sujigwak/NVAR huggingface dataset:
UniProt ID: P02766
Variant: E -> K at position 81-81
Variant annotation: in AMYLD1; amyloid polyneuropathy; dbSNP:rs121918086
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 84-84
Variant annotation: in AMYLD1; amyloid polyneuropathy; dbSNP:rs121918091
Protein function: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.
Reference sequence:
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE
UniProt ID: P02766
Variant: I -> L at position 88-88
Variant annotation: in AMYLD1; amyloid cardiomyopathy; dbSNP:rs121918085
Protein function: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.
Reference sequence:
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE
UniProt ID: P02766
Variant: Y -> H at position 89-89
Variant annotation: in AMYLD1; leptomeningeal amyloidosis; vitreous amyloid in some patients; dbSNP:rs121918100
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 90-90
Variant annotation: in AMYLD1; amyloid polyneuropathy; dbSNP:rs267607160
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 91-91
Variant annotation: in AMYLD1; amyloid polyneuropathy; dbSNP:rs121918084
Protein function: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.
Reference sequence:
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE
UniProt ID: P02766
Variant: I -> V at position 93-93
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 -> H at position 94-94
Variant annotation: in dbSNP:rs730881164
Protein function: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.
Reference sequence:
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE
UniProt ID: P02766
Variant: S -> Y at position 97-97
Variant annotation: in AMYLD1; amyloid polyneuropathy; dbSNP:rs121918071
Protein function: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.
Reference sequence:
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE
UniProt ID: P02766
Variant: Y -> F at position 98-98
Variant annotation: in AMYLD1; dbSNP:rs958191819
Protein function: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.
Reference sequence:
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE
UniProt ID: P02766
Variant: I -> N at position 104-104
Variant annotation: in AMYLD1; vitrous amyloid
Protein function: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.
Reference sequence:
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE
UniProt ID: P02766
Variant: I -> S at position 104-104
Variant annotation: in AMYLD1; amyloid polyneuropathy; almost no RBP binding; dbSNP:rs121918072
Protein function: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.
Reference sequence:
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE
UniProt ID: P02766
Variant: I -> T at position 104-104
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 -> K at position 109-109
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 -> Q at position 109-109
Variant annotation: in AMYLD1; amyloid polyneuropathy and cardiomyopathy; dbSNP:rs121918082
Protein function: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.
Reference sequence:
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE
UniProt ID: P02766
Variant: H -> N at position 110-110
Variant annotation: in dbSNP:rs121918074
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 111-111
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 114-114
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: A -> G at position 117-117
Variant annotation: in AMYLD1; amyloid polyneuropathy; dbSNP:rs121918087
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 117-117
Variant annotation: in AMYLD1; dbSNP:rs267607161
Protein function: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.
Reference sequence:
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE
UniProt ID: P02766
Variant: G -> S at position 121-121
Variant annotation: in dbSNP:rs755337715
Protein function: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.
Reference sequence:
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE
UniProt ID: P02766
Variant: P -> R at position 122-122
Protein function: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.
Reference sequence:
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE
UniProt ID: P02766
Variant: R -> C at position 124-124
Variant annotation: in dbSNP:rs745834030
Protein function: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.
Reference sequence:
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE
UniProt ID: P02766
Variant: R -> H at position 124-124
Variant annotation: in dbSNP:rs121918095
Protein function: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.
Reference sequence:
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE
UniProt ID: P02766
Variant: T -> N at position 126-126
Variant annotation: in AMYLD1; dbSNP:rs1456101911
Protein function: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.
Reference sequence:
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE
UniProt ID: P02766
Variant: I -> M at position 127-127
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: I -> V at position 127-127
Variant annotation: in AMYLD1; amyloid polyneuropathy; dbSNP:rs121918089
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 129-129
Variant annotation: in DTTRH; increased affinity for thyroxine; dbSNP:rs267607159
Protein function: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.
Reference sequence:
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE
UniProt ID: P02766
Variant: L -> M at position 131-131
Variant annotation: in AMYLD1; dbSNP:rs121918073
Protein function: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.
Reference sequence:
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE
UniProt ID: P02766
Variant: Y -> C at position 134-134
Variant annotation: in AMYLD1; amyloid polyneuropathy; dbSNP:rs121918075
Protein function: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.
Reference sequence:
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE
UniProt ID: P02766
Variant: Y -> H at position 134-134
Variant annotation: in CTS1; amyloid deposit on carpal tunnel; patients show no other abnormalities; dbSNP:rs121918088
Protein function: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.
