IthaID: 1020


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 66 AAA>AAT HGVS Name: HBB:c.201A>T
Hb Name: Hb Ulm Protein Info: β 66(E10) Lys>Asn

Context nucleotide sequence:
CTAAGGTGAAGGCTCATGGCAAGAA [A/G/T] GTGCTCGGTGCCTTTAGTGATGGCC (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKNVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

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: Decreased Oxygen Affinity
Associated Phenotypes: N/A

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70925
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: German
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Publications / Origin

  1. Friess U, Beck A, Kohne E, Lehmann R, Koch S, Haring HU, Schmuelling RM, Schleicher E, Novel hemoglobin variant [beta66(E10) Lys-->Asn], with decreased oxygen affinity, causes falsely low hemoglobin A1c values by HPLC., Clinical chemistry, 49(8), 1412-5, 2003
Created on 2010-06-16 16:13:16, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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