IthaID: 891

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	N/A
Common Name:	CD 26 GAG>AAG [Val>Lys], CD 104 AGG>ACG [Arg>Thr]	HGVS Name:	HBB:c.[79G>A;314G>C]
Hb Name:	N/A	Protein Info:	N/A
Also known as:	Hb Robin Hood, Hb Corbeil

We follow the HGVS sequence variant nomenclature and IUPAC standards.

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGKALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

External Links

HbVar	HbVar
dbSNP	dbSNP

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:	70673 or 71038
Size:	1 bp or 1 bp
Located at:	β
Specific Location:	Exon 1

Other details

Type of Mutation:	Point-Mutation(Substitution)
Effect on Gene/Protein Function:	Missense codons (Protein Structure)
Ethnic Origin:	French
Molecular mechanism:	N/A
Inheritance:	Recessive
DNA Sequence Determined:	No

In silico pathogenicity prediction

Publications / Origin

Wajcman H, Kister J, Promé D, Blouquit Y, Préhu C, Poyart C, Galactéros F, Interaction of 2 amino acid substitutions within the same beta chain of human hemoglobin: the examples of Hb Corbeil and Hb Villeparisis., Comptes rendus de l'Académie des sciences. Série III, Sciences de la vie, 318(7), 785-94, 1995

Created on 2010-06-16 16:13:16, Last reviewed on 2025-03-14 07:49:06 (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	2025-03-14 07:48:16	The IthaGenes Curation Team	Reviewed. Variant names/DNA info updated, Link added, Location added
4	2025-03-14 07:49:06	The IthaGenes Curation Team	Reviewed. Effect added

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.