Variant position: 142 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 PRRYTIAALLSPYSYSTTAV VTNPKE---
Chimpanzee PRRYTIAALLSPYSYSTTAV VTIPKE
Mouse HRHYTIAALLSPYSYSTTAV VSNPQN
Rat HRHYTIAALLSPYSYSTTAV VSNPQN
Pig RRHYTIAALLSPYSYSTTAL VSSPKE
Bovine PRHYTIAALLSPYSYSTTAL VSSPKA
Rabbit HRSYTIAALLSPFSYSTTAV VSNPQE
Sheep LRHYTIAALLSPYSYSTTAL VSSPKE
Chicken HRHYTIAALLSPFSYSTTAV VSDPQE
Xenopus laevis HRHYTIAVLLTPYSFSSTAI VSEPHD
Xenopus tropicalis HRHYTIAVLLTPYSISSTAV VSEPHD
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
Evidence that the amyloid fibril protein in senile systemic amyloidosis is derived from normal prealbumin.
Cornwell G.G. III; Sletten K.; Johansson B.; Westermark P.;
Biochem. Biophys. Res. Commun. 154:648-653(1988)
Cited for: PROTEIN SEQUENCE OF 21-147; VARIANT AMYL-TTR ILE-142;
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;
Genetic microheterogeneity of human transthyretin detected by IEF.
Altland K.; Benson M.D.; Costello C.E.; Ferlini A.; Hazenberg B.P.C.; Hund E.; Kristen A.V.; Linke R.P.; Merlini G.; Salvi F.; Saraiva M.J.; Singer R.; Skinner M.; Winter P.;
Cited for: VARIANTS AMYL-TTR PRO-32; ILE-40; SER-44; ALA-50; MET-50; LEU-53; VAL-53; PRO-56; THR-65; ALA-67; ALA-69; ILE-69; ALA-80; LEU-84; LEU-88; ALA-91; TYR-97; PHE-98; SER-104; ASN-104; THR-104; ALA-114; GLY-117; ASN-126; MET-127; VAL-127; MET-131 AND ILE-142; VARIANTS ILE-33; SER-121 AND THR-129; VARIANT CHICAGO MET-139;
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.