IthaID: 1154


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 102 AAC>AAA or AAG HGVS Name: HBB:c.309C>A | HBB:c.309C>G
Hb Name: Hb Richmond Protein Info: β 102(G4) Asn>Lys

Context nucleotide sequence:
ACAAGCTGCACGTGGATCCTGAGAA [A/C/G] TTCAGGGTGAGTCTATGGGACGCTT (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPEKFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

External Links

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71033
Size: 1 bp
Located at: β
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: African
Molecular mechanism: Altered α1β1 interface
Inheritance: Recessive
DNA Sequence Determined: No

Publications / Origin

  1. Efremov GD, Huisman TH, Smith LL, Wilson JB, Kitchens JL, Wrightstone RN, Adams HR, Hemoglobin Richmond, a human hemoglobin which forms asymmetric hybrids with other hemoglobins., The Journal of biological chemistry, 244(22), 6105-16, 1969
Created on 2010-06-16 16:13:16, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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