Sequence information
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:
VFTANDSGPRRYTIAALLSP
Y SYSTTAVVTNPKE
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 VFTANDSGPRRYTIAALLSPY SYSTTAVVTNPKE---
Chimpanzee VFTANDSGPRRYTIAALLSPY SYSTTAVVTIPKE
Mouse VFTANDSGHRHYTIAALLSPY SYSTTAVVSNPQN
Rat VFTANDSGHRHYTIAALLSPY SYSTTAVVSNPQN
Pig VFTANDSGRRHYTIAALLSPY SYSTTALVSSPKE
Bovine VFTANDSGPRHYTIAALLSPY SYSTTALVSSPKA
Rabbit VFTANDSGHRSYTIAALLSPF SYSTTAVVSNPQE
Sheep VFTANDSGLRHYTIAALLSPY SYSTTALVSSPKE
Chicken VFTANDSGHRHYTIAALLSPF SYSTTAVVSDPQE
Xenopus laevis VFTANDAGHRHYTIAVLLTPY SFSSTAIVSEPHD
Xenopus tropicalis VFSANDAGHRHYTIAVLLTPY SISSTAVVSEPHD
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
Chain
21 – 147
Transthyretin
Glycosylation
118 – 118
N-linked (GlcNAc...) asparagine
Mutagenesis
130 – 130
L -> M. Loss of tetramerization; when associated with M-107.
Literature citations
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.;
Neurology 44:315-318(1994)
Cited for: VARIANT CTS1 HIS-134;
Disclaimer:
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.