Reference sequence:
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE
UniProt ID: P02766
Variant: Y -> S at position 136-136
Variant annotation: in AMYLD1; amyloid polyneuropathy; dbSNP:rs730881167
Protein function: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.
Reference sequence:
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE
UniProt ID: P02766
Variant: Y -> V at position 136-136
Variant annotation: requires 2 nucleotide substitutions
Protein function: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.
Reference sequence:
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE
UniProt ID: P02766
Variant: T -> M at position 139-139
Variant annotation: in Chicago variant; dbSNP:rs28933981
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 140-140
Variant annotation: in AMYLD1; dbSNP:rs876658108
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 142-142
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: V -> I at position 142-142
Variant annotation: in AMYLD1; dbSNP:rs76992529
Protein function: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.
Reference sequence:
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE
UniProt ID: P02766
Variant: N -> S at position 144-144
Variant annotation: in AMYLD1; uncertain significance; dbSNP:rs144965179
Protein function: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.
Reference sequence:
MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTAVVTNPKE
UniProt ID: P02771
Variant: K -> Q at position 187-187
Variant annotation: in dbSNP:rs35765619
Protein function: Binds copper, nickel, and fatty acids as well as, and bilirubin less well than, serum albumin. Only a small percentage (less than 2%) of the human AFP shows estrogen-binding properties.
Reference sequence:
MKWVESIFLIFLLNFTESRTLHRNEYGIASILDSYQCTAEISLADLATIFFAQFVQEATYKEVSKMVKDALTAIEKPTGDEQSSGCLENQLPAFLEELCHEKEILEKYGHSDCCSQSEEGRHNCFLAHKKPTPASIPLFQVPEPVTSCEAYEEDRETFMNKFIYEIARRHPFLYAPTILLWAARYDKIIPSCCKAENAVECFQTKAATVTKELRESSLLNQHACAVMKNFGTRTFQAITVTKLSQKFTKVNFTEIQKLVLDVAHVHEHCCRGDVLDCLQDGEKIMSYICSQQDTLSNKITECCKLTTLERGQCIIHAENDEKPEGLSPNLNRFLGDRDFNQFSSGEKNIFLASFVHEYSRRHPQLAVSVILRVAKGYQELLEKCFQTENPLECQDKGEEELQKYIQESQALAKRSCGLFQKLGEYYLQNAFLVAYTKKAPQLTSSELMAITRKMAATAATCCQLSEDKLLACGEGAADIIIGHLCIRHEMTPVNPGVGQCCTSSYANRRPCFSSLVVDETYVPPAFSDDKFIFHKDLCQAQGVALQTMKQEFLINLVKQKPQITEEQLEAVIADFSGLLEKCCQGQEQEVCFAEEGQKLISKTRAALGV
UniProt ID: P02771
Variant: A -> G at position 570-570
Variant annotation: in dbSNP:rs7790
Protein function: Binds copper, nickel, and fatty acids as well as, and bilirubin less well than, serum albumin. Only a small percentage (less than 2%) of the human AFP shows estrogen-binding properties.
Reference sequence:
MKWVESIFLIFLLNFTESRTLHRNEYGIASILDSYQCTAEISLADLATIFFAQFVQEATYKEVSKMVKDALTAIEKPTGDEQSSGCLENQLPAFLEELCHEKEILEKYGHSDCCSQSEEGRHNCFLAHKKPTPASIPLFQVPEPVTSCEAYEEDRETFMNKFIYEIARRHPFLYAPTILLWAARYDKIIPSCCKAENAVECFQTKAATVTKELRESSLLNQHACAVMKNFGTRTFQAITVTKLSQKFTKVNFTEIQKLVLDVAHVHEHCCRGDVLDCLQDGEKIMSYICSQQDTLSNKITECCKLTTLERGQCIIHAENDEKPEGLSPNLNRFLGDRDFNQFSSGEKNIFLASFVHEYSRRHPQLAVSVILRVAKGYQELLEKCFQTENPLECQDKGEEELQKYIQESQALAKRSCGLFQKLGEYYLQNAFLVAYTKKAPQLTSSELMAITRKMAATAATCCQLSEDKLLACGEGAADIIIGHLCIRHEMTPVNPGVGQCCTSSYANRRPCFSSLVVDETYVPPAFSDDKFIFHKDLCQAQGVALQTMKQEFLINLVKQKPQITEEQLEAVIADFSGLLEKCCQGQEQEVCFAEEGQKLISKTRAALGV
UniProt ID: P02774
Variant: D -> E at position 432-432
Variant annotation: in allele GC*1S; dbSNP:rs7041
Protein function: Involved in vitamin D transport and storage, scavenging of extracellular G-actin, enhancement of the chemotactic activity of C5 alpha for neutrophils in inflammation and macrophage activation.
