Variant position: 109 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 YKVEIDTKSYWKALGISPFH EHAEVVFTANDSGPRRYTIAA
Chimpanzee YKVEIDTKSYWKALGISPFH EHAEVVFTANDSGPRRYTIAA
Mouse YRVELDTKSYWKTLGISPFH EFADVVFTANDSGHRHYTIAA
Rat YRVELDTKSYWKALGISPFH EYAEVVFTANDSGHRHYTIAA
Pig YKVELDTKSYWKALGISPFH EYAEVVFTANDSGRRHYTIAA
Bovine YKVELDTKSYWKSLGISPFH EFAEVVFTANDSGPRHYTIAA
Rabbit YKVELDTKSYWKALGISPFH EYAEVVFTANDSGHRSYTIAA
Sheep YKVELDTKSYWKSLGISPFH EYAEVVFTANDSGLRHYTIAA
Chicken YRVEFDTSSYWKGLGLSPFH EYADVVFTANDSGHRHYTIAA
Xenopus laevis YKIEFATKAFWGKLGLSPFH EYVDVVFTANDAGHRHYTIAV
Xenopus tropicalis YKIEFATKTFWRKLGLSPFH EYVDVVFSANDAGHRHYTIAV
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
118 – 118 N-linked (GlcNAc...) asparagine
107 – 107 F -> M. Loss of tetramerization; when associated with M-130.
107 – 118
Two transthyretin variants (TTR Ala-49 and TTR Gln-89) in two Sicilian kindreds with hereditary amyloidosis.
Almeida M.R.; Ferlini A.; Forabosco A.; Gawinowicz M.A.; Costa P.P.; Salvi F.; Plasmati R.; Tassinari C.A.; Altland K.; Saraiva M.J.;
Hum. Mutat. 1:211-215(1992)
Cited for: VARIANTS AMYL-TTR ALA-69 AND GLN-109;
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;
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