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| PID | QueryLength | FocusSite | TITLE |
| 2692367 | 631 | 250 S | 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 250-th site |
VARIANT: /note="S -> R (in NPDA and NPDB; also found in patients with an intermediate form; dbSNP:rs750779804)" ECO:0000269|PubMed:12556236, ECO:0000269|PubMed:15877209, ECO:0000269|PubMed:22818240" /id="VAR_015287" MUTAGEN: /note="S->A: No effect on sphingomyelin phosphodiesterase activity. No effect on endolysosome location. No effect on phosphorylation by PRKCD." STRAND: CHAIN: /note="Sphingomyelin phosphodiesterase" /id="PRO_0000002323" |
| VARIANT for 250-th site |
S->R LP/P dbSNP:rs7507798 " Niemann-Pick disease A (NPDA) " [MIM:257200] S->R LP/P dbSNP:rs7507798 " Niemann-Pick disease B (NPDB) " [MIM:607616] |
Percentages of Amino Acids in Homologous Proteins
 [show alignment]
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S:31% G:24% Y:11% V:8% M:5% L:3% A:2% R:2% D:2% E:2% I:2% K:2% P:2% T:2% N:1% C:1% Q:1% H:1% F:1% |
| Template For Monomer | predicted SecStr | predicted ExpBur | Predicted Relative Acc(%) |
 5jg8 |
S (bend) | e (exposed) | 29.7 |
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Summary for the 250-th Site(S)