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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P01266: Variant p.Ser734Ala

Thyroglobulin
Gene: TG
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Variant information Variant position: help 734 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Serine (S) to Alanine (A) at position 734 (S734A, p.Ser734Ala). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from small size and polar (S) to small size and hydrophobic (A) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 1 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In AITD3; benign. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 734 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 2768 The length of the canonical sequence.
Location on the sequence: help PGTRSAIGKPKKCPTPCQLQ S EQAFLRTVQALLSNSSMLPT 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         PGTRSAIGKPKKCPTPCQLQSEQAFLRTVQALLSNSSMLPT

Mouse                         PGTQSTVGEAKQCPSVCQLQAEQAFLGVVGVLLSNSSMVPS

Rat                           PGTQSTIGEPKLCPSVCQLQAEQAFLGVVGVLLSNSSMVPP

Pig                           PGTRTAPGEPKQCPTPCQLQAEQAFLGTVRGLISNPSEPPV

Bovine                        PGTRSALGEPKKCPSPCQLQAERAFLGTVRTLVSNPSTLPA
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 20 – 2768 Thyroglobulin
Domain 727 – 921 Thyroglobulin type-1 7
Glycosylation 748 – 748 N-linked (GlcNAc...) asparagine
Disulfide bond 730 – 763
Helix 729 – 745



Literature citations
Structural organization of the 5' region of the thyroglobulin gene. Evidence for intron loss and 'exonization' during evolution.
Parma J.; Christophe D.; Pohl V.; Vassart G.;
J. Mol. Biol. 196:769-779(1987)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-415; 640-737 AND 880-1000; VARIANT ALA-734; Two novel cysteine substitutions (C1263R and C1995S) of thyroglobulin cause a defect in intracellular transport of thyroglobulin in patients with congenital goiter and the variant type of adenomatous goiter.
Hishinuma A.; Takamatsu J.; Ohyama Y.; Yokozawa T.; Kanno Y.; Kuma K.; Yoshida S.; Matsuura N.; Ieiri T.;
J. Clin. Endocrinol. Metab. 84:1438-1444(1999)
Cited for: VARIANTS AITD3 ALA-734 AND VAL-1028; VARIANTS TDH3 ARG-1264; SER-1996 AND TRP-1999; VARIANTS HIS-135; ASP-604; ASP-653; GLU-830; GLN-985 DEL; TYR-1043; THR-1059; ARG-1437; HIS-1463; ASN-1838; THR-1936; GLU-2091; LEU-2149; ARG-2170; HIS-2242; ARG-2501 AND GLN-2530; Amino acid substitutions in the thyroglobulin gene are associated with susceptibility to human and murine autoimmune thyroid disease.
Ban Y.; Greenberg D.A.; Concepcion E.; Skrabanek L.; Villanueva R.; Tomer Y.;
Proc. Natl. Acad. Sci. U.S.A. 100:15119-15124(2003)
Cited for: VARIANTS AITD3 ALA-734; VAL-1028 AND TRP-1999; INVOLVEMENT IN AITD3;
Disclaimer: 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.