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UniProtKB - P02766 (TTHY_HUMAN)

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Protein

Transthyretin

Gene

TTR

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.1 Publication

Miscellaneous

Tetramer dissociation and partial unfolding leads to the formation of aggregates and amyloid fibrils. Small molecules that occupy at least one of the thyroid hormone binding sites stabilize the tetramer, and thereby stabilize the native state and protect against misfolding and the formation of amyloid fibrils.
Two binding sites for thyroxine are located in the channel. Less than 1% of plasma prealbumin molecules are normally involved in thyroxine transport. L-thyroxine binds to the transthyretin by an order of magnitude stronger than does the triiodo-L-thyronine. Thyroxine-binding globulin is the major carrier protein for thyroid hormones in man.
About 40% of plasma transthyretin circulates in a tight protein-protein complex with the plasma retinol-binding protein (RBP). The formation of the complex with RBP stabilizes the binding of retinol to RBP and decreases the glomerular filtration and renal catabolism of the relatively small RBP molecule. There is evidence for 2 binding sites for RBP, one possibly being a region that includes Ile-104, located on the outer surface of the transthyretin molecule.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei35Thyroid hormones1
Binding sitei74Thyroid hormones1

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionHormone, Thyroid hormone
Biological processTransport

Enzyme and pathway databases

ReactomeiR-HSA-2453864 Retinoid cycle disease events
R-HSA-2453902 The canonical retinoid cycle in rods (twilight vision)
R-HSA-3000171 Non-integrin membrane-ECM interactions
R-HSA-6798695 Neutrophil degranulation
R-HSA-975634 Retinoid metabolism and transport
R-HSA-977225 Amyloid fiber formation

Names & Taxonomyi

Protein namesi
Recommended name:
Transthyretin
Alternative name(s):
ATTR
Prealbumin
TBPA
Gene namesi
Name:TTR
Synonyms:PALB
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 18

Organism-specific databases

EuPathDBiHostDB:ENSG00000118271.9
HGNCiHGNC:12405 TTR
MIMi176300 gene
neXtProtiNX_P02766

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Amyloid, Cytoplasm, Secreted

