Variant position: 134 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 VFTANDSGPRRYTIAALLSP YSYSTTAVVTNPKE---
Chimpanzee VFTANDSGPRRYTIAALLSP YSYSTTAVVTIPKE
Mouse VFTANDSGHRHYTIAALLSP YSYSTTAVVSNPQN
Rat VFTANDSGHRHYTIAALLSP YSYSTTAVVSNPQN
Pig VFTANDSGRRHYTIAALLSP YSYSTTALVSSPKE
Bovine VFTANDSGPRHYTIAALLSP YSYSTTALVSSPKA
Rabbit VFTANDSGHRSYTIAALLSP FSYSTTAVVSNPQE
Sheep VFTANDSGLRHYTIAALLSP YSYSTTALVSSPKE
Chicken VFTANDSGHRHYTIAALLSP FSYSTTAVVSDPQE
Xenopus laevis VFTANDAGHRHYTIAVLLTP YSFSSTAIVSEPHD
Xenopus tropicalis VFSANDAGHRHYTIAVLLTP YSISSTAVVSEPHD
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
118 – 118 N-linked (GlcNAc...) asparagine
130 – 130 L -> M. Loss of tetramerization; when associated with M-107.
Familial carpal tunnel syndrome due to amyloidogenic transthyretin His 114 variant.
Murakami T.; Tachibana S.; Endo Y.; Kawai R.; Hara M.; Tanase S.; Ando M.;
Cited for: VARIANT CTS1 HIS-134;
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