IthaID: 669

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	Pathogenic / Likely Pathogenic
Common Name:	CD 92 CGG>CTG [Arg>Leu]	HGVS Name:	HBA2:c.278G>T
Hb Name:	Hb Chesapeake	Protein Info:	α2 92(FG4) Arg>Leu

Context nucleotide sequence:
AGCGACCTGCACGCGCACAAGCTTC [G/T] GGTGGACCCGGTCAACTTCAAGGTG (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLLVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

External Links

HbVar	ClinVar
dbSNP	dbSNP
OMIM

Phenotype

Hemoglobinopathy Group:	Structural Haemoglobinopathy
Hemoglobinopathy Subgroup:	α-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:	16
Locus:	NG_000006.1
Locus Location:	34170
Size:	1 bp
Located at:	α2
Specific Location:	Exon 2

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

Clegg JB, Naughton MA, Weatherball DJ, Abnormal human haemoglobins. Separation and characterization of the alpha and beta chains by chromatography, and the determination of two new variants, hb Chesapeak and hb J (Bangkok)., Journal of molecular biology, 19(1), 91-108, 1966 PubMed
Charache S, Weatherall DJ, Clegg JB, Polycythemia associated with a hemoglobinopathy., J. Clin. Invest. , 45(6), 813-22, 1966 PubMed
Greer J, Three-dimensional structure of abnormal human haemoglobins Chesapeake and J Capetown., J. Mol. Biol. , 62(1), 241-9, 1971 PubMed
Gibson QH, Nagel RL, Allosteric transition and ligand binding in hemoglobin Chesapeake., J. Biol. Chem. , 249(22), 7255-9, 1974 PubMed
Imai K, Hemoglobin Chesapeake (92 alpha, arginine--leucine). Precise measurements and analyses of oxygen equilibrium., J. Biol. Chem. , 249(23), 7607-12, 1974 PubMed
Jones CM, Charache S, Hathaway PJ, The effect of hemoglobin F-Chesapeake (alpha 2 92 Arg. leads to Leu gamma 2) on fetal oxygen affinity and erythropoiesis., Pediatr. Res. , 13(7), 851-3, 1979 PubMed
Harano T, Harano K, Shibata S, Ueda S, Mori H, Imai K, Hb Chesapeake [alpha 92 (FG 4) Arg replaced by Leu] and Hb J Cape Town [alpha 92 (FG 4) Arg leads to Gln] first discovered in Japanese., Hemoglobin , 7(5), 461-5, 1983 PubMed
Granel B, Serratrice J, Badens C, Lena-Russo D, Disdier P, Weiller PJ, A new case of hemoglobin Chesapeake., Haematologica , 86(1), 105, 2001 PubMed

Created on 2010-06-16 16:13:16, Last reviewed on 2021-04-07 12:11:22 (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	2014-04-14 11:51:29	The IthaGenes Curation Team	Reviewed. Added references, common name, allele phenotype and ClinVar link.
4	2015-08-07 11:39:08	The IthaGenes Curation Team	Reviewed. Common name corrected
5	2021-04-07 12:11:22	The IthaGenes Curation Team	Reviewed. HGVS, protein name and Locus location corrected. Origin added.

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