Summary for the 227-th Site(L) |
PID | QueryLength | FocusSite | TITLE |
2692367 | 631 | 227 L | 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 227-th site |
VARIANT: /note="L -> M (in NPDB)" /id="VAR_060880" VARIANT: /note="L -> P (in NPDB; expresses protein level comparable to wild-type SMPD1 expressing cells; retains no enzyme activity; dbSNP:rs764317969)" ECO:0000269|PubMed:16010684" /id="VAR_060881" STRAND: CHAIN: /note="Sphingomyelin phosphodiesterase" /id="PRO_0000002323" |
VARIANT for 227-th site |
L->M LP/P " Niemann-Pick disease B (NPDB) " [MIM:607616] L->P LP/P dbSNP:rs7643179 " Niemann-Pick disease B (NPDB) " [MIM:607616] |
Percentages of Amino Acids in Homologous Proteins [show alignment] |
L:22% V:17% C:10% Y:8% Q:7% K:6% M:6% A:3% G:3% R:2% N:2% D:2% E:2% I:2% P:2% S:2% T:2% H:1% F:1% |
Template For Monomer | predicted SecStr | predicted ExpBur | Predicted Relative Acc(%) |
5jg8 | S (bend) | b (buried) | 0.0 |
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