IthaID: 2544



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 40 AGG>ACG [Arg>Thr] HGVS Name: HBB:c.122G>C
Hb Name: Hb Alcorn County Protein Info: β 40(C6) Arg>Thr

Context nucleotide sequence:
CTGGTGGTCTACCCTTGGACCCAGA [G/C] GTTCTTTGAGTCCTTTGGGGATCTG (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQTFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

Comments: Reported as a heterozygous haemoglobin (Hb) variant in a 6-month-old Hispanic male and his mother. The β40 site of the mutation for Hb Alcorn County lies at the α1β2 contact region, which is involved in cooperativity and oxygen affinity, and is in the same position as that of Hb Austin and Hb Athens-GA, both of which show increased oxygen affinity. The proband's P50 was low, consistent with increased Hb oxygen affinity.

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70846
Size: 1 bp
Located at: β
Specific Location: Exon 2

Phenotype

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: American Indian, Irish, Hispanic
Inheritance: Recessive
DNA Sequence Determined: Yes

Sequence Viewer

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Publications / Origin

  1. Luu HS, McCavit TL, Park JY, Mitui M, Lopez DD, Timmons CF, Hb Alcorn County: A β-Globin Variant [β40(C6)Arg→Thr; : c.122G>C (p.Arg41Thr)] with Increased Oxygen Affinity., Hemoglobin, 43(3), 204-206, 2019 PubMed
Created on 2015-01-08 17:39:32, Last reviewed on 2020-01-10 14:35:45 (Show full history)

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