IthaID: 687

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	Pathogenic / Likely Pathogenic
Common Name:	CD AAC>CAC [Asn>His]	HGVS Name:	HBA2:c.292A>C
Hb Name:	Hb Fuchu-II	Protein Info:	α2 97(G4) Asn>His

Context nucleotide sequence:
GCACAAGCTTCGGGTGGACCCGGTC [A/C/G] ACTTCAAGGTGAGCGGCGGGCCGGG (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVHFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as: Hb Shinbashi

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

HbVar	ClinVar
dbSNP	OMIM

Phenotype

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

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	16
Locus:	NG_000006.1
Locus Location:	34184
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:	Japanese
Molecular mechanism:	N/A
Inheritance:	Recessive
DNA Sequence Determined:	Yes

In silico pathogenicity prediction

Publications / Origin

Harano T, Harano K, Uehara S, Matsushita K, Two new alpha chain variants: Hb Fuchu-I [alpha 72(EF1)His-->Tyr] and Hb Fuchu-II [alpha 97(G4)Asn-->His]., Hemoglobin , 19(6), 389-95, 1995
Son R, Higuchi T, Mizuno A, Koyamada R, Okada S, Yamashiro Y, A Newly Characterized Hemoglobin Variant with a High Oxygen Affinity, Hb Fuchu-II, Presenting with Acute Myocardial Infarction., Intern. Med. , 55(3), 285-7, 2016

Created on 2010-06-16 16:13:16, Last reviewed on 2016-09-02 13:27:58 (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 15:45:18	The IthaGenes Curation Team	Reviewed. Added common name, allele phenotype, reference and ClinVar link.
4	2016-09-02 13:27:58	The IthaGenes Curation Team	Reviewed. Update of allele phenotype features. Reference added.

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