IthaID: 1050

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	N/A
Common Name:	CD 75 CTG>CCG; CD 141 (-CTG)	HGVS Name:	HBB:c.[227T>C;424_426delCTG]
Hb Name:	Hb Atlanta-Coventry	Protein Info:	β 75(E19) Leu>Pro AND β 141(H19) Leu->0

Context nucleotide sequence:
AGTGGTGGCTGGTGTGGCTAATGCC [-/CTG] GCCCACAAGTATCACTAAGCTCGCT (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGPAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

Comments: Hb Atlanta-Coventry (βAt-Co) was initially proposed to contain two mutations, β75 Leu>Pro (Hb Atlanta) and β141 Leu deleted (Hb Coventry). It is now proposed that β141 Leu is not deleted but it is likely to be a hydroxyleucine, which results from the post-translational oxidation of β141 Leu as a consequence of perturbation of the haem environment caused by the β75 Leu>Pro mutation in the E helix (E19).

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

HbVar	dbSNP
dbSNP	OMIM

Phenotype

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

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	11
Locus:	NG_000007.3
Locus Location:	70951
Size:	1 bp
Located at:	β
Specific Location:	Exon 2

Other details

Type of Mutation:	Point-Mutation(Deletion)
Effect on Gene/Protein Function:	N/A
Ethnic Origin:	N/A
Molecular mechanism:	Altered secondary structure
Inheritance:	Recessive
DNA Sequence Determined:	No

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

Brennan SO, Shaw J, Allen J, George PM, Beta 141 Leu is not deleted in the unstable haemoglobin Atlanta-Coventry but is replaced by a novel amino acid of mass 129 daltons., British journal of haematology, 81(1), 99-103, 1992 PubMed
Brennan SO, Shaw JG, George PM, Huisman TH, Posttranslational modification of beta 141 Leu associated with the beta 75(E19)Leu-->Pro mutation in Hb Atlanta., Hemoglobin, 17(1), 1-7, 1993 PubMed

Created on 2010-06-16 16:13:16, Last reviewed on 2021-11-29 16:48:52 (Show full history)

A/A	Date	Curator(s)	Comments
1	2010-06-16 16:13:16	The IthaGenes Curation Team	Created
2	2013-10-15 17:00:14	The IthaGenes Curation Team	Reviewed.
3	2021-11-29 16:45:24	The IthaGenes Curation Team	Reviewed. Reference and Comment added.
4	2021-11-29 16:48:52	The IthaGenes Curation Team	Reviewed. Reference.

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