IthaID: 861


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 19 AAC>GAC HGVS Name: HBB:c.58A>G
Hb Name: Hb Alamo Protein Info: β 19(B1) Asn>Asp

Context nucleotide sequence:
CGTTACTGCCCTGTGGGGCAAGGTG [A/G] ACGTGGATGAAGTTGGTGGTGAGGC (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVDVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

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: N/A
Associated Phenotypes: N/A

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70652
Size: 1 bp
Located at: β
Specific Location: Exon 1

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: No

In silico pathogenicity prediction

Publications / Origin

  1. Lam H, Wilson JB, Harris H, Gravely M, Huisman TH, Hemoglobin Alamo (alpha2beta2 19 (b1) Asn replaced by Asp)., Hemoglobin, 1(7), 703-6, 1977
Created on 2010-06-16 16:13:16, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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