IthaID: 4080

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	N/A
Common Name:	CD 75 CTG>CAG [Leu>Gln]	HGVS Name:	HBB:c.227T>A
Hb Name:	Hb Raklev	Protein Info:	N/A

Context nucleotide sequence:
GTGCTCGGTGCCTTTAGTGATGGCC [T>A] GGCTCACCTGGACAACCTCAAGGGC (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGQAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

Comments: Found in a symptomless 54-year-old Caucasian woman during an HbA1c evaluation using high performance liquid chromatography, as well as in her 16-year-old daughter. Purification of the hemoglobin revealed possibly diminished 2,3-bisphosphoglycerate (2,3-BPG) sensitivity, which may result in heightened oxygen affinity.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links

Phenotype

Hemoglobinopathy Group:	Structural Haemoglobinopathy
Hemoglobinopathy Subgroup:	β-chain variant
Allele Phenotype:	N/A
Stability:	N/A
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(Substitution)
Effect on Gene/Protein Function:	Missense codons (Protein Structure)
Ethnic Origin:	N/A
Molecular mechanism:	N/A
Inheritance:	Recessive
DNA Sequence Determined:	Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

Anne Rudbeck Juhl, Jens Helby, Amina Nardo-Marino, Jesper Petersen, Elin Ellebæk Petersen, Kristoffer Neldeborg Jensen, Pal Bela Szecsi, Palle S Bratholm, Tobias Wang, Andreas Glenthøj, A Novel β-Globin Variant, Hb Raklev [β 75(E19) HBB:c.227T > A (Leu→Gln)], Hemoglobin, 47(4), 140-144, 2023 PubMed

Created on 2023-11-21 09:38:56, Last reviewed on (Show full history)

A/A	Date	Curator(s)	Comments
1	2023-11-21 09:38:56	The IthaGenes Curation Team	Created

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