IthaID: 3767

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	N/A
Common Name:	CD 30 GAG>AAG [Glu>Lys]	HGVS Name:	HBA1:c.91G>A
Hb Name:	Hb O-Padova	Protein Info:	α1 30(B11) Glu>Lys

Context nucleotide sequence:
TGGCGAGTATGGTGCGGAGGCCCTG [G/A] AGAGGTGAGGCTCCCTCCCCTGCTC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALKRMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

Comments: Reported in one case from Sabah in compound heterozygosity with -α4.2 [IthaID:301]. Presented with normal levels of Hb 11.4 g/dL and RBC 5.36 10^12/L and reduced levels of MCV 70.1 fL and MCH 21.3 pg. Capillary electrophoresis shown reduced level of HbA2 1.7% with an abnormal peak of 29.9 % (at zone E) and a small abnormal peak at Z1 (0.8%).

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

HbVar	dbSNP
OMIM	SwissVar

Phenotype

Hemoglobinopathy Group:	Structural Haemoglobinopathy
Hemoglobinopathy Subgroup:	α-chain variant
Allele Phenotype:	Unclear
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:	37670
Size:	1 bp
Located at:	α1
Specific Location:	Exon 1

Other details

Type of Mutation:	Point-Mutation(Substitution)
Effect on Gene/Protein Function:	Missense codons (Protein Structure)
Ethnic Origin:	Malay
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To the best of our knowledge, this is unpublished data.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 2021-04-02 11:32:00, Last reviewed on (Show full history)

A/A	Date	Curator(s)	Comments
1	2021-04-02 11:32:00	The IthaGenes Curation Team	Created

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