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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P01266: Variant p.Cys1996Ser

Thyroglobulin
Gene: TG
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Variant information Variant position: help 1996 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 Cysteine (C) to Serine (S) at position 1996 (C1996S, p.Cys1996Ser). 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 medium size and polar (C) to small size and polar (S) 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 TDH3; autosomal recessive. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 1996 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 ISIRNKVPMSEKSISNGFFE C ERRCDADPCCTGFGFLNVSQ 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                         ISIRNKVPMSEKSISNGFFECERRCDADPCCTGFGFLNVSQ

Mouse                         ISIRDKVPMSGKLISNGFFECERLCDRDPCCTGFGFLNVSQ

Rat                           ISIRDRIPMSEKLISNGFFECERLCDRDPCCTGFGFLNVSQ

Pig                           LSIRHKVPMADKAISSGFFECERLCDVDPCCTGFGFLNVSQ

Bovine                        ISIRNKVPMSDKSISSGFFECERLCDMDPCCTGFGFLNVSQ

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
Repeat 1996 – 2129 Type IIIB
Glycosylation 2013 – 2013 N-linked (GlcNAc...) asparagine
Disulfide bond 1996 – 2024
Helix 1989 – 2002



Literature citations
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;
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.