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%).

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-chain variant
Allele Phenotype:Unclear
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A

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

Sequence Viewer

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Publications / Origin

To the best of our knowledge, this is unpublished data.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

Microattributions

A/AContributor(s)DateComments
1Mohd Yasin, Norafiza 2020-11-24First report.
Created on 2021-04-02 11:32:00, Last reviewed on (Show full history)

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