Variant position: 70 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 VHVFRKAADDTWEPFASGKT SESGELHGLTTEEEFVEGIYK
Chimpanzee VHVFKKAADETWEPFASGKT SESGELHGLTTEEEFVEGIYK
Mouse VKVFKKTSEGSWEPFASGKT AESGELHGLTTDEKFVEGVYR
Rat VKVFKKTADGSWEPFASGKT AESGELHGLTTDEKFTEGVYR
Pig VKVFKKAADGTWEPFALGKT SEFGELHGLTTDEKFVEGIYK
Bovine VKVFKKAADETWEPFASGKT SESGELHGLTTEDKFVEGLYK
Rabbit VHVFKKAADETWEPFASGKT SKTGELHGLTTSEKFVEGVYK
Sheep VKVFKKAADETWEPFASGKT SDSGELHGLTTEDKFVEGLYK
Chicken VKVFKKAADGTWQDFATGKT TEFGEIHELTTEEQFVEGVYR
Xenopus laevis VNVFRQTESGKWEQITSGKT TELGEIHNLTTDEQFTEGVYK
Xenopus tropicalis VQVFRNT-EGNWELISSGKT TELGEIHNIITDEQFTEGVYK
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
62 – 62 4-carboxyglutamate; in a patient with Moyamoya disease
72 – 72 Phosphoserine
Two novel variants of transthyretin identified in Japanese cases with familial amyloidotic polyneuropathy: transthyretin (Glu42 to Gly) and transthyretin (Ser50 to Arg).
Ueno S.; Uemichi T.; Takahashi N.; Soga F.; Yorifuji S.; Tarui S.;
Biochem. Biophys. Res. Commun. 169:1117-1121(1990)
Cited for: VARIANTS AMYL-TTR GLY-62 AND ARG-70;
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;
Usefulness of MALDI/TOF mass spectrometry of immunoprecipitated serum variant transthyretin in the diagnosis of familial amyloid polyneuropathy.
Tachibana N.; Tokuda T.; Yoshida K.; Taketomi T.; Nakazato M.; Li Y.F.; Masuda Y.; Ikeda S.;
Cited for: VARIANTS AMYL-TTR LEU-50; VAL-53; ALA-58; ARG-70; GLY-117 AND SER-117; IDENTIFICATION BY MASS SPECTROMETRY;
Delayed diagnosis of transthyretin amyloidosis with a novel mutation (c.210T>A) in the transthyretin gene.
Dekmezian M.S.; Tschen J.A.; Cho-Vega J.H.;
J. Am. Acad. Dermatol. 68:E49-E51(2013)
Cited for: VARIANT AMYL-TTR ARG-70;
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