Reference sequence:
MKRVLVLLLAVAFGHALERGRDYEKNKVCKEFSHLGKEDFTSLSLVLYSRKFPSGTFEQVSQLVKEVVSLTEACCAEGADPDCYDTRTSALSAKSCESNSPFPVHPGTAECCTKEGLERKLCMAALKHQPQEFPTYVEPTNDEICEAFRKDPKEYANQFMWEYSTNYGQAPLSLLVSYTKSYLSMVGSCCTSASPTVCFLKERLQLKHLSLLTTLSNRVCSQYAAYGEKKSRLSNLIKLAQKVPTADLEDVLPLAEDITNILSKCCESASEDCMAKELPEHTVKLCDNLSTKNSKFEDCCQEKTAMDVFVCTYFMPAAQLPELPDVELPTNKDVCDPGNTKVMDKYTFELSRRTHLPEVFLSKVLEPTLKSLGECCDVEDSTTCFNAKGPLLKKELSSFIDKGQELCADYSENTFTEYKKKLAERLKAKLPDATPTELAKLVNKHSDFASNCCSINSPPLYCDSEIDAELKNIL
UniProt ID: P02774
Variant: T -> K at position 436-436
Variant annotation: in allele GC*2, allele GC*2A9; dbSNP:rs4588
Protein function: Involved in vitamin D transport and storage, scavenging of extracellular G-actin, enhancement of the chemotactic activity of C5 alpha for neutrophils in inflammation and macrophage activation.
Reference sequence:
MKRVLVLLLAVAFGHALERGRDYEKNKVCKEFSHLGKEDFTSLSLVLYSRKFPSGTFEQVSQLVKEVVSLTEACCAEGADPDCYDTRTSALSAKSCESNSPFPVHPGTAECCTKEGLERKLCMAALKHQPQEFPTYVEPTNDEICEAFRKDPKEYANQFMWEYSTNYGQAPLSLLVSYTKSYLSMVGSCCTSASPTVCFLKERLQLKHLSLLTTLSNRVCSQYAAYGEKKSRLSNLIKLAQKVPTADLEDVLPLAEDITNILSKCCESASEDCMAKELPEHTVKLCDNLSTKNSKFEDCCQEKTAMDVFVCTYFMPAAQLPELPDVELPTNKDVCDPGNTKVMDKYTFELSRRTHLPEVFLSKVLEPTLKSLGECCDVEDSTTCFNAKGPLLKKELSSFIDKGQELCADYSENTFTEYKKKLAERLKAKLPDATPTELAKLVNKHSDFASNCCSINSPPLYCDSEIDAELKNIL
UniProt ID: P02774
Variant: H -> C at position 445-445
Variant annotation: in allele GC*2A9; requires 2 nucleotide substitutions
Protein function: Involved in vitamin D transport and storage, scavenging of extracellular G-actin, enhancement of the chemotactic activity of C5 alpha for neutrophils in inflammation and macrophage activation.
Reference sequence:
MKRVLVLLLAVAFGHALERGRDYEKNKVCKEFSHLGKEDFTSLSLVLYSRKFPSGTFEQVSQLVKEVVSLTEACCAEGADPDCYDTRTSALSAKSCESNSPFPVHPGTAECCTKEGLERKLCMAALKHQPQEFPTYVEPTNDEICEAFRKDPKEYANQFMWEYSTNYGQAPLSLLVSYTKSYLSMVGSCCTSASPTVCFLKERLQLKHLSLLTTLSNRVCSQYAAYGEKKSRLSNLIKLAQKVPTADLEDVLPLAEDITNILSKCCESASEDCMAKELPEHTVKLCDNLSTKNSKFEDCCQEKTAMDVFVCTYFMPAAQLPELPDVELPTNKDVCDPGNTKVMDKYTFELSRRTHLPEVFLSKVLEPTLKSLGECCDVEDSTTCFNAKGPLLKKELSSFIDKGQELCADYSENTFTEYKKKLAERLKAKLPDATPTELAKLVNKHSDFASNCCSINSPPLYCDSEIDAELKNIL
UniProt ID: P02774
Variant: H -> R at position 445-445
Variant annotation: in allele GC*1F, allele GC*2 and allele GC*1S; dbSNP:rs9016
Protein function: Involved in vitamin D transport and storage, scavenging of extracellular G-actin, enhancement of the chemotactic activity of C5 alpha for neutrophils in inflammation and macrophage activation.
