PiSITE

PDB ID	1LM8	CHAIN	V
Protein name	Von Hippel-Lindau disease tumor suppressor
Uniprot Accession	P40337
The number of similar proteins	141
The number of binding states	25
The number of binding partners	13

Binding state	Binding partners
	1LM8 (CHAIN: V)
1	Q15369 Q15370
2	Q15369
3	Q16878
4	Q15369 Q13617
5	Q15369 Q15370 P51531
6	Q15369 Q15370 O60885
7	Q15369 Q15370 P61964
8	Q15369 Q15370 Q13451
9	P01116 Q15369 Q15370
10	Q15369 Q15370 Q16665
11	Q15369 Q15370 P10415
12	Q15369 Q15370 Q16878
13	Q15369 Q15369 Q15370
14	P40337 Q15369 Q15370
15	Q15369-2 Q15370 Q05397
16	P40337 Q15370 Q15370 P51531
17	P40337 P40337 Q15369 Q15370
18	P40337 Q15369 Q15369 Q15370
19	P40337 Q15369 Q15369 Q15370 Q15370 Q15370 P51531
20	P40337 P40337 Q15369 Q15369 Q15370 Q15370 Q15370 P51531
21	P40337 P40337 Q15369 Q15369 Q15370 Q15370 P51531 P51531
22	P40337 P40337 Q15369 Q15369 Q15370 P51531 P51531 P51531
23	P40337 P40337 Q15369 Q15369 Q15370 Q15370 P51531 P51531 P51531
24	P40337 P40337 Q15369 Q15369 Q15370 Q15370 Q15370 P51531 P51531
25	P40337 P40337 Q15369 Q15369 Q15370 Q15370 Q15370 P51531 P51531 P51531

Molecule viewer

Only interaction residues

#binding
partners

	>9
	8
	7
	6
	5
	4
	3
	2
	1
	0

Sequence information

1

MEAGRPRPVL

RSVNSREPSQ

VIFCNRSPRV

VLPVWLNFDG

EPQPYPTLPP

50

51

GTGRRIHSYR

GHLWLFRDAG

THDGLLVNQT

ELFVPSLNVD

GQPIFANITL

100

101

PVYTLKERCL

QVVRSLVKPE

NYRRLDIVRS

LYEDLEDHPN

VQKDLERLTQ

150

151

ERIAHQRMGD

200

Binding partner information

	Q15369	Elongin-C
	Q15370	Elongin-B

Binding partner information

Q15369

PROTEIN (ELONGIN C)

Binding partner information

Q16878

Cysteine dioxygenase type 1

Binding partner information

	Q15369	Elongin-C
	Q13617	Cullin-2

Binding partner information

	Q15369	Elongin-C
	Q15370	Elongin-B
	P51531	Isoform Short of Probable global transcription activator SNF2L2

Binding partner information

	Q15369	Transcription elongation factor B polypeptide 1
	Q15370	Transcription elongation factor B polypeptide 2
	O60885	Bromodomain-containing protein 4

Binding partner information

	Q15369	Elongin-C
	Q15370	Elongin-B
	P61964	WD repeat-containing protein 5

Binding partner information

	Q15369	Elongin-C
	Q15370	Elongin-B
	Q13451	Peptidyl-prolyl cis-trans isomerase FKBP5

Binding partner information

	P01116	GTPase KRas
	Q15369	Elongin-C
	Q15370	Elongin-B

Binding partner information

	Q15369	Elongin C
	Q15370	Elongin B
	Q16665	Hypoxia-inducible factor 1 ALPHA

Binding partner information

	Q15369	Elongin-C
	Q15370	Elongin-B
	P10415	Apoptosis regulator Bcl-2

Binding partner information

	Q15369	Elongin-C
	Q15370	Elongin-B
	Q16878	Cysteine dioxygenase type 1

Binding partner information

	Q15369	Elongin-C
	Q15369	Elongin-C
	Q15370	Elongin-B

Binding partner information

	P40337	von Hippel-Lindau disease tumor suppressor
	Q15369	Elongin-C
	Q15370	Elongin-B

