42 sites |
105,186,211,216,228,230,243,247,248,250,253,255,280,294,304,315,319,321,324,343,363,369,384,387,391,393,423,426,448,452,465,469,477,484,494,498,519,535,539,572,579,602 |
n |
a |
s |
e |
acc |
pdb |
contact_mols |
observed aa |
feature table |
variant |
105 | L | H | b | 16.3 | 5jg8_B |
compound 6E0 homo |
ILW |
DOMAIN /note="Saposin B-type" DOMAIN /note="Saposin B-type" |
L->P:(0.0 %):LP/P Niemann-Pick disease A (NPDA) dbSNP:rs7512695 [MIM:257200];L->P:(0.0 %):LP/P Niemann-Pick disease B (NPDB) dbSNP:rs7512695 [MIM:607616] |
186 | P | | e | 34.1 | 5jg8_B |
|
PGQR |
DISORDER predicted by DISOPRED |
P->L:(0.0 %):LP/P Niemann-Pick disease A (NPDA) dbSNP:rs1057517 [MIM:257200] |
211 | W | B | b | 6.8 | 5jg8_B |
metal CL |
PLVWFIY |
|
W->R:(0.0 %):LP/P Niemann-Pick disease A (NPDA) [MIM:257200] |
216 | L | | e | 24.7 | 5jg8_B |
metal CL |
KVETLIHADGPS |
|
L->R:(0.0 %):LP/P Niemann-Pick disease A (NPDA) [MIM:257200] |
228 | C | | b | 0.0 | 5jg8_B |
|
CALTVDEFGIKNPQRSY |
DISULFID ECO:0000269|PubMed:12631268, ECO:0000269|PubMed:27349982, ECO:0007744|PDB:5JG8" DISULFID ECO:0000269|PubMed:12631268, ECO:0000269|PubMed:27349982, ECO:0007744|PDB:5JG8" |
C->R:(1.0 %):LP/P Niemann-Pick disease A (NPDA) dbSNP:rs1564923 [MIM:257200] |
230 | R | B | b | 2.4 | 5jg8_B |
precipitant |
RHSDALEFGIKNPQTVY |
|
R->C:(0.0 %):LP/P Niemann-Pick disease A (NPDA) dbSNP:rs9896392 [MIM:257200];R->C:(0.0 %):LP/P Niemann-Pick disease B (NPDB) dbSNP:rs9896392 [MIM:607616];R->H:(21.0 %):LP/P Niemann-Pick disease A (NPDA) dbSNP:rs1413877 [MIM:257200] |
243 | A | | b | 8.0 | 5jg8_B |
|
APNGVD |
|
A->V:(5.0 %):LP/P Niemann-Pick disease A (NPDA) dbSNP:rs1291958 [MIM:257200] |
247 | G | | b | 0.0 | 5jg8_B |
|
GA |
|
G->S:(0.0 %):LP/P Niemann-Pick disease A (NPDA) dbSNP:rs5877794 [MIM:257200];G->S:(0.0 %):LP/P Niemann-Pick disease B (NPDB) dbSNP:rs5877794 [MIM:607616];G->D:(0.0 %):LP/P Niemann-Pick disease A (NPDA) dbSNP:rs1590739 [MIM:257200] |
248 | E | | b | 18.6 | 5jg8_B |
|
DEHNSRPMKT |
|
E->Q:(0.0 %):LP/P Niemann-Pick disease B (NPDB) dbSNP:rs2007634 [MIM:607616];E->K:(4.0 %):LP/P Niemann-Pick disease A (NPDA) dbSNP:rs2007634 [MIM:257200] |
250 | S | S | e | 29.7 | 5jg8_B |
|
SGYVMLADEIKPRTCFHNQ |
MUTAGEN /note="S->A: No effect on sphingomyelin phosphodiesterase activity. No effect on endolysosome location. No effect on phosphorylation by PRKCD." MUTAGEN /note="S->A: No effect on sphingomyelin phosphodiesterase activity. No effect on endolysosome location. No effect on phosphorylation by PRKCD." |
S->R:(2.0 %):LP/P Niemann-Pick disease A (NPDA) dbSNP:rs7507798 [MIM:257200];S->R:(2.0 %):LP/P Niemann-Pick disease B (NPDB) dbSNP:rs7507798 [MIM:607616] |
