IthaID: 944


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 41 TTC>TAC HGVS Name: HBB:c.125T>A
Hb Name: Hb Mequon Protein Info: β 41(C7) Phe>Tyr

Context nucleotide sequence:
GTGGTCTACCCTTGGACCCAGAGGT [A/C/G/T] CTTTGAGTCCTTTGGGGATCTGTCC (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRYFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

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: Unstable
Oxygen Affinity: N/A
Associated Phenotypes: N/A

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70849
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: English | Irish
Molecular mechanism: Altered heme pocket
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Publications / Origin

  1. Burkert LB, Sharma VS, Pisciotta AV, Ranney HM, Bruckheimer S, Hemoglobin M equon beta 41 (C7) phenylalanine leads to tyrosine., Blood, 48(5), 645-51, 1976
Created on 2010-06-16 16:13:16, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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