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 %.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

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

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

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To the best of our knowledge, this is unpublished data.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/AContributor(s)DateComments
1Mohd Yasin, Norafiza 2020-11-24First report.
Created on 2021-01-30 13:58:49, Last reviewed on 2021-02-01 11:40:11 (Show full history)

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