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.
Disulfide-bond formation in the transthyretin mutant Y114C prevents amyloid fibril formation in vivo and in vitro.
Eneqvist T.; Olofsson A.; Ando Y.; Miyakawa T.; Katsuragi S.; Jass J.; Lundgren E.; Sauer-Eriksson A.E.;
Cited for: X-RAY CRYSTALLOGRAPHY (2.0 ANGSTROMS) OF 21-147 OF VARIANT AMYL-TTR CYS-134;
Cys114-linked dimers of transthyretin are compatible with amyloid formation.
Karlsson A.; Olofsson A.; Eneqvist T.; Sauer-Eriksson A.E.;
Cited for: X-RAY CRYSTALLOGRAPHY (1.7 ANGSTROMS) OF 21-147 OF VARIANT AMYL-TTR CYS-134;
A novel variant of transthyretin (Tyr114 to Cys) deduced from the nucleotide sequences of gene fragments from familial amyloidotic polyneuropathy in Japanese sibling cases.
Ueno S.; Uemichi T.; Yorifuji S.; Tarui S.;
Biochem. Biophys. Res. Commun. 169:143-147(1990)
Cited for: VARIANT AMYL-TTR CYS-134;
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.