PiSITE

PDB ID	1KLA	CHAIN	A
Protein name	TRANSFORMING GROWTH FACTOR-BETA 1
Uniprot Accession	P01137
The number of similar proteins	12
The number of binding states	4
The number of binding partners	6

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The number of binding partners

Group

Binding state	Binding partners
	1KLA (CHAIN: A)
1	P01137
2	P01137 P36897 P36897 P37173
3	P01137 Q14392 P01137 P01137
4	P01137 6GFF Q14392 P01137 P01137

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Only interaction residues

#binding
partners

	3
	2
	1
	0

Sequence information

1

ALDTNYCFSS

TEKNCCVRQL

YIDFRKDLGW

KWIHEPKGYH

ANFCLGPCPY

50

51

IWSLDTQYSK

VLALYNQHNP

GASAAPCCVP

QALEPLPIVY

YVGRKPKVEQ

100

101

LSNMIVRSCK

CS

150

Variants

	Residue	AA	Source / dbSNP	Clinical Significance	Allele Frequency (> 0.0001)	AlphaMissense pathogenicity	Disease name
	3_ASP	HIS	8.3kJPN chr19:41847807 -	-	0.0001	0.7645	-
	10_SER	PHE	8.3kJPN chr19:41838184 -	-	0.0001	0.3595	-
	18_ARG	GLN	gnomAD chr19:41838160 rs200164212	-	0.00041832	0.2626	-
	18_ARG	GLN	8.3kJPN chr19:41838160 rs200164212	-	0.0001	0.2626	-
	21_TYR	TER	ClinVar chr19:41838150 rs1057521741	Likely pathogenic	-	-	not provided [MedGen:CN517202]
	29_GLY	SER	8.3kJPN chr19:41838128 -	-	0.0001	0.4519	-
	59_SER	THR	gnomAD chr19:41838037 rs199699574	-	0.000608805	0.3173	-
	75_ALA	VAL	8.3kJPN chr19:41837072 -	-	0.0002	0.2942	-
	107_ARG	GLY	8.3kJPN chr19:41836977 rs981119783	-	0.0001	0.4536	-
	109_CYS	ARG	VAR_081586 -	LP/P	-	0.9992	Inflammatory bowel disease, immunodeficiency, and encephalopathy (IBDIMDE) [MIM:618213]
	109_CYS	ARG	ClinVar chr19:41836971 rs1336387628	Likely pathogenic	-	0.9992	Encephalopathy [Human Phenotype Ontology:HP:0001298,MedGen:C0085584]; Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome\|Inflammatory bowel disease, immunodeficiency, and encephalopathy [MONDO:MONDO:0016542,MedGen:C4749850,Orphanet:238569\|MONDO:MONDO:0032601,MedGen:C4748708,OMIM:618213,Orphanet:565788]
	110_LYS	ASN	8.3kJPN chr19:41836966 rs943475580	-	0.0002	0.9676	-

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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