IthaID: 1299


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 143 CAC>CGC HGVS Name: HBB:c.431A>G
Hb Name: Hb Abruzzo Protein Info: β 143(H21) His>Arg

Context nucleotide sequence:
GCTGGTGTGGCTAATGCCCTGGCCC [A/C/G/T] CAAGTATCACTAAGCTCGCTTTCTT (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALARKYH

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 72005
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: American | Italian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

HPLC

Disclaimer: The HPLC images are provided as an information resource only. Bio-Rad Laboratories, Inc and the ITHANET Portal disclaim responsibility and have no liability if this information is used for diagnostic or treatment purposes. D-10™ and VARIANT™ are registered trademarks of Bio-Rad Laboratories, Inc. and used with permission. Redistribution and use of the above material is allowed only with permission by Bio-Rad Laboratories, Inc. To access HPLC images and reports for different variants, use the IthaChrom tool.
ID Hb Variant Gene Instrument Method Area (%) Ret Time (min) Comments
438Hb AbruzzoβD-10Dual Kit Program46.12.72Hb with increased oxygen affinity. [PDF]
439Hb AbruzzoβVARIANT IIβ-thal Short Program423.39Hb with increased oxygen affinity. [PDF]
440Hb AbruzzoβVARIANT IIDual Kit Program38.82.836Hb with increased oxygen affinity. [PDF]

In silico pathogenicity prediction

Publications / Origin

  1. Tentori L, Carta SORCINI M, Buccella C, Hemoglobin Abruzzo: beta 143 (H 21) His leads to Arg., Clinica chimica acta; international journal of clinical chemistry, 38(1), 258-62, 1972
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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