Variant position: 144 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 RYTIAALLSPYSYSTTAVVT NPKE---
Chimpanzee RYTIAALLSPYSYSTTAVVT IPKE
Mouse HYTIAALLSPYSYSTTAVVS NPQN
Rat HYTIAALLSPYSYSTTAVVS NPQN
Pig HYTIAALLSPYSYSTTALVS SPKE
Bovine HYTIAALLSPYSYSTTALVS SPKA
Rabbit SYTIAALLSPFSYSTTAVVS NPQE
Sheep HYTIAALLSPYSYSTTALVS SPKE
Chicken HYTIAALLSPFSYSTTAVVS DPQE
Xenopus laevis HYTIAVLLTPYSFSSTAIVS EPHD
Xenopus tropicalis HYTIAVLLTPYSISSTAVVS EPHD
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.
A novel type of familial transthyretin amyloidosis, ATTR Asn124Ser, with co-localization of kappa light chains.
Bergstroem J.; Patrosso M.C.; Colussi G.; Salvadore M.; Penco S.; Lando G.; Marocchi A.; Ueda A.; Nakamura M.; Ando Y.;
Cited for: VARIANT AMYL-TTR SER-144;
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