mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for TTR
Gene summary
Basic gene Info.Gene symbolTTR
Gene nametransthyretin
SynonymsCTS|CTS1|HEL111|HsT2651|PALB|TBPA
CytomapUCSC genome browser: 18q12.1
Type of geneprotein-coding
RefGenesNM_000371.3,
DescriptionATTRcarpal tunnel syndrome 1epididymis luminal protein 111prealbumin, amyloidosis type Ithyroxine-binding prealbumin
Modification date20141222
dbXrefs MIM : 176300
HGNC : HGNC
Ensembl : ENSG00000118271
HPRD : 01447
Vega : OTTHUMG00000131984
ProteinUniProt: P02766
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_TTR
BioGPS: 7276
PathwayNCI Pathway Interaction Database: TTR
KEGG: TTR
REACTOME: TTR
Pathway Commons: TTR
ContextiHOP: TTR
ligand binding site mutation search in PubMed: TTR
UCL Cancer Institute: TTR
Assigned class in mutLBSgeneDBA: This gene has a literature evidence and it belongs to targetable_mutLBSgenes.
References showing study about ligand binding site mutation for TTR.1. "Saraiva MJ. Transthyretin mutations in hyperthyroxinemia and amyloid diseases. Hum Mutat. 2001 Jun;17(6):493-503." 11385707
2. "Refetoff S, Marinov VS, Tunca H, Byrne MM, Sunthornthepvarakul T, Weiss RE. A new family with hyperthyroxinemia caused by transthyretin Val109 misdiagnosed as thyrotoxicosis and resistance to thyroid hormone--a clinical research center study. J Clin Endocrinol Metab. 1996 Sep;81(9):3335-40." 8784093

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID


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Ligand binding site mutations for TTR

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
D94D94YCOAD2
R124,P122R123CCOAD1
R124,P122R123HCOAD1
E19S18FCOAD1
S120S120YLUAD1
S135S135FLUSC1
A129A129TSTAD1
E19E19DSTAD1
W61,P63E62DSTAD1
R41R41QUCEC1
cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma.


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Protein structure related information for TTR
Relative protein structure stability change (ΔΔE) using Mupro 1.1
Mupro score denotes assessment of the effect of mutations on thermodynamic stability.
  (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability)
: nsSNV at non-LBS: nsSNV at LBS

nsSNVs sorted by the relative stability change of protein structure by each mutation
Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene.
LBSAAchange of nsSNVRelative stability change
P63E62D-1.0671819
W61E62D-1.0671819
S135S135F-0.97387058
A129A129T-0.88285012
E19E19D-0.73531725
D94D94Y-0.67357873
R124R123H-0.55257732
P122R123H-0.55257732
S120S120Y-0.36121725
P122R123C-0.32528852
R124R123C-0.32528852
R41R41Q-0.077749091
E19S18F-0.062048012
(MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132)

Structure image for TTR from PDB
PDB IDPDB titlePDB structure
1BMZHUMAN TRANSTHYRETIN (PREALBUMIN)

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Differential gene expression and gene-gene network for TTR
Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types

Differential co-expressed gene network based on protein-protein interaction data (CePIN)
* Left PPI network was created from samples with mutations in the LBS of TTR and the right PPI network was created from samples without mutations in the LBS of TTR. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


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Phenotype information for TTR
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0206245Amyloid Neuropathies, Familial150AlteredExpression, Biomarker, GeneticVariation
umls:C0740340Amyloidosis, Familial33Biomarker, GeneticVariation
umls:C2751492Amyloidosis, Hereditary, Transthyretin-Related24Biomarker, GeneticVariation
umls:C0007286Carpal Tunnel Syndrome16Biomarker, GeneticVariation
umls:C0024121Lung Neoplasms4AlteredExpression, Biomarker
umls:C0011609Drug Eruptions1Biomarker
umls:C0860207Drug-Induced Liver Injury1Biomarker

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs
52624A129TUncertain significanceGermlineMedGen:CN169374
179813R123HUncertain significanceGermlineMedGen:CN001491

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Pharmacological information for TTR
Gene expression profile of anticancer drug treated cell-lines (CCLE)
Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient.

