Home  |  Contact
Due to work on this service, it may not be fully operational on Wednesday March 20 between 1.30 pm and 2.30 pm CEST. Apologies for the inconvenience.

UniProtKB/Swiss-Prot Q06710: Variant p.Leu62Arg

Paired box protein Pax-8
Gene: PAX8
Chromosomal location: 2q12-q14
Variant information

Variant position:  62
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
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 Leucine (L) to Arginine (R) at position 62 (L62R, p.Leu62Arg).
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 hydrophobic (L) to large size and basic (R)
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

Involvement in disease:  Hypothyroidism, congenital, non-goitrous, 2 (CHNG2) [MIM:218700]: A disease characterized by thyroid dysgenesis, the most frequent cause of congenital hypothyroidism, accounting for 85% of case. The thyroid gland can be completely absent (athyreosis), ectopically located and/or severely hypoplastic. Ectopic thyroid gland is the most frequent malformation, with thyroid tissue being found most often at the base of the tongue. {ECO:0000269|PubMed:11232006, ECO:0000269|PubMed:11502839, ECO:0000269|PubMed:9590296}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In CHNG2; loss of activity.
Any additional useful information about the variant.

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



Sequence information

Variant position:  62
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  450
The length of the canonical sequence.

Location on the sequence:   VRPCDISRQLRVSHGCVSKI  L GRYYETGSIRPGVIGGSKPK
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                         VRPCDISRQLRVSHGCVSKILGRYYETGSIRPGVIGGSKPK

                              VRPCDISRQLRVSHGCVSKILGRYYETGSIRPGVIGGSKPK

Mouse                         VRPCDISRQLRVSHGCVSKILGRYYETGSIRPGVIGGSKPK

Rat                           VRPCDISRQLRVSHGCVSKILGRYYETGSIRPGVIGGSKPK

Xenopus laevis                VRPCDISRQLRVSHGCVSKILGRYYETGSIRPGVIGGSKPK

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 1 – 450 Paired box protein Pax-8
Domain 9 – 135 Paired
Helix 56 – 62


Literature citations

PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis.
Macchia P.E.; Lapi P.; Krude H.; Pirro M.T.; Missero C.; Chiovato L.; Souabni A.; Baserga M.; Tassi V.; Pinchera A.; Fenzi G.; Gruters A.; Busslinger M.; Di Lauro R.;
Nat. Genet. 19:83-86(1998)
Cited for: VARIANTS CHNG2 HIS-31 AND ARG-62;

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.