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| PID | QueryLength | FocusSite | TITLE |
| 2692367 | 631 | 498 R | 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 498-th site |
VARIANT: /note="R -> C (in NPDB; dbSNP:rs769904764)" /id="VAR_060921" VARIANT: /note="R -> H (in NPDA; dbSNP:rs120074117)" ECO:0000269|PubMed:27338287" /id="VAR_060922" VARIANT: /note="R -> L (in NPDA; in 32% of NPDA Ashkenazi Jewish patients; nearly abolishes enzyme activity; dbSNP:rs120074117)" ECO:0000269|PubMed:18815062, ECO:0000269|PubMed:2023926, ECO:0000269|PubMed:9660788" /id="VAR_005066" STRAND: CHAIN: /note="Sphingomyelin phosphodiesterase, processed form" /id="PRO_0000456684" CHAIN: /note="Sphingomyelin phosphodiesterase" /id="PRO_0000002323" |
| VARIANT for 498-th site |
R->L LP/P dbSNP:rs1200741 " Niemann-Pick disease A (NPDA) " [MIM:257200] R->C LP/P dbSNP:rs7699047 " Niemann-Pick disease B (NPDB) " [MIM:607616] R->H LP/P dbSNP:rs1200741 " Niemann-Pick disease A (NPDA) " [MIM:257200] |
Percentages of Amino Acids in Homologous Proteins
 [show alignment]
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R:79% V:11% K:10% |
| Template For Monomer | predicted SecStr | predicted ExpBur | Predicted Relative Acc(%) |
 5jg8 |
E (beta-strand) | b (buried) | 0.4 |
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Summary for the 498-th Site(R)