Variant position: 110 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 KVEIDTKSYWKALGISPFHE HAEVVFTANDSGPRRYTIAAL
Chimpanzee KVEIDTKSYWKALGISPFHE HAEVVFTANDSGPRRYTIAAL
Mouse RVELDTKSYWKTLGISPFHE FADVVFTANDSGHRHYTIAAL
Rat RVELDTKSYWKALGISPFHE YAEVVFTANDSGHRHYTIAAL
Pig KVELDTKSYWKALGISPFHE YAEVVFTANDSGRRHYTIAAL
Bovine KVELDTKSYWKSLGISPFHE FAEVVFTANDSGPRHYTIAAL
Rabbit KVELDTKSYWKALGISPFHE YAEVVFTANDSGHRSYTIAAL
Sheep KVELDTKSYWKSLGISPFHE YAEVVFTANDSGLRHYTIAAL
Chicken RVEFDTSSYWKGLGLSPFHE YADVVFTANDSGHRHYTIAAL
Xenopus laevis KIEFATKAFWGKLGLSPFHE YVDVVFTANDAGHRHYTIAVL
Xenopus tropicalis KIEFATKTFWRKLGLSPFHE YVDVVFSANDAGHRHYTIAVL
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.
130 – 130 L -> M. Loss of tetramerization; when associated with M-107.
107 – 118
Two transthyretin mutations (Glu42Gly, His90Asn) in an Italian family with amyloidosis.
Skare J.C.; Jones L.A.; Myles N.; Kane K.; Milunsky A.; Cohen A.S.; Skinner M.;
Clin. Genet. 45:281-284(1994)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 24-67; VARIANT AMYL-TTR GLY-62; VARIANT ASN-110;
A new transthyretin variant from a patient with familial amyloidotic polyneuropathy has asparagine substituted for histidine at position 90.
Skare J.C.; Milunsky J.M.; Milunsky A.; Skare I.B.; Cohen A.S.; Skinner M.;
Clin. Genet. 39:6-12(1991)
Cited for: VARIANT ASN-110;
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