Binding partner information

	Q15369-2	Isoform 2 of Elongin-C
	Q15370	Elongin-B
	Q05397	Focal adhesion kinase 1

Binding partner information

	P40337	von Hippel-Lindau disease tumor suppressor
	Q15370	Elongin-B
	Q15370	Elongin-B
	P51531	Isoform Short of Probable global transcription activator SNF2L2

Binding partner information

	P40337	von Hippel-Lindau disease tumor suppressor
	P40337	von Hippel-Lindau disease tumor suppressor
	Q15369	Elongin-C
	Q15370	Elongin-B

Binding partner information

	P40337	von Hippel-Lindau disease tumor suppressor
	Q15369	Elongin-C
	Q15369	Elongin-C
	Q15370	Elongin-B

Binding partner information

	P40337	von Hippel-Lindau disease tumor suppressor
	Q15369	Elongin-C
	Q15369	Elongin-C
	Q15370	Elongin-B
	Q15370	Elongin-B
	Q15370	Elongin-B
	P51531	Isoform Short of Probable global transcription activator SNF2L2

Binding partner information

	P40337	von Hippel-Lindau disease tumor suppressor
	P40337	von Hippel-Lindau disease tumor suppressor
	Q15369	Elongin-C
	Q15369	Elongin-C
	Q15370	Elongin-B
	Q15370	Elongin-B
	Q15370	Elongin-B
	P51531	Isoform Short of Probable global transcription activator SNF2L2

Binding partner information

	P40337	von Hippel-Lindau disease tumor suppressor
	P40337	von Hippel-Lindau disease tumor suppressor
	Q15369	Elongin-C
	Q15369	Elongin-C
	Q15370	Elongin-B
	Q15370	Elongin-B
	P51531	Isoform Short of Probable global transcription activator SNF2L2
	P51531	Isoform Short of Probable global transcription activator SNF2L2

Binding partner information

	P40337	von Hippel-Lindau disease tumor suppressor
	P40337	von Hippel-Lindau disease tumor suppressor
	Q15369	Elongin-C
	Q15369	Elongin-C
	Q15370	Elongin-B
	P51531	Isoform Short of Probable global transcription activator SNF2L2
	P51531	Isoform Short of Probable global transcription activator SNF2L2
	P51531	Isoform Short of Probable global transcription activator SNF2L2

Binding partner information

	P40337	von Hippel-Lindau disease tumor suppressor
	P40337	von Hippel-Lindau disease tumor suppressor
	Q15369	Elongin-C
	Q15369	Elongin-C
	Q15370	Elongin-B
	Q15370	Elongin-B
	P51531	Isoform Short of Probable global transcription activator SNF2L2
	P51531	Isoform Short of Probable global transcription activator SNF2L2
	P51531	Isoform Short of Probable global transcription activator SNF2L2

Binding partner information

	P40337	von Hippel-Lindau disease tumor suppressor
	P40337	von Hippel-Lindau disease tumor suppressor
	Q15369	Elongin-C
	Q15369	Elongin-C
	Q15370	Elongin-B
	Q15370	Elongin-B
	Q15370	Elongin-B
	P51531	Isoform Short of Probable global transcription activator SNF2L2
	P51531	Isoform Short of Probable global transcription activator SNF2L2

