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Results for the Protein: P02766
136464
TTR

TTHY_HUMAN RecName: Full=Transthyretin; AltName: Full=ATTR; AltName: Full=Prealbumin; AltName: Full=TBPA; Flags: Precursor

Known Diseases associated with this Protein:
  AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
  AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, MODIFIER OF
  AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED
  AMYLOIDOSIS, TRANSTHYRETIN-RELATED (AMYL-TTR)
  CARPAL TUNNEL SYNDROME 1 (CTS1)
  CARPAL TUNNEL SYNDROME, FAMILIAL
  DYSTRANSTHYRETINEMIC EUTHYROIDAL HYPERTHYROXINEMIA
  HYPERTHYROXINEMIA DYSTRANSTHYRETINEMIC EUTHYROIDAL (HTDE)
121
12
46
1
86
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TR_THY - smart00095


Swiss-Prot Protein: P02766
Identical to: NP_000362
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_007559Diseasep.ALA65ASPAmyloidosis, transthyretin-related (AMYL-TTR)
Swiss-ProtVAR_007588Diseasep.ALA117GLYAmyloidosis, transthyretin-related (AMYL-TTR)
Swiss-ProtVAR_007557Diseasep.ALA56PROAmyloidosis, transthyretin-related (AMYL-TTR)
Swiss-ProtVAR_007587Diseasep.ALA111SERAmyloidosis, transthyretin-related (AMYL-TTR)
Swiss-ProtVAR_038982Diseasep.ALA117SERAmyloidosis, transthyretin-related (AMYL-TTR)
Swiss-ProtVAR_038986Diseasep.ALA140SERAmyloidosis, transthyretin-related (AMYL-TTR)
Swiss-ProtVAR_038972Diseasep.ALA65SERAmyloidosis, transthyretin-related (AMYL-TTR)
Swiss-ProtVAR_007593Diseasep.ALA129THRHyperthyroxinemia dystransthyretinemic euthyroidal (HTDE)
Swiss-ProtVAR_007560Diseasep.ALA65THRAmyloidosis, transthyretin-related (AMYL-TTR)
Swiss-ProtVAR_007591Polymorphismp.ARG124CYSN/A
Swiss-ProtVAR_038983Polymorphismp.ARG124HISN/A
Swiss-ProtVAR_038965Diseasep.ARG54THRAmyloidosis, transthyretin-related (AMYL-TTR)
Swiss-ProtVAR_038988Diseasep.ASN144SERAmyloidosis, transthyretin-related (AMYL-TTR)
Swiss-ProtVAR_038967Diseasep.ASP58ALAAmyloidosis, transthyretin-related (AMYL-TTR)
Swiss-ProtVAR_007548Diseasep.ASP38GLUAmyloidosis, transthyretin-related (AMYL-TTR)
Swiss-ProtVAR_007549Diseasep.ASP38GLYAmyloidosis, transthyretin-related (AMYL-TTR)
Swiss-ProtVAR_007581Polymorphismp.ASP94HISN/A
Swiss-ProtVAR_038968Diseasep.ASP58VALAmyloidosis, transthyretin-related (AMYL-TTR)
Swiss-ProtVAR_007547Diseasep.CYS30ARGAmyloidosis, transthyretin-related (AMYL-TTR)
Swiss-ProtVAR_038970Diseasep.GLU62ASPAmyloidosis, transthyretin-related (AMYL-TTR)
Swiss-ProtVAR_007585Diseasep.GLU109GLNAmyloidosis, transthyretin-related (AMYL-TTR)
Swiss-ProtVAR_007558Diseasep.GLU62GLYAmyloidosis, transthyretin-related (AMYL-TTR)
Swiss-ProtVAR_007568Diseasep.GLU74GLYAmyloidosis, transthyretin-related (AMYL-TTR)
Swiss-ProtVAR_038978Diseasep.GLU81GLYAmyloidosis, transthyretin-related (AMYL-TTR)
Swiss-ProtVAR_010659Diseasep.GLU109LYSAmyloidosis, transthyretin-related (AMYL-TTR)
Swiss-ProtVAR_038976Diseasep.GLU74LYSAmyloidosis, transthyretin-related (AMYL-TTR)
Swiss-ProtVAR_007574Diseasep.GLU81LYSAmyloidosis, transthyretin-related (AMYL-TTR)
Swiss-ProtVAR_007561Diseasep.GLY67ALAAmyloidosis, transthyretin-related (AMYL-TTR)
Swiss-ProtVAR_007562Diseasep.GLY67ARGAmyloidosis, transthyretin-related (AMYL-TTR)
Swiss-ProtVAR_038973Diseasep.GLY67GLUAmyloidosis, transthyretin-related (AMYL-TTR)
Swiss-ProtVAR_038975Diseasep.GLY73GLUAmyloidosis, transthyretin-related (AMYL-TTR)
Swiss-ProtVAR_007589Polymorphismp.GLY121SERN/A
dbSNPrs1800458 Polymorphismp.GLY26SERN/A
Swiss-ProtVAR_007563Diseasep.GLY67VALAmyloidosis, transthyretin-related (AMYL-TTR)
Swiss-ProtVAR_007586Polymorphismp.HIS110ASNN/A
Swiss-ProtVAR_007583Diseasep.ILE104ASNAmyloidosis, transthyretin-related (AMYL-TTR)
Swiss-ProtVAR_007576Diseasep.ILE88LEUAmyloidosis, transthyretin-related (AMYL-TTR)
Swiss-ProtVAR_038985Diseasep.ILE127METAmyloidosis, transthyretin-related (AMYL-TTR)
Swiss-ProtVAR_007584Diseasep.ILE104SERAmyloidosis, transthyretin-related (AMYL-TTR)
