Variant position: 140 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 SGPRRYTIAALLSPYSYSTT AVVTNPKE---
Chimpanzee SGPRRYTIAALLSPYSYSTT AVVTIPKE
Mouse SGHRHYTIAALLSPYSYSTT AVVSNPQN
Rat SGHRHYTIAALLSPYSYSTT AVVSNPQN
Pig SGRRHYTIAALLSPYSYSTT ALVSSPKE
Bovine SGPRHYTIAALLSPYSYSTT ALVSSPKA
Rabbit SGHRSYTIAALLSPFSYSTT AVVSNPQE
Sheep SGLRHYTIAALLSPYSYSTT ALVSSPKE
Chicken SGHRHYTIAALLSPFSYSTT AVVSDPQE
Xenopus laevis AGHRHYTIAVLLTPYSFSST AIVSEPHD
Xenopus tropicalis AGHRHYTIAVLLTPYSISST AVVSEPHD
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
130 – 130 L -> M. Loss of tetramerization; when associated with M-107.
135 – 143
Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis.
Lachmann H.J.; Booth D.R.; Booth S.E.; Bybee A.; Gilbertson J.A.; Gillmore J.D.; Pepys M.B.; Hawkins P.N.;
N. Engl. J. Med. 346:1786-1791(2002)
Cited for: VARIANTS AMYL-TTR MET-50; LEU-53; VAL-53; VAL-58; GLU-67; ALA-80; SER-140 AND ILE-142;
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