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of TTR go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS


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Conservation information for LBS of TTR
Multiple alignments for P02766 in multiple species
LBSAA sequence# speciesSpecies
A101KSYWKALGISP3Homo sapiens, Rattus norvegicus, Pan troglodytes
A101KTFWRKLGLSP1Xenopus tropicalis
A101SSYWKGLGLSP1Gallus gallus
A101KSYWKTLGISP1Mus musculus
A101KSYWKSLGISP1Bos taurus
A128RHYTIAALLSP4Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus
A128RRYTIAALLSP2Homo sapiens, Pan troglodytes
A128RHYTIAVLLTP1Xenopus tropicalis
A129HYTIAALLSPY3Mus musculus, Rattus norvegicus, Bos taurus
A129RYTIAALLSPY2Homo sapiens, Pan troglodytes
A129HYTIAVLLTPY1Xenopus tropicalis
A129HYTIAALLSPF1Gallus gallus
A140SYSTTAVVSNP2Mus musculus, Rattus norvegicus
A140SYSTTAVVTNP1Homo sapiens
A140SISSTAVVSEP1Xenopus tropicalis
A140SYSTTAVVSDP1Gallus gallus
A140SYSTTALVSSP1Bos taurus
A140SYSTTAVVTIP1Pan troglodytes
A65TWEPFASGKTS3Homo sapiens, Bos taurus, Pan troglodytes
A65SWEPFASGKTA2Mus musculus, Rattus norvegicus
A65NWELISSGKTT1Xenopus tropicalis
A65TWQDFATGKTT1Gallus gallus
C30TGESKCPLMVK2Homo sapiens, Pan troglodytes
C30AGESKCPLMVK2Mus musculus, Rattus norvegicus
C30EADSKCPLMVK1Xenopus tropicalis
C30SVDSKCPLMVK1Gallus gallus
C30AGEPKCPLMVK1Bos taurus
D119VFTANDSGHRH3Gallus gallus, Mus musculus, Rattus norvegicus
D119VFTANDSGPRR2Homo sapiens, Pan troglodytes
D119VFSANDAGHRH1Xenopus tropicalis
D119VFTANDSGPRH1Bos taurus
D38MVKVLDAVRGS6Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus, Pan troglodytes
D38MVKVLDAVRGI1Xenopus tropicalis
D94YKVEIDTKSYW2Homo sapiens, Pan troglodytes
D94YRVELDTKSYW2Mus musculus, Rattus norvegicus
D94YKIEFATKTFW1Xenopus tropicalis
D94YRVEFDTSSYW1Gallus gallus
D94YKVELDTKSYW1Bos taurus
E112FHEHAEVVFTA2Homo sapiens, Pan troglodytes
E112FHEYVDVVFSA1Xenopus tropicalis
E112FHEYADVVFTA1Gallus gallus
E112FHEFADVVFTA1Mus musculus
E112FHEYAEVVFTA1Rattus norvegicus
E112FHEFAEVVFTA1Bos taurus
E19LVFVSEAGPT-2Homo sapiens, Pan troglodytes
E19LAIASEAAPGH1Xenopus tropicalis
E19LVFLSEAAPL-1Gallus gallus
E19LVFVSEAGPA-1Mus musculus
E19LIFASEAGPG-1Rattus norvegicus
E19LVFVSEAGSV-1Bos taurus
E74TSESGELHGLT3Homo sapiens, Bos taurus, Pan troglodytes
E74TAESGELHGLT2Mus musculus, Rattus norvegicus
E74TTELGEIHNII1Xenopus tropicalis
E74TTEFGEIHELT1Gallus gallus
E86EEEFVEGIYKV2Homo sapiens, Pan troglodytes
E86DEQFTEGVYKI1Xenopus tropicalis
E86EEQFVEGVYRV1Gallus gallus
E86DEKFVEGVYRV1Mus musculus
E86DEKFTEGVYRV1Rattus norvegicus
E86EDKFVEGLYKV1Bos taurus
E92GIYKVEIDTKS2Homo sapiens, Pan troglodytes
E92GVYRVELDTKS2Mus musculus, Rattus norvegicus
