Variant position: 54 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 VKVLDAVRGSPAINVAVHVF RKAADDTWEPFASGKTSESGE
Chimpanzee VKVLDAVRGSPAINVAVHVF KKAADETWEPFASGKTSESGE
Mouse VKVLDAVRGSPAVDVAVKVF KKTSEGSWEPFASGKTAESGE
Rat VKVLDAVRGSPAVDVAVKVF KKTADGSWEPFASGKTAESGE
Pig VKVLDAVRGSPAVNVGVKVF KKAADGTWEPFALGKTSEFGE
Bovine VKVLDAVRGSPAANVGVKVF KKAADETWEPFASGKTSESGE
Rabbit VKVLDAVRGSPAVDVSVHVF KKAADETWEPFASGKTSKTGE
Sheep VKVLDAVRGSPAANVGVKVF KKAADETWEPFASGKTSDSGE
Chicken VKVLDAVRGSPAANVAVKVF KKAADGTWQDFATGKTTEFGE
Xenopus laevis VKVLDAVRGIPAANLLVNVF RQTESGKWEQITSGKTTELGE
Xenopus tropicalis VKVLDAVRGIPAANLLVQVF RNT-EGNWELISSGKTTELGE
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
Novel transthyretin missense mutation (Thr34) in an Italian family with hereditary amyloidosis.
Patrosso M.C.; Salvi F.; De Grandis D.; Vezzoni P.; Jacobson D.R.; Ferlini A.;
Am. J. Med. Genet. 77:135-138(1998)
Cited for: VARIANT AMYL-TTR THR-54;
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.