IthaID: 570

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	Pathogenic / Likely Pathogenic
Common Name:	CD 58 CAC>TAC [His>Tyr]	HGVS Name:	HBA2:c.175C>T
Hb Name:	Hb M-Boston	Protein Info:	α2 58(E7) His>Tyr

Context nucleotide sequence:
CCACGGCTCTGCCCAGGTTAAGGGC [C/T] ACGGCAAGAAGGTGGCCGACGCGCT (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGYGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as: Hb M-Gothenburg, Hb M-Kiskunhalas, Hb M-Norin, Hb M-Osaka

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

HbVar	dbSNP
dbSNP	OMIM
SwissVar

Phenotype

Hemoglobinopathy Group:	Structural Haemoglobinopathy
Hemoglobinopathy Subgroup:	α-chain variant
Allele Phenotype:	Methemoglobinaemia
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:	34067
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, Swedish, Dutch, Hungarian, Japanese
Molecular mechanism:	Altered heme pocket
Inheritance:	Recessive
DNA Sequence Determined:	No

In silico pathogenicity prediction

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

Publications / Origin

Pulsinelli PD, Perutz MF, Nagel RL, Structure of hemoglobin M Boston, a variant with a five-coordinated ferric heme., Proc. Natl. Acad. Sci. U.S.A. , 70(12), 3870-4, 1973 PubMed
Nishikura K, Sugita Y, Nagai M, Yoneyama Y, Jagenburg R, High cooperativity of haemoglobin M Boston in the completely reduced state., Nature , 254(5502), 727-8, 1975 PubMed
Takahashi S, Lin AK, Ho C, Proton nuclear magnetic resonance studies of hemoglobins M Boston (alpha 58E7 His leads to Tyr) and M Milwaukee (beta 67E11 Val leads to Glu): spectral assignments of hyperfine-shifted proton resonances and of proximal histidine (E7) NH resonances to the alpha and beta chains of normal human adult hemoglobin., Biochemistry , 19(23), 5196-202, 1980 PubMed
Shin C, Hong M, Kim M, Lee JH, Exon sequencing of the alpha-2-globin gene for the differential diagnosis of central cyanosis in newborns: a case report., BMC Pediatr, 19(1), 221, 2019 PubMed

Created on 2010-06-16 16:13:15, Last reviewed on 2021-05-12 15:36:33 (Show full history)

A/A	Date	Curator(s)	Comments
1	2010-06-16 16:13:15	The IthaGenes Curation Team	Created
2	2013-10-15 17:00:14	The IthaGenes Curation Team	Reviewed.
3	2014-04-09 17:49:24	The IthaGenes Curation Team	Reviewed.
4	2014-04-09 17:49:45	The IthaGenes Curation Team	Reviewed.
5	2015-12-03 14:36:46	The IthaGenes Curation Team	Reviewed. Phenotype updated.
6	2021-05-12 15:36:33	The IthaGenes Curation Team	Reviewed. HGVS, protein name and location corrected. Publication added.

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