Pathology & Biotechi

Involvement in diseasei

Amyloidosis, transthyretin-related (AMYL-TTR)73 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA hereditary generalized amyloidosis due to transthyretin amyloid deposition. Protein fibrils can form in different tissues leading to amyloid polyneuropathies, amyloidotic cardiomyopathy, carpal tunnel syndrome, systemic senile amyloidosis. The disease includes leptomeningeal amyloidosis that is characterized by primary involvement of the central nervous system. Neuropathologic examination shows amyloid in the walls of leptomeningeal vessels, in pia arachnoid, and subpial deposits. Some patients also develop vitreous amyloid deposition that leads to visual impairment (oculoleptomeningeal amyloidosis). Clinical features include seizures, stroke-like episodes, dementia, psychomotor deterioration, variable amyloid deposition in the vitreous humor.
See also OMIM:105210
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00754730C → R in AMYL-TTR; amyloid polyneuropathy. 1 PublicationCorresponds to variant dbSNP:rs121918083EnsemblClinVar.1
Natural variantiVAR_03895932L → P in AMYL-TTR. 2 PublicationsCorresponds to variant dbSNP:rs121918094EnsemblClinVar.1
Natural variantiVAR_00754838D → E in AMYL-TTR; amyloid polyneuropathy. 1
Natural variantiVAR_00754938D → G in AMYL-TTR; leptomeningeal amyloidosis; leads to unfolding and exposure of N-118 to glycosylation by STT3B and subsequent degradation by the ERAD pathway. 2 PublicationsCorresponds to variant dbSNP:rs121918098EnsemblClinVar.1
Natural variantiVAR_00755040V → I in AMYL-TTR; late-onset amyloid polyneuropathy with carpal tunnel syndrome. 2 PublicationsCorresponds to variant dbSNP:rs121918093EnsemblClinVar.1
Natural variantiVAR_03896143S → N in AMYL-TTR. 1 Publication1
Natural variantiVAR_00755144P → S in AMYL-TTR; amyloid polyneuropathy. 1 PublicationCorresponds to variant dbSNP:rs11541790EnsemblClinVar.1
Natural variantiVAR_01065848V → M in AMYL-TTR; amyloid polyneuropathy. 1 Publication1
Natural variantiVAR_00755250V → A in AMYL-TTR; amyloid polyneuropathy. 2 PublicationsCorresponds to variant dbSNP:rs79977247EnsemblClinVar.1
Natural variantiVAR_03896250V → G in AMYL-TTR. 1 PublicationCorresponds to variant dbSNP:rs79977247EnsemblClinVar.1
Natural variantiVAR_00755350V → L in AMYL-TTR; amyloid polyneuropathy. 2 PublicationsCorresponds to variant dbSNP:rs28933979EnsemblClinVar.1
Natural variantiVAR_00755450V → M in AMYL-TTR; amyloid polyneuropathy; by far the most frequent mutation. 10 PublicationsCorresponds to variant dbSNP:rs28933979EnsemblClinVar.1
Natural variantiVAR_00755553F → I in AMYL-TTR; Jewish 'SKO' amyloid polyneuropathy. 2 PublicationsCorresponds to variant dbSNP:rs121918068EnsemblClinVar.1
Natural variantiVAR_00755653F → L in AMYL-TTR; amyloid polyneuropathy. 4 PublicationsCorresponds to variant dbSNP:rs121918068EnsemblClinVar.1
Natural variantiVAR_03896453F → V in AMYL-TTR; amyloid polyneuropathy. 4 Publications1
Natural variantiVAR_03896554R → T in AMYL-TTR. 1 Publication1
Natural variantiVAR_03896655K → N in AMYL-TTR; amyloid polyneuropathy. 1 Publication1
Natural variantiVAR_00755756A → P in AMYL-TTR; amyloid polyneuropathy. 1 PublicationCorresponds to variant dbSNP:rs121918077EnsemblClinVar.1
Natural variantiVAR_03896758D → A in AMYL-TTR. 2 Publications1
Natural variantiVAR_03896858D → V in AMYL-TTR. 2 Publications1
Natural variantiVAR_03896961W → L in AMYL-TTR. 1 Publication1
Natural variantiVAR_03897062E → D in AMYL-TTR. 1 PublicationCorresponds to variant dbSNP:rs11541796EnsemblClinVar.1
Natural variantiVAR_00755862E → G in AMYL-TTR; amyloid polyneuropathy. 2 PublicationsCorresponds to variant dbSNP:rs11541796EnsemblClinVar.1
