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PID | QueryLength | FocusSite | TITLE |
2692367 | 631 | 294 Q | 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 294-th site |
VARIANT: /note="Q -> K (in NPDA; strongly reduces enzyme activity; intermediate form with clinical features of both Niemann- Pick disease types A and B; dbSNP:rs120074128)" ECO:0000269|PubMed:15877209, ECO:0000269|PubMed:9266408" /id="VAR_060893" HELIX: CHAIN: /note="Sphingomyelin phosphodiesterase, processed form" /id="PRO_0000456684" CHAIN: /note="Sphingomyelin phosphodiesterase" /id="PRO_0000002323" |
VARIANT for 294-th site |
Q->K LP/P dbSNP:rs1200741 " Niemann-Pick disease A (NPDA) " [MIM:257200] |
Percentages of Amino Acids in Homologous Proteins
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Q:31% I:15% A:13% V:11% H:10% T:8% P:5% K:4% G:1% L:1% |
Template For Monomer | predicted SecStr | predicted ExpBur | Predicted Relative Acc(%) |
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H (alpha-helix) | b (buried) | 4.6 |
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