Summary for the 610-th Site(R) |
PID | QueryLength | FocusSite | TITLE |
2692367 | 631 | 610 R | 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 610-th site |
VARIANT: /note="R -> C (in NPDB; uncertain significance; dbSNP:rs375915127)" /id="VAR_075335" VARIANT: /note="Missing (in NPDB; nearly abolishes enzyme activity; some patients have a NPDA/NPDB intermediate phenotype; loss of location to lysosome)" ECO:0000269|PubMed:18815062, ECO:0000269|PubMed:1885770, ECO:0000269|PubMed:19405096, ECO:0000269|PubMed:21098024, ECO:0000269|PubMed:22818240, ECO:0000269|PubMed:23252888" /id="VAR_005068" CHAIN: /note="Sphingomyelin phosphodiesterase, processed form" /id="PRO_0000456684" CHAIN: /note="Sphingomyelin phosphodiesterase" /id="PRO_0000002323" |
VARIANT for 610-th site |
R->C US dbSNP:rs3759151 " Niemann-Pick disease B (NPDB) " [MIM:607616] |
Percentages of Amino Acids in Homologous Proteins [show alignment] |
R:37% D:16% I:15% L:13% Q:11% A:1% N:1% E:1% G:1% K:1% P:1% S:1% T:1% V:1% |
Template For Monomer | predicted SecStr | predicted ExpBur | Predicted Relative Acc(%) |
5jg8 | G (3/10-helix) | e (exposed) | 54.5 |
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