IthaID: 3758

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	Pathogenic / Likely Pathogenic
Common Name:	CD 126 GAC>AAC [Asp>Asn]	HGVS Name:	HBA2:c.379G>A
Hb Name:	Hb Tarrant	Protein Info:	α2 126(H9) Asp>Asn

Context nucleotide sequence:
CACCCCTGCGGTGCACGCCTCCCTG [G/A] ACAAGTTCCTGGCTTCTGTGAGCAC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLNKFLASVSTVLTSKYR

Also known as:

External Links

HbVar	dbSNP
dbSNP	OMIM
ClinVar

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:	34413
Size:	1 bp
Located at:	α2
Specific Location:	Exon 3

Other details

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

Sequence Viewer

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Publications / Origin

Moo-Penn WF, Jue DL, Johnson MH, Wilson SM, Therrell B, Schmidt RM, Hemoglobin Tarrant: alpha126(H9) Asp leads to Asn. A new hemoglobin variant in the alpha1beta1 contact region showing high oxygen affinity and reduced cooperativity., Biochim. Biophys. Acta , 490(2), 443-51, 1977 PubMed
Ibarra B, Vaca G, Cantú JM, Wilson JB, Lam H, Stallings M, Gravely ME, Huisman TH, Heterozygosity and homozygosity for the high oxygen affinity hemoglobin Tarrant or alpha 126 (H9) Asp replaced by Asn in two Mexican families., Hemoglobin , 5(4), 337-48, 1981 PubMed
Ip KaLingRosalina,So JasonChi-Chiu,Law Man-Fai,Wong RaymondSM,Tam HoChi,Ng MargaretHL, Hb Tarrant [α126(H9)Asp→Asn; HBA2: c.379G > A (or HBA1)] in a Chinese Family as a Cause of Familial Erythrocytosis., Hemoglobin, 4(4), 260-3, 2017 PubMed

Created on 2021-03-31 21:09:22, Last reviewed on 2021-03-31 21:12:07 (Show full history)

A/A	Date	Curator(s)	Comments
1	2021-03-31 21:09:22	The IthaGenes Curation Team	Created
2	2021-03-31 21:12:07	The IthaGenes Curation Team	Reviewed. Links added.

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