Binding partner information

Variants

Residue	AA	Source / dbSNP	Clinical Significance	Allele Frequency (> 0.0001)	AlphaMissense pathogenicity	Disease name
61_PRO	LEU	8.3kJPN chr3:10183713 rs746582207	-	0.0001	0.3369	-
63_LEU	PRO	VAR_034987 rs104893827	LP/P	-	0.7414	Pheochromocytoma (PCC) [MIM:171300]
64_ARG	PRO	VAR_034988 rs104893826	LP/P	-	0.9621	Pheochromocytoma (PCC) [MIM:171300]
65_SER	LEU	VAR_005672 rs5030826	LP/P	-	0.9839	Von Hippel-Lindau disease (VHLD) [MIM:193300]
65_SER	TRP	VAR_005673 rs5030826	LP/P	-	0.981	Von Hippel-Lindau disease (VHLD) [MIM:193300]
65_SER	ALA	VAR_034989 rs869025616	LP/P	-	0.6913	Pheochromocytoma (PCC) [MIM:171300]
68_SER	TRP	VAR_005675 rs869025617	LP/P	-	0.8354	Pheochromocytoma (PCC) [MIM:171300]
70_GLU	LYS	VAR_005676 rs5030802	LP/P	-	0.6772	Von Hippel-Lindau disease (VHLD) [MIM:193300]
70_GLU	ASP	8.3kJPN chr3:10183741 -	-	0.0001	0.5105	-
74_VAL	GLY	VAR_005677 rs5030803	LP/P	-	0.8853	Von Hippel-Lindau disease (VHLD) [MIM:193300]
76_PHE	ILE	VAR_005679 rs1559425911	LP/P	-	0.9507	Von Hippel-Lindau disease (VHLD) [MIM:193300]
76_PHE	LEU	VAR_005680 rs1575921940	LP/P	-	0.9963	Von Hippel-Lindau disease (VHLD) [MIM:193300]
76_PHE	SER	VAR_005681 rs730882033	LP/P	-	0.9987	Von Hippel-Lindau disease (VHLD) [MIM:193300]
78_ASN	HIS	VAR_005682 rs869025621	LP/P	-	0.9869	Von Hippel-Lindau disease (VHLD) [MIM:193300]
78_ASN	SER	VAR_005683 rs5030804	LP/P	-	0.8815	Von Hippel-Lindau disease (VHLD) [MIM:193300]
78_ASN	THR	VAR_005684 rs5030804	LP/P	-	0.9859	Von Hippel-Lindau disease (VHLD) [MIM:193300]
79_ARG	PRO	VAR_005685 rs2125125087	LP/P	-	0.9926	Von Hippel-Lindau disease (VHLD) [MIM:193300]
80_SER	ILE	VAR_005686 rs5030805	LP/P	-	0.9697	Von Hippel-Lindau disease (VHLD) [MIM:193300]
80_SER	ARG	VAR_005687 rs786202787	LP/P	-	0.9985	Von Hippel-Lindau disease (VHLD) [MIM:193300]
80_SER	ASN	VAR_005688 rs5030805	LP/P	-	0.9755	Pheochromocytoma (PCC) [MIM:171300]
81_PRO	SER	VAR_005689 rs104893829	LB/B	-	0.5826	Von Hippel-Lindau disease (VHLD) [MIM:193300]
81_PRO	SER	gnomAD chr3:10183772 rs104893829	-	0.000199837	0.5826	-
82_ARG	PRO	VAR_005690 rs794726890	LP/P	-	0.9904	Von Hippel-Lindau disease (VHLD) [MIM:193300]
84_VAL	LEU	VAR_005692 rs5030827	LP/P	-	0.9495	Von Hippel-Lindau disease (VHLD) [MIM:193300]
86_PRO	ALA	VAR_005693 rs398123481	LP/P	-	0.9056	Von Hippel-Lindau disease (VHLD) [MIM:193300]
86_PRO	LEU	VAR_005694 rs730882034	LP/P	-	0.9125	Von Hippel-Lindau disease (VHLD) [MIM:193300]