Swiss-ProtVAR_038980Diseasep.ILE104THRAmyloidosis, transthyretin-related (AMYL-TTR)
Swiss-ProtVAR_007592Diseasep.ILE127VALAmyloidosis, transthyretin-related (AMYL-TTR)
Swiss-ProtVAR_007580Diseasep.ILE93VALAmyloidosis, transthyretin-related (AMYL-TTR)
Swiss-ProtVAR_007571Diseasep.LEU78ARGAmyloidosis, transthyretin-related (AMYL-TTR)
Swiss-ProtVAR_038977Diseasep.LEU75GLNAmyloidosis, transthyretin-related (AMYL-TTR)
Swiss-ProtVAR_007570Diseasep.LEU78HISAmyloidosis, transthyretin-related (AMYL-TTR)
Swiss-ProtVAR_007594Diseasep.LEU131METAmyloidosis, transthyretin-related (AMYL-TTR)
Swiss-ProtVAR_038959Diseasep.LEU32PROAmyloidosis, transthyretin-related (AMYL-TTR)
Swiss-ProtVAR_007569Diseasep.LEU75PROAmyloidosis, transthyretin-related (AMYL-TTR)
Swiss-ProtVAR_038966Diseasep.LYS55ASNAmyloidosis, transthyretin-related (AMYL-TTR)
Swiss-ProtVAR_007578Diseasep.LYS90ASNAmyloidosis, transthyretin-related (AMYL-TTR)
Swiss-ProtVAR_038960Polymorphismp.MET33ILEN/A
Swiss-ProtVAR_038963Polymorphismp.PHE53CYSN/A
Swiss-ProtVAR_007555Diseasep.PHE53ILEAmyloidosis, transthyretin-related (AMYL-TTR)
Swiss-ProtVAR_007556Diseasep.PHE53LEUAmyloidosis, transthyretin-related (AMYL-TTR)
Swiss-ProtVAR_007575Diseasep.PHE84LEUAmyloidosis, transthyretin-related (AMYL-TTR)
Swiss-ProtVAR_038971Diseasep.PHE64SERAmyloidosis, transthyretin-related (AMYL-TTR)
Swiss-ProtVAR_038964Diseasep.PHE53VALAmyloidosis, transthyretin-related (AMYL-TTR)
Swiss-ProtVAR_007590Polymorphismp.PRO122ARGN/A
Swiss-ProtVAR_007551Diseasep.PRO44SERAmyloidosis, transthyretin-related (AMYL-TTR)
Swiss-ProtVAR_007566Diseasep.SER70ARGAmyloidosis, transthyretin-related (AMYL-TTR)
Swiss-ProtVAR_038961Diseasep.SER43ASNAmyloidosis, transthyretin-related (AMYL-TTR)
Swiss-ProtVAR_007565Diseasep.SER70ILEAmyloidosis, transthyretin-related (AMYL-TTR)
Swiss-ProtVAR_007567Diseasep.SER72PROAmyloidosis, transthyretin-related (AMYL-TTR)
Swiss-ProtVAR_007582Diseasep.SER97TYRAmyloidosis, transthyretin-related (AMYL-TTR)
Swiss-ProtVAR_007564Diseasep.THR69ALAAmyloidosis, transthyretin-related (AMYL-TTR)
Swiss-ProtVAR_007573Diseasep.THR80ALAAmyloidosis, transthyretin-related (AMYL-TTR)
Swiss-ProtVAR_038984Diseasep.THR126ASNAmyloidosis, transthyretin-related (AMYL-TTR)
Swiss-ProtVAR_038974Diseasep.THR69ILEAmyloidosis, transthyretin-related (AMYL-TTR)
Swiss-ProtVAR_007572Diseasep.THR79LYSAmyloidosis, transthyretin-related (AMYL-TTR)
Swiss-ProtVAR_007599Polymorphismp.THR139METN/A
Swiss-ProtVAR_038969Diseasep.TRP61LEUAmyloidosis, transthyretin-related (AMYL-TTR)
Swiss-ProtVAR_007595Diseasep.TYR134CYSAmyloidosis, transthyretin-related (AMYL-TTR)
Swiss-ProtVAR_007598Diseasep.TYR134HISCarpal tunnel syndrome 1 (CTS1)
Swiss-ProtVAR_007577Diseasep.TYR89HISAmyloidosis, transthyretin-related (AMYL-TTR)
Swiss-ProtVAR_038979Diseasep.TYR98PHEAmyloidosis, transthyretin-related (AMYL-TTR)
Swiss-ProtVAR_007596Diseasep.TYR136SERAmyloidosis, transthyretin-related (AMYL-TTR)
Swiss-ProtVAR_007597Polymorphismp.TYR136VALN/A
Swiss-ProtVAR_038981Polymorphismp.VAL114ALAN/A
Swiss-ProtVAR_038987Diseasep.VAL142ALAAmyloidosis, transthyretin-related (AMYL-TTR)
Swiss-ProtVAR_007552Diseasep.VAL50ALAAmyloidosis, transthyretin-related (AMYL-TTR)
Swiss-ProtVAR_007579Diseasep.VAL91ALAAmyloidosis, transthyretin-related (AMYL-TTR)
Swiss-ProtVAR_038962Diseasep.VAL50GLYAmyloidosis, transthyretin-related (AMYL-TTR)
Swiss-ProtVAR_007600Diseasep.VAL142ILEAmyloidosis, transthyretin-related (AMYL-TTR)
Swiss-ProtVAR_007550Diseasep.VAL40ILEAmyloidosis, transthyretin-related (AMYL-TTR)
Swiss-ProtVAR_007553Diseasep.VAL50LEUAmyloidosis, transthyretin-related (AMYL-TTR)
Swiss-ProtVAR_010658Diseasep.VAL48METAmyloidosis, transthyretin-related (AMYL-TTR)
Swiss-ProtVAR_007554Diseasep.VAL50METAmyloidosis, transthyretin-related (AMYL-TTR)
OMIM176300.0032 Diseasep.ALA97GLYAMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
OMIM176300.0016 Diseasep.ALA36PROAMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
