Summary for the 132-nd Site(V) |
PID | QueryLength | FocusSite | TITLE |
2692367 | 631 | 132 V | 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 132-th site |
VARIANT: /note="V -> A (in NPDB; expresses protein level comparable to wild-type SMPD1 expressing cells; retains 13% residual enzyme activity)" /id="VAR_060873" HELIX: DOMAIN: /note="Saposin B-type" CHAIN: /note="Sphingomyelin phosphodiesterase" /id="PRO_0000002323" |
VARIANT for 132-th site |
V->A LP/P " Niemann-Pick disease B (NPDB) " [MIM:607616] |
Percentages of Amino Acids in Homologous Proteins [show alignment] |
V:100% |
Template For Monomer | predicted SecStr | predicted ExpBur | Predicted Relative Acc(%) |
5jg8 | H (alpha-helix) | b (buried) | 10.0 |
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