IthaID: 3724

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	Variant of Uncertain Significance
Common Name:	CD 136 CTG>CAG [Leu>Gln]	HGVS Name:	HBA1:c.410T>A
Hb Name:	N/A	Protein Info:	N/A

Context nucleotide sequence:
TTCCTGGCTTCTGTGAGCACCGTGC [T/A] GACCTCCAAATACCGTTAAGCTGGA (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVQTSKYR

Also known as:

Comments: Found in two unrelated heterozygotes individuals. Both were asymptomatic with Hb level range 11.6-15.6 g/dL, MCV 65-75.1 fL, MCH 20.8-25.5 pg, RBC 5.59-6.11 10^12/L and HbA2 of 1.8-2.5 %, with small peaks of 0.3 % and 1.8 % at zone c and zone 11 respectively. Based on online protein prediction publication software (Project HOPE), it has stated that the wild type residue is more hydrophobic than the mutation residue.

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:	38255
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:	N/A
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To the best of our knowledge, this is unpublished data.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	Mohd Yasin, Norafiza	2020-11-24	First report.

Created on 2021-02-02 17:28:47, Last reviewed on 2021-02-08 10:06:39 (Show full history)

A/A	Date	Curator(s)	Comments
1	2021-02-02 17:28:47	The IthaGenes Curation Team	Created
2	2021-02-08 10:06:39	The IthaGenes Curation Team	Reviewed. Link added.

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