IthaID: 1195



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 116 (+GTGTGCTGGCCC) HGVS Name: HBB:c.349_350insGTGTGCTGGCCC
Hb Name: Hb Antibes-Juan-Les-Pins Protein Info: β 116(G18) His->0 AND Arg-Val-Leu-Ala-His- inserted between 115(G17) and 117(G19) of β

Context nucleotide sequence:
AACGTGCTGGTCTGTGTGCTGGCCC [-/GTGTGCTG] ATCACTTTGGCAAAGAATTCACCCC (Strand: -)

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71923
Size: 1 bp
Located at: β
Specific Location: Exon 3

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-chain variant
Allele Phenotype:N/A
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A

Other details

Type of Mutation: Point-Mutation(Insertion)
Effect on Gene/Protein Function: N/A
Ethnic Origin: French
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

Publications / Origin

  1. Lacan P, Becchi M, Zanella-Cleon I, Aubry M, Quinsat D, Couprie N, Francina A, Identification by mass spectrometry of a hemoglobin variant with an elongated beta-globin chain., Clinical chemistry, 51(1), 213-5, 2005 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:00:14 (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.

Please publish modules in offcanvas position.