sujigwak/NVAR huggingface dataset:
UniProt ID: P02763
Variant: V -> M at position 174-174
Variant annotation: in allele ORM1*F2; dbSNP:rs1126801
Protein function: Functions as transport protein in the blood stream. Binds various ligands in the interior of its beta-barrel domain. Also binds synthetic drugs and influences their distribution and availability in the body. Appears to function in modulating the activity of the immune system during the acute-phase reaction.
Reference sequence:
MALSWVLTVLSLLPLLEAQIPLCANLVPVPITNATLDRITGKWFYIASAFRNEEYNKSVQEIQATFFYFTPNKTEDTIFLREYQTRQDQCIYNTTYLNVQRENGTISRYVGGQEHFAHLLILRDTKTYMLAFDVNDEKNWGLSVYADKPETTKEQLGEFYEALDCLRIPKSDVVYTDWKKDKCEPLEKQHEKERKQEEGES
UniProt ID: P02765
Variant: V -> L at position 142-142
Variant annotation: in dbSNP:rs7633550
Protein function: Promotes endocytosis, possesses opsonic properties and influences the mineral phase of bone. Shows affinity for calcium and barium ions.
Reference sequence:
MKSLVLLLCLAQLWGCHSAPHGPGLIYRQPNCDDPETEEAALVAIDYINQNLPWGYKHTLNQIDEVKVWPQQPSGELFEIEIDTLETTCHVLDPTPVARCSVRQLKEHAVEGDCDFQLLKLDGKFSVVYAKCDSSPDSAEDVRKVCQDCPLLAPLNDTRVVHAAKAALAAFNAQNNGSNFQLEEISRAQLVPLPPSTYVEFTVSGTDCVAKEATEAAKCNLLAEKQYGFCKATLSEKLGGAEVAVTCMVFQTQPVSSQPQPEGANEAVPTPVVDPDAPPSPPLGAPGLPPAGSPPDSHVLLAAPPGHQLHRAHYDLRHTFMGVVSLGSPSGEVSHPRKTRTVVQPSVGAAAGPVVPPCPGRIRHFKV
UniProt ID: P02765
Variant: M -> T at position 248-248
Variant annotation: in allele AHSG*1; dbSNP:rs4917
Protein function: Promotes endocytosis, possesses opsonic properties and influences the mineral phase of bone. Shows affinity for calcium and barium ions.
Reference sequence:
MKSLVLLLCLAQLWGCHSAPHGPGLIYRQPNCDDPETEEAALVAIDYINQNLPWGYKHTLNQIDEVKVWPQQPSGELFEIEIDTLETTCHVLDPTPVARCSVRQLKEHAVEGDCDFQLLKLDGKFSVVYAKCDSSPDSAEDVRKVCQDCPLLAPLNDTRVVHAAKAALAAFNAQNNGSNFQLEEISRAQLVPLPPSTYVEFTVSGTDCVAKEATEAAKCNLLAEKQYGFCKATLSEKLGGAEVAVTCMVFQTQPVSSQPQPEGANEAVPTPVVDPDAPPSPPLGAPGLPPAGSPPDSHVLLAAPPGHQLHRAHYDLRHTFMGVVSLGSPSGEVSHPRKTRTVVQPSVGAAAGPVVPPCPGRIRHFKV
UniProt ID: P02765
Variant: S -> T at position 256-256
Variant annotation: in allele AHSG*1; dbSNP:rs4918
Protein function: Promotes endocytosis, possesses opsonic properties and influences the mineral phase of bone. Shows affinity for calcium and barium ions.
Reference sequence:
MKSLVLLLCLAQLWGCHSAPHGPGLIYRQPNCDDPETEEAALVAIDYINQNLPWGYKHTLNQIDEVKVWPQQPSGELFEIEIDTLETTCHVLDPTPVARCSVRQLKEHAVEGDCDFQLLKLDGKFSVVYAKCDSSPDSAEDVRKVCQDCPLLAPLNDTRVVHAAKAALAAFNAQNNGSNFQLEEISRAQLVPLPPSTYVEFTVSGTDCVAKEATEAAKCNLLAEKQYGFCKATLSEKLGGAEVAVTCMVFQTQPVSSQPQPEGANEAVPTPVVDPDAPPSPPLGAPGLPPAGSPPDSHVLLAAPPGHQLHRAHYDLRHTFMGVVSLGSPSGEVSHPRKTRTVVQPSVGAAAGPVVPPCPGRIRHFKV
UniProt ID: P02765
Variant: D -> N at position 276-276
Variant annotation: in allele AHSG*5; dbSNP:rs70961709
Protein function: Promotes endocytosis, possesses opsonic properties and influences the mineral phase of bone. Shows affinity for calcium and barium ions.
