IthaID: 2544

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	Pathogenic / Likely Pathogenic
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.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

HbVar

LOVD

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

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

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

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

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)

A/A	Date	Curator(s)	Comments
1	2015-01-08 17:39:32	The IthaGenes Curation Team	Created
2	2020-01-10 14:35:45	The IthaGenes Curation Team	Reviewed. Reference, Comment, Protein info and Ethnicity added.

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