UniProtKB/Swiss-Prot P01266: Variant p.Pro2149Leu

Thyroglobulin
Gene: TG
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Variant information Variant position:

2149 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B 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:

From Proline (P) to Leucine (L) at position 2149 (P2149L, p.Pro2149Leu). 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:

Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-3 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.

Variant rs2069564 [ dbSNP | Ensembl ]

Sequence information Variant position:

2149 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:

LCLSECSQHEACLITTLQTQ P GAVRCMFYADTQSCTHSLQG 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                         LCLSECSQHEACLITTLQTQPGAVRCMFYADTQSCTHSLQG

Mouse                         FCLQQCSRHQDCLVTTLQIQPGVVRCVFYPDIQNCIHSLRS

Rat                           FCLQECSRHQDCLVTTLQIQQGVVRCVFYPDIQSCEHSLRS

Pig                           RCLLECSRHQACLVTTLQTRPGAVRCMFYADTQSCTHSLQA

Bovine                        RCLWECSRHQDCLVTTLQTQPGAVRCMFYADTQSCTHSLQA

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
Chain	20 – 2768	Thyroglobulin
Repeat	2130 – 2187	Type IIIA
Disulfide bond	2130 – 2154
Beta strand	2149 – 2157

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; Genomic organization of the 3' region of the human thyroglobulin gene.
Mendive F.M.; Rivolta C.M.; Vassart G.; Targovnik H.M.;
Thyroid 9:903-912(1999)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1645-2768; VARIANTS LEU-2149 AND ARG-2170; 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.