Summary for the 325-th Site(P) |
PID | QueryLength | FocusSite | TITLE |
2692367 | 631 | 325 P | 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 325-th site |
VARIANT: /note="P -> A (in NPDB; results in 1-4% of wild type activity; dbSNP:rs761308217)" ECO:0000269|PubMed:23430512, ECO:0000269|PubMed:26084044" /id="VAR_060896" STRAND: CHAIN: /note="Sphingomyelin phosphodiesterase, processed form" /id="PRO_0000456684" CHAIN: /note="Sphingomyelin phosphodiesterase" /id="PRO_0000002323" |
VARIANT for 325-th site |
P->A LP/P dbSNP:rs7613082 " Niemann-Pick disease B (NPDB) " [MIM:607616] |
Percentages of Amino Acids in Homologous Proteins [show alignment] |
P:94% A:1% G:1% L:1% |
Template For Monomer | predicted SecStr | predicted ExpBur | Predicted Relative Acc(%) |
5jg8 | S (bend) | b (buried) | 1.6 |
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