Natural variantiVAR_03897164F → S in AMYL-TTR. 2 PublicationsCorresponds to variant dbSNP:rs104894665EnsemblClinVar.1
Natural variantiVAR_00755965A → D in AMYL-TTR; amyloid cardiomyopathy. Corresponds to variant dbSNP:rs730881169EnsemblClinVar.1
Natural variantiVAR_03897265A → S in AMYL-TTR. 1 Publication1
Natural variantiVAR_00756065A → T in AMYL-TTR; amyloid cardiomyopathy. 2 PublicationsCorresponds to variant dbSNP:rs121918078Ensembl.1
Natural variantiVAR_00756167G → A in AMYL-TTR; amyloid polyneuropathy. 2 PublicationsCorresponds to variant dbSNP:rs121918090EnsemblClinVar.1
Natural variantiVAR_03897367G → E in AMYL-TTR. 2 Publications1
Natural variantiVAR_00756267G → R in AMYL-TTR; amyloid polyneuropathy. 1 PublicationCorresponds to variant dbSNP:rs387906523EnsemblClinVar.1
Natural variantiVAR_00756367G → V in AMYL-TTR; amyloid polyneuropathy with carpal tunnel syndrome. 1
Natural variantiVAR_00756469T → A in AMYL-TTR; amyloid polyneuropathy. 3 PublicationsCorresponds to variant dbSNP:rs121918081EnsemblClinVar.1
Natural variantiVAR_03897469T → I in AMYL-TTR. 2 Publications1
Natural variantiVAR_00756570S → I in AMYL-TTR; amyloid cardiomyopathy. 1 PublicationCorresponds to variant dbSNP:rs121918080EnsemblClinVar.1
Natural variantiVAR_00756670S → R in AMYL-TTR; amyloid polyneuropathy. 4 PublicationsCorresponds to variant dbSNP:rs386134269EnsemblClinVar.1
Natural variantiVAR_00756772S → P in AMYL-TTR; amyloid polyneuropathy. 1
Natural variantiVAR_03897573G → E in AMYL-TTR. 1 PublicationCorresponds to variant dbSNP:rs121918097EnsemblClinVar.1
Natural variantiVAR_00756874E → G in AMYL-TTR; amyloid polyneuropathy. 1
Natural variantiVAR_03897674E → K in AMYL-TTR; early-onset amyloid polyneuropathy. 1 Publication1
Natural variantiVAR_00756975L → P in AMYL-TTR; amyloid polyneuropathy. 4 PublicationsCorresponds to variant dbSNP:rs121918079EnsemblClinVar.1
Natural variantiVAR_03897775L → Q in AMYL-TTR. 1 Publication1
Natural variantiVAR_00757078L → H in AMYL-TTR; amyloid polyneuropathy. 1 PublicationCorresponds to variant dbSNP:rs121918069EnsemblClinVar.1
Natural variantiVAR_00757178L → R in AMYL-TTR; amyloid polyneuropathy. 1 PublicationCorresponds to variant dbSNP:rs121918069EnsemblClinVar.1
Natural variantiVAR_00757279T → K in AMYL-TTR; amyloid cardiomyopathy. 1 PublicationCorresponds to variant dbSNP:rs730881163EnsemblClinVar.1
Natural variantiVAR_00757380T → A in AMYL-TTR; amyloid polyneuropathy and cardiomyopathy. 4 PublicationsCorresponds to variant dbSNP:rs121918070EnsemblClinVar.1
Natural variantiVAR_03897881E → G in AMYL-TTR. 1 Publication1
Natural variantiVAR_00757481E → K in AMYL-TTR; amyloid polyneuropathy. 1 PublicationCorresponds to variant dbSNP:rs121918086EnsemblClinVar.1
Natural variantiVAR_00757584F → L in AMYL-TTR; amyloid polyneuropathy. 3 PublicationsCorresponds to variant dbSNP:rs121918091EnsemblClinVar.1
Natural variantiVAR_00757688I → L in AMYL-TTR; amyloid cardiomyopathy. 2 PublicationsCorresponds to variant dbSNP:rs121918085EnsemblClinVar.1
Natural variantiVAR_00757789Y → H in AMYL-TTR; leptomeningeal amyloidosis; vitreous amyloid in some patients. 1 PublicationCorresponds to variant dbSNP:rs121918100EnsemblClinVar.1
Natural variantiVAR_00757890K → N in AMYL-TTR; amyloid polyneuropathy. 1 PublicationCorresponds to variant dbSNP:rs267607160EnsemblClinVar.1
Natural variantiVAR_00757991V → A in AMYL-TTR; amyloid polyneuropathy. 3 PublicationsCorresponds to variant dbSNP:rs121918084EnsemblClinVar.1
Natural variantiVAR_00758093I → V in AMYL-TTR; amyloid polyneuropathy. 1 Publication1
