IthaID: 3007


Names and Sequences

Functionality: Neutral polymorphism
Common Name: CD 2 CAT>CAC [His>His] HGVS Name: HBB:c.9T>C

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Comments: Possibly a neutral polymorphism. Found in a heterozygous and homozygous state in healthy individuals from the Odisha State, India. No hematologic or phenotypic data reported [PMID: 24099628].

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70603
Size: 1 bp
Located at: β
Specific Location: Exon 1

Phenotype

Allele Phenotype:Neutral
Associated Phenotypes: N/A

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Indian
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Publications / Origin

  1. Sahoo SS, Biswal S, Dixit M, Distinctive mutation spectrum of the HBB gene in an urban eastern Indian population., Hemoglobin , 38(1), 33-8, 2014
Created on 2016-08-24 11:14:59, Last reviewed on 2019-05-31 12:28:00 (Show full history)

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