253 | D | | b | 0.0 | 5jg8_B |
|
D |
MUTAGEN /note="D->A: Abolished cleavage by CASP7." SITE /note="Cleavage; by CASP7" MUTAGEN /note="D->A: Abolished cleavage by CASP7." SITE /note="Cleavage; by CASP7" |
D->E:(0.0 %):LP/P Niemann-Pick disease A (NPDA) [MIM:257200];D->H:(0.0 %):LP/P Niemann-Pick disease A (NPDA) dbSNP:rs3981234 [MIM:257200] |
255 | P | | b | 4.7 | 5jg8_B |
|
PNIS |
|
P->S:(5.0 %):LP/P Niemann-Pick disease A (NPDA) [MIM:257200] |
280 | D | | b | 0.6 | 5jg8_B |
compound PC NT8 metal ZN precipitant |
D |
BINDING /ligand="Zn(2+)" /ligand_id="ChEBI:CHEBI:29105" /ligand_label="1" ECO:0007744|PDB:5I81, ECO:0007744|PDB:5I85, ECO:0007744|PDB:5I8R, ECO:0007744|PDB:5JG8" BINDING /ligand="Zn(2+)" /ligand_id="ChEBI:CHEBI:29105" /ligand_label="2" ECO:0007744|PDB:5I81, ECO:0007744|PDB:5I85, ECO:0007744|PDB:5I8R, ECO:0007744|PDB:5JG8" BINDING /ligand="Zn(2+)" /ligand_id="ChEBI:CHEBI:29105" /ligand_label="1" ECO:0007744|PDB:5I81, ECO:0007744|PDB:5I85, ECO:0007744|PDB:5I8R, ECO:0007744|PDB:5JG8" BINDING /ligand="Zn(2+)" /ligand_id="ChEBI:CHEBI:29105" /ligand_label="2" ECO:0007744|PDB:5I81, ECO:0007744|PDB:5I85, ECO:0007744|PDB:5I8R, ECO:0007744|PDB:5JG8" |
D->A:(0.0 %):LP/P Niemann-Pick disease A (NPDA) [MIM:257200] |
294 | Q | H | b | 4.6 | 5jg8_B |
|
QIAVHTPKGL |
|
Q->K:(4.0 %):LP/P Niemann-Pick disease A (NPDA) dbSNP:rs1200741 [MIM:257200] |
304 | L | H | b | 14.0 | 5jg8_B |
|
LTIVKDM |
|
L->P:(0.0 %):LP/P Niemann-Pick disease A (NPDA) dbSNP:rs1200741 [MIM:257200] |
315 | Y | E | b | 6.5 | 5jg8_B |
|
YVFIL |
|
Y->H:(0.0 %):LP/P Niemann-Pick disease A (NPDA) [MIM:257200] |
319 | G | | b | 0.0 | 5jg8_B |
|
G |
|
G->R:(0.0 %):LP/P Niemann-Pick disease A (NPDA) dbSNP:rs7579347 [MIM:257200] |
321 | H | S | b | 9.9 | 5jg8_B |
compound PC NT8 metal ZN precipitant |
HN |
|
H->Y:(0.0 %):LP/P Niemann-Pick disease A (NPDA) [MIM:257200] |
324 | T | S | b | 7.8 | 5jg8_B |
otherpoly |
FYVWLTHAG |
|
T->I:(0.0 %):LB/B - dbSNP:rs1050233;T->P:(0.0 %):US Niemann-Pick disease A (NPDA) [MIM:257200] |
343 | L | H | b | 1.1 | 5jg8_B |
|
LIVMY |
|
L->P:(0.0 %):LP/P Niemann-Pick disease A (NPDA) [MIM:257200];L->R:(0.0 %):LP/P Niemann-Pick disease A (NPDA) [MIM:257200] |
363 | L | H | b | 0.0 | 5jg8_B |
|
FLV |
|
L->R:(0.0 %):US Niemann-Pick disease A (NPDA) [MIM:257200] |
369 | Y | E | b | 0.4 | 5jg8_B |
|
YF |
|
Y->C:(0.0 %):LP/P Niemann-Pick disease A (NPDA) dbSNP:rs3722878 [MIM:257200] |
384 | M | G | b | 0.0 | 5jg8_B |
|
TMN |
|
M->I:(0.0 %):LP/P Niemann-Pick disease A (NPDA) dbSNP:rs1200741 [MIM:257200];M->I:(0.0 %):LP/P Niemann-Pick disease B (NPDB) dbSNP:rs1200741 [MIM:607616] |
387 | C | G | b | 0.0 | 5jg8_B |
