IthaID: 915

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 32 CTG>CGG [Leu>Arg] HGVS Name: HBB:c.98T>G
Hb Name: Hb Castilla Protein Info: β 32(B14) Leu>Arg

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: 70822
Size: 1 bp
Located at: β
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Asian Indian | Spanish
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Garel MC, Blouquit Y, Rosa J, Arous N, Romero Garcia C, Hemoglobin Castilla beta 32 (B14) Leu leads to Arg; a new unstable variant producing severe hemolytic disease., FEBS Lett. , 58(1), 144-8, 1975 PubMed
  2. Thillet J, Garel MC, Bierme R, Rosa J, Oxidation properties of two hemoglobin variants with their mutation localized in the heme pocket: Hb Castilla beta 32 (B14) Leu replaced by Arg and Hb Toulouse beta 66 (E10) Lys replaced by Glu, and abnormal functional properties of Hb Castilla., Biochim. Biophys. Acta , 624(1), 293-303, 1980 PubMed
  3. Walker L, McFarlane A, Patterson M, Eng B, Waye JS, Hb Castilla [beta32(B14)Leu --> Arg] caused by a de novo mutation., Hemoglobin, 27(4), 253-6, 2003 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2016-08-24 13:28:28 (Show full history)

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