Variant position: 67 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 NVAVHVFRKAADDTWEPFAS GKTSESGELHGLTTEEEFVEG
Chimpanzee NVAVHVFKKAADETWEPFAS GKTSESGELHGLTTEEEFVEG
Mouse DVAVKVFKKTSEGSWEPFAS GKTAESGELHGLTTDEKFVEG
Rat DVAVKVFKKTADGSWEPFAS GKTAESGELHGLTTDEKFTEG
Pig NVGVKVFKKAADGTWEPFAL GKTSEFGELHGLTTDEKFVEG
Bovine NVGVKVFKKAADETWEPFAS GKTSESGELHGLTTEDKFVEG
Rabbit DVSVHVFKKAADETWEPFAS GKTSKTGELHGLTTSEKFVEG
Sheep NVGVKVFKKAADETWEPFAS GKTSDSGELHGLTTEDKFVEG
Chicken NVAVKVFKKAADGTWQDFAT GKTTEFGEIHELTTEEQFVEG
Xenopus laevis NLLVNVFRQTESGKWEQITS GKTTELGEIHNLTTDEQFTEG
Xenopus tropicalis NLLVQVFRNT-EGNWELISS GKTTELGEIHNIITDEQFTEG
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
74 – 74 Thyroid hormones
62 – 62 4-carboxyglutamate; in a patient with Moyamoya disease
72 – 72 Phosphoserine
61 – 68
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;
Identification of transthyretin variants by sequential proteomic and genomic analysis.
Bergen H.R. III; Zeldenrust S.R.; Butz M.L.; Snow D.S.; Dyck P.J.; Dyck P.J.B.; Klein C.J.; O'Brien J.F.; Thibodeau S.N.; Muddiman D.C.;
Clin. Chem. 50:1544-1552(2004)
Cited for: VARIANTS SER-26; CYS-53 AND ALA-114; VARIANTS AMYL-TTR GLU-67; HIS-78; ALA-80 AND TYR-97; IDENTIFICATION BY MASS SPECTROMETRY;
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.