Reference sequence:
MKRVLVLLLAVAFGHALERGRDYEKNKVCKEFSHLGKEDFTSLSLVLYSRKFPSGTFEQVSQLVKEVVSLTEACCAEGADPDCYDTRTSALSAKSCESNSPFPVHPGTAECCTKEGLERKLCMAALKHQPQEFPTYVEPTNDEICEAFRKDPKEYANQFMWEYSTNYGQAPLSLLVSYTKSYLSMVGSCCTSASPTVCFLKERLQLKHLSLLTTLSNRVCSQYAAYGEKKSRLSNLIKLAQKVPTADLEDVLPLAEDITNILSKCCESASEDCMAKELPEHTVKLCDNLSTKNSKFEDCCQEKTAMDVFVCTYFMPAAQLPELPDVELPTNKDVCDPGNTKVMDKYTFELSRRTHLPEVFLSKVLEPTLKSLGECCDVEDSTTCFNAKGPLLKKELSSFIDKGQELCADYSENTFTEYKKKLAERLKAKLPDATPTELAKLVNKHSDFASNCCSINSPPLYCDSEIDAELKNIL
UniProt ID: P02787
Variant: R -> L at position 42-42
Variant annotation: in dbSNP:rs41298293
Protein function: (Microbial infection) Serves as an iron source for Neisseria species, which capture the protein and extract its iron for their own use.
Reference sequence:
MRLAVGALLVCAVLGLCLAVPDKTVRWCAVSEHEATKCQSFRDHMKSVIPSDGPSVACVKKASYLDCIRAIAANEADAVTLDAGLVYDAYLAPNNLKPVVAEFYGSKEDPQTFYYAVAVVKKDSGFQMNQLRGKKSCHTGLGRSAGWNIPIGLLYCDLPEPRKPLEKAVANFFSGSCAPCADGTDFPQLCQLCPGCGCSTLNQYFGYSGAFKCLKDGAGDVAFVKHSTIFENLANKADRDQYELLCLDNTRKPVDEYKDCHLAQVPSHTVVARSMGGKEDLIWELLNQAQEHFGKDKSKEFQLFSSPHGKDLLFKDSAHGFLKVPPRMDAKMYLGYEYVTAIRNLREGTCPEAPTDECKPVKWCALSHHERLKCDEWSVNSVGKIECVSAETTEDCIAKIMNGEADAMSLDGGFVYIAGKCGLVPVLAENYNKSDNCEDTPEAGYFAIAVVKKSASDLTWDNLKGKKSCHTAVGRTAGWNIPMGLLYNKINHCRFDEFFSEGCAPGSKKDSSLCKLCMGSGLNLCEPNNKEGYYGYTGAFRCLVEKGDVAFVKHQTVPQNTGGKNPDPWAKNLNEKDYELLCLDGTRKPVEEYANCHLARAPNHAVVTRKDKEACVHKILRQQQHLFGSNVTDCSGNFCLFRSETKDLLFRDDTVCLAKLHDRNTYEKYLGEEYVKAVGNLRKCSTSSLLEACTFRRP
UniProt ID: P02787
Variant: S -> R at position 55-55
Variant annotation: in dbSNP:rs8177318
Protein function: (Microbial infection) Serves as an iron source for Neisseria species, which capture the protein and extract its iron for their own use.
Reference sequence:
MRLAVGALLVCAVLGLCLAVPDKTVRWCAVSEHEATKCQSFRDHMKSVIPSDGPSVACVKKASYLDCIRAIAANEADAVTLDAGLVYDAYLAPNNLKPVVAEFYGSKEDPQTFYYAVAVVKKDSGFQMNQLRGKKSCHTGLGRSAGWNIPIGLLYCDLPEPRKPLEKAVANFFSGSCAPCADGTDFPQLCQLCPGCGCSTLNQYFGYSGAFKCLKDGAGDVAFVKHSTIFENLANKADRDQYELLCLDNTRKPVDEYKDCHLAQVPSHTVVARSMGGKEDLIWELLNQAQEHFGKDKSKEFQLFSSPHGKDLLFKDSAHGFLKVPPRMDAKMYLGYEYVTAIRNLREGTCPEAPTDECKPVKWCALSHHERLKCDEWSVNSVGKIECVSAETTEDCIAKIMNGEADAMSLDGGFVYIAGKCGLVPVLAENYNKSDNCEDTPEAGYFAIAVVKKSASDLTWDNLKGKKSCHTAVGRTAGWNIPMGLLYNKINHCRFDEFFSEGCAPGSKKDSSLCKLCMGSGLNLCEPNNKEGYYGYTGAFRCLVEKGDVAFVKHQTVPQNTGGKNPDPWAKNLNEKDYELLCLDGTRKPVEEYANCHLARAPNHAVVTRKDKEACVHKILRQQQHLFGSNVTDCSGNFCLFRSETKDLLFRDDTVCLAKLHDRNTYEKYLGEEYVKAVGNLRKCSTSSLLEACTFRRP
UniProt ID: P02787
Variant: A -> V at position 76-76
Variant annotation: in dbSNP:rs41298977
Protein function: (Microbial infection) Serves as an iron source for Neisseria species, which capture the protein and extract its iron for their own use.
