Variant position: 55 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 KVLDAVRGSPAINVAVHVFR KAADDTWEPFASGKTSESGEL
Chimpanzee KVLDAVRGSPAINVAVHVFK KAADETWEPFASGKTSESGEL
Mouse KVLDAVRGSPAVDVAVKVFK KTSEGSWEPFASGKTAESGEL
Rat KVLDAVRGSPAVDVAVKVFK KTADGSWEPFASGKTAESGEL
Pig KVLDAVRGSPAVNVGVKVFK KAADGTWEPFALGKTSEFGEL
Bovine KVLDAVRGSPAANVGVKVFK KAADETWEPFASGKTSESGEL
Rabbit KVLDAVRGSPAVDVSVHVFK KAADETWEPFASGKTSKTGEL
Sheep KVLDAVRGSPAANVGVKVFK KAADETWEPFASGKTSDSGEL
Chicken KVLDAVRGSPAANVAVKVFK KAADGTWQDFATGKTTEFGEI
Xenopus laevis KVLDAVRGIPAANLLVNVFR QTESGKWEQITSGKTTELGEI
Xenopus tropicalis KVLDAVRGIPAANLLVQVFR NT-EGNWELISSGKTTELGEI
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
35 – 35 Thyroid hormones
74 – 74 Thyroid hormones
62 – 62 4-carboxyglutamate; in a patient with Moyamoya disease
72 – 72 Phosphoserine
49 – 55
Transthyretin gene analysis in European patients with suspected familial amyloid polyneuropathy.
Reilly M.M.; Adams D.; Booth D.R.; Davis M.B.; Said G.; Laubriat-Bianchin M.; Pepys M.B.; Thomas P.K.; Harding A.E.;
Cited for: VARIANTS AMYL-TTR MET-50; ASN-55; ALA-69; ARG-70; ALA-80; TYR-97 AND GLN-109;
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.