IthaID: 3916

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	N/A
Common Name:	CD 15 GGT>TGT [Gly>Cys]	HGVS Name:	HBA2:c.46G>T
Hb Name:	Hb Orbassano	Protein Info:	α2 15(A13) Gly>Cys

Context nucleotide sequence:
CAAGACCAACGTCAAGGCCGCCTGG [G/T] GTAAGGTCGGCGCGCACGCTGGCGA (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWCKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

Comments: Found in a healthy heterozygous patient presented with Hb 12.6 g/dL, MCV 83 fL, MCH 31.5 pg and RBC 4.8 10^12/L. Capillary electrophoresis shown that the HbX variant migrated in zone 13 with HbX level 13.1% and HbA2 2.5%. No separation of HbX and HbA found with HPLC analysis.

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:	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:	33821
Size:	1 bp
Located at:	α2
Specific Location:	Exon 1

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

To the best of our knowledge, this is unpublished data. Please use with caution!

Microattributions

A/A	Contributor(s)	Date	Comments
1	Mandrile, Giorgia	2022-04-07	First report.
2	Nicolò , Cinzia	2022-04-07	First report. HPLC and capillary electrophoresis analyses
3	Curcio , Cristina	2022-04-07	First report. Molecular analysis

Created on 2022-04-15 11:40:01, Last reviewed on (Show full history)

A/A	Date	Curator(s)	Comments
1	2022-04-15 11:40:01	The IthaGenes Curation Team	Created

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