86_PRO	ARG	VAR_005695 rs730882034	LP/P	-	0.9948	Von Hippel-Lindau disease (VHLD) [MIM:193300]
86_PRO	SER	VAR_005696 rs398123481	LP/P	-	0.9898	Von Hippel-Lindau disease (VHLD) [MIM:193300]
86_PRO	HIS	VAR_008097 rs730882034	LP/P	-	0.9971	Von Hippel-Lindau disease (VHLD) [MIM:193300]
88_TRP	ARG	VAR_005697 rs1553619431	LP/P	-	0.999	Von Hippel-Lindau disease (VHLD) [MIM:193300]
88_TRP	SER	VAR_005698 rs119103277	LP/P	-	0.9957	Von Hippel-Lindau disease (VHLD) [MIM:193300]
89_LEU	HIS	VAR_005699 rs5030807	US	-	0.9889	Lung cancer
89_LEU	PRO	VAR_005700 rs5030807	LP/P	-	0.9939	Von Hippel-Lindau disease (VHLD) [MIM:193300]
91_PHE	LEU	VAR_005701 rs1060503563	US	-	0.9977	-
92_ASP	TYR	8.3kJPN chr3:10183805 rs587780731	-	0.0001	0.1985	-
93_GLY	CYS	VAR_005703 rs5030808	LP/P	-	0.9881	Pheochromocytoma (PCC) [MIM:171300]
93_GLY	ASP	VAR_005704 rs1553619440	LP/P	-	0.9966	Von Hippel-Lindau disease (VHLD) [MIM:193300]
93_GLY	SER	VAR_005705 rs5030808	LP/P	-	0.9609	Pheochromocytoma (PCC) [MIM:171300]
96_GLN	PRO	VAR_005706 rs1559426089	LP/P	-	0.9611	Von Hippel-Lindau disease (VHLD) [MIM:193300]
98_TYR	HIS	VAR_005707 rs5030809	LP/P	-	0.9734	Pheochromocytoma (PCC) [MIM:171300]
100_THR	ALA	8.3kJPN chr3:10183829 rs745901803	-	0.0001	0.0875	-
101_LEU	GLY	VAR_005708 -	LP/P	-	0.9935	Von Hippel-Lindau disease (VHLD) [MIM:193300]
101_LEU	ARG	VAR_005709 -	LP/P	-	0.9778	Von Hippel-Lindau disease (VHLD) [MIM:193300]
104_GLY	ALA	VAR_005710 rs869025630	LB/B	-	0.5401	-
105_THR	PRO	VAR_005711 rs1553619461	LP/P	-	0.8165	Von Hippel-Lindau disease (VHLD) [MIM:193300]
106_GLY	ASP	VAR_005712 rs1446876735	US	-	0.9878	Lung cancer
107_ARG	PRO	VAR_005713 rs193922609	LP/P	-	0.9902	Von Hippel-Lindau disease (VHLD) [MIM:193300]
107_ARG	GLY	VAR_034991 rs397516440	LP/P	-	0.8711	Pheochromocytoma (PCC) [MIM:171300]
110_HIS	TYR	VAR_055087 rs17855706	LB/B	-	0.2923	-
111_SER	CYS	VAR_005714 rs1559426203	LP/P	-	0.8407	Von Hippel-Lindau disease (VHLD) [MIM:193300]
111_SER	ASN	VAR_005715 rs869025631	LP/P	-	0.9764	Von Hippel-Lindau disease (VHLD) [MIM:193300]
111_SER	ARG	VAR_005716 rs765978945	LP/P	-	0.9988	Von Hippel-Lindau disease (VHLD) [MIM:193300]
112_TYR	HIS	VAR_005717 rs104893824	LP/P	-	0.9843	Von Hippel-Lindau disease (VHLD) [MIM:193300]
112_TYR	ASN	VAR_034992 rs104893824	LP/P	-	0.991	Von Hippel-Lindau disease (VHLD) [MIM:193300]
114_GLY	CYS	VAR_005718 rs869025636	LP/P	-	0.9136	Von Hippel-Lindau disease (VHLD) [MIM:193300]
114_GLY	ARG	VAR_005719 rs869025636	LP/P	-	0.9626	Von Hippel-Lindau disease (VHLD) [MIM:193300]
