IthaID: 400

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	N/A
Common Name:	-α3.7;CD 109 CTG>CGG	HGVS Name:	N/A
Hb Name:	Hb Suan Dok	Protein Info:	N/A

Also known as:

Comments: The missense mutation HBA2:c.329T>G found in the context of a −α3.7 thalassaemia chromosome.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

HbVar	dbSNP
OMIM	SwissVar
ClinVar

Phenotype

Hemoglobinopathy Group:	Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup:	α-thalassaemia, α-chain variant
Allele Phenotype:	α0
Stability:	N/A
Oxygen Affinity:	N/A
Associated Phenotypes:	Haemolytic anaemia [HP:0001878]

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	16
Locus:	NG_000006.1
Locus Location:	N/A
Size:	1 bp
Located at:	α3.7 hybrid
Specific Location:	N/A

Other details

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

In silico pathogenicity prediction

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

Publications / Origin

Moradkhani K, Mazurier E, Giordano PC, Wajcman H, Préhu C, An alpha0-thalassemia-like mutation: Hb Suan-Dok [alpha109(G16)Leu-->Arg] carried by a recombinant -alpha(3.7) gene., Hemoglobin, 32(4), 419-24, 2008 PubMed

Created on 2010-06-16 16:13:15, Last reviewed on 2021-11-04 11:33:57 (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	2020-10-02 10:36:41	The IthaGenes Curation Team	Reviewed. Comment added. DNA info edited.
4	2020-10-02 10:37:02	The IthaGenes Curation Team	Reviewed.
5	2020-10-02 10:37:39	The IthaGenes Curation Team	Reviewed.
6	2021-11-04 11:33:57	The IthaGenes Curation Team	Reviewed. Common name corrected. HGVS name deleted. Origin added.

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