IthaID: 551

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	Pathogenic / Likely Pathogenic
Common Name:	CD 50 CAC>CGC [His>Arg]	HGVS Name:	HBA1:c.152A>G \| HBA2:c.152A>G
Hb Name:	Hb Aichi	Protein Info:	α2 or α1 50(CE8) His>Arg

Context nucleotide sequence:
TACTTCCCGCACTTCGACCTGAGCC [A/G/T] CGGCTCTGCCCAGGTTAAGGGCCAC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSRGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

External Links

HbVar	dbSNP
dbSNP	OMIM
SwissVar

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:	34044 or 37848
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:	Japanese
Molecular mechanism:	N/A
Inheritance:	Recessive
DNA Sequence Determined:	No

HPLC

Disclaimer: The HPLC images are provided as an information resource only. Bio-Rad Laboratories, Inc and the ITHANET Portal disclaim responsibility and have no liability if this information is used for diagnostic or treatment purposes. D-10™ and VARIANT™ are registered trademarks of Bio-Rad Laboratories, Inc. and used with permission. Redistribution and use of the above material is allowed only with permission by Bio-Rad Laboratories, Inc. To access HPLC images and reports for different variants, use the IthaChrom tool.

ID	Hb Variant	Gene	Instrument	Method	Area (%)	Ret Time (min)	Comments
599	Hb Aichi	α1 or α2	D-10	Dual Kit Program	21.9	4.05	Heterozygous. Elutes as HbS.	[PDF]
600	Hb Aichi	α1 or α2	VARIANT	β-thal Short Program	19.7	4.17	Heterozygous. Elutes as HbS.	[PDF]
601	Hb Aichi	α1 or α2	VARIANT II	β-thal Short Program	21.1	4.33	Heterozygous. Elutes as HbS.	[PDF]
602	Hb Aichi	α1 or α2	VARIANT II	Dual Kit Program	22.5	3.465	Heterozygous. Elutes as HbS.	[PDF]

Sequence Viewer

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Publications / Origin

Harano T, Harano K, Shibata S, Ueda S, Mori H, Seki M, Hemoglobin Aichi [alpha 50(CE8) His----Arg]: a new slightly unstable hemoglobin variant discovered in Japan., FEBS Lett. , 169(2), 297-9, 1984 PubMed

Created on 2010-06-16 16:13:15, Last reviewed on 2015-12-14 11:32:49 (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 13:33:17	The IthaGenes Curation Team	Reviewed.
4	2015-12-14 11:32:49	The IthaGenes Curation Team	Reviewed.

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