IthaID: 728

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	Benign / Likely Benign
Common Name:	CD 121 GTG>ATG [Val>Met]	HGVS Name:	HBA1:c.364G>A
Hb Name:	Hb Owari	Protein Info:	α1 121(H4) Val>Met

Context nucleotide sequence:
CCTCCCCGCCGAGTTCACCCCTGCG [G/A] TGCACGCCTCCCTGGACAAGTTCCT (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAMHASLDKFLASVSTVLTSKYR

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

HbVar	ClinVar
dbSNP	dbSNP
OMIM	SwissVar

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:	38209
Size:	1 bp
Located at:	α1
Specific Location:	Exon 3

Other details

Type of Mutation:	Point-Mutation(Substitution)
Effect on Gene/Protein Function:	Missense codons (Protein Structure)
Ethnic Origin:	Japanese, Taiwanese
Molecular mechanism:	N/A
Inheritance:	Recessive
DNA Sequence Determined:	Yes

In silico pathogenicity prediction

Publications / Origin

Harano T, Harano K, Ueda S, Hb Owari [alpha 121 (H 4) Val----Met]: a new hemoglobin variant with a neutral-to-neutral amino acid substitution detected by isoelectric focusing., Hemoglobin , 10(2), 127-34, 1986
Wang LH, Chang CS, Hsieh LL, Er TK, Chang JG, Liu TC, Hb Owari associated with alpha-thalassaemia-1 in a Taiwanese subject., Br J Biomed Sci, 66(4), 205-7, 2009

Created on 2010-06-16 16:13:16, Last reviewed on 2021-04-07 12:38:08 (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 18:36:00	The IthaGenes Curation Team	Reviewed. Added common name, reference and ClinVar link.
4	2021-04-07 12:38:08	The IthaGenes Curation Team	Reviewed. HGVS, protein name and Locus location corrected. Reference and origin added.

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