HOMCOS:

		Contact Molecules for Homologous Proteins
[Summary Bars]	[Full Bars]	Sites by Variants[100 %]	[Back to Search Page]	[Back to HOMCOS]
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PID

QueryLength

Homolgous Sequence in PDB

UniProt Query

TITLE

2692367

631

P17405(ASM_HUMAN)

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;

QUERYSEQ

MPRYGASLRQSCPRSGREQGQDGTAGAPGLLWMGLVLALALALALALALSDSRVLWAPAEAHPLSPQGHPARLHRIVPRLRDVFGWGNLTCPICKGLFTAINLGLKKEPNVARVGSVAIKLCNLLKIAPPAVCQSIVHLFEDDMVEVWRR
SVLSPSEACGLLLGSTCGHWDIFSSWNISLPTVPKPPPKPPSPPAPGAPVSRILFLTDLHWDHDYLEGTDPDCADPLCCRRGSGLPPASRPGAGYWGEYSKCDLPLRTLESLLSGLGPAGPFDMVYWTGDIPAHDVWHQTRQDQLRALTT
VTALVRKFLGPVPVYPAVGNHESTPVNSFPPPFIEGNHSSRWLYEAMAKAWEPWLPAEALRTLRIGGFYALSPYPGLRLISLNMNFCSRENFWLLINSTDPAGQLQWLVGELQAAEDRGDKVHIIGHIPPGHCLKSWSWNYYRIVARYEN
TLAAQFFGHTHVDEFEVFYDEETLSRPLAVAFLAPSATTYIGLNPGYRVYQIDGNYSGSSHVVLDHETYILNLTQANIPGAIPHWQLLYRARETYGLPNTLPTAWHNLVYRMRGDMQLFQTFWFLYHKGHPPSEPCGTPCRLATLCAQLS
ARADSPALCRHLMPDGSLPEAQSLWPRPLFC

[BLAST file for PDB] (plain) (bar) (multiple alignment) [BLAST for UniProt: (plain) (bar) (multiple alignment) (PSSM file) ]

Statistics of sites in view of Disease classification

		All	257200 Niemann-Pick disease A (NPDA)	607616 Niemann-Pick disease B (NPDB)	LB/B (likely benign or benign)
Number of sites		631	42	68	9
Buired or Exposed	Buried	54.0 (%) [286]	90.5 (%) [38]	74.6 (%) [50]	62.5 (%) [5]
Buired or Exposed	Exposed	46.0 (%) [244]	9.5 (%) [4]	25.4 (%) [17]	37.5 (%) [3]
Ave relacc		26.2 %	6.4 %	12.5 %	30.0 %
SD relacc		27.08 %	8.35 %	15.37 %	36.87 %
Contact Mol	hetero	0.0 (%) [0]	0.0 (%) [0]	0.0 (%) [0]	0.0 (%) [0]
	nucleotide	0.0 (%) [0]	0.0 (%) [0]	0.0 (%) [0]	0.0 (%) [0]
	compound	5.1 (%) [32]	7.1 (%) [3]	7.4 (%) [5]	0.0 (%) [0]
	metal	1.3 (%) [8]	2.4 (%) [1]	2.9 (%) [2]	0.0 (%) [0]
	otherpoly	3.6 (%) [23]	2.4 (%) [1]	10.3 (%) [7]	0.0 (%) [0]
	homo	9.0 (%) [57]	2.4 (%) [1]	2.9 (%) [2]	0.0 (%) [0]
	precipitant	7.4 (%) [47]	4.8 (%) [2]	5.9 (%) [4]	0.0 (%) [0]
Number of variants		129	48	72	9
N_Freq(AAvariant)==0 %			70.8 % [34]	70.8 % [51]	44.4 % [4]
N_Freq(AAvariant)>0 %			29.2 % [14]	29.2 % [21]	55.6 % [5]
Ave Freq(AAvariant)			2.4 %	1.8 %	7.4 %
SD Freq(AAvariant)			6.02 %	5.00 %	13.23 %

Site Table for OMIM:257200 Niemann-Pick disease A (NPDA) [48 variants]

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]:site number of query sequence.  [a]:amino acid of query sequence.  [s]:predicted secondary structure.
  [e]:predicted exposed/buried.  [acc]:predicted relative accesssibility(%).  [pdb]:PDB code of homologous structure.
  [contact_mols]:predicted binding molecules  [observed aa]:Observed amino acids among homologous sequences.  [feature table]:UniProt Feature Table
  [variant]:UniProt Human Variant.

