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PID | QueryLength | FocusSite | TITLE |
2692367 | 631 | 304 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 304-th site |
VARIANT: /note="L -> P (in NPDA; in 23% of NPDA Ashkenazi Jewish patients; abolishes enzyme activity; dbSNP:rs120074124)" ECO:0000269|PubMed:18815062" /id="VAR_005060" HELIX: CHAIN: /note="Sphingomyelin phosphodiesterase, processed form" /id="PRO_0000456684" CHAIN: /note="Sphingomyelin phosphodiesterase" /id="PRO_0000002323" |
VARIANT for 304-th site |
L->P LP/P dbSNP:rs1200741 " Niemann-Pick disease A (NPDA) " [MIM:257200] |
Percentages of Amino Acids in Homologous Proteins
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L:48% T:17% I:10% V:10% K:7% D:4% M:4% |
Template For Monomer | predicted SecStr | predicted ExpBur | Predicted Relative Acc(%) |
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H (alpha-helix) | b (buried) | 14.0 |
Predicted Bind Molecules |
compound:2 |
Templates for 3D complexes |
compound [NAG ] ![]() ![]() |
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