E92GVYKIEFATKT1Xenopus tropicalis
E92GVYRVEFDTSS1Gallus gallus
E92GLYKVELDTKS1Bos taurus
F107LGISPFHEHAE2Homo sapiens, Pan troglodytes
F107LGLSPFHEYVD1Xenopus tropicalis
F107LGLSPFHEYAD1Gallus gallus
F107LGISPFHEFAD1Mus musculus
F107LGISPFHEYAE1Rattus norvegicus
F107LGISPFHEFAE1Bos taurus
F53VAVHVFRKAAD1Homo sapiens
F53LLVQVFRNT-E1Xenopus tropicalis
F53VAVKVFKKAAD1Gallus gallus
F53VAVKVFKKTSE1Mus musculus
F53VAVKVFKKTAD1Rattus norvegicus
F53VGVKVFKKAAD1Bos taurus
F53VAVHVFKKAAD1Pan troglodytes
F64GSWEPFASGKT2Mus musculus, Rattus norvegicus
F64ETWEPFASGKT2Bos taurus, Pan troglodytes
F64DTWEPFASGKT1Homo sapiens
F64GNWELISSGKT1Xenopus tropicalis
F64GTWQDFATGKT1Gallus gallus
F84TTEEEFVEGIY2Homo sapiens, Pan troglodytes
F84ITDEQFTEGVY1Xenopus tropicalis
F84TTEEQFVEGVY1Gallus gallus
F84TTDEKFVEGVY1Mus musculus
F84TTDEKFTEGVY1Rattus norvegicus
F84TTEDKFVEGLY1Bos taurus
G121TANDSGHRHYT3Gallus gallus, Mus musculus, Rattus norvegicus
G121TANDSGPRRYT2Homo sapiens, Pan troglodytes
G121SANDAGHRHYT1Xenopus tropicalis
G121TANDSGPRHYT1Bos taurus
H108GISPFHEHAEV2Homo sapiens, Pan troglodytes
H108GLSPFHEYVDV1Xenopus tropicalis
H108GLSPFHEYADV1Gallus gallus
H108GISPFHEFADV1Mus musculus
H108GISPFHEYAEV1Rattus norvegicus
H108GISPFHEFAEV1Bos taurus
H110SPFHEHAEVVF2Homo sapiens, Pan troglodytes
H110SPFHEYVDVVF1Xenopus tropicalis
H110SPFHEYADVVF1Gallus gallus
H110SPFHEFADVVF1Mus musculus
H110SPFHEYAEVVF1Rattus norvegicus
H110SPFHEFAEVVF1Bos taurus
H51VDVAVKVFKKT2Mus musculus, Rattus norvegicus
H51INVAVHVFRKA1Homo sapiens
H51ANLLVQVFRNT1Xenopus tropicalis
H51ANVAVKVFKKA1Gallus gallus
H51ANVGVKVFKKA1Bos taurus
H51INVAVHVFKKA1Pan troglodytes
H76ESGELHGLTTE3Homo sapiens, Bos taurus, Pan troglodytes
H76ESGELHGLTTD2Mus musculus, Rattus norvegicus
H76ELGEIHNIITD1Xenopus tropicalis
H76EFGEIHELTTE1Gallus gallus
I104WKALGISPFHE3Homo sapiens, Rattus norvegicus, Pan troglodytes
I104WRKLGLSPFHE1Xenopus tropicalis
I104WKGLGLSPFHE1Gallus gallus
I104WKTLGISPFHE1Mus musculus
I104WKSLGISPFHE1Bos taurus
I88EFVEGIYKVEI2Homo sapiens, Pan troglodytes
I88QFTEGVYKIEF1Xenopus tropicalis
I88QFVEGVYRVEF1Gallus gallus
I88KFVEGVYRVEL1Mus musculus
I88KFTEGVYRVEL1Rattus norvegicus
I88KFVEGLYKVEL1Bos taurus
K35CPLMVKVLDAV7Homo sapiens, Xenopus tropicalis, Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus, Pan troglodytes
K55VHVFRKAADDT1Homo sapiens
K55VQVFRNT-EGN1Xenopus tropicalis
K55VKVFKKAADGT1Gallus gallus
K55VKVFKKTSEGS1Mus musculus
K55VKVFKKTADGS1Rattus norvegicus
K55VKVFKKAADET1Bos taurus
K55VHVFKKAADET1Pan troglodytes
L102SYWKALGISPF3Homo sapiens, Rattus norvegicus, Pan troglodytes
L102TFWRKLGLSPF1Xenopus tropicalis
L102SYWKGLGLSPF1Gallus gallus
L102SYWKTLGISPF1Mus musculus