|
YCLFGNMW |
DISULFID ECO:0000269|PubMed:12631268, ECO:0000269|PubMed:27349982, ECO:0007744|PDB:5JG8" DISULFID ECO:0000269|PubMed:12631268, ECO:0000269|PubMed:27349982, ECO:0007744|PDB:5JG8" |
C->R:(0.0 %):LP/P Niemann-Pick disease A (NPDA) [MIM:257200] |
391 | N | | b | 0.6 | 5jg8_B |
|
N |
|
N->T:(0.0 %):LP/P Niemann-Pick disease A (NPDA) [MIM:257200];N->H:(0.0 %):LP/P Niemann-Pick disease A (NPDA) [MIM:257200] |
393 | W | G | b | 0.0 | 5jg8_B |
|
YWANGLEFQMPSKTVCDHIR |
|
W->G:(7.0 %):LP/P Niemann-Pick disease B (NPDB) dbSNP:rs1200741 [MIM:607616];W->R:(1.0 %):LP/P Niemann-Pick disease A (NPDA) [MIM:257200] |
423 | H | E | b | 0.5 | 5jg8_B |
|
WYHIL |
|
H->Y:(35.0 %):LP/P Niemann-Pick disease B (NPDB) dbSNP:rs1200741 [MIM:607616];H->R:(0.0 %):LP/P Niemann-Pick disease A (NPDA) dbSNP:rs7674920 [MIM:257200] |
426 | G | E | b | 0.0 | 5jg8_B |
|
GAS |
|
G->S:(5.0 %):LP/P Niemann-Pick disease A (NPDA) dbSNP:rs1554935 [MIM:257200] |
448 | Y | T | b | 0.9 | 5jg8_B |
|
YFH |
|
Y->C:(0.0 %):LP/P Niemann-Pick disease A (NPDA) dbSNP:rs7471433 [MIM:257200] |
452 | L | E | b | 6.7 | 5jg8_B |
|
IVL |
|
L->P:(0.0 %):LP/P Niemann-Pick disease A (NPDA) [MIM:257200] |
465 | F | E | b | 2.9 | 5jg8_B |
|
FIL |
|
F->S:(0.0 %):LP/P Niemann-Pick disease A (NPDA) dbSNP:rs1319643 [MIM:257200] |
469 | Y | E | b | 3.5 | 5jg8_B |
|
YSFHLI |
|
Y->S:(21.0 %):LP/P Niemann-Pick disease A (NPDA) dbSNP:rs2676070 [MIM:257200] |
477 | P | E | b | 13.2 | 5jg8_B |
|
PDNAEGKLSTV |
|
P->L:(1.0 %):LP/P Niemann-Pick disease A (NPDA) dbSNP:rs7535088 [MIM:257200];P->L:(1.0 %):LP/P Niemann-Pick disease B (NPDB) dbSNP:rs7535088 [MIM:607616] |
484 | A | E | b | 0.0 | 5jg8_B |
|
ASTGVEKL |
|
A->E:(1.0 %):LP/P Niemann-Pick disease A (NPDA) dbSNP:rs2676070 [MIM:257200] |
494 | N | | b | 2.4 | 5jg8_B |
|
NKEF |
|
N->I:(0.0 %):LP/P Niemann-Pick disease A (NPDA) [MIM:257200] |
498 | R | E | b | 0.4 | 5jg8_B |
|
RVK |
|
R->L:(0.0 %):LP/P Niemann-Pick disease A (NPDA) dbSNP:rs1200741 [MIM:257200];R->C:(0.0 %):LP/P Niemann-Pick disease B (NPDB) dbSNP:rs7699047 [MIM:607616];R->H:(0.0 %):LP/P Niemann-Pick disease A (NPDA) dbSNP:rs1200741 [MIM:257200] |
519 | Y | E | b | 6.5 | 5jg8_B |
|
YFW |
|
Y->C:(0.0 %):LP/P Niemann-Pick disease A (NPDA) dbSNP:rs3718372 [MIM:257200] |
535 | W | E | b | 7.2 | 5jg8_B |
|
WYF |
|
W->R:(0.0 %):LP/P Niemann-Pick disease A (NPDA) dbSNP:rs1554935 [MIM:257200];W->R:(0.0 %):LP/P Niemann-Pick disease B (NPDB) dbSNP:rs1554935 [MIM:607616] |
539 | Y | | b | 4.8 | 5jg8_B |
|
Y |
|
Y->H:(0.0 %):LP/P Niemann-Pick disease A (NPDA) [MIM:257200] |
572 | F | H | b | 1.9 | 5jg8_B |
|
YF |
|
F->L:(0.0 %):LP/P Niemann-Pick disease A (NPDA) [MIM:257200] |