114_GLY	SER	VAR_005720 rs869025636	LP/P	-	0.646	Von Hippel-Lindau disease (VHLD) [MIM:193300]
115_HIS	TYR	VAR_005722 rs5030811	LP/P	-	0.9835	Von Hippel-Lindau disease (VHLD) [MIM:193300]
115_HIS	GLN	VAR_005723 rs864622646	LP/P	-	0.9972	Von Hippel-Lindau disease (VHLD) [MIM:193300]
115_HIS	ARG	VAR_008098 rs5030812	LP/P	-	0.9952	Von Hippel-Lindau disease (VHLD) [MIM:193300]
116_LEU	VAL	VAR_005724 -	LP/P	-	0.2453	Von Hippel-Lindau disease (VHLD) [MIM:193300]
117_TRP	CYS	VAR_005725 rs727504215	LP/P	-	0.9978	Von Hippel-Lindau disease (VHLD) [MIM:193300]
118_LEU	PRO	VAR_005726 rs5030830	LP/P	-	0.9919	Von Hippel-Lindau disease (VHLD) [MIM:193300]
118_LEU	ARG	VAR_005727 rs5030830	LP/P	-	0.9009	Von Hippel-Lindau disease (VHLD) [MIM:193300]
119_PHE	LEU	VAR_005728 rs1553619948	LP/P	-	0.9988	Pheochromocytoma (PCC) [MIM:171300]
119_PHE	SER	VAR_005729 -	LP/P	-	0.9979	Von Hippel-Lindau disease (VHLD) [MIM:193300]
121_ASP	GLY	VAR_005730 rs5030832	LP/P	-	0.9798	Von Hippel-Lindau disease (VHLD) [MIM:193300]
122_ALA	ILE	VAR_034993 -	LP/P	-	0.5976	Pheochromocytoma (PCC) [MIM:171300]
126_ASP	TYR	VAR_034994 rs104893831	LP/P	-	0.9291	Erythrocytosis, familial, 2 (ECYT2) [MIM:263400]
128_LEU	PHE	VAR_005731 rs1553619956	LP/P	-	0.8028	Von Hippel-Lindau disease (VHLD) [MIM:193300]
129_LEU	VAL	8.3kJPN chr3:10188242 rs369018004	-	0.0002	0.3736	-
130_VAL	LEU	VAR_005733 rs104893830	LP/P	-	0.9499	Erythrocytosis, familial, 2 (ECYT2) [MIM:263400]
131_ASN	LYS	VAR_005734 rs1064794272	LP/P	-	0.9924	Von Hippel-Lindau disease (VHLD) [MIM:193300]
131_ASN	THR	VAR_005735 -	LP/P	-	0.9632	Von Hippel-Lindau disease (VHLD) [MIM:193300]
135_LEU	PHE	VAR_034995 rs119103278	LB/B	-	0.6344	-
136_PHE	SER	VAR_005736 rs5030833	LP/P	-	0.9958	Von Hippel-Lindau disease (VHLD) [MIM:193300]
136_PHE	CYS	VAR_005737 rs5030833	LP/P	-	0.9929	Pheochromocytoma (PCC) [MIM:171300]
136_PHE	TYR	VAR_008099 rs5030833	LP/P	-	0.6973	Von Hippel-Lindau disease (VHLD) [MIM:193300]
143_ASP	GLU	VAR_005738 rs773556807	LP/P	-	0.5896	Von Hippel-Lindau disease (VHLD) [MIM:193300]
145_GLN	HIS	VAR_008100 rs771727849	LP/P	-	0.7925	Von Hippel-Lindau disease (VHLD) [MIM:193300]
147_ILE	THR	VAR_034996 rs1060503555	LP/P	-	0.7372	Pheochromocytoma (PCC) [MIM:171300]
149_ALA	THR	VAR_005740 rs587780077	LP/P	-	0.8228	Von Hippel-Lindau disease (VHLD) [MIM:193300]
154_PRO	LEU	VAR_005741 rs1399097617	LP/P	-	0.9789	Von Hippel-Lindau disease (VHLD) [MIM:193300]
155_VAL	GLY	VAR_005742 rs2125130449	LP/P	-	0.8999	Von Hippel-Lindau disease (VHLD) [MIM:193300]
