Summary for the 253-rd Site(D) |
PID | QueryLength | FocusSite | TITLE |
2692367 | 631 | 253 D | 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 253-th site |
VARIANT: /note="D -> E (in NPDA; strongly reduces enzyme activity; intermediate form with clinical features of both Niemann- Pick disease types A and B)" /id="VAR_060889" VARIANT: /note="D -> H (in NPDA; results in loss of activity; dbSNP:rs398123479)" /id="VAR_068436" MUTAGEN: /note="D->A: Abolished cleavage by CASP7." SITE: /note="Cleavage; by CASP7" CHAIN: /note="Sphingomyelin phosphodiesterase" /id="PRO_0000002323" |
VARIANT for 253-th site |
D->E LP/P " Niemann-Pick disease A (NPDA) " [MIM:257200] D->H LP/P dbSNP:rs3981234 " Niemann-Pick disease A (NPDA) " [MIM:257200] |
Percentages of Amino Acids in Homologous Proteins [show alignment] |
D:100% |
Template For Monomer | predicted SecStr | predicted ExpBur | Predicted Relative Acc(%) |
5jg8 | (coil) | b (buried) | 0.0 |
[Back to SiteTable] |
[Back to Search Page] |
[Back to Top Page] |