Variant position: 53 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 147 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human MVKVLDAVRGSPAINVAVHV FRKAADDTWEPFASGKTSESG
Chimpanzee MVKVLDAVRGSPAINVAVHV FKKAADETWEPFASGKTSESG
Mouse MVKVLDAVRGSPAVDVAVKV FKKTSEGSWEPFASGKTAESG
Rat MVKVLDAVRGSPAVDVAVKV FKKTADGSWEPFASGKTAESG
Pig MVKVLDAVRGSPAVNVGVKV FKKAADGTWEPFALGKTSEFG
Bovine MVKVLDAVRGSPAANVGVKV FKKAADETWEPFASGKTSESG
Rabbit MVKVLDAVRGSPAVDVSVHV FKKAADETWEPFASGKTSKTG
Sheep MVKVLDAVRGSPAANVGVKV FKKAADETWEPFASGKTSDSG
Chicken MVKVLDAVRGSPAANVAVKV FKKAADGTWQDFATGKTTEFG
Xenopus laevis MVKVLDAVRGIPAANLLVNV FRQTESGKWEQITSGKTTELG
Xenopus tropicalis MVKVLDAVRGIPAANLLVQV FRNT-EGNWELISSGKTTELG
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
21 – 147 Transthyretin
35 – 35 Thyroid hormones
62 – 62 4-carboxyglutamate; in a patient with Moyamoya disease
72 – 72 Phosphoserine
49 – 55
Revised analysis of amino acid replacement in a prealbumin variant (SKO-III) associated with familial amyloidotic polyneuropathy of Jewish origin.
Nakazato M.; Kangawa K.; Minamino N.; Tawara S.; Matsuo H.; Araki S.;
Biochem. Biophys. Res. Commun. 123:921-928(1984)
Cited for: VARIANT AMYL-TTR ILE-53;
A double-variant transthyretin allele (Ser 6, Ile 33) in the Israeli patient 'SKO' with familial amyloidotic polyneuropathy.
Jacobson D.R.; Buxbaum J.N.;
Hum. Mutat. 3:254-260(1994)
Cited for: VARIANT SER-26; VARIANT AMYL-TTR ILE-53;
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