Reference sequence:
MKSLVLLLCLAQLWGCHSAPHGPGLIYRQPNCDDPETEEAALVAIDYINQNLPWGYKHTLNQIDEVKVWPQQPSGELFEIEIDTLETTCHVLDPTPVARCSVRQLKEHAVEGDCDFQLLKLDGKFSVVYAKCDSSPDSAEDVRKVCQDCPLLAPLNDTRVVHAAKAALAAFNAQNNGSNFQLEEISRAQLVPLPPSTYVEFTVSGTDCVAKEATEAAKCNLLAEKQYGFCKATLSEKLGGAEVAVTCMVFQTQPVSSQPQPEGANEAVPTPVVDPDAPPSPPLGAPGLPPAGSPPDSHVLLAAPPGHQLHRAHYDLRHTFMGVVSLGSPSGEVSHPRKTRTVVQPSVGAAAGPVVPPCPGRIRHFKV
UniProt ID: P02765
Variant: R -> C at position 317-317
Variant annotation: in allele AHSG*3; dbSNP:rs35457250
Protein function: Promotes endocytosis, possesses opsonic properties and influences the mineral phase of bone. Shows affinity for calcium and barium ions.
Reference sequence:
MKSLVLLLCLAQLWGCHSAPHGPGLIYRQPNCDDPETEEAALVAIDYINQNLPWGYKHTLNQIDEVKVWPQQPSGELFEIEIDTLETTCHVLDPTPVARCSVRQLKEHAVEGDCDFQLLKLDGKFSVVYAKCDSSPDSAEDVRKVCQDCPLLAPLNDTRVVHAAKAALAAFNAQNNGSNFQLEEISRAQLVPLPPSTYVEFTVSGTDCVAKEATEAAKCNLLAEKQYGFCKATLSEKLGGAEVAVTCMVFQTQPVSSQPQPEGANEAVPTPVVDPDAPPSPPLGAPGLPPAGSPPDSHVLLAAPPGHQLHRAHYDLRHTFMGVVSLGSPSGEVSHPRKTRTVVQPSVGAAAGPVVPPCPGRIRHFKV
UniProt ID: P02765
Variant: R -> H at position 317-317
Variant annotation: in APMR1; uncertain significance; dbSNP:rs201849460
Protein function: Promotes endocytosis, possesses opsonic properties and influences the mineral phase of bone. Shows affinity for calcium and barium ions.
Reference sequence:
MKSLVLLLCLAQLWGCHSAPHGPGLIYRQPNCDDPETEEAALVAIDYINQNLPWGYKHTLNQIDEVKVWPQQPSGELFEIEIDTLETTCHVLDPTPVARCSVRQLKEHAVEGDCDFQLLKLDGKFSVVYAKCDSSPDSAEDVRKVCQDCPLLAPLNDTRVVHAAKAALAAFNAQNNGSNFQLEEISRAQLVPLPPSTYVEFTVSGTDCVAKEATEAAKCNLLAEKQYGFCKATLSEKLGGAEVAVTCMVFQTQPVSSQPQPEGANEAVPTPVVDPDAPPSPPLGAPGLPPAGSPPDSHVLLAAPPGHQLHRAHYDLRHTFMGVVSLGSPSGEVSHPRKTRTVVQPSVGAAAGPVVPPCPGRIRHFKV
UniProt ID: P02766
Variant: G -> S at position 26-26
Variant annotation: in dbSNP:rs1800458
Protein function: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.
Reference sequence:
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE
UniProt ID: P02766
Variant: C -> R at position 30-30
Variant annotation: in AMYLD1; amyloid polyneuropathy; dbSNP:rs121918083
Protein function: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.
Reference sequence:
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE
UniProt ID: P02766
Variant: L -> P at position 32-32
Variant annotation: in AMYLD1; dbSNP:rs121918094
Protein function: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.
Reference sequence:
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE
UniProt ID: P02766
Variant: M -> I at position 33-33
Protein function: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.