579 | G | T | e | 20.2 | 5jg8_B |
compound NAG otherpoly precipitant |
SVNGRA |
|
G->S:(29.0 %):LP/P Niemann-Pick disease A (NPDA) dbSNP:rs1200741 [MIM:257200] |
602 | R | S | b | 7.9 | 5jg8_B |
precipitant |
RDAHM |
|
R->H:(13.0 %):LP/P Niemann-Pick disease A (NPDA) dbSNP:rs3701290 [MIM:257200];R->H:(13.0 %):LP/P Niemann-Pick disease B (NPDB) dbSNP:rs3701290 [MIM:607616];R->P:(0.0 %):LP/P Niemann-Pick disease B (NPDB) [MIM:607616] |
68 sites |
51,91,94,105,132,139,159,163,168,178,198,202,227,230,234,244,246,247,248,250,258,282,283,291,314,320,325,332,359,373,378,381,384,385,393,415,423,427,433,434,437,438,453,454,458,476,477,482,488,490,492,496,498,516,517,520,522,525,535,549,551,565,577,578,598,599,602,610 |
n |
a |
s |
e |
acc |
pdb |
contact_mols |
observed aa |
feature table |
variant |
51 | D | - | - | - | - |
|
DEN |
|
D->V:(0.0 %):US Niemann-Pick disease B (NPDB) dbSNP:rs7485899 [MIM:607616] |
91 | C | H | e | 20.7 | 5jg8_B |
|
C |
DISULFID ECO:0000269|PubMed:27349982, ECO:0007744|PDB:5JG8" DOMAIN /note="Saposin B-type" DISULFID ECO:0000269|PubMed:27349982, ECO:0007744|PDB:5JG8" DOMAIN /note="Saposin B-type" |
C->H:(0.0 %):LP/P Niemann-Pick disease B (NPDB) [MIM:607616] |
94 | C | H | b | 10.7 | 5jg8_B |
homo |
C |
DISULFID ECO:0000269|PubMed:27349982, ECO:0007744|PDB:5JG8" DOMAIN /note="Saposin B-type" DISULFID ECO:0000269|PubMed:27349982, ECO:0007744|PDB:5JG8" DOMAIN /note="Saposin B-type" |
C->W:(0.0 %):LP/P Niemann-Pick disease B (NPDB) [MIM:607616] |
105 | L | H | b | 16.3 | 5jg8_B |
compound 6E0 homo |
ILW |
DOMAIN /note="Saposin B-type" DOMAIN /note="Saposin B-type" |
L->P:(0.0 %):LP/P Niemann-Pick disease A (NPDA) dbSNP:rs7512695 [MIM:257200];L->P:(0.0 %):LP/P Niemann-Pick disease B (NPDB) dbSNP:rs7512695 [MIM:607616] |
132 | V | H | b | 10.0 | 5jg8_B |
|
V |
DOMAIN /note="Saposin B-type" DOMAIN /note="Saposin B-type" |
V->A:(0.0 %):LP/P Niemann-Pick disease B (NPDB) [MIM:607616] |
139 | L | H | e | 24.2 | 5jg8_B |
otherpoly |
LNDQA |
DOMAIN /note="Saposin B-type" DOMAIN /note="Saposin B-type" |
L->P:(0.0 %):LP/P Niemann-Pick disease B (NPDB) dbSNP:rs7970447 [MIM:607616] |
159 | C | H | b | 0.0 | 5jg8_B |
|
C |
DISULFID ECO:0000269|PubMed:27349982, ECO:0007744|PDB:5JG8" DOMAIN /note="Saposin B-type" DISULFID ECO:0000269|PubMed:27349982, ECO:0007744|PDB:5JG8" DOMAIN /note="Saposin B-type" |
C->R:(0.0 %):LP/P Niemann-Pick disease B (NPDB) dbSNP:rs7275041 [MIM:607616] |
163 | L | T | e | 46.1 | 5jg8_B |
precipitant |
LIMADEFGKNPQRSTV |
DOMAIN /note="Saposin B-type" DOMAIN /note="Saposin B-type" |
L->P:(1.0 %):LP/P Niemann-Pick disease B (NPDB) dbSNP:rs7801344 [MIM:607616] |
