IthaID: 902


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 28 CTG>CAG HGVS Name: HBB:c.86T>A
Hb Name: Hb Saint Louis Protein Info: β 28(B10) Leu>Gln

Context nucleotide sequence:
GTGGATGAAGTTGGTGGTGAGGCCC [A/C/G/T] GGGCAGGTTGGTATCAAGGTTACAA (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEAQGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

External Links

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-chain variant
Allele Phenotype:N/A
Stability: Unstable
Oxygen Affinity: Increased Oxygen Affinity
Associated Phenotypes: Haemolytic anaemia [HP:0001878]

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70680
Size: 1 bp
Located at: β
Specific Location: Exon 1

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: French, Slovakian, Yugoslavian, Indian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Publications / Origin

  1. Cohen-Solal M, Seligmann M, Thillet J, Rosa J, Haemoglobin Saint Louis beta28 (B10) leucine leads to glutamine. A new unstable haemoglobin only present in a ferri form., FEBS letters, 33(1), 37-41, 1973
  2. Colah RB, Nadkarni A, Gorakshakar A, Sawant P, Gorivale M, Mehta P, Sawant M, Ghosh K, Five Rare β Globin Chain Hemoglobin Variants in India., Indian J Hematol Blood Transfus , 32(0), 282-6, 2016
Created on 2010-06-16 16:13:16, Last reviewed on 2016-09-06 15:23:35 (Show full history)

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