Reference sequence:
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE
UniProt ID: P02766
Variant: D -> E at position 38-38
Variant annotation: in AMYLD1; amyloid polyneuropathy
Protein function: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.
Reference sequence:
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE
UniProt ID: P02766
Variant: D -> G at position 38-38
Variant annotation: in AMYLD1; leptomeningeal amyloidosis; leads to unfolding and exposure of N-118 to glycosylation by STT3B and subsequent degradation by the ERAD pathway; dbSNP:rs121918098
Protein function: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.
Reference sequence:
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE
UniProt ID: P02766
Variant: V -> I at position 40-40
Variant annotation: in AMYLD1; late-onset amyloid polyneuropathy with carpal tunnel syndrome; dbSNP:rs121918093
Protein function: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.
Reference sequence:
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE
UniProt ID: P02766
Variant: S -> N at position 43-43
Variant annotation: in AMYLD1
Protein function: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.
Reference sequence:
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE
UniProt ID: P02766
Variant: P -> S at position 44-44
Variant annotation: in AMYLD1; amyloid polyneuropathy; dbSNP:rs11541790
Protein function: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.
Reference sequence:
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE
UniProt ID: P02766
Variant: V -> M at position 48-48
Variant annotation: in AMYLD1; amyloid polyneuropathy
Protein function: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.
Reference sequence:
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE
UniProt ID: P02766
Variant: V -> A at position 50-50
Variant annotation: in AMYLD1; amyloid polyneuropathy; dbSNP:rs79977247
Protein function: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.
Reference sequence:
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE
UniProt ID: P02766
Variant: V -> G at position 50-50
Variant annotation: in AMYLD1; dbSNP:rs79977247
Protein function: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.
Reference sequence:
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE
UniProt ID: P02766
Variant: V -> L at position 50-50
Variant annotation: in AMYLD1; amyloid polyneuropathy; dbSNP:rs28933979
Protein function: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.
Reference sequence:
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE
UniProt ID: P02766
Variant: V -> M at position 50-50
Variant annotation: in AMYLD1; amyloid polyneuropathy; by far the most frequent mutation; dbSNP:rs28933979
Protein function: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.
Reference sequence:
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE
UniProt ID: P02766
Variant: F -> C at position 53-53
Variant annotation: in a patient with amyloidosis
Protein function: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.
Reference sequence:
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE
UniProt ID: P02766
Variant: F -> I at position 53-53
Variant annotation: in AMYLD1; Jewish 'SKO' amyloid polyneuropathy; dbSNP:rs121918068
Protein function: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.
Reference sequence:
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE
UniProt ID: P02766
Variant: F -> L at position 53-53
Variant annotation: in AMYLD1; amyloid polyneuropathy; dbSNP:rs121918068
Protein function: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.
Reference sequence:
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE
UniProt ID: P02766
Variant: F -> V at position 53-53
Variant annotation: in AMYLD1; amyloid polyneuropathy
Protein function: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.
Reference sequence:
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE
UniProt ID: P02766
Variant: R -> T at position 54-54
Variant annotation: in AMYLD1
Protein function: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.
Reference sequence:
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE
UniProt ID: P02766
Variant: K -> N at position 55-55
Variant annotation: in AMYLD1; amyloid polyneuropathy
Protein function: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.
Reference sequence:
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE
UniProt ID: P02766
Variant: A -> P at position 56-56
Variant annotation: in AMYLD1; amyloid polyneuropathy; dbSNP:rs121918077
Protein function: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.
Reference sequence:
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE
UniProt ID: P02766
Variant: D -> A at position 58-58
Variant annotation: in AMYLD1
Protein function: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.
Reference sequence:
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE
UniProt ID: P02766
Variant: D -> V at position 58-58
Variant annotation: in AMYLD1
Protein function: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.
Reference sequence:
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE
UniProt ID: P02766
Variant: W -> L at position 61-61
Variant annotation: in AMYLD1
Protein function: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.
Reference sequence:
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE
UniProt ID: P02766
Variant: E -> D at position 62-62
Variant annotation: in AMYLD1; dbSNP:rs11541796
Protein function: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.
Reference sequence:
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE
UniProt ID: P02766
Variant: E -> G at position 62-62
Variant annotation: in AMYLD1; amyloid polyneuropathy; dbSNP:rs11541796
Protein function: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.
Reference sequence:
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE
UniProt ID: P02766
Variant: F -> S at position 64-64
Variant annotation: in AMYLD1; dbSNP:rs104894665
Protein function: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.
