Variant position: 40 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 AG-PT----GTGESKCPLMVKVLDA VRGSPAINVAVHVFRKAADDT
Chimpanzee AG-PT----GTGESKCPLMVKVLDA VRGSPAINVAVHVFKK
Mouse AG-PA----GAGESKCPLMVKVLDA VRGSPAVDVAVKVFKK
Rat AG-PG----GAGESKCPLMVKVLDA VRGSPAVDVAVKVFKK
Pig AG-PA----GAGESKCPLMVKVLDA VRGSPAVNVGVKVFKK
Bovine AG-SV----GAGEPKCPLMVKVLDA VRGSPAANVGVKVFKK
Rabbit -G-PV----GTGDSKCPLMVKVLDA VRGSPAVDVSVHVFKK
Sheep AS-PA----GAGESKCPLMVKVLDA VRGSPAANVGVKVFKK
Chicken AA-PL-VSHGSVDSKCPLMVKVLDA VRGSPAANVAVKVFKK
Xenopus laevis AAPPGHASHGEADSKCPLMVKVLDA VRGIPAANLLVNVFRQ
Xenopus tropicalis AA-PGHVSHGEADSKCPLMVKVLDA VRGIPAANLLVQVFRN
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.
Transthyretin ILE20, a new variant associated with late-onset cardiac amyloidosis.
Jacobson D.R.; Pan T.; Kyle R.A.; Buxbaum J.N.;
Hum. Mutat. 9:83-85(1997)
Cited for: VARIANT AMYL-TTR ILE-40;
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.