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PID | QueryLength | FocusSite | TITLE |
2692367 | 631 | 343 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 343-th site |
VARIANT: /note="L -> P (in NPDA; strongly reduces enzyme activity; intermediate form with clinical features of both Niemann- Pick disease types A and B)" ECO:0000269|PubMed:9266408" /id="VAR_060898" VARIANT: /note="L -> R (in NPDA)" /id="VAR_077317" HELIX: CHAIN: /note="Sphingomyelin phosphodiesterase, processed form" /id="PRO_0000456684" CHAIN: /note="Sphingomyelin phosphodiesterase" /id="PRO_0000002323" |
VARIANT for 343-th site |
L->P LP/P " Niemann-Pick disease A (NPDA) " [MIM:257200] L->R LP/P " Niemann-Pick disease A (NPDA) " [MIM:257200] |
Percentages of Amino Acids in Homologous Proteins
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L:52% I:16% V:12% M:10% Y:8% |
Template For Monomer | predicted SecStr | predicted ExpBur | Predicted Relative Acc(%) |
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H (alpha-helix) | b (buried) | 1.1 |
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