IthaID: 3716

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	Variant of Uncertain Significance
Common Name:	CD 119 CCT>CAT [Pro>His]	HGVS Name:	HBA2:c.359C>A
Hb Name:	N/A	Protein Info:	N/A

Context nucleotide sequence:
CGCCCACCTCCCCGCCGAGTTCACCC [C/A] TGCGGTGCACGCCTCCCTGGACAAGT (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTHAVHASLDKFLASVSTVLTSKYR

Also known as:

Comments: Reported in 1 case with compound heterozygosity of Hb E [IthaID: 88] with the novel mutation. Patient presented with Hb 15 g/dL, MCH 23.4 pg and MCV 73.5 fL. Elevated levels of HbA2 24% and HbE 22.5% were detected with HPLC and CE respectively.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

dbSNP

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:	34393
Size:	1 bp
Located at:	α2
Specific Location:	Exon 3

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

In silico pathogenicity prediction

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To the best of our knowledge, this is unpublished data.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 14:19:03, Last reviewed on 2021-01-30 14:36:30 (Show full history)

A/A	Date	Curator(s)	Comments
1	2021-01-30 14:19:03	The IthaGenes Curation Team	Created
2	2021-01-30 14:20:39	The IthaGenes Curation Team	Reviewed. Protein sequence corrected.
3	2021-01-30 14:21:54	The IthaGenes Curation Team	Reviewed.
4	2021-01-30 14:36:30	The IthaGenes Curation Team	Reviewed. Link added.

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