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| PID | QueryLength | FocusSite | TITLE |
| 2692367 | 631 | 359 A | 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 359-th site |
VARIANT: /note="A -> D (in NPDB; sphingomyelinase activity is decreased to 4% of wild-type activity; no effect on protein abundance; no effect on protein localization to lysosome; no effect on protein localization to extracellular space; dbSNP:rs797044800)" ECO:0000269|PubMed:25920558, ECO:0000269|PubMed:27659707" /id="VAR_060899" HELIX: CHAIN: /note="Sphingomyelin phosphodiesterase, processed form" /id="PRO_0000456684" CHAIN: /note="Sphingomyelin phosphodiesterase" /id="PRO_0000002323" |
| VARIANT for 359-th site |
A->D LP/P dbSNP:rs7970448 " Niemann-Pick disease B (NPDB) " [MIM:607616] |
Percentages of Amino Acids in Homologous Proteins
 [show alignment]
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Q:45% A:38% S:12% E:5% |
| Template For Monomer | predicted SecStr | predicted ExpBur | Predicted Relative Acc(%) |
 5jg8 |
H (alpha-helix) | b (buried) | 0.0 |
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Summary for the 359-th Site(A)