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| PID | QueryLength | FocusSite | TITLE |
| 2692367 | 631 | 105 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 105-th site |
VARIANT: /note="L -> P (in NPDA and NPDB; expresses protein level comparable to wild-type SMPD1 expressing cells; retains very low enzyme activity; dbSNP:rs751269562)" ECO:0000269|PubMed:15241805, ECO:0000269|PubMed:16010684, ECO:0000269|PubMed:22818240, ECO:0000269|PubMed:27338287" /id="VAR_060872" HELIX: DOMAIN: /note="Saposin B-type" CHAIN: /note="Sphingomyelin phosphodiesterase" /id="PRO_0000002323" |
| VARIANT for 105-th site |
L->P LP/P dbSNP:rs7512695 " Niemann-Pick disease A (NPDA) " [MIM:257200] L->P LP/P dbSNP:rs7512695 " Niemann-Pick disease B (NPDB) " [MIM:607616] |
Percentages of Amino Acids in Homologous Proteins
 [show alignment]
|
I:45% L:40% W:15% |
| Template For Monomer | predicted SecStr | predicted ExpBur | Predicted Relative Acc(%) |
 5jg8 |
H (alpha-helix) | b (buried) | 16.3 |
| Predicted Bind Molecules |
| homo:2 |
| Templates for 3D complexes |
|
homo [94665:ASM_HUMAN
] 5i81_A_1_A_2 5i81_A_2_A_1
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Summary for the 105-th Site(L)