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| PID | QueryLength | FocusSite | TITLE |
| 2692367 | 631 | 378 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 378-th site |
VARIANT: /note="R -> H (in NPDB; reduces enzyme activity; some patients have a NPDA/NPDB intermediate phenotype; dbSNP:rs559088058)" ECO:0000269|PubMed:15877209, ECO:0000269|PubMed:19405096, ECO:0000269|PubMed:23252888" /id="VAR_060901" VARIANT: /note="R -> L (in NPDB)" /id="VAR_060902" STRAND: VAR_SEQ: /note="Missing (in isoform 2)" /id="VSP_000332" VAR_SEQ: /note="Missing (in isoform 3)" /id="VSP_000333" CHAIN: /note="Sphingomyelin phosphodiesterase, processed form" /id="PRO_0000456684" CHAIN: /note="Sphingomyelin phosphodiesterase" /id="PRO_0000002323" |
| VARIANT for 378-th site |
R->H LP/P dbSNP:rs5590880 " Niemann-Pick disease B (NPDB) " [MIM:607616] R->L LP/P " Niemann-Pick disease B (NPDB) " [MIM:607616] |
Percentages of Amino Acids in Homologous Proteins
 [show alignment]
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R:45% A:38% K:10% T:7% |
| Template For Monomer | predicted SecStr | predicted ExpBur | Predicted Relative Acc(%) |
 5jg8 |
E (beta-strand) | b (buried) | 13.0 |
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Summary for the 378-th Site(R)