IthaID: 1109

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	Pathogenic / Likely Pathogenic
Common Name:	CD 92 CAC>CAG [His>Gln]	HGVS Name:	HBB:c.279C>G
Hb Name:	Hb Saint Etienne	Protein Info:	β 92(F8) His>Gln

Context nucleotide sequence:
CCTTTGCCACACTGAGTGAGCTGCA [A>G] TGTGACAAGCTGCACGTGGATCCTG (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELQCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as: Hb Istanbul

Comments: A histidine (His) to glutamine (Gln) change in the proximal position of the β chain (F8(92)) detected by amino acid analysis in individuals with unstable hemoglobin hemolytic anemia.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

HbVar	dbSNP
OMIM	SwissVar
LOVD	ClinVar

Phenotype

Hemoglobinopathy Group:	Structural Haemoglobinopathy
Hemoglobinopathy Subgroup:	β-chain variant
Allele Phenotype:	N/A
Stability:	Unstable
Oxygen Affinity:	Increased Oxygen Affinity
Associated Phenotypes:	Haemolytic anaemia [HP:0001878]

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	11
Locus:	NG_000007.3
Locus Location:	71003
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:	Argentinean, French, Turkish
Molecular mechanism:	Altered heme pocket
Inheritance:	Recessive
DNA Sequence Determined:	Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

Aksoy M, Erdem S, Efremov GD, Wilson JB, Huisman TH, Schroeder WA, Shelton JR, Shelton JB, Ulitin ON, Müftüoğlu A, Hemoglobin Istanbul: substitution of glutamine for histidine in a proximal histidine (F8(92) )., The Journal of clinical investigation, 51(9), 2380-7, 1972 PubMed
Godeau JF, Beuzard YG, Cacheleux J, Brizard CP, Gibaud A, Rosa J, Association of hemoglobin Saint Etienne (alpha2beta295F8 His replaced by G1n) with hemoglobins A and F. Synthesis and subunit exchange in vitro., J Biol Chem, 251(14), 4346-54, 1976 PubMed
Aksoy M, Erdem S, Differences between individuals with hemoglobins Istanbul and Saint-Etienne (alpha 2 beta 2 92F8 His replaced by Gln)., Acta Haematol, 61(5), 295-7, 1979 PubMed
de Weinstein BI, Plaseska-Karanfilska D, Efremov GD, Hb Saint Etienne or Hb Istanbul [beta92(F8)His-->Gln] found in an Argentinean family., Hemoglobin , 24(2), 149-52, 2000 PubMed

Created on 2010-06-16 16:13:16, Last reviewed on 2024-02-13 12:30:10 (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	2014-06-03 16:31:40	The IthaGenes Curation Team	Reviewed. Additional reference, synonym and ClinVar links added.
4	2023-06-09 13:26:07	The IthaGenes Curation Team	Reviewed. HGVS name and DNA info corrected. Comments and References added.
5	2023-06-09 13:40:12	The IthaGenes Curation Team	Reviewed. Reference added
6	2024-02-13 12:30:10	The IthaGenes Curation Team	Reviewed. ClinVar corrected.

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