Variant position: 79 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 DTWEPFASGKTSESGELHGL TTEEEFVEGIYKVEIDTKSYW
Chimpanzee ETWEPFASGKTSESGELHGL TTEEEFVEGIYKVEIDTKSYW
Mouse GSWEPFASGKTAESGELHGL TTDEKFVEGVYRVELDTKSYW
Rat GSWEPFASGKTAESGELHGL TTDEKFTEGVYRVELDTKSYW
Pig GTWEPFALGKTSEFGELHGL TTDEKFVEGIYKVELDTKSYW
Bovine ETWEPFASGKTSESGELHGL TTEDKFVEGLYKVELDTKSYW
Rabbit ETWEPFASGKTSKTGELHGL TTSEKFVEGVYKVELDTKSYW
Sheep ETWEPFASGKTSDSGELHGL TTEDKFVEGLYKVELDTKSYW
Chicken GTWQDFATGKTTEFGEIHEL TTEEQFVEGVYRVEFDTSSYW
Xenopus laevis GKWEQITSGKTTELGEIHNL TTDEQFTEGVYKIEFATKAFW
Xenopus tropicalis GNWELISSGKTTELGEIHNI ITDEQFTEGVYKIEFATKTFW
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
74 – 74 Thyroid hormones
62 – 62 4-carboxyglutamate; in a patient with Moyamoya disease
72 – 72 Phosphoserine
77 – 80
A novel variant of transthyretin, 59Thr-->Lys, associated with autosomal dominant cardiac amyloidosis in an Italian family.
Booth D.R.; Tan S.Y.; Hawkins P.N.; Pepys M.B.; Frustaci A.;
Cited for: VARIANT AMYL-TTR LYS-79;
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