Variant position: 64 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 PAINVAVHVFRKAADDTWEP FASGKTSESGELHGLTTEEEF
Chimpanzee PAINVAVHVFKKAADETWEP FASGKTSESGELHGLTTEEEF
Mouse PAVDVAVKVFKKTSEGSWEP FASGKTAESGELHGLTTDEKF
Rat PAVDVAVKVFKKTADGSWEP FASGKTAESGELHGLTTDEKF
Pig PAVNVGVKVFKKAADGTWEP FALGKTSEFGELHGLTTDEKF
Bovine PAANVGVKVFKKAADETWEP FASGKTSESGELHGLTTEDKF
Rabbit PAVDVSVHVFKKAADETWEP FASGKTSKTGELHGLTTSEKF
Sheep PAANVGVKVFKKAADETWEP FASGKTSDSGELHGLTTEDKF
Chicken PAANVAVKVFKKAADGTWQD FATGKTTEFGEIHELTTEEQF
Xenopus laevis PAANLLVNVFRQTESGKWEQ ITSGKTTELGEIHNLTTDEQF
Xenopus tropicalis PAANLLVQVFRNT-EGNWEL ISSGKTTELGEIHNIITDEQF
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
Transthyretin amyloidosis (serine 44) with headache, hearing loss, and peripheral neuropathy.
Klein C.J.; Nakumura M.; Jacobson D.R.; Lacy M.Q.; Benson M.D.; Petersen R.C.;
Cited for: VARIANT SER-64;
Characterization of transthyretin variants in familial transthyretin amyloidosis by mass spectrometric peptide mapping and DNA sequence analysis.
Lim A.; Prokaeva T.; McComb M.E.; O'Connor P.B.; Theberge R.; Connors L.H.; Skinner M.; Costello C.E.;
Anal. Chem. 74:741-751(2002)
Cited for: VARIANTS SER-26 AND MET-139; VARIANTS AMYL-TTR ALA-58; LEU-61; SER-64 AND LEU-84; 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.