IthaID: 3359


Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 13 GCC>ACC [Ala>Thr] HGVS Name: HBB:c.40G>A
Hb Name: Hb Tower Hamlets Protein Info: N/A

Context nucleotide sequence:
CCTGAGGAGAAGTCTGCCGTTACT [G/A] CCCTGTGGGGCAAGGTGAACGTGGAT (Strand: -)

Protein sequence:
MVHLTPEEKSAVTTLWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Comments: Co-inherited with beta plus thalassaemia mutation. Runs with Hb A on HPLC (Biorad VNBS) and IEF. Detected via newborn screening with MSMS.

External Links

No available links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70634
Size: 1 bp
Located at: β
Specific Location: Exon 1

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(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Bangladeshi/Pakistani
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Unknown

Publications / Origin

To the best of our knowledge, this is unpublished data. Please use with caution!

Microattributions

A/AContributor(s)DateComments
1Daniel, Yvonne2019-01-17First report.
2Monteiro, Daniel2019-01-17First report.
Created on 2019-03-27 17:00:17, Last reviewed on (Show full history)

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