Natural variantiVAR_00758297S → Y in AMYL-TTR; amyloid polyneuropathy. 4 PublicationsCorresponds to variant dbSNP:rs121918071EnsemblClinVar.1
Natural variantiVAR_03897998Y → F in AMYL-TTR. 2 PublicationsCorresponds to variant dbSNP:rs958191819Ensembl.1
Natural variantiVAR_007583104I → N in AMYL-TTR; vitrous amyloid. 1 Publication1
Natural variantiVAR_007584104I → S in AMYL-TTR; amyloid polyneuropathy; almost no RBP binding. 3 PublicationsCorresponds to variant dbSNP:rs121918072EnsemblClinVar.1
Natural variantiVAR_038980104I → T in AMYL-TTR. 1 Publication1
Natural variantiVAR_010659109E → K in AMYL-TTR; amyloid polyneuropathy. 1 Publication1
Natural variantiVAR_007585109E → Q in AMYL-TTR; amyloid polyneuropathy and cardiomyopathy. 2 PublicationsCorresponds to variant dbSNP:rs121918082EnsemblClinVar.1
Natural variantiVAR_007587111A → S in AMYL-TTR; amyloid polyneuropathy. 1 Publication1
Natural variantiVAR_007588117A → G in AMYL-TTR; amyloid polyneuropathy. 3 PublicationsCorresponds to variant dbSNP:rs121918087EnsemblClinVar.1
Natural variantiVAR_038982117A → S in AMYL-TTR. 1 PublicationCorresponds to variant dbSNP:rs267607161EnsemblClinVar.1
Natural variantiVAR_038984126T → N in AMYL-TTR. 1 Publication1
Natural variantiVAR_038985127I → M in AMYL-TTR. 1 Publication1
Natural variantiVAR_007592127I → V in AMYL-TTR; amyloid polyneuropathy. 3 PublicationsCorresponds to variant dbSNP:rs121918089EnsemblClinVar.1
Natural variantiVAR_007594131L → M in AMYL-TTR. 1 PublicationCorresponds to variant dbSNP:rs121918073EnsemblClinVar.1
Natural variantiVAR_007595134Y → C in AMYL-TTR; amyloid polyneuropathy. 3 PublicationsCorresponds to variant dbSNP:rs121918075EnsemblClinVar.1
Natural variantiVAR_007596136Y → S in AMYL-TTR; amyloid polyneuropathy. 1 PublicationCorresponds to variant dbSNP:rs730881167EnsemblClinVar.1
Natural variantiVAR_038986140A → S in AMYL-TTR. 1 PublicationCorresponds to variant dbSNP:rs876658108EnsemblClinVar.1
Natural variantiVAR_038987142V → A in AMYL-TTR. 1 Publication1
Natural variantiVAR_007600142V → I in AMYL-TTR. 3 PublicationsCorresponds to variant dbSNP:rs76992529EnsemblClinVar.1
Natural variantiVAR_038988144N → S in AMYL-TTR. 1 PublicationCorresponds to variant dbSNP:rs144965179Ensembl.1
Hyperthyroxinemia, dystransthyretinemic (DTTRH)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA condition characterized by elevation of total and free thyroxine in healthy, euthyroid persons without detectable binding protein abnormalities.
See also OMIM:145680
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_007593129A → T in DTTRH; increased affinity for thyroxine. 2 PublicationsCorresponds to variant dbSNP:rs267607159EnsemblClinVar.1
Carpal tunnel syndrome 1 (CTS1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA condition characterized by entrapment of the median nerve within the carpal tunnel. Symptoms include burning pain and paresthesias involving the ventral surface of the hand and fingers which may radiate proximally. Impairment of sensation in the distribution of the median nerve and thenar muscle atrophy may occur. This condition may be associated with repetitive occupational trauma, wrist injuries, amyloid neuropathies, rheumatoid arthritis.
See also OMIM:115430
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_007598134Y → H in CTS1; amyloid deposit on carpal tunnel; patients show no other abnormalities. 1 PublicationCorresponds to variant dbSNP:rs121918088EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi107F → M: Loss of tetramerization; when associated with M-130. 1 Publication1
Mutagenesisi130L → M: Loss of tetramerization; when associated with M-107. 1 Publication1