L102SYWKSLGISPF1Bos taurus
L130YTIAALLSPYS5Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus, Pan troglodytes
L130YTIAVLLTPYS1Xenopus tropicalis
L130YTIAALLSPFS1Gallus gallus
L37LMVKVLDAVRG7Homo sapiens, Xenopus tropicalis, Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus, Pan troglodytes
M33SKCPLMVKVLD6Homo sapiens, Xenopus tropicalis, Gallus gallus, Mus musculus, Rattus norvegicus, Pan troglodytes
M33PKCPLMVKVLD1Bos taurus
N118VVFTANDSGPR3Homo sapiens, Bos taurus, Pan troglodytes
N118VVFTANDSGHR3Gallus gallus, Mus musculus, Rattus norvegicus
N118VVFSANDAGHR1Xenopus tropicalis
N47GSPAINVAVHV2Homo sapiens, Pan troglodytes
N47GSPAVDVAVKV2Mus musculus, Rattus norvegicus
N47GIPAANLLVQV1Xenopus tropicalis
N47GSPAANVAVKV1Gallus gallus
N47GSPAANVGVKV1Bos taurus
P106ALGISPFHEHA2Homo sapiens, Pan troglodytes
P106KLGLSPFHEYV1Xenopus tropicalis
P106GLGLSPFHEYA1Gallus gallus
P106TLGISPFHEFA1Mus musculus
P106ALGISPFHEYA1Rattus norvegicus
P106SLGISPFHEFA1Bos taurus
P122ANDSGHRHYTI3Gallus gallus, Mus musculus, Rattus norvegicus
P122ANDSGPRRYTI2Homo sapiens, Pan troglodytes
P122ANDAGHRHYTI1Xenopus tropicalis
P122ANDSGPRHYTI1Bos taurus
P44AVRGSPAINVA2Homo sapiens, Pan troglodytes
P44AVRGSPAVDVA2Mus musculus, Rattus norvegicus
P44AVRGIPAANLL1Xenopus tropicalis
P44AVRGSPAANVA1Gallus gallus
P44AVRGSPAANVG1Bos taurus
P63DETWEPFASGK2Bos taurus, Pan troglodytes
P63DDTWEPFASGK1Homo sapiens
P63EGNWELISSGK1Xenopus tropicalis
P63DGTWQDFATGK1Gallus gallus
P63EGSWEPFASGK1Mus musculus
P63DGSWEPFASGK1Rattus norvegicus
R124DSGHRHYTIAA3Gallus gallus, Mus musculus, Rattus norvegicus
R124DSGPRRYTIAA2Homo sapiens, Pan troglodytes
R124DAGHRHYTIAV1Xenopus tropicalis
R124DSGPRHYTIAA1Bos taurus
R41VLDAVRGSPAI2Homo sapiens, Pan troglodytes
R41VLDAVRGSPAA2Gallus gallus, Bos taurus
R41VLDAVRGSPAV2Mus musculus, Rattus norvegicus
R41VLDAVRGIPAA1Xenopus tropicalis
S105KALGISPFHEH2Homo sapiens, Pan troglodytes
S105RKLGLSPFHEY1Xenopus tropicalis
S105KGLGLSPFHEY1Gallus gallus
S105KTLGISPFHEF1Mus musculus
S105KALGISPFHEY1Rattus norvegicus
S105KSLGISPFHEF1Bos taurus
S120FTANDSGHRHY3Gallus gallus, Mus musculus, Rattus norvegicus
S120FTANDSGPRRY2Homo sapiens, Pan troglodytes
S120FSANDAGHRHY1Xenopus tropicalis
S120FTANDSGPRHY1Bos taurus
S135LLSPYSYSTTA5Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus, Pan troglodytes
S135LLTPYSISSTA1Xenopus tropicalis
S135LLSPFSYSTTA1Gallus gallus
S137SPYSYSTTAVV4Homo sapiens, Mus musculus, Rattus norvegicus, Pan troglodytes
S137TPYSISSTAVV1Xenopus tropicalis
S137SPFSYSTTAVV1Gallus gallus
S137SPYSYSTTALV1Bos taurus
S66WEPFASGKTSE3Homo sapiens, Bos taurus, Pan troglodytes
S66WEPFASGKTAE2Mus musculus, Rattus norvegicus
