IthaID: 564

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	N/A
Common Name:	CD 56 AAG>GAG [Lys>Glu]	HGVS Name:	HBA1:c.169A>G \| HBA2:c.169A>G
Hb Name:	Hb Shaare Zedek	Protein Info:	α2 or α1 56(E5) Lys>Glu

Context nucleotide sequence:
CCTGAGCCACGGCTCTGCCCAGGTT [A/G] AGGGCCACGGCAAGAAGGTGGCCGA (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVEGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

HbVar	dbSNP
dbSNP	OMIM

Phenotype

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

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	16
Locus:	NG_000006.1
Locus Location:	34061 or 37865
Size:	1 bp or 1 bp
Located at:	α1 or α2
Specific Location:	Exon 2

Other details

Type of Mutation:	Point-Mutation(Substitution)
Effect on Gene/Protein Function:	Missense codons (Protein Structure)
Ethnic Origin:	Jewish
Molecular mechanism:	N/A
Inheritance:	Recessive
DNA Sequence Determined:	No

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

Abramov A, Lehmann H, Robb L, Hb Shaare Zedek (alpha 56 E5 Lys leads to Glu)., FEBS Lett. , 113(2), 235-7, 1980 PubMed
Li Y, Tian M, Qin T, Wan L, Capillary Electrophoresis Resolves Inconclusive HPLC Analysis for Hemoglobin Variants: a Study of Two Cases., Clin Lab, 64(7), 1305-1309, 2018 PubMed

Created on 2010-06-16 16:13:15, Last reviewed on 2021-03-31 10:31:22 (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	2014-03-28 14:33:59	The IthaGenes Curation Team	Reviewed.
4	2021-03-31 10:31:22	The IthaGenes Curation Team	Reviewed. Reference added.

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