Keywords - Diseasei

Amyloidosis, Disease mutation, Neuropathy

Organism-specific databases

DisGeNETi7276
GeneReviewsiTTR
MalaCardsiTTR
MIMi105210 phenotype
115430 phenotype
145680 phenotype
OpenTargetsiENSG00000118271
Orphaneti85447 Familial amyloid polyneuropathy
85451 Transthyretin-related familial amyloid cardiomyopathy
PharmGKBiPA37069

Chemistry databases

ChEMBLiCHEMBL3194
DrugBankiDB07201 (2S)-3-[(9H-fluoren-9-ylideneamino)oxy]-2-methylpropanoic acid
DB04474 1-Anilino-8-Naphthalene Sulfonate
DB07282 3-({[(1Z)-(2-methoxyphenyl)methylidene]amino}oxy)propanoic acid
DB07240 3-[(9H-fluoren-9-ylideneamino)oxy]propanoic acid
DB06885 3-[({(1E)-[2-(trifluoromethyl)phenyl]methylidene}amino)oxy]propanoic acid
DB07176 5-aminonaphthalene-1-sulfonic acid
DB00586 Diclofenac
DB00255 Diethylstilbestrol
DB00861 Diflunisal
DB01093 Dimethyl sulfoxide
DB02266 Flufenamic Acid
DB05352 Fx-1006A
DB01645 Genistein
DB00451 Levothyroxine
DB00279 Liothyronine
DB01583 Liotrix
DB05235 NRP409
DB02179 O-Trifluoromethylphenyl Anthranilic Acid
DB03167 Pentabromophenol
DB02709 Resveratrol
GuidetoPHARMACOLOGYi2851

Polymorphism and mutation databases

BioMutaiTTR
DMDMi136464

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 206 PublicationsAdd BLAST20
ChainiPRO_000003575521 – 147TransthyretinAdd BLAST127

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei624-carboxyglutamate; in a patient with Moyamoya disease1 Publication1
Modified residuei72PhosphoserineBy similarity1
Glycosylationi118N-linked (GlcNAc...) asparagine2 Publications1

Post-translational modificationi

Not glycosylated under normal conditions. Following unfolding, caused for example by variant AMYL-TTR 'Gly-38', the cryptic Asn-118 site is exposed and glycosylated by STT3B-containing OST complex, leading to its degradation by the ER-associated degradation (ERAD) pathway.3 Publications

Keywords - PTMi

Gamma-carboxyglutamic acid, Glycoprotein, Phosphoprotein

Proteomic databases

EPDiP02766
MaxQBiP02766
PaxDbiP02766
PeptideAtlasiP02766
PRIDEiP02766
ProteomicsDBi51586
TopDownProteomicsiP02766

2D gel databases

DOSAC-COBS-2DPAGEiP02766
REPRODUCTION-2DPAGEiP02766
SWISS-2DPAGEiP02766
UCD-2DPAGEiP02766

PTM databases

CarbonylDBiP02766
iPTMnetiP02766
PhosphoSitePlusiP02766

Miscellaneous databases

PMAP-CutDBiP02766

Expressioni

Tissue specificityi

Detected in serum and cerebrospinal fluid (at protein level). Highly expressed in choroid plexus epithelial cells. Detected in retina pigment epithelium and liver.2 Publications

Gene expression databases

BgeeiENSG00000118271
CleanExiHS_TTR
ExpressionAtlasiP02766 baseline and differential
GenevisibleiP02766 HS

Organism-specific databases

HPAiCAB002517
CAB062567
CAB073406
HPA002550

Interactioni

Subunit structurei

Homotetramer. Dimer of dimers. In the homotetramer, subunits assemble around a central channel that can accommodate two ligand molecules. Interacts with RBP4.13 Publications

Binary interactionsi

Show more details

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi113127, 55 interactors
CORUMiP02766
DIPiDIP-1083N
IntActiP02766, 49 interactors
MINTiP02766
STRINGi9606.ENSP00000237014

Chemistry databases

BindingDBiP02766

Structurei

Secondary structure

1147
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Turni23 – 26Combined sources4
Beta strandi32 – 38Combined sources7
Turni39 – 42Combined sources4
Beta strandi49 – 55Combined sources7
Beta strandi57 – 59Combined sources3
Beta strandi61 – 68Combined sources8
Beta strandi73 – 75Combined sources3
Beta strandi77 – 80Combined sources4
Turni81 – 83Combined sources3
Beta strandi86 – 93Combined sources8
Helixi95 – 101Combined sources7
Beta strandi107 – 118Combined sources12
Beta strandi120 – 122Combined sources3
Beta strandi124 – 132Combined sources9
Beta strandi135 – 143Combined sources9

3D structure databases

ProteinModelPortaliP02766
SMRiP02766
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP02766

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni135 – 139Thyroid hormone binding5

Domaini

Each monomer has two 4-stranded beta sheets and the shape of a prolate ellipsoid. Antiparallel beta-sheet interactions link monomers into dimers. A short loop from each monomer forms the main dimer-dimer interaction. These two pairs of loops separate the opposed, convex beta-sheets of the dimers to form an internal channel.