155_VAL	MET	VAR_008101 rs869025659	LP/P	-	0.79	Von Hippel-Lindau disease (VHLD) [MIM:193300]
156_TYR	CYS	VAR_005743 rs397516441	LP/P	-	0.8533	Pheochromocytoma (PCC) [MIM:171300]
156_TYR	ASP	VAR_005744 rs2125130454	LP/P	-	0.9612	Von Hippel-Lindau disease (VHLD) [MIM:193300]
156_TYR	ASN	VAR_034997 rs2125130454	LP/P	-	0.9365	Pheochromocytoma (PCC) [MIM:171300]
157_THR	ILE	VAR_005746 rs869025660	LP/P	-	0.9812	Von Hippel-Lindau disease (VHLD) [MIM:193300]
158_LEU	PRO	VAR_005748 rs121913346	LP/P	-	0.9948	Von Hippel-Lindau disease (VHLD) [MIM:193300]
158_LEU	VAL	VAR_005749 rs1559429613	LP/P	-	0.9	Von Hippel-Lindau disease (VHLD) [MIM:193300]
159_LYS	GLU	VAR_005750 rs1575932011	LP/P	-	0.9437	Von Hippel-Lindau disease (VHLD) [MIM:193300]
161_ARG	GLN	VAR_005751 rs730882035	LP/P	-	0.871	Pheochromocytoma (PCC) [MIM:171300]
161_ARG	PRO	VAR_005752 rs730882035	LP/P	-	0.997	Pheochromocytoma (PCC) [MIM:171300]
161_ARG	GLY	VAR_005753 rs5030818	LP/P	-	0.9656	Von Hippel-Lindau disease (VHLD) [MIM:193300]
162_CYS	PHE	VAR_005754 rs397516444	LP/P	-	0.9903	Von Hippel-Lindau disease (VHLD) [MIM:193300]
162_CYS	ARG	VAR_005755 rs1553620313	LP/P	-	0.9982	Von Hippel-Lindau disease (VHLD) [MIM:193300]
162_CYS	TRP	VAR_005756 rs5030622	LP/P	-	0.998	Von Hippel-Lindau disease (VHLD) [MIM:193300]
162_CYS	TYR	VAR_005757 rs397516444	LP/P	-	0.9974	Von Hippel-Lindau disease (VHLD) [MIM:193300]
163_LEU	PRO	VAR_034998 rs28940297	LP/P	-	0.9964	Renal cell carcinoma (RCC) [MIM:144700]
164_GLN	ARG	VAR_005758 rs267607170	LP/P	-	0.9482	Von Hippel-Lindau disease (VHLD) [MIM:193300]
164_GLN	HIS	VAR_008102 rs1352275281	LP/P	-	0.9835	Von Hippel-Lindau disease (VHLD) [MIM:193300]
166_VAL	PHE	VAR_005759 rs104893825	LP/P	-	0.8955	Von Hippel-Lindau disease (VHLD) [MIM:193300]
166_VAL	ASP	VAR_008103 rs397516445	LP/P	-	0.997	Von Hippel-Lindau disease (VHLD) [MIM:193300]
167_ARG	GLY	VAR_005760 rs5030820	LP/P	-	0.9813	Von Hippel-Lindau disease (VHLD) [MIM:193300]
167_ARG	GLN	VAR_005761 rs5030821	LP/P	-	0.8791	Pheochromocytoma (PCC) [MIM:171300]
167_ARG	TRP	VAR_005762 rs5030820	LP/P	-	0.9317	Pheochromocytoma (PCC) [MIM:171300]
169_LEU	VAL	8.3kJPN chr3:10191512 -	-	0.0001	0.3229	-
170_VAL	ASP	VAR_005763 rs864321642	LP/P	-	0.9961	Von Hippel-Lindau disease (VHLD) [MIM:193300]
170_VAL	PHE	VAR_005764 rs1553620326	LP/P	-	0.9737	Von Hippel-Lindau disease (VHLD) [MIM:193300]
170_VAL	GLY	VAR_005765 rs864321642	LP/P	-	0.9034	Von Hippel-Lindau disease (VHLD) [MIM:193300]
