Variant position: 38 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 SEAG-PT----GTGESKCPLMVKVL DAVRGSPAINVAVHVFRKAAD
Chimpanzee SEAG-PT----GTGESKCPLMVKVL DAVRGSPAINVAVHVF
Mouse SEAG-PA----GAGESKCPLMVKVL DAVRGSPAVDVAVKVF
Rat SEAG-PG----GAGESKCPLMVKVL DAVRGSPAVDVAVKVF
Pig SEAG-PA----GAGESKCPLMVKVL DAVRGSPAVNVGVKVF
Bovine SEAG-SV----GAGEPKCPLMVKVL DAVRGSPAANVGVKVF
Rabbit ---G-PV----GTGDSKCPLMVKVL DAVRGSPAVDVSVHVF
Sheep SEAS-PA----GAGESKCPLMVKVL DAVRGSPAANVGVKVF
Chicken SEAA-PL-VSHGSVDSKCPLMVKVL DAVRGSPAANVAVKVF
Xenopus laevis SEAAPPGHASHGEADSKCPLMVKVL DAVRGIPAANLLVNVF
Xenopus tropicalis SEAA-PGHVSHGEADSKCPLMVKVL DAVRGIPAANLLVQVF
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
32 – 38
Cotranslational and posttranslational N-glycosylation of polypeptides by distinct mammalian OST isoforms.
Ruiz-Canada C.; Kelleher D.J.; Gilmore R.;
Cited for: GLYCOSYLATION AT ASN-118; CHARACTERIZATION OF VARIANT AMYL-TTR GLY-38;
Meningocerebrovascular amyloidosis associated with a novel transthyretin mis-sense mutation at codon 18 (TTRD 18G).
Vidal R.; Garzuly F.; Budka H.; Lalowski M.; Linke R.P.; Brittig F.; Frangione B.; Wisniewski T.;
Am. J. Pathol. 148:361-366(1996)
Cited for: VARIANT AMYL-TTR GLY-38;
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.