Variant position: 93 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 GELHGLTTEEEFVEGIYKVE IDTKSYWKALGISPFHEHAEV
Chimpanzee GELHGLTTEEEFVEGIYKVE IDTKSYWKALGISPFHEHAEV
Mouse GELHGLTTDEKFVEGVYRVE LDTKSYWKTLGISPFHEFADV
Rat GELHGLTTDEKFTEGVYRVE LDTKSYWKALGISPFHEYAEV
Pig GELHGLTTDEKFVEGIYKVE LDTKSYWKALGISPFHEYAEV
Bovine GELHGLTTEDKFVEGLYKVE LDTKSYWKSLGISPFHEFAEV
Rabbit GELHGLTTSEKFVEGVYKVE LDTKSYWKALGISPFHEYAEV
Sheep GELHGLTTEDKFVEGLYKVE LDTKSYWKSLGISPFHEYAEV
Chicken GEIHELTTEEQFVEGVYRVE FDTSSYWKGLGLSPFHEYADV
Xenopus laevis GEIHNLTTDEQFTEGVYKIE FATKAFWGKLGLSPFHEYVDV
Xenopus tropicalis GEIHNIITDEQFTEGVYKIE FATKTFWRKLGLSPFHEYVDV
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
107 – 107 F -> M. Loss of tetramerization; when associated with M-130.
86 – 93
Transthyretin Ile73Val is associated with familial amyloidotic polyneuropathy in a Bangladeshi family.
Booth D.R.; Gillmore J.D.; Persey M.R.; Booth S.E.; Cafferty K.D.; Tennent G.A.; Madhoo S.; Cochrane S.W.; Whitehead T.C.; Pasvol G.; Hawkins P.N.;
Hum. Mutat. 12:135-135(1998)
Cited for: VARIANT AMYL-TTR VAL-93;
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.