PiSITE

PDB ID	1TFG	CHAIN	A
Protein name	TRANSFORMING GROWTH FACTOR, BETA 2
Uniprot Accession	P61812
The number of similar proteins	10
The number of binding states	5
The number of binding partners	4

Coloring

Unicolor (beige)

The number of binding partners

Group

Binding state	Binding partners
	1TFG (CHAIN: A)
1	Monomeric state
2	P26342
3	P61812 4KXZ 4KXZ 4KXZ
4	P61812 6XM2 6XM2 6XM2 6XM2
5	P61812 7RCO 7RCO 7RCO 7RCO

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Molecule viewer

Only interaction residues

#binding
partners

	3
	2
	1
	0

Sequence information

1

ALDAAYCFRN

VQDNCCLRPL

YIDFKRDLGW

KWIHEPKGYN

ANFCAGACPY

50

51

LWSSDTQHSR

VLSLYNTINP

EASASPCCVS

QDLEPLTILY

YIGKTPKIEQ

100

101

LSNMIVKSCK

CS

150

Variants

	Residue	AA	Source / dbSNP	Clinical Significance	Allele Frequency (> 0.0001)	AlphaMissense pathogenicity	Disease name
	4_ALA	VAL	8.3kJPN chr1:218609474 rs989462091	-	0.0001	0.4019	-
	5_ALA	VAL	8.3kJPN chr1:218609477 -	-	0.0001	0.3501	-
	9_ARG	LYS	ClinVar chr1:218609489 rs1064793278	Likely pathogenic	-	0.1194	not provided [MedGen:CN517202]
	16_CYS	PHE	ClinVar chr1:218610705 rs863223793	Likely pathogenic	-	0.9975	not provided [MedGen:CN517202]
	18_ARG	CYS	VAR_072740 rs1553303352	LB/B	-	0.96	-
	18_ARG	CYS	ClinVar chr1:218610710 rs1553303352	Pathogenic/Likely pathogenic	-	0.96	Loeys-Dietz syndrome 4\|not provided [MONDO:MONDO:0013897,MedGen:C3553762,OMIM:614816\|MedGen:C3661900]
	18_ARG	HIS	8.3kJPN chr1:218610711 rs896426406	-	0.0001	0.4445	-
	36_PRO	HIS	VAR_068934 rs387907278	LP/P	-	0.9993	Loeys-Dietz syndrome 4 (LDS4) [MIM:614816]
	36_PRO	HIS	ClinVar chr1:218610765 rs387907278	Pathogenic	-	0.9993	Loeys-Dietz syndrome 4 [MONDO:MONDO:0013897,MedGen:C3553762,OMIM:614816]
	36_PRO	THR	ClinVar chr1:218610764 rs2102630084	Pathogenic	-	0.9971	Atrial septal defect 1 [MONDO:MONDO:0007172,MedGen:C1862389,OMIM:108800,Orphanet:1478]
	39_TYR	TER	ClinVar chr1:218610775 rs1553303357	Pathogenic	-	-	Familial thoracic aortic aneurysm and aortic dissection [MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387]
	45_ALA	GLY	8.3kJPN chr1:218610792 -	-	0.0001	0.4117	-
	65_TYR	TER	ClinVar chr1:218614560 -	Likely pathogenic	-	-	Familial thoracic aortic aneurysm and aortic dissection [MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387]
	78_CYS	TRP	ClinVar chr1:218614599 rs201129153	Likely pathogenic	-	0.9998	not provided [MedGen:CN517202]
	78_CYS	PHE	ClinVar chr1:218614598 rs1553303745	Likely pathogenic	-	0.9996	Familial thoracic aortic aneurysm and aortic dissection [MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387]
	79_VAL	MET	8.3kJPN chr1:218614600 rs376159002	-	0.0001	0.8791	-
	90_TYR	CYS	8.3kJPN chr1:218614634 rs1218609815	-	0.0001	0.9669	-
	94_LYS	GLN	8.3kJPN chr1:218614645 rs751650226	-	0.0008	0.1512	-

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Reference

PiSite: a database of protein interaction sites using multiple binding states in the PDB, Miho Higurashi, Takashi Ishida and Kengo Kinoshita, Nucleic Acids Research 2009 37(Database issue):D360-D364