IthaID: 3788

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	N/A
Common Name:	CD 65 GCG>CCG [Ala>Pro]	HGVS Name:	HBA1:c.196G>C
Hb Name:	Hb Maruchi	Protein Info:	α1 65(E14) Ala>Pro

Context nucleotide sequence:
CACGGCAAGAAGGTGGCCGAC [G/C] CGCTGACCAACGCCGTGGCGC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADPLTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

Comments: Found in a 37-year-old Spanish male presented with microcytosis. The new variant cannot be separated from Hb A by electrophoretic and chromatographic techniques and causes α-thalassemia silent associated with a very mild phenotype. Hb Maruchi is a new silent variant and authors believe that it is a hyperunstable protein.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links

Phenotype

Hemoglobinopathy Group:	Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup:	α-thalassaemia, α-chain variant
Allele Phenotype:	α⁺ Silent Hb
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:	37892
Size:	1 bp
Located at:	α1
Specific Location:	Exon 2

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

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Publications / Origin

Paloma Ropero, Jorge M Nieto, Fernando-Ataúlfo González Fernández, Ana Villegas, Celina Benavente, Hb Maruchi [α165 (E14) Ala>Pro; HBA1: c.196G>C]: A new thalassemia hemoglobinopathy related to the alpha1 globin gene, Clin Biochem, 2021 PubMed

Created on 2021-05-12 20:31:35, Last reviewed on 2021-05-14 10:04:51 (Show full history)

A/A	Date	Curator(s)	Comments
1	2021-05-12 20:31:35	The IthaGenes Curation Team	Created
2	2021-05-12 20:36:04	The IthaGenes Curation Team	Reviewed. Comment added.
3	2021-05-13 09:43:38	The IthaGenes Curation Team	Reviewed. Gene corrected.
4	2021-05-14 10:04:51	The IthaGenes Curation Team	Reviewed. Allele phenotype added.

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