175_TYR	ASP	VAR_005766 -	LP/P	-	0.987	Von Hippel-Lindau disease (VHLD) [MIM:193300]
176_ARG	TRP	VAR_008104 -	LP/P	-	0.6419	Von Hippel-Lindau disease (VHLD) [MIM:193300]
178_LEU	PRO	VAR_005768 rs5030822	LP/P	-	0.9954	Von Hippel-Lindau disease (VHLD) [MIM:193300]
178_LEU	GLN	VAR_005769 rs5030822	LP/P	-	0.9901	Von Hippel-Lindau disease (VHLD) [MIM:193300]
180_ILE	VAL	VAR_005770 rs377715747	LP/P	-	0.5969	Von Hippel-Lindau disease (VHLD) [MIM:193300]
183_SER	LEU	8.3kJPN chr3:10191555 rs5030823	-	0.0002	0.7413	-
184_LEU	ARG	VAR_005771 rs1064793878	LP/P	-	0.9743	Von Hippel-Lindau disease (VHLD) [MIM:193300]
184_LEU	PRO	VAR_005772 rs1064793878	LP/P	-	0.9905	Von Hippel-Lindau disease (VHLD) [MIM:193300]
186_GLU	LYS	VAR_005773 rs367545984	LP/P	-	0.4226	Von Hippel-Lindau disease (VHLD) [MIM:193300]
188_LEU	PRO	VAR_005775 rs1559429824	LP/P	-	0.9964	Von Hippel-Lindau disease (VHLD) [MIM:193300]
188_LEU	GLN	VAR_005776 rs1559429824	LP/P	-	0.996	Von Hippel-Lindau disease (VHLD) [MIM:193300]
188_LEU	VAL	VAR_005777 rs5030824	US	-	0.7768	Erythrocytosis, familial, 2 (ECYT2) [MIM:263400]
191_HIS	ASP	VAR_034999 rs28940301	LP/P	-	0.5685	Erythrocytosis, familial, 2 (ECYT2) [MIM:263400]
192_PRO	SER	VAR_035000 rs28940300	LP/P	-	0.9606	Erythrocytosis, familial, 2 (ECYT2) [MIM:263400]
198_LEU	ARG	VAR_005778 -	LP/P	-	0.5842	Erythrocytosis, familial, 2 (ECYT2) [MIM:263400]
198_LEU	GLN	VAR_035001 rs869025667	LP/P	-	0.7012	Pheochromocytoma (PCC) [MIM:171300]
200_ARG	TRP	VAR_005779 rs28940298	LP/P	-	0.4476	Erythrocytosis, familial, 2 (ECYT2) [MIM:263400]
200_ARG	TRP	gnomAD chr3:10191605 rs28940298	-	0.000210855	0.4476	-
206_ILE	MET	8.3kJPN chr3:10191625 -	-	0.0001	0.0763	-

(Powered by wupsivus)

Coloring

Downdload

Molecule viewer

Sequence information

Binding partner information

Binding partner information

Binding partner information

Binding partner information

Binding partner information

Binding partner information

Binding partner information

Binding partner information

Binding partner information

Binding partner information

Binding partner information

Binding partner information

Binding partner information

Binding partner information

Binding partner information

Binding partner information

Binding partner information

Binding partner information

Binding partner information

Binding partner information

Binding partner information

Binding partner information

Binding partner information

Binding partner information

Binding partner information

Variants

Reference