168 | G | | b | 17.9 | 5jg8_B |
|
GDP |
DOMAIN /note="Saposin B-type" DOMAIN /note="Saposin B-type" |
G->R:(0.0 %):LP/P Niemann-Pick disease B (NPDB) dbSNP:rs1847910 [MIM:607616] |
178 | I | | b | 5.3 | 5jg8_B |
otherpoly |
ILFMV |
|
I->N:(0.0 %):LP/P Niemann-Pick disease B (NPDB) dbSNP:rs7497807 [MIM:607616] |
198 | A | | e | 25.0 | 5jg8_B |
|
AKSVDMNP |
|
A->P:(6.0 %):LP/P Niemann-Pick disease B (NPDB) dbSNP:rs7970447 [MIM:607616] |
202 | R | E | b | 19.0 | 5jg8_B |
precipitant |
RQKY |
|
R->C:(0.0 %):LP/P Niemann-Pick disease B (NPDB) dbSNP:rs7495952 [MIM:607616] |
227 | L | S | b | 0.0 | 5jg8_B |
|
LVCYQKMAGDEINPRSTFH |
|
L->M:(6.0 %):LP/P Niemann-Pick disease B (NPDB) [MIM:607616];L->P:(2.0 %):LP/P Niemann-Pick disease B (NPDB) dbSNP:rs7643179 [MIM:607616] |
230 | R | B | b | 2.4 | 5jg8_B |
precipitant |
RHSDALEFGIKNPQTVY |
|
R->C:(0.0 %):LP/P Niemann-Pick disease A (NPDA) dbSNP:rs9896392 [MIM:257200];R->C:(0.0 %):LP/P Niemann-Pick disease B (NPDB) dbSNP:rs9896392 [MIM:607616];R->H:(21.0 %):LP/P Niemann-Pick disease A (NPDA) dbSNP:rs1413877 [MIM:257200] |
234 | G | | e | 54.8 | 5jg8_B |
precipitant |
GNDAMSY |
|
G->D:(7.0 %):LP/P Niemann-Pick disease B (NPDB) [MIM:607616] |
244 | G | | b | 13.1 | 5jg8_B |
|
GAVPSDEIKLNRT |
|
G->R:(1.0 %):LP/P Niemann-Pick disease B (NPDB) dbSNP:rs1200741 [MIM:607616] |
246 | W | T | b | 16.3 | 5jg8_B |
|
WFYILG |
|
W->C:(0.0 %):LP/P Niemann-Pick disease B (NPDB) [MIM:607616] |
247 | G | | b | 0.0 | 5jg8_B |
|
GA |
|
G->S:(0.0 %):LP/P Niemann-Pick disease A (NPDA) dbSNP:rs5877794 [MIM:257200];G->S:(0.0 %):LP/P Niemann-Pick disease B (NPDB) dbSNP:rs5877794 [MIM:607616];G->D:(0.0 %):LP/P Niemann-Pick disease A (NPDA) dbSNP:rs1590739 [MIM:257200] |
248 | E | | b | 18.6 | 5jg8_B |
|
DEHNSRPMKT |
|
E->Q:(0.0 %):LP/P Niemann-Pick disease B (NPDB) dbSNP:rs2007634 [MIM:607616];E->K:(4.0 %):LP/P Niemann-Pick disease A (NPDA) dbSNP:rs2007634 [MIM:257200] |
250 | S | S | e | 29.7 | 5jg8_B |
|
SGYVMLADEIKPRTCFHNQ |
MUTAGEN /note="S->A: No effect on sphingomyelin phosphodiesterase activity. No effect on endolysosome location. No effect on phosphorylation by PRKCD." MUTAGEN /note="S->A: No effect on sphingomyelin phosphodiesterase activity. No effect on endolysosome location. No effect on phosphorylation by PRKCD." |
S->R:(2.0 %):LP/P Niemann-Pick disease A (NPDA) dbSNP:rs7507798 [MIM:257200];S->R:(2.0 %):LP/P Niemann-Pick disease B (NPDB) dbSNP:rs7507798 [MIM:607616] |
258 | T | H | b | 0.0 | 5jg8_B |
|
LTM |
|
T->I:(0.0 %):LP/P Niemann-Pick disease B (NPDB) [MIM:607616] |
282 | P | B | b | 3.1 | 5jg8_B |
|
PAVITES |
|
P->F:(0.0 %):LP/P Niemann-Pick disease B (NPDB) [MIM:607616] |
