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PID | QueryLength | FocusSite | TITLE |
2692367 | 631 | 324 T | 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 324-th site |
VARIANT: /note="T -> I (in dbSNP:rs1050233)" ECO:0000269|PubMed:2555181, ECO:0000269|PubMed:26084044" /id="VAR_054643" VARIANT: /note="T -> P (in NPDA; uncertain significance)" /id="VAR_077316" STRAND: CHAIN: /note="Sphingomyelin phosphodiesterase, processed form" /id="PRO_0000456684" CHAIN: /note="Sphingomyelin phosphodiesterase" /id="PRO_0000002323" |
VARIANT for 324-th site |
T->I LB/B dbSNP:rs1050233 " -" T->P US " Niemann-Pick disease A (NPDA) " [MIM:257200] |
Percentages of Amino Acids in Homologous Proteins
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F:24% Y:19% V:15% W:12% L:10% T:8% H:7% A:1% G:1% |
Template For Monomer | predicted SecStr | predicted ExpBur | Predicted Relative Acc(%) |
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S (bend) | b (buried) | 7.8 |
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