S66WELISSGKTTE1Xenopus tropicalis
S66WQDFATGKTTE1Gallus gallus
S72GKTSESGELHG3Homo sapiens, Bos taurus, Pan troglodytes
S72GKTAESGELHG2Mus musculus, Rattus norvegicus
S72GKTTELGEIHN1Xenopus tropicalis
S72GKTTEFGEIHE1Gallus gallus
T126GHRHYTIAALL3Gallus gallus, Mus musculus, Rattus norvegicus
T126GPRRYTIAALL2Homo sapiens, Pan troglodytes
T126GHRHYTIAVLL1Xenopus tropicalis
T126GPRHYTIAALL1Bos taurus
T138PYSYSTTAVVT2Homo sapiens, Pan troglodytes
T138PYSYSTTAVVS2Mus musculus, Rattus norvegicus
T138PYSISSTAVVS1Xenopus tropicalis
T138PFSYSTTAVVS1Gallus gallus
T138PYSYSTTALVS1Bos taurus
T139YSYSTTAVVSN2Mus musculus, Rattus norvegicus
T139YSYSTTAVVTN1Homo sapiens
T139YSISSTAVVSE1Xenopus tropicalis
T139FSYSTTAVVSD1Gallus gallus
T139YSYSTTALVSS1Bos taurus
T139YSYSTTAVVTI1Pan troglodytes
V114EHAEVVFTAND2Homo sapiens, Pan troglodytes
V114EYVDVVFSAND1Xenopus tropicalis
V114EYADVVFTAND1Gallus gallus
V114EFADVVFTAND1Mus musculus
V114EYAEVVFTAND1Rattus norvegicus
V114EFAEVVFTAND1Bos taurus
V141YSTTAVVSNPQ2Mus musculus, Rattus norvegicus
V141YSTTAVVTNPK1Homo sapiens
V141ISSTAVVSEPH1Xenopus tropicalis
V141YSTTAVVSDPQ1Gallus gallus
V141YSTTALVSSPK1Bos taurus
V141YSTTAVVTIPK1Pan troglodytes
V142STTAVVSNPQN2Mus musculus, Rattus norvegicus
V142STTAVVTNPKE1Homo sapiens
V142SSTAVVSEPHD1Xenopus tropicalis
V142STTAVVSDPQE1Gallus gallus
V142STTALVSSPKA1Bos taurus
V142STTAVVTIPKE1Pan troglodytes
V36PLMVKVLDAVR7Homo sapiens, Xenopus tropicalis, Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus, Pan troglodytes
V40KVLDAVRGSPA6Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus, Pan troglodytes
V40KVLDAVRGIPA1Xenopus tropicalis
V52NVAVHVFRKAA1Homo sapiens
V52NLLVQVFRNT-1Xenopus tropicalis
V52NVAVKVFKKAA1Gallus gallus
V52DVAVKVFKKTS1Mus musculus
V52DVAVKVFKKTA1Rattus norvegicus
V52NVGVKVFKKAA1Bos taurus
V52NVAVHVFKKAA1Pan troglodytes
V85TEEEFVEGIYK2Homo sapiens, Pan troglodytes
V85TDEQFTEGVYK1Xenopus tropicalis
V85TEEQFVEGVYR1Gallus gallus
V85TDEKFVEGVYR1Mus musculus
V85TDEKFTEGVYR1Rattus norvegicus
V85TEDKFVEGLYK1Bos taurus
W61AADETWEPFAS2Bos taurus, Pan troglodytes
W61AADDTWEPFAS1Homo sapiens
W61T-EGNWELISS1Xenopus tropicalis
W61AADGTWQDFAT1Gallus gallus
W61TSEGSWEPFAS1Mus musculus
W61TADGSWEPFAS1Rattus norvegicus
W99DTKSYWKALGI3Homo sapiens, Rattus norvegicus, Pan troglodytes
W99ATKTFWRKLGL1Xenopus tropicalis
W99DTSSYWKGLGL1Gallus gallus
W99DTKSYWKTLGI1Mus musculus
W99DTKSYWKSLGI1Bos taurus
Y98IDTKSYWKALG2Homo sapiens, Pan troglodytes
Y98FATKTFWRKLG1Xenopus tropicalis
Y98FDTSSYWKGLG1Gallus gallus
Y98LDTKSYWKTLG1Mus musculus
Y98LDTKSYWKALG1Rattus norvegicus
Y98LDTKSYWKSLG1Bos taurus


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