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UniProtKB/Swiss-Prot Q14520: Variant p.Gly534Glu

Hyaluronan-binding protein 2
Gene: HABP2
Chromosomal location: 10q25.3
Variant information

Variant position:  534
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 Glycine (G) to Glutamate (E) at position 534 (G534E, p.Gly534Glu).
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 glycine (G) to medium size and acidic (E)
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:  Thyroid cancer, non-medullary, 5 (NMTC5) [MIM:616535]: A form of non-medullary thyroid cancer (NMTC), a cancer characterized by tumors originating from the thyroid follicular cells. NMTCs represent approximately 95% of all cases of thyroid cancer and are classified into papillary, follicular, Hurthle cell, and anaplastic neoplasms. {ECO:0000269|PubMed:12578864, ECO:0000269|PubMed:26222560}. Note=Disease susceptibility is associated with variations 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 NMTC5; associated with disease susceptibility; Marburg I polymorphism; could be a prominent risk predictor of carotid stenosis; impairs the pro-urokinase activating potency; increased cell migration and increased cell proliferation; dominant negative effect.
Any additional useful information about the variant.

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



Sequence information

Variant position:  534
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  560
The length of the canonical sequence.

Location on the sequence:   TCEKDGTYYVYGIVSWGLEC  G KRPGVYTQVTKFLNWIKATI
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                         TCEKDGTYYVYGIVSWGLECGKRPGVYTQVTKFLNWIKATI

Mouse                         TCEKDGTYYVYGIVSWGQECGKKPGVYTQVTKFLNWIKTTM

Rat                           TCEKDGTYYVYGIVSWGQECGKKPGVYTQVTKFLNWIKTTM

Bovine                        TCEKDGTSYIYGIVSWGLECGKRPGVYTQVTKFLTWIKATM

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 314 – 560 Hyaluronan-binding protein 2 27 kDa light chain
Chain 320 – 560 Hyaluronan-binding protein 2 27 kDa light chain alternate form
Domain 314 – 555 Peptidase S1


Literature citations

Submission
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS ILE-90 AND GLN-393; VARIANT NMTC5 GLU-534;

Marburg I polymorphism of factor VII-activating protease: a prominent risk predictor of carotid stenosis.
Willeit J.; Kiechl S.; Weimer T.; Mair A.; Santer P.; Wiedermann C.J.; Roemisch J.;
Circulation 107:667-670(2003)
Cited for: VARIANT GLN-393; VARIANT NMTC5 GLU-534;

Germline HABP2 mutation causing familial nonmedullary thyroid cancer.
Gara S.K.; Jia L.; Merino M.J.; Agarwal S.K.; Zhang L.; Cam M.; Patel D.; Kebebew E.;
N. Engl. J. Med. 373:448-455(2015)
Cited for: FUNCTION; INVOLVEMENT IN NMTC5; VARIANT NMTC5 GLU-534; CHARACTERIZATION OF VARIANT NMTC5 GLU-534;

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.