Sequence similaritiesi

Belongs to the transthyretin family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiKOG3006 Eukaryota
COG2351 LUCA
GeneTreeiENSGT00390000005321
HOGENOMiHOG000251776
HOVERGENiHBG000285
InParanoidiP02766
KOiK20731
PhylomeDBiP02766
TreeFamiTF300210

Family and domain databases

Gene3Di2.60.40.180, 1 hit
InterProiView protein in InterPro
IPR023418 Thyroxine_BS
IPR030178 Transthyretin
IPR000895 Transthyretin/HIU_hydrolase
IPR023416 Transthyretin/HIU_hydrolase_d
IPR036817 Transthyretin/HIU_hydrolase_sf
IPR023419 Transthyretin_CS
PANTHERiPTHR10395 PTHR10395, 1 hit
PTHR10395:SF12 PTHR10395:SF12, 1 hit
PfamiView protein in Pfam
PF00576 Transthyretin, 1 hit
PRINTSiPR00189 TRNSTHYRETIN
SMARTiView protein in SMART
SM00095 TR_THY, 1 hit
SUPFAMiSSF49472 SSF49472, 1 hit
PROSITEiView protein in PROSITE
PS00768 TRANSTHYRETIN_1, 1 hit
PS00769 TRANSTHYRETIN_2, 1 hit

