IthaID: 3972

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	N/A
Common Name:	CD 140 TAC>TAA [Tyr>STOP]	HGVS Name:	HBA1:c.423C>A
Hb Name:	Hb Natal	Protein Info:	α1 140(HC2) Tyr>0

Context nucleotide sequence:
TGAGCACCGTGCTGACCTCCAAATA [C/A] CGTTAAGCTGGAGCCTCGGTAGCCG (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKX

Also known as:

Comments: The missense mutation creates a new premature stop codon.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links

Phenotype

Hemoglobinopathy Group:	Structural Haemoglobinopathy
Hemoglobinopathy Subgroup:	α-chain variant
Allele Phenotype:	α⁺
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:	38268
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:	Greek
Molecular mechanism:	N/A
Inheritance:	Recessive
DNA Sequence Determined:	Yes

In silico pathogenicity prediction

Publications / Origin

Efstathiou A, Boutou E, Teli A, Drikos I, Balassopoulou A, Theodoridou S, A New Hemoglobin Variant, Hb Natal (: c.423C>A), Found in a Greek Family., Hemoglobin, 2022

Created on 2022-09-09 10:31:07, Last reviewed on 2022-09-09 10:32:05 (Show full history)

A/A	Date	Curator(s)	Comments
1	2022-09-09 10:31:07	The IthaGenes Curation Team	Created
2	2022-09-09 10:32:05	The IthaGenes Curation Team	Reviewed. Allele phenotype added.

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