd Site(A) |
PID | QueryLength | FocusSite | TITLE |
2692367 | 631 | 243 A | 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 243-th site |
VARIANT: /note="A -> V (in NPDA; intermediate form with clinical features of both Niemann-Pick disease types A and B; dbSNP:rs1291958011)" /id="VAR_060885" CHAIN: /note="Sphingomyelin phosphodiesterase" /id="PRO_0000002323" |
VARIANT for 243-th site |
A->V LP/P dbSNP:rs1291958 " Niemann-Pick disease A (NPDA) " [MIM:257200] |
Percentages of Amino Acids in Homologous Proteins [show alignment] |
A:67% P:11% N:7% G:5% V:5% D:4% |
Template For Monomer | predicted SecStr | predicted ExpBur | Predicted Relative Acc(%) |
5jg8 | (coil) | b (buried) | 8.0 |
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