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

P02766-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MASHRLLLLC LAGLVFVSEA GPTGTGESKC PLMVKVLDAV RGSPAINVAV 
        60         70         80         90        100
HVFRKAADDT WEPFASGKTS ESGELHGLTT EEEFVEGIYK VEIDTKSYWK 
       110        120        130        140 
ALGISPFHEH AEVVFTANDS GPRRYTIAAL LSPYSYSTTA VVTNPKE
Length:147
Mass (Da):15,887
Last modified:March 20, 1987 - v1
Checksum:i3A6AEBCBBA56BC44
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti41R → P in AAA98771 (PubMed:4054629).Curated1
Sequence conflicti147E → D in CAG33189 (Ref. 12) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00754626G → S Common polymorphism. 5 PublicationsCorresponds to variant dbSNP:rs1800458EnsemblClinVar.1
Natural variantiVAR_00754730C → R in AMYL-TTR; amyloid polyneuropathy. 1 PublicationCorresponds to variant dbSNP:rs121918083EnsemblClinVar.1
Natural variantiVAR_03895932L → P in AMYL-TTR. 2 PublicationsCorresponds to variant dbSNP:rs121918094EnsemblClinVar.1
Natural variantiVAR_03896033M → I1 Publication1
Natural variantiVAR_00754838D → E in AMYL-TTR; amyloid polyneuropathy. 1
Natural variantiVAR_00754938D → G in AMYL-TTR; leptomeningeal amyloidosis; leads to unfolding and exposure of N-118 to glycosylation by STT3B and subsequent degradation by the ERAD pathway. 2 PublicationsCorresponds to variant dbSNP:rs121918098EnsemblClinVar.1
Natural variantiVAR_00755040V → I in AMYL-TTR; late-onset amyloid polyneuropathy with carpal tunnel syndrome. 2 PublicationsCorresponds to variant dbSNP:rs121918093EnsemblClinVar.1
Natural variantiVAR_03896143S → N in AMYL-TTR. 1 Publication1
Natural variantiVAR_00755144P → S in AMYL-TTR; amyloid polyneuropathy. 1 PublicationCorresponds to variant dbSNP:rs11541790EnsemblClinVar.1
Natural variantiVAR_01065848V → M in AMYL-TTR; amyloid polyneuropathy. 1 Publication1
Natural variantiVAR_00755250V → A in AMYL-TTR; amyloid polyneuropathy. 2 PublicationsCorresponds to variant dbSNP:rs79977247EnsemblClinVar.1
Natural variantiVAR_03896250V → G in AMYL-TTR. 1 PublicationCorresponds to variant dbSNP:rs79977247EnsemblClinVar.1
Natural variantiVAR_00755350V → L in AMYL-TTR; amyloid polyneuropathy. 2 PublicationsCorresponds to variant dbSNP:rs28933979EnsemblClinVar.1
Natural variantiVAR_00755450V → M in AMYL-TTR; amyloid polyneuropathy; by far the most frequent mutation. 10 PublicationsCorresponds to variant dbSNP:rs28933979EnsemblClinVar.1
Natural variantiVAR_03896353F → C in a patient with amyloidosis. 2 Publications1
Natural variantiVAR_00755553F → I in AMYL-TTR; Jewish 'SKO' amyloid polyneuropathy. 2 PublicationsCorresponds to variant dbSNP:rs121918068EnsemblClinVar.1
Natural variantiVAR_00755653F → L in AMYL-TTR; amyloid polyneuropathy. 4 PublicationsCorresponds to variant dbSNP:rs121918068EnsemblClinVar.1
Natural variantiVAR_03896453F → V in AMYL-TTR; amyloid polyneuropathy. 4 Publications1
Natural variantiVAR_03896554R → T in AMYL-TTR. 1 Publication1
Natural variantiVAR_03896655K → N in AMYL-TTR; amyloid polyneuropathy. 1 Publication1
Natural variantiVAR_00755756A → P in AMYL-TTR; amyloid polyneuropathy. 1 PublicationCorresponds to variant dbSNP:rs121918077EnsemblClinVar.1
Natural variantiVAR_03896758D → A in AMYL-TTR. 2 Publications1
Natural variantiVAR_03896858D → V in AMYL-TTR. 2 Publications1
Natural variantiVAR_03896961W → L in AMYL-TTR. 1 Publication1
Natural variantiVAR_03897062E → D in AMYL-TTR. 1 PublicationCorresponds to variant dbSNP:rs11541796EnsemblClinVar.1
Natural variantiVAR_00755862E → G in AMYL-TTR; amyloid polyneuropathy. 2 PublicationsCorresponds to variant dbSNP:rs11541796EnsemblClinVar.1
Natural variantiVAR_03897164F → S in AMYL-TTR. 2 PublicationsCorresponds to variant dbSNP:rs104894665EnsemblClinVar.1
Natural variantiVAR_00755965A → D in AMYL-TTR; amyloid cardiomyopathy. Corresponds to variant dbSNP:rs730881169EnsemblClinVar.1