283 | A | | b | 3.6 | 5jg8_B |
|
RPAGNS |
|
A->T:(0.0 %):LP/P Niemann-Pick disease B (NPDB) dbSNP:rs7521485 [MIM:607616] |
291 | R | H | e | 27.3 | 5jg8_B |
otherpoly |
PEQTRGSINAY |
|
R->H:(0.0 %):US Niemann-Pick disease B (NPDB) dbSNP:rs1803161 [MIM:607616] |
314 | V | E | b | 0.0 | 5jg8_B |
|
VIFL |
|
V->M:(0.0 %):LP/P Niemann-Pick disease B (NPDB) dbSNP:rs1228068 [MIM:607616] |
320 | N | S | b | 1.2 | 5jg8_B |
compound PC NT8 metal ZN precipitant |
N |
BINDING /ligand="Zn(2+)" /ligand_id="ChEBI:CHEBI:29105" /ligand_label="2" ECO:0007744|PDB:5I81, ECO:0007744|PDB:5I85, ECO:0007744|PDB:5I8R, ECO:0007744|PDB:5JG8" BINDING /ligand="Zn(2+)" /ligand_id="ChEBI:CHEBI:29105" /ligand_label="2" ECO:0007744|PDB:5I81, ECO:0007744|PDB:5I85, ECO:0007744|PDB:5I8R, ECO:0007744|PDB:5JG8" |
N->D:(0.0 %):US Niemann-Pick disease B (NPDB) dbSNP:rs7799276 [MIM:607616] |
325 | P | S | b | 1.6 | 5jg8_B |
|
PAGL |
|
P->A:(1.0 %):LP/P Niemann-Pick disease B (NPDB) dbSNP:rs7613082 [MIM:607616] |
332 | P | T | e | 38.8 | 5jg8_B |
|
PHYSLAEGVDFIKNQRTCMW |
|
P->R:(2.0 %):LP/P Niemann-Pick disease B (NPDB) dbSNP:rs2020819 [MIM:607616] |
359 | A | H | b | 0.0 | 5jg8_B |
|
QASE |
|
A->D:(0.0 %):LP/P Niemann-Pick disease B (NPDB) dbSNP:rs7970448 [MIM:607616] |
373 | P | S | b | 16.3 | 5jg8_B |
compound NAG otherpoly |
VPISANT |
|
P->S:(6.0 %):LP/P Niemann-Pick disease B (NPDB) dbSNP:rs1342372 [MIM:607616] |
378 | R | E | b | 13.0 | 5jg8_B |
|
RAKT |
|
R->H:(0.0 %):LP/P Niemann-Pick disease B (NPDB) dbSNP:rs5590880 [MIM:607616];R->L:(0.0 %):LP/P Niemann-Pick disease B (NPDB) [MIM:607616] |
381 | S | E | b | 0.8 | 5jg8_B |
|
SVT |
|
S->P:(0.0 %):LP/P Niemann-Pick disease B (NPDB) [MIM:607616] |
384 | M | G | b | 0.0 | 5jg8_B |
|
TMN |
|
M->I:(0.0 %):LP/P Niemann-Pick disease A (NPDA) dbSNP:rs1200741 [MIM:257200];M->I:(0.0 %):LP/P Niemann-Pick disease B (NPDB) dbSNP:rs1200741 [MIM:607616] |
385 | N | G | b | 0.0 | 5jg8_B |
|
LNIVG |
|
N->S:(0.0 %):LP/P Niemann-Pick disease B (NPDB) dbSNP:rs1200741 [MIM:607616] |
393 | W | G | b | 0.0 | 5jg8_B |
|
YWANGLEFQMPSKTVCDHIR |
|
W->G:(7.0 %):LP/P Niemann-Pick disease B (NPDB) dbSNP:rs1200741 [MIM:607616];W->R:(1.0 %):LP/P Niemann-Pick disease A (NPDA) [MIM:257200] |
415 | A | H | b | 0.9 | 5jg8_B |
|
ASMLYFI |
|
A->V:(0.0 %):LP/P Niemann-Pick disease B (NPDB) dbSNP:rs1451199 [MIM:607616] |
423 | H | E | b | 0.5 | 5jg8_B |
|
WYHIL |
|
H->Y:(35.0 %):LP/P Niemann-Pick disease B (NPDB) dbSNP:rs1200741 [MIM:607616];H->R:(0.0 %):LP/P Niemann-Pick disease A (NPDA) dbSNP:rs7674920 [MIM:257200] |
427 | H | S | b | 0.0 | 5jg8_B |
compound PC NT8 metal ZN precipitant |
H |
