Summary for the 384-th Site(M) |
PID | QueryLength | FocusSite | TITLE |
2692367 | 631 | 384 M | 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 384-th site |
VARIANT: /note="M -> I (in NPDA and NPDB; dbSNP:rs120074121)" ECO:0000269|PubMed:1618760" /id="VAR_005061" HELIX: 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 384-th site |
M->I LP/P dbSNP:rs1200741 " Niemann-Pick disease A (NPDA) " [MIM:257200] M->I LP/P dbSNP:rs1200741 " Niemann-Pick disease B (NPDB) " [MIM:607616] |
Percentages of Amino Acids in Homologous Proteins [show alignment] |
T:83% M:12% N:5% |
Template For Monomer | predicted SecStr | predicted ExpBur | Predicted Relative Acc(%) |
5jg8 | G (3/10-helix) | b (buried) | 0.0 |
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