PiSITE

PDB ID	1KTZ	CHAIN	A
Protein name	TRANSFORMING GROWTH FACTOR BETA 3
Uniprot Accession	P10600
The number of similar proteins	10
The number of binding states	7
The number of binding partners	6

Coloring

Unicolor (beige)

The number of binding partners

Group

Binding state	Binding partners
	1KTZ (CHAIN: A)
1	P37173
2	Monomeric state
3	P37173 P36897
4	P10600 8V52 8V52
5	P10600 A0A0H3UK16 P36897
6	P10600 3EO1 3EO1 3EO1
7	P10600 A0A0H3UK16 P37173 P36897

Downdload

Molecule viewer

Only interaction residues

#binding
partners

	4
	3
	2
	1
	0

Sequence information

1

ALDTNYCFRN

LEENCCVRPL

YIDFRQDLGW

KWVHEPKGYY

ANFCSGPCPY

50

51

LRSADTTHST

VLGLYNTLNP

EASASPCCVP

QDLEPLTILY

YVGRTPKVEQ

100

101

LSNMVVKSCK

CS

150

Variants

	Residue	AA	Source / dbSNP	Clinical Significance	Allele Frequency (> 0.0001)	AlphaMissense pathogenicity	Disease name
	13_GLU	ASP	8.3kJPN chr14:76427407 -	-	0.0001	0.1048	-
	25_ARG	TER	ClinVar chr14:76427373 rs1555360229	Pathogenic/Likely pathogenic	-	-	Familial thoracic aortic aneurysm and aortic dissection\|not provided\|Rienhoff syndrome\|Loeys-Dietz syndrome [MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387\|MedGen:C3661900\|MONDO:MONDO:0014262,MedGen:C3810012,OMIM:615582\|MONDO:MONDO:0018954,MedGen:C2697932,OMIM:PS609192,Orphanet:60030]
	30_TRP	TER	ClinVar chr14:76427357 rs1555360222	Pathogenic/Likely pathogenic	-	-	Rienhoff syndrome\|not provided [MONDO:MONDO:0014262,MedGen:C3810012,OMIM:615582\|MedGen:C3661900]
	30_TRP	TER	ClinVar chr14:76427356 rs2140236217	Pathogenic	-	-	Rienhoff syndrome [MONDO:MONDO:0014262,MedGen:C3810012,OMIM:615582]
	32_TRP	CYS	ClinVar chr14:76427350 rs2140236210	Likely pathogenic	-	1.0	not provided [MedGen:C3661900]
	32_TRP	TER	ClinVar chr14:76427350 rs2140236210	Pathogenic	-	-	Rienhoff syndrome [MONDO:MONDO:0014262,MedGen:C3810012,OMIM:615582]
	40_TYR	TER	ClinVar chr14:76427326 rs778990969	Pathogenic	-	-	not provided [MedGen:C3661900]
	45_SER	TER	ClinVar chr14:76427312 rs1060502827	Pathogenic/Likely pathogenic	-	-	not provided\|Familial thoracic aortic aneurysm and aortic dissection\|Rienhoff syndrome [MedGen:C3661900\|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387\|MONDO:MONDO:0014262,MedGen:C3810012,OMIM:615582]; Arrhythmogenic right ventricular dysplasia 1\|Developmental disorder\|Rienhoff syndrome [MONDO:MONDO:0007152,MedGen:C1862511,OMIM:107970,Orphanet:3403\|MedGen:C0008073\|MONDO:MONDO:0014262,MedGen:C3810012,OMIM:615582]
	75_SER	TER	ClinVar chr14:76425645 -	Likely pathogenic	-	-	Familial thoracic aortic aneurysm and aortic dissection [MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387]
	78_CYS	TER	ClinVar chr14:76425635 -	Pathogenic	-	-	Rienhoff syndrome [MONDO:MONDO:0014262,MedGen:C3810012,OMIM:615582]
	99_GLU	TER	ClinVar chr14:76425574 rs1555360027	Likely pathogenic	-	-	not provided\|Rienhoff syndrome [MedGen:C3661900\|MONDO:MONDO:0014262,MedGen:C3810012,OMIM:615582]
	101_LEU	PRO	ClinVar chr14:76425567 rs2504093512	Likely pathogenic	-	0.9992	Rienhoff syndrome [MONDO:MONDO:0014262,MedGen:C3810012,OMIM:615582]
	107_LYS	TER	ClinVar chr14:76425550 rs1248127840	Pathogenic	-	-	Rienhoff syndrome [MONDO:MONDO:0014262,MedGen:C3810012,OMIM:615582]
	109_CYS	TYR	VAR_070924 rs398122984	LP/P	-	0.9997	Loeys-Dietz syndrome 5 (LDS5) [MIM:615582]
	109_CYS	TYR	ClinVar chr14:76425543 rs398122984	Pathogenic	-	0.9997	Rienhoff syndrome [MONDO:MONDO:0014262,MedGen:C3810012,OMIM:615582]

(Powered by wupsivus)

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