BINDING /ligand="Zn(2+)" /ligand_id="ChEBI:CHEBI:29105" /ligand_label="2" ECO:0007744|PDB:5I81, ECO:0007744|PDB:5I85, ECO:0007744|PDB:5I8R, ECO:0007744|PDB:5JG8" BINDING /ligand="Zn(2+)" /ligand_id="ChEBI:CHEBI:29105" /ligand_label="2" ECO:0007744|PDB:5I81, ECO:0007744|PDB:5I85, ECO:0007744|PDB:5I8R, ECO:0007744|PDB:5JG8" |
H->R:(0.0 %):LP/P Niemann-Pick disease B (NPDB) dbSNP:rs7947276 [MIM:607616] |
433 | C | S | b | 0.0 | 5jg8_B |
|
CFLNIMASTWY |
DISULFID ECO:0000269|PubMed:12631268, ECO:0000269|PubMed:27349982, ECO:0007744|PDB:5JG8" DISULFID ECO:0000269|PubMed:12631268, ECO:0000269|PubMed:27349982, ECO:0007744|PDB:5JG8" |
C->R:(0.0 %):LP/P Niemann-Pick disease B (NPDB) dbSNP:rs7795285 [MIM:607616] |
434 | L | | b | 12.9 | 5jg8_B |
|
LYERQKTADIP |
|
L->P:(3.0 %):LP/P Niemann-Pick disease B (NPDB) [MIM:607616] |
437 | W | H | b | 1.2 | 5jg8_B |
|
WYCFDALHQS |
|
W->C:(13.0 %):LP/P Niemann-Pick disease B (NPDB) [MIM:607616] |
438 | S | H | b | 0.0 | 5jg8_B |
|
SNAYDCVK |
|
S->R:(0.0 %):LP/P Niemann-Pick disease B (NPDB) dbSNP:rs2676070 [MIM:607616] |
453 | A | E | b | 12.5 | 5jg8_B |
|
AIVTEL |
|
A->D:(0.0 %):LP/P Niemann-Pick disease B (NPDB) [MIM:607616] |
454 | A | E | b | 3.6 | 5jg8_B |
|
GAFQS |
|
A->V:(0.0 %):LP/P Niemann-Pick disease B (NPDB) dbSNP:rs1402734 [MIM:607616] |
458 | G | E | b | 0.0 | 5jg8_B |
|
G |
|
G->D:(0.0 %):LP/P Niemann-Pick disease B (NPDB) [MIM:607616] |
476 | R | S | e | 37.2 | 5jg8_B |
metal CL |
RNKSITEADFGLPQV |
|
R->W:(0.0 %):LP/P Niemann-Pick disease B (NPDB) dbSNP:rs1828129 [MIM:607616];R->Q:(1.0 %):US Niemann-Pick disease B (NPDB) dbSNP:rs7635669 [MIM:607616] |
477 | P | E | b | 13.2 | 5jg8_B |
|
PDNAEGKLSTV |
|
P->L:(1.0 %):LP/P Niemann-Pick disease A (NPDA) dbSNP:rs7535088 [MIM:257200];P->L:(1.0 %):LP/P Niemann-Pick disease B (NPDB) dbSNP:rs7535088 [MIM:607616] |
482 | F | E | b | 2.9 | 5jg8_B |
|
FYQWAEGKLSTV |
|
F->L:(1.0 %):LP/P Niemann-Pick disease B (NPDB) [MIM:607616] |
488 | T | S | b | 0.0 | 5jg8_B |
|
TD |
|
T->A:(0.0 %):LP/P Niemann-Pick disease B (NPDB) [MIM:607616] |
490 | Y | T | e | 22.2 | 5jg8_B |
precipitant |
YVSFLWR |
|
Y->N:(0.0 %):LP/P Niemann-Pick disease B (NPDB) dbSNP:rs3981234 [MIM:607616] |
492 | G | T | e | 20.2 | 5jg8_B |
|
GDNFWYHST |
|
G->S:(4.0 %):LP/P Niemann-Pick disease B (NPDB) dbSNP:rs1448733 [MIM:607616] |
496 | G | E | b | 0.0 | 5jg8_B |
|
GAKTS |
|
G->S:(6.0 %):LP/P Niemann-Pick disease B (NPDB) dbSNP:rs1554935 [MIM:607616] |
498 | R | E | b | 0.4 | 5jg8_B |
|
RVK |
|
R->L:(0.0 %):LP/P Niemann-Pick disease A (NPDA) dbSNP:rs1200741 [MIM:257200];R->C:(0.0 %):LP/P Niemann-Pick disease B (NPDB) dbSNP:rs7699047 [MIM:607616];R->H:(0.0 %):LP/P Niemann-Pick disease A (NPDA) dbSNP:rs1200741 [MIM:257200] |
