Variant position: 58 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 DAVRGSPAINVAVHVFRKAA DDTWEPFASGKTSESGELHGL
Chimpanzee DAVRGSPAINVAVHVFKKAA DETWEPFASGKTSESGELHGL
Mouse DAVRGSPAVDVAVKVFKKTS EGSWEPFASGKTAESGELHGL
Rat DAVRGSPAVDVAVKVFKKTA DGSWEPFASGKTAESGELHGL
Pig DAVRGSPAVNVGVKVFKKAA DGTWEPFALGKTSEFGELHGL
Bovine DAVRGSPAANVGVKVFKKAA DETWEPFASGKTSESGELHGL
Rabbit DAVRGSPAVDVSVHVFKKAA DETWEPFASGKTSKTGELHGL
Sheep DAVRGSPAANVGVKVFKKAA DETWEPFASGKTSDSGELHGL
Chicken DAVRGSPAANVAVKVFKKAA DGTWQDFATGKTTEFGEIHEL
Xenopus laevis DAVRGIPAANLLVNVFRQTE SGKWEQITSGKTTELGEIHNL
Xenopus tropicalis DAVRGIPAANLLVQVFRNT- EGNWELISSGKTTELGEIHNI
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
57 – 59
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;
Familial amyloidosis in a large Spanish kindred resulting from a D38V mutation in the transthyretin gene.
Augustin S.; Llige D.; Andreu A.; Gonzalez A.; Genesca J.;
Eur. J. Clin. Invest. 37:673-678(2007)
Cited for: VARIANT AMYL-TTR VAL-58;
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.