IthaID: 645

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	Pathogenic / Likely Pathogenic
Common Name:	CD 87 CAC>TAC [His>Tyr]	HGVS Name:	HBA2:c.262C>T
Hb Name:	Hb M-Iwate	Protein Info:	α2 87(F8) His>Tyr

Context nucleotide sequence:
CGCGCTGTCCGCCCTGAGCGACCTG [C/T] ACGCGCACAAGCTTCGGGTGGACCC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLYAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as: Hb M-Kankakee, Hb M-Oldenburg, Hb M-Sendai

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

HbVar	dbSNP
OMIM

Phenotype

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

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	16
Locus:	NG_000006.1
Locus Location:	34154
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:	Japanese, Irish, German, Turkish, Romanian, Scottish, Caucasian, African-American
Molecular mechanism:	Altered heme pocket
Inheritance:	Recessive
DNA Sequence Determined:	Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

Konigsberg W, Lehmann H, The amino acid substitution in hemoglobin M-Iwate., Biochim. Biophys. Acta , 107(2), 266-9, 1965 PubMed
Sjöquist J, Heterogeneity of heavy (gamma) chain preparations from human gamma G-immunoglobulins., Nature , 210(5041), 1182-3, 1966 PubMed
Jones RT, Coleman RD, Heller P, The structural abnormality of hemoglobin M Kankakee., J. Biol. Chem. , 241(9), 2137-43, 1966 PubMed
Ozsoylu S, Congenital methemoglobinemia due to hemoglobin M., Acta Haematol. , 47(4), 225-32, 1972 PubMed
Trittelvitz E, Gersonde K, Winterhalter KH, Electron-spin resonance of nitrosyl haemoglobins: normal alpha and beta chains and mutants Hb M Iwate and Hb Zürich., Eur. J. Biochem. , 51(1), 33-42, 1975 PubMed
Mayne EE, Elder GE, Lappin TR, Ferguson LA, Hb M Iwate [alpha (2)87His----Tyr beta 2]: de novo mutation in an Irish family., Hemoglobin , 10(2), 205-8, 1986 PubMed
Moradkhani K, Préhu C, Old J, Henderson S, Balamitsa V, Luo HY, Poon MC, Chui DH, Wajcman H, Patrinos GP, Mutations in the paralogous human alpha-globin genes yielding identical hemoglobin variants., Ann. Hematol. , 88(6), 535-43, 2009 PubMed
Viana MB, Belisário AR, De novo alpha 2 hemoglobin gene (HBA2) mutation in a child with hemoglobin M Iwate and symptomatic methemoglobinemia since birth., Rev Bras Hematol Hemoter , 36(3), 230-4, 2014 PubMed

Created on 2010-06-16 16:13:16, Last reviewed on 2021-03-31 22:08:42 (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	2014-04-13 12:37:06	The IthaGenes Curation Team	Reviewed. Added references, common name and location.
4	2014-06-05 12:00:46	The IthaGenes Curation Team	Reviewed. Variation's location corrected.
5	2014-07-28 16:37:59	The IthaGenes Curation Team	Reviewed. New reference added.
6	2021-03-31 22:08:42	The IthaGenes Curation Team	Reviewed. Allele corected.

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