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| PID | QueryLength | FocusSite | TITLE |
| 2692367 | 631 | 247 G | 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 247-th site |
VARIANT: /note="G -> D (in NPDA; severe decrease in activity; the mutant is highly unstable; dbSNP:rs1590739350)" /id="VAR_075325" VARIANT: /note="G -> S (in NPDA and NPDB; dbSNP:rs587779408)" ECO:0000269|PubMed:15221801, ECO:0000269|PubMed:19405096, ECO:0000269|PubMed:23252888" /id="VAR_060887" CHAIN: /note="Sphingomyelin phosphodiesterase" /id="PRO_0000002323" |
| VARIANT for 247-th site |
G->S LP/P dbSNP:rs5877794 " Niemann-Pick disease A (NPDA) " [MIM:257200] G->S LP/P dbSNP:rs5877794 " Niemann-Pick disease B (NPDB) " [MIM:607616] G->D LP/P dbSNP:rs1590739 " Niemann-Pick disease A (NPDA) " [MIM:257200] |
Percentages of Amino Acids in Homologous Proteins
 [show alignment]
|
G:95% A:5% |
| Template For Monomer | predicted SecStr | predicted ExpBur | Predicted Relative Acc(%) |
 5jg8 |
(coil) | b (buried) | 0.0 |
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Summary for the 247-th Site(G)