IthaID: 1181



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 111 GTC>GCC [Val>Ala] HGVS Name: HBB:c.335T>C
Hb Name: Hb Stanmore Protein Info: β 111(G13) Val>Ala

Context nucleotide sequence:
CCACAGCTCCTGGGCAACGTGCTGG [C/T] CTGTGTGCTGGCCCATCACTTTGGC (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLACVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Comments: Described as an unstable haemoglobin (Hb) with reduced oxygen affinity in a double heterozygote with β0-thalassaemia. Alteration of the α1β1 interface, favouring the formation of monomers with subsequent accumulation of free globin subunits. The change in side chain at β111 possibly disturbs the α1β1 contact at the adjacent site, β112 (G14). Positive heinz body test and increased isopropanol precipitability of the Hb. Detection of abnormal Hb variant by reversed-phase HPLC.

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71909
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: Unstable
Oxygen Affinity: Decreased Oxygen Affinity
Associated Phenotypes: Haemolytic anaemia [HP:0001878]

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Italian, Japanese
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Como PF, Wylie BR, Trent RJ, Bruce D, Volpato F, Wilkinson T, Kronenberg H, Holland RA, Tibben EA, A new unstable and low oxygen affinity hemoglobin variant: Hb Stanmore [beta 111(G13)Val----Ala], Hemoglobin, 15(1), 53-65, 1991 PubMed
  2. Thom CS, Dickson CF, Gell DA, Weiss MJ, Hemoglobin variants: biochemical properties and clinical correlates., Cold Spring Harb Perspect Med, 3(3), a011858, 2013 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2019-06-19 14:14:55 (Show full history)

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