IthaID: 646

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	N/A
Common Name:	CD 87 CAC>AAC [His>Asn]	HGVS Name:	HBA1:c.262C>A \| HBA2:c.262C>A
Hb Name:	Hb Auckland	Protein Info:	α2 or α1 87(F8) His>Asn

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

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLNAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

Comments: Found in a 27-year-old female presented with low oxygen saturation (84 %) and mild hemolytic anaemia. The primary effect of the substitution is to produce molecular instability and heme loss.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

HbVar	dbSNP
dbSNP	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:	34154 or 37958
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:	New Zealand
Molecular mechanism:	Altered heme pocket
Inheritance:	Recessive
DNA Sequence Determined:	No

In silico pathogenicity prediction

Publications / Origin

Brennan SO, Matthews JR, Hb Auckland [alpha 87(F8) His-->Asn]: a new mutation of the proximal histidine identified by electrospray mass spectrometry., Hemoglobin , 21(5), 393-403, 1997

Created on 2010-06-16 16:13:16, Last reviewed on 2021-03-11 15:35:03 (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	2014-04-14 09:25:32	The IthaGenes Curation Team	Reviewed. Added reference, common name and allele pheotype.
4	2015-12-03 14:45:45	The IthaGenes Curation Team	Reviewed. Phenotype updated.
5	2021-03-11 15:35:03	The IthaGenes Curation Team	Reviewed. Allele phenotype corrected. Comment added.

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