n	a	s	e	acc	pdb	contact_mols	observed aa	feature table	variant
105	L	H	b	16.3	5jg8_B	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		PLVWFIY		W->R:(0.0 %):LP/P Niemann-Pick disease A (NPDA) [MIM:257200]
216	L		e	24.7	5jg8_B		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		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 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 precipitant	HN		H->Y:(0.0 %):LP/P Niemann-Pick disease A (NPDA) [MIM:257200]
324	T	S	b	7.8	5jg8_B		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	SVNGRA		G->S:(29.0 %):LP/P Niemann-Pick disease A (NPDA) dbSNP:rs1200741 [MIM:257200]
602	R	S	b	7.9	5jg8_B		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]

Site Table for OMIM:607616 Niemann-Pick disease B (NPDB) [72 variants]

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]:site number of query sequence.  [a]:amino acid of query sequence.  [s]:predicted secondary structure.
  [e]:predicted exposed/buried.  [acc]:predicted relative accesssibility(%).  [pdb]:PDB code of homologous structure.
  [contact_mols]:predicted binding molecules  [observed aa]:Observed amino acids among homologous sequences.  [feature table]:UniProt Feature Table
  [variant]:UniProt Human Variant.

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	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		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		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		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		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 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 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		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		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		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]

Site Table for OMIM:LB/B [9 variants]

9 sites

36,296,318,324,487,507,508,510,605

  [n]:site number of query sequence.  [a]:amino acid of query sequence.  [s]:predicted secondary structure.
  [e]:predicted exposed/buried.  [acc]:predicted relative accesssibility(%).  [pdb]:PDB code of homologous structure.
  [contact_mols]:predicted binding molecules  [observed aa]:Observed amino acids among homologous sequences.  [feature table]:UniProt Feature Table
  [variant]:UniProt Human Variant.

n	a	s	e	acc	pdb	contact_mols	observed aa	feature table	variant
36	V	-	-	-	-		ILVAGSDEFKNPQRTY	SIGNAL SIGNAL	V->A:(2.0 %):LB/B - dbSNP:rs1050228
296	R	H	e	33.2	5jg8_B		ERFQLDNSYGIKA		R->Q:(10.0 %):LB/B - dbSNP:rs3582445
318	V		b	0.7	5jg8_B		LIV		V->E:(0.0 %):LB/B - dbSNP:rs1257513
324	T	S	b	7.8	5jg8_B		FYVWLTHAG		T->I:(0.0 %):LB/B - dbSNP:rs1050233;T->P:(0.0 %):US Niemann-Pick disease A (NPDA) [MIM:257200]
487	A	S	b	0.0	5jg8_B		VALDI		A->V:(43.0 %):LB/B - dbSNP:rs1416412
507	S	T	e	89.1	5jg8_B		DKAPSENFGILQRTV		S->G:(1.0 %):LB/B -
508	G	T	e	94.0	5jg8_B		GPYRSILADEFKNQTV		G->R:(11.0 %):LB/B - dbSNP:rs1050239
510	S		b	6.2	5jg8_B		TSDKAEGILNPRV	MOD_RES /note="Phosphoserine; by PKC/PRKCD" MUTAGEN /note="S->A: Abolishes constitutive secretion and decreases secretion in response to IL1B. No effect on lysosomal targeting. No effect on sphingomyelin phosphodiesterase activity. No effect on endolysosome location. Abolishes phosphorylation by PRKCD." ECO:0000269\|PubMed:20807762" MOD_RES /note="Phosphoserine; by PKC/PRKCD" MUTAGEN /note="S->A: Abolishes constitutive secretion and decreases secretion in response to IL1B. No effect on lysosomal targeting. No effect on sphingomyelin phosphodiesterase activity. No effect on endolysosome location. Abolishes phosphorylation by PRKCD." ECO:0000269\|PubMed:20807762"	S->F:(0.0 %):LB/B - dbSNP:rs2006526
605	S		b	8.6	5jg8_B		SDKAT		S->G:(0.0 %):LB/B -

Contact Molecules for Homologous Proteins

Sites by Variants[100 %]

Statistics of sites in view of Disease classification

Site Table for OMIM:257200 Niemann-Pick disease A (NPDA) [48 variants]

Site Table for OMIM:607616 Niemann-Pick disease B (NPDB) [72 variants]

Site Table for OMIM:LB/B [9 variants]