IthaID: 1252

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 131 CAG>AAG HGVS Name: HBB:c.394C>A
Hb Name: Hb Shelby Protein Info: β 131(H9) Gln>Lys

Context nucleotide sequence:

Protein sequence:

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.


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


Chromosome: 11
Locus: NG_000007.3
Locus Location: 71968
Size: 1 bp
Located at: β
Specific Location: Exon 3

Other details

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


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ID Hb Variant Gene Instrument Method Area (%) Ret Time (min) Comments
473Hb ShelbyβD-10Dual Kit Program5.83.1heterozygote[PDF]
470Hb ShelbyβD-10Dual Kit Program11.73.06Compound heterozygous Hb Shelby / Beta zero Thalassemia. [PDF]
474Hb ShelbyβVARIANTβ-thal Short Program3.93.62heterozygote[PDF]
471Hb ShelbyβVARIANTβ-thal Short Program10.63.61Compound heterozygous Hb Shelby / Beta zero Thalassemia. [PDF]
476Hb ShelbyβVARIANT IIDual Kit Program3.92.979heterozygote[PDF]
475Hb ShelbyβVARIANT IIβ-thal Short Program4.43.66heterozygote[PDF]
472Hb ShelbyβVARIANT IIDual Kit Program12.22.968Compound heterozygous Hb Shelby / Beta zero Thalassemia. [PDF]
44Hb ShelbyβVARIANT IIDual Kit Program73.64.74Compound heterozygote between Hb Shelby and beta (0) Thal.[PDF]

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Lutcher CL, Wilson JB, Gravely ME, Stevens PD, Chen CJ, Lindeman JG, Wong SC, Miller A, Gottleib M, Huisman TH, Hb Leslie, an unstable hemoglobin due to deletion of glutaminyl residue beta 131 (H9) occurring in association with beta0-thalassemia, HbC, and HbS., Blood, 47(1), 99-112, 1976 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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