Reference sequence:
MRLAVGALLVCAVLGLCLAVPDKTVRWCAVSEHEATKCQSFRDHMKSVIPSDGPSVACVKKASYLDCIRAIAANEADAVTLDAGLVYDAYLAPNNLKPVVAEFYGSKEDPQTFYYAVAVVKKDSGFQMNQLRGKKSCHTGLGRSAGWNIPIGLLYCDLPEPRKPLEKAVANFFSGSCAPCADGTDFPQLCQLCPGCGCSTLNQYFGYSGAFKCLKDGAGDVAFVKHSTIFENLANKADRDQYELLCLDNTRKPVDEYKDCHLAQVPSHTVVARSMGGKEDLIWELLNQAQEHFGKDKSKEFQLFSSPHGKDLLFKDSAHGFLKVPPRMDAKMYLGYEYVTAIRNLREGTCPEAPTDECKPVKWCALSHHERLKCDEWSVNSVGKIECVSAETTEDCIAKIMNGEADAMSLDGGFVYIAGKCGLVPVLAENYNKSDNCEDTPEAGYFAIAVVKKSASDLTWDNLKGKKSCHTAVGRTAGWNIPMGLLYNKINHCRFDEFFSEGCAPGSKKDSSLCKLCMGSGLNLCEPNNKEGYYGYTGAFRCLVEKGDVAFVKHQTVPQNTGGKNPDPWAKNLNEKDYELLCLDGTRKPVEEYANCHLARAPNHAVVTRKDKEACVHKILRQQQHLFGSNVTDCSGNFCLFRSETKDLLFRDDTVCLAKLHDRNTYEKYLGEEYVKAVGNLRKCSTSSLLEACTFRRP
UniProt ID: P02787
Variant: D -> N at position 77-77
Variant annotation: in ATRAF; dbSNP:rs121918681
Protein function: (Microbial infection) Serves as an iron source for Neisseria species, which capture the protein and extract its iron for their own use.
Reference sequence:
MRLAVGALLVCAVLGLCLAVPDKTVRWCAVSEHEATKCQSFRDHMKSVIPSDGPSVACVKKASYLDCIRAIAANEADAVTLDAGLVYDAYLAPNNLKPVVAEFYGSKEDPQTFYYAVAVVKKDSGFQMNQLRGKKSCHTGLGRSAGWNIPIGLLYCDLPEPRKPLEKAVANFFSGSCAPCADGTDFPQLCQLCPGCGCSTLNQYFGYSGAFKCLKDGAGDVAFVKHSTIFENLANKADRDQYELLCLDNTRKPVDEYKDCHLAQVPSHTVVARSMGGKEDLIWELLNQAQEHFGKDKSKEFQLFSSPHGKDLLFKDSAHGFLKVPPRMDAKMYLGYEYVTAIRNLREGTCPEAPTDECKPVKWCALSHHERLKCDEWSVNSVGKIECVSAETTEDCIAKIMNGEADAMSLDGGFVYIAGKCGLVPVLAENYNKSDNCEDTPEAGYFAIAVVKKSASDLTWDNLKGKKSCHTAVGRTAGWNIPMGLLYNKINHCRFDEFFSEGCAPGSKKDSSLCKLCMGSGLNLCEPNNKEGYYGYTGAFRCLVEKGDVAFVKHQTVPQNTGGKNPDPWAKNLNEKDYELLCLDGTRKPVEEYANCHLARAPNHAVVTRKDKEACVHKILRQQQHLFGSNVTDCSGNFCLFRSETKDLLFRDDTVCLAKLHDRNTYEKYLGEEYVKAVGNLRKCSTSSLLEACTFRRP