Reference sequence:
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE
UniProt ID: P02766
Variant: A -> D at position 65-65
Variant annotation: in AMYLD1; amyloid cardiomyopathy; dbSNP:rs730881169
Protein function: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.
Reference sequence:
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE
UniProt ID: P02766
Variant: A -> S at position 65-65
Variant annotation: in AMYLD1
Protein function: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.
Reference sequence:
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE
UniProt ID: P02766
Variant: A -> T at position 65-65
Variant annotation: in AMYLD1; amyloid cardiomyopathy; dbSNP:rs121918078
Protein function: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.
Reference sequence:
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE
UniProt ID: P02766
Variant: G -> A at position 67-67
Variant annotation: in AMYLD1; amyloid polyneuropathy; dbSNP:rs121918090
Protein function: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.
Reference sequence:
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE
UniProt ID: P02766
Variant: G -> E at position 67-67
Variant annotation: in AMYLD1
Protein function: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.
Reference sequence:
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE
UniProt ID: P02766
Variant: G -> R at position 67-67
Variant annotation: in AMYLD1; amyloid polyneuropathy; dbSNP:rs387906523
Protein function: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.
Reference sequence:
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE
UniProt ID: P02766
Variant: G -> V at position 67-67
Variant annotation: in AMYLD1; amyloid polyneuropathy with carpal tunnel syndrome
Protein function: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.
Reference sequence:
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE
UniProt ID: P02766
Variant: T -> A at position 69-69
Variant annotation: in AMYLD1; amyloid polyneuropathy; dbSNP:rs121918081
Protein function: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.
Reference sequence:
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE
UniProt ID: P02766
Variant: T -> I at position 69-69
Variant annotation: in AMYLD1
Protein function: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.
Reference sequence:
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE
UniProt ID: P02766
Variant: S -> I at position 70-70
Variant annotation: in AMYLD1; amyloid cardiomyopathy; dbSNP:rs121918080
Protein function: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.
Reference sequence:
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE
UniProt ID: P02766
Variant: S -> R at position 70-70
Variant annotation: in AMYLD1; amyloid polyneuropathy; dbSNP:rs386134269
Protein function: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.
Reference sequence:
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE
UniProt ID: P02766
Variant: S -> P at position 72-72
Variant annotation: in AMYLD1; amyloid polyneuropathy
Protein function: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.
Reference sequence:
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE
UniProt ID: P02766
Variant: G -> E at position 73-73
Variant annotation: in AMYLD1; dbSNP:rs121918097
Protein function: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.
Reference sequence:
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE
UniProt ID: P02766
Variant: E -> G at position 74-74
Variant annotation: in AMYLD1; amyloid polyneuropathy
Protein function: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.
Reference sequence:
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE
UniProt ID: P02766
Variant: E -> K at position 74-74
Variant annotation: in AMYLD1; early-onset amyloid polyneuropathy
Protein function: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.
Reference sequence:
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE
UniProt ID: P02766
Variant: L -> P at position 75-75
Variant annotation: in AMYLD1; amyloid polyneuropathy; dbSNP:rs121918079
Protein function: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.
Reference sequence:
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE
UniProt ID: P02766
Variant: L -> Q at position 75-75
Variant annotation: in AMYLD1
Protein function: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.
Reference sequence:
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE
UniProt ID: P02766
Variant: L -> H at position 78-78
Variant annotation: in AMYLD1; amyloid polyneuropathy; dbSNP:rs121918069
Protein function: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.
Reference sequence:
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE
UniProt ID: P02766
Variant: L -> R at position 78-78
Variant annotation: in AMYLD1; amyloid polyneuropathy; dbSNP:rs121918069
Protein function: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.
Reference sequence:
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE
UniProt ID: P02766
Variant: T -> K at position 79-79
Variant annotation: in AMYLD1; amyloid cardiomyopathy; dbSNP:rs730881163
Protein function: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.
Reference sequence:
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE
UniProt ID: P02766
Variant: T -> A at position 80-80
Variant annotation: in AMYLD1; amyloid polyneuropathy and cardiomyopathy; dbSNP:rs121918070
Protein function: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.
Reference sequence:
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE
UniProt ID: P02766
Variant: E -> G at position 81-81
Variant annotation: in AMYLD1
Protein function: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.
Reference sequence:
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE