Variant position: 89 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 TSESGELHGLTTEEEFVEGI YKVEIDTKSYWKALGISPFHE
Chimpanzee TSESGELHGLTTEEEFVEGI YKVEIDTKSYWKALGISPFHE
Mouse TAESGELHGLTTDEKFVEGV YRVELDTKSYWKTLGISPFHE
Rat TAESGELHGLTTDEKFTEGV YRVELDTKSYWKALGISPFHE
Pig TSEFGELHGLTTDEKFVEGI YKVELDTKSYWKALGISPFHE
Bovine TSESGELHGLTTEDKFVEGL YKVELDTKSYWKSLGISPFHE
Rabbit TSKTGELHGLTTSEKFVEGV YKVELDTKSYWKALGISPFHE
Sheep TSDSGELHGLTTEDKFVEGL YKVELDTKSYWKSLGISPFHE
Chicken TTEFGEIHELTTEEQFVEGV YRVEFDTSSYWKGLGLSPFHE
Xenopus laevis TTELGEIHNLTTDEQFTEGV YKIEFATKAFWGKLGLSPFHE
Xenopus tropicalis TTELGEIHNIITDEQFTEGV YKIEFATKTFWRKLGLSPFHE
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
74 – 74 Thyroid hormones
72 – 72 Phosphoserine
107 – 107 F -> M. Loss of tetramerization; when associated with M-130.
86 – 93
Oculoleptomeningeal amyloidosis in a large kindred with a new transthyretin variant Tyr69His.
Blevins G.; Macaulay R.; Harder S.; Fladeland D.; Yamashita T.; Yazaki M.; Hamidi Asl K.; Benson M.D.; Donat J.R.;
Cited for: VARIANT AMYL-TTR HIS-89;
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