516 | H | E | b | 1.0 | 5jg8_B |
|
YMLHIAFS |
|
H->Q:(0.0 %):LP/P Niemann-Pick disease B (NPDB) [MIM:607616] |
517 | E | E | b | 3.0 | 5jg8_B |
|
ETVYLPKS |
|
E->V:(14.0 %):LP/P Niemann-Pick disease B (NPDB) dbSNP:rs1427870 [MIM:607616] |
520 | I | E | b | 1.2 | 5jg8_B |
otherpoly |
FYHIPW |
|
I->L:(0.0 %):LP/P Niemann-Pick disease B (NPDB) [MIM:607616] |
522 | N | | e | 23.0 | 5jg8_B |
compound NAG otherpoly |
ND |
CARBOHYD /note="N-linked (GlcNAc...) asparagine" ECO:0000269|PubMed:27349982, ECO:0000269|PubMed:9030779, ECO:0007744|PDB:5I81, ECO:0007744|PDB:5I85, ECO:0007744|PDB:5I8R, ECO:0007744|PDB:5JG8" MUTAGEN /note="N->G: Loss of sphingomyelin phosphodiesterase activity. Loss of secretion." CARBOHYD /note="N-linked (GlcNAc...) asparagine" ECO:0000269|PubMed:27349982, ECO:0000269|PubMed:9030779, ECO:0007744|PDB:5I81, ECO:0007744|PDB:5I85, ECO:0007744|PDB:5I8R, ECO:0007744|PDB:5JG8" MUTAGEN /note="N->G: Loss of sphingomyelin phosphodiesterase activity. Loss of secretion." |
N->S:(0.0 %):LP/P Niemann-Pick disease B (NPDB) [MIM:607616] |
525 | Q | H | e | 62.2 | 5jg8_B |
compound NAG otherpoly |
EQDIKS |
|
Q->H:(0.0 %):LP/P Niemann-Pick disease B (NPDB) [MIM:607616] |
535 | W | E | b | 7.2 | 5jg8_B |
|
WYF |
|
W->R:(0.0 %):LP/P Niemann-Pick disease A (NPDA) dbSNP:rs1554935 [MIM:257200];W->R:(0.0 %):LP/P Niemann-Pick disease B (NPDB) dbSNP:rs1554935 [MIM:607616] |
549 | N | | e | 32.1 | 5jg8_B |
|
DNG |
|
N->K:(0.0 %):LP/P Niemann-Pick disease B (NPDB) [MIM:607616] |
551 | L | S | e | 26.4 | 5jg8_B |
|
SQYILTM |
|
L->P:(0.0 %):LP/P Niemann-Pick disease B (NPDB) [MIM:607616] |
565 | D | | e | 42.0 | 5jg8_B |
precipitant |
DSNEV |
|
D->Y:(0.0 %):LP/P Niemann-Pick disease B (NPDB) [MIM:607616] |
577 | H | T | b | 11.5 | 5jg8_B |
compound NT8 |
NFYHL |
|
H->D:(0.0 %):US Niemann-Pick disease B (NPDB) [MIM:607616] |
578 | K | T | b | 0.0 | 5jg8_B |
|
SRVK |
|
K->N:(0.0 %):LP/P Niemann-Pick disease B (NPDB) dbSNP:rs7473424 [MIM:607616] |
598 | Q | H | b | 1.0 | 5jg8_B |
|
IMQLN |
|
Q->R:(0.0 %):LP/P Niemann-Pick disease B (NPDB) dbSNP:rs1554935 [MIM:607616] |
599 | L | H | b | 0.0 | 5jg8_B |
|
LKMRQ |
|
L->F:(0.0 %):US Niemann-Pick disease B (NPDB) dbSNP:rs1385319 [MIM:607616] |
602 | R | S | b | 7.9 | 5jg8_B |
precipitant |
RDAHM |
|
R->H:(13.0 %):LP/P Niemann-Pick disease A (NPDA) dbSNP:rs3701290 [MIM:257200];R->H:(13.0 %):LP/P Niemann-Pick disease B (NPDB) dbSNP:rs3701290 [MIM:607616];R->P:(0.0 %):LP/P Niemann-Pick disease B (NPDB) [MIM:607616] |
610 | R | G | e | 54.5 | 5jg8_B |
|
RDILQAEGKNPSTV |
|
R->C:(0.0 %):US Niemann-Pick disease B (NPDB) dbSNP:rs3759151 [MIM:607616] |