Natural variantiVAR_03897265A → S in AMYL-TTR. 1 Publication1
Natural variantiVAR_00756065A → T in AMYL-TTR; amyloid cardiomyopathy. 2 PublicationsCorresponds to variant dbSNP:rs121918078Ensembl.1
Natural variantiVAR_00756167G → A in AMYL-TTR; amyloid polyneuropathy. 2 PublicationsCorresponds to variant dbSNP:rs121918090EnsemblClinVar.1
Natural variantiVAR_03897367G → E in AMYL-TTR. 2 Publications1
Natural variantiVAR_00756267G → R in AMYL-TTR; amyloid polyneuropathy. 1 PublicationCorresponds to variant dbSNP:rs387906523EnsemblClinVar.1
Natural variantiVAR_00756367G → V in AMYL-TTR; amyloid polyneuropathy with carpal tunnel syndrome. 1
Natural variantiVAR_00756469T → A in AMYL-TTR; amyloid polyneuropathy. 3 PublicationsCorresponds to variant dbSNP:rs121918081EnsemblClinVar.1
Natural variantiVAR_03897469T → I in AMYL-TTR. 2 Publications1
Natural variantiVAR_00756570S → I in AMYL-TTR; amyloid cardiomyopathy. 1 PublicationCorresponds to variant dbSNP:rs121918080EnsemblClinVar.1
Natural variantiVAR_00756670S → R in AMYL-TTR; amyloid polyneuropathy. 4 PublicationsCorresponds to variant dbSNP:rs386134269EnsemblClinVar.1
Natural variantiVAR_00756772S → P in AMYL-TTR; amyloid polyneuropathy. 1
Natural variantiVAR_03897573G → E in AMYL-TTR. 1 PublicationCorresponds to variant dbSNP:rs121918097EnsemblClinVar.1
Natural variantiVAR_00756874E → G in AMYL-TTR; amyloid polyneuropathy. 1
Natural variantiVAR_03897674E → K in AMYL-TTR; early-onset amyloid polyneuropathy. 1 Publication1
Natural variantiVAR_00756975L → P in AMYL-TTR; amyloid polyneuropathy. 4 PublicationsCorresponds to variant dbSNP:rs121918079EnsemblClinVar.1
Natural variantiVAR_03897775L → Q in AMYL-TTR. 1 Publication1
Natural variantiVAR_00757078L → H in AMYL-TTR; amyloid polyneuropathy. 1 PublicationCorresponds to variant dbSNP:rs121918069EnsemblClinVar.1
Natural variantiVAR_00757178L → R in AMYL-TTR; amyloid polyneuropathy. 1 PublicationCorresponds to variant dbSNP:rs121918069EnsemblClinVar.1
Natural variantiVAR_00757279T → K in AMYL-TTR; amyloid cardiomyopathy. 1 PublicationCorresponds to variant dbSNP:rs730881163EnsemblClinVar.1
Natural variantiVAR_00757380T → A in AMYL-TTR; amyloid polyneuropathy and cardiomyopathy. 4 PublicationsCorresponds to variant dbSNP:rs121918070EnsemblClinVar.1
Natural variantiVAR_03897881E → G in AMYL-TTR. 1 Publication1
Natural variantiVAR_00757481E → K in AMYL-TTR; amyloid polyneuropathy. 1 PublicationCorresponds to variant dbSNP:rs121918086EnsemblClinVar.1
Natural variantiVAR_00757584F → L in AMYL-TTR; amyloid polyneuropathy. 3 PublicationsCorresponds to variant dbSNP:rs121918091EnsemblClinVar.1
Natural variantiVAR_00757688I → L in AMYL-TTR; amyloid cardiomyopathy. 2 PublicationsCorresponds to variant dbSNP:rs121918085EnsemblClinVar.1
Natural variantiVAR_00757789Y → H in AMYL-TTR; leptomeningeal amyloidosis; vitreous amyloid in some patients. 1 PublicationCorresponds to variant dbSNP:rs121918100EnsemblClinVar.1
Natural variantiVAR_00757890K → N in AMYL-TTR; amyloid polyneuropathy. 1 PublicationCorresponds to variant dbSNP:rs267607160EnsemblClinVar.1
Natural variantiVAR_00757991V → A in AMYL-TTR; amyloid polyneuropathy. 3 PublicationsCorresponds to variant dbSNP:rs121918084EnsemblClinVar.1
Natural variantiVAR_00758093I → V in AMYL-TTR; amyloid polyneuropathy. 1 Publication1
Natural variantiVAR_00758194D → H. Corresponds to variant dbSNP:rs730881164EnsemblClinVar.1
Natural variantiVAR_00758297S → Y in AMYL-TTR; amyloid polyneuropathy. 4 PublicationsCorresponds to variant dbSNP:rs121918071EnsemblClinVar.1
Natural variantiVAR_03897998Y → F in AMYL-TTR. 2 PublicationsCorresponds to variant dbSNP:rs958191819Ensembl.1
Natural variantiVAR_007583104I → N in AMYL-TTR; vitrous amyloid. 1 Publication1
Natural variantiVAR_007584104I → S in AMYL-TTR; amyloid polyneuropathy; almost no RBP binding. 3 PublicationsCorresponds to variant dbSNP:rs121918072<