IthaID: 3876



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 96 CTG>CGG [Leu>Arg] HGVS Name: HBB:c.290T>G
Hb Name: Hb Laibin Protein Info: β 96(FG3) Leu>Arg

Context nucleotide sequence:
CTGAGTGAGCTGCACTGTGACAAGC [T/G] GCACGTGGATCCTGAGAACTTCAGG (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKAHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

Comments: Found in a 29-year-old Chinese male presented with normal hematological indices (Hb 17.5 g/dL, MCV 91.3 fL, MCH 29.6 pg, RBC 5.92×1012/L). HbX and HbF cannot be separated using capillary 2 Flex Piercing device, and both located in Zone 7. The results shown HbA 64.5%, HbF + HbX 32.3% and HbA2 3.2%.

External Links

No available links

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71014
Size: 1 bp
Located at: β
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Chinese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

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. Huang YY, Huang J, Ye LH, Liang L, Li YQ, Hb Laibin [β96(FG3)Leu→Arg; : c.290T>G]: A Novel Hemoglobin Variant Described in a Chinese Family., Hemoglobin, 2022 PubMed

Microattributions

A/AContributor(s)DateComments
1Li, Youqiong2021-11-12First report.
Created on 2021-12-15 13:05:33, Last reviewed on 2022-06-09 08:59:40 (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.