IthaID: 2400


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 7 GAG>CAG [Glu>Gln] HGVS Name: HBB:c.22G>C
Hb Name: Hb Vellore Protein Info: β 7(A4) Glu>Gln

Context nucleotide sequence:
CACCATGGTGCATCTGACTCCTGAG [A/C/G] AGAAGTCTGCCGTTACTGCCCTGTG (Strand: -)

Also known as: Hb Bellevue III

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70616
Size: 1 bp
Located at: β
Specific Location: Exon 1

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: African-American
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Publications / Origin

  1. Edison ES, Sathya M, Rajkumar SV, Nair SC, Srivastava A, Shaji RV, A novel β-globin gene mutation HBB.c.22 G>C produces a hemoglobin variant (Hb Vellore) mimicking HbS in HPLC., Int J Lab Hematol , 34(5), 556-8, 2012
Created on 2014-05-27 10:42:31, Last reviewed on (Show full history)

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