OMIM176300.0052 Diseasep.ALA97SERAMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
OMIM176300.0015 Diseasep.ALA109THRDYSTRANSTHYRETINEMIC EUTHYROIDAL HYPERTHYROXINEMIA
OMIM176300.0051 Diseasep.ALA25THRAMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED
OMIM176300.0021 Diseasep.ALA45THRAMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
OMIM176300.0038 Diseasep.ALA109VALDYSTRANSTHYRETINEMIC EUTHYROIDAL HYPERTHYROXINEMIA
OMIM176300.0042 Diseasep.ARG104HISAMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
OMIM176300.0047 Diseasep.ASP18GLYAMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED
OMIM176300.0028 Diseasep.CYS10ARGAMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
OMIM176300.0026 Diseasep.GLU89GLNAMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
OMIM176300.0012 Diseasep.GLU42GLYAMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
OMIM176300.0031 Diseasep.GLU61LYSAMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
OMIM176300.0035 Diseasep.GLY47ALAAMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
OMIM176300.0046 Diseasep.GLY53GLUAMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED
OMIM176300.0010 Diseasep.HIS90ASNAMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
OMIM176300.0030 Diseasep.ILE68LEUAMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
OMIM176300.0006 Diseasep.ILE84SERAMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
OMIM176300.0034 Diseasep.ILE107VALAMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
OMIM176300.0019 Diseasep.LEU58ARGAMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
OMIM176300.0003 Diseasep.LEU58HISAMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
OMIM176300.0007 Diseasep.LEU111METAMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
OMIM176300.0041 Diseasep.LEU12PROAMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
OMIM176300.0022 Diseasep.LEU55PROAMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
OMIM176300.0027 Diseasep.LYS70ASNAMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
OMIM176300.0002 Diseasep.PHE33ILEAMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
OMIM176300.0040 Diseasep.PHE33LEUAMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
OMIM176300.0037 Diseasep.PHE64LEUAMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
OMIM176300.0045 Diseasep.PHE44SERAMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
OMIM176300.0048 Diseasep.PHE64SERAMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED
OMIM176300.0013 Diseasep.SER50ARGAMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
OMIM176300.0023 Diseasep.SER50ILEAMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
OMIM176300.0005 Diseasep.SER77TYRAMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
OMIM176300.0025 Diseasep.THR49ALAAMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
OMIM176300.0004 Diseasep.THR60ALAAMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
OMIM176300.0018 Diseasep.THR119METAMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, MODIFIER OF
OMIM176300.0011 Diseasep.TYR114CYSAMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
OMIM176300.0033 Diseasep.TYR114HISCARPAL TUNNEL SYNDROME, FAMILIAL
OMIM176300.0050 Diseasep.TYR69HISAMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED
OMIM176300.0014 Diseasep.VAL30ALAAMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
OMIM176300.0029 Diseasep.VAL71ALAAMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
OMIM176300.0049 Diseasep.VAL30GLYAMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED
OMIM176300.0009 Diseasep.VAL122ILEAMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
OMIM176300.0039 Diseasep.VAL20ILEAMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
OMIM176300.0024 Diseasep.VAL30LEUAMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
OMIM176300.0001 Diseasep.VAL30METAMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED



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