IthaID: 3713

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	Variant of Uncertain Significance
Common Name:	CD 11 AAG>ACG [Lys>Thr]	HGVS Name:	HBA2:c.35A>C
Hb Name:	N/A	Protein Info:	N/A

Context nucleotide sequence:
TGTCTCCTGCCGACAAGACCAACGTCA [A>C] GGCCGCCTGGGGTAAGGTCGGCGCGC (Strand: +)

Protein sequence:
MVLSPADKTNVTAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

Comments: Reported in 1 case presented with Hb 14.7 g/dL and normal levels of MCV and MCH Hb analyses revealed HbA2 1.8 % and an abnormal peak of 27 %.

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:	33810
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:	N/A
Molecular mechanism:	N/A
Inheritance:	Recessive
DNA Sequence Determined:	Yes

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To the best of our knowledge, this is unpublished data.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	Mohd Yasin, Norafiza	2020-11-24	First report.

Created on 2021-01-30 13:58:49, Last reviewed on 2021-02-01 11:40:11 (Show full history)

A/A	Date	Curator(s)	Comments
1	2021-01-30 13:58:49	The IthaGenes Curation Team	Created
2	2021-01-30 14:00:55	The IthaGenes Curation Team	Reviewed. Comment corrected.
3	2021-02-01 11:40:11	The IthaGenes Curation Team	Reviewed. Protein sequence added.

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