Summary for the 393-rd Site(W) |
PID | QueryLength | FocusSite | TITLE |
2692367 | 631 | 393 W | 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 393-th site |
VARIANT: /note="W -> G (in NPDB; low sphingomyelin degradation rates; dbSNP:rs120074125)" /id="VAR_005064" VARIANT: /note="W -> R (in NPDA; intermediate form)" /id="VAR_077320" HELIX: VAR_SEQ: /note="Missing (in isoform 2)" /id="VSP_000332" 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 393-th site |
W->G LP/P dbSNP:rs1200741 " Niemann-Pick disease B (NPDB) " [MIM:607616] W->R LP/P " Niemann-Pick disease A (NPDA) " [MIM:257200] |
Percentages of Amino Acids in Homologous Proteins [show alignment] |
Y:14% W:13% A:8% N:8% G:7% L:7% Q:6% E:6% F:6% M:5% P:5% S:5% K:2% T:2% V:2% R:1% D:1% C:1% H:1% I:1% |
Template For Monomer | predicted SecStr | predicted ExpBur | Predicted Relative Acc(%) |
5jg8 | G (3/10-helix) | b (buried) | 0.0 |
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