UniProtKB/Swiss-Prot P01266: Variant p.His1043Tyr

Thyroglobulin
Gene: TG
Chromosomal location: 8q24.3
Variant information

Variant position:  1043
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Histidine (H) to Tyrosine (Y) at position 1043 (H1043Y, p.His1043Tyr).
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:  Change from medium size and polar (H) to large size and aromatic (Y)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  2
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

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  1043
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  2768
The length of the canonical sequence.

Location on the sequence:   RSGPYMPQCDAFGSWEPVQC  H AGTGHCWCVDEKGGFIPGSL
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                         RSGPYMPQCDAFGSWEPVQCHAGTGHCWCVDEKGGFIPGSL

Mouse                         WSGPYMPQCNMIGGWEPVQCHAGTGQCWCVDGRGEFIPGSL

Rat                           WSGPYMPQCNTIGGWEPVQCHPGTGQCWCVDGWGELIPGSL

Bovine                        WSSAYLPQCDAFGGWEPVQCHAATGHCWCVDGKGEYVPTSL

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.

TypePositionsDescription
Chain 20 – 2768 Thyroglobulin
Domain 922 – 1073 Thyroglobulin type-1 8
Disulfide bond 1042 – 1049


Literature citations

Primary structure of human thyroglobulin deduced from the sequence of its 8448-base complementary DNA.
Malthiery Y.; Lissitzky S.;
Eur. J. Biochem. 165:491-498(1987)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS ASP-604; ASP-653; GLN-985 DEL; TYR-1043; THR-1059; GLY-1312; ARG-1437; HIS-1463; THR-1936; GLU-2091; LEU-2149; ARG-2170 AND HIS-2242;

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 TDH3 ARG-1264 AND SER-1996; VARIANTS HIS-135; ASP-604; ASP-653; ALA-734; GLU-830; GLN-985 DEL; VAL-1028; TYR-1043; THR-1059; ARG-1437; HIS-1463; ASN-1838; THR-1936; TRP-1999; GLU-2091; LEU-2149; ARG-2170; HIS-2242; ARG-2501 AND GLN-2530;

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.