IthaID: 541

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	Pathogenic / Likely Pathogenic
Common Name:	CD 47 GAC>CAC [Asp>His]	HGVS Name:	HBA2:c.142G>C
Hb Name:	Hb Hasharon	Protein Info:	α2 47(CE5) Asp>His

Context nucleotide sequence:
CACCAAGACCTACTTCCCGCACTTC [G/C] ACCTGAGCCACGGCTCTGCCCAGGT (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFHLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as: Hb L-Ferrara, Hb Michigan-I, Hb Michigan-II, Hb Sealy, Hb Sinai

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

HbVar	dbSNP
OMIM	SwissVar
ClinVar

Phenotype

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

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	16
Locus:	NG_000006.1
Locus Location:	34034
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:	Ashkenazi Jews, Italian, German
Molecular mechanism:	N/A
Inheritance:	Recessive
DNA Sequence Determined:	Yes

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

Halbrecht I, Isaacs WA, Lehmann H, Ben-Porat F, Hemoglobin hasharon (alpha-47 aspartic acid--histidine)., Isr. J. Med. Sci. , 3(6), 827-31, 1967 PubMed
Ostertag W, Smith EW, Hb Sinai, a new alpha chain mutant alpha his 47., Humangenetik , 6(4), 377-9, 1968 PubMed
Schneider RG, Ueda S, Alperin JB, Brimhall B, Jones RT, Hemoglobin sealy (alpha 2-47His-beta 2): a new variant in a Jewish family., Am. J. Hum. Genet. , 20(2), 151-6, 1968 PubMed
Charache S, Mondzac AM, Gessner U, Hemoglobin Hasharon (alpha-2-47 his(CD5)beta-2): a hemoglobin found in low concentration., J. Clin. Invest., 48(5), 834-47, 1969 PubMed
Molchanova TP, Pobedimskaya DD, Huisman TH, The differences in quantities of alpha 2- and alpha 1-globin gene variants in heterozygotes., Br. J. Haematol. , 88(2), 300-6, 1994 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
Zur B, Ludwig M, Stoffel-Wagner B, Hemoglobin Hasharon and hemoglobin NYU in subjects of German origin., Biochem Med (Zagreb), 21(3), 321-5, 2011 PubMed

Created on 2010-06-16 16:13:15, Last reviewed on 2022-04-20 12:53:01 (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	2014-03-27 12:58:29	The IthaGenes Curation Team	Reviewed.
4	2020-02-04 12:12:47	The IthaGenes Curation Team	Reviewed. Reference added
5	2020-02-05 08:52:01	The IthaGenes Curation Team	Reviewed. Reference added
6	2022-04-20 12:53:01	The IthaGenes Curation Team	Reviewed. Reference, Origin and link added.

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