IthaID: 4022


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 122 TTC>TGC [Phe>Cys] HGVS Name: HBB:c.368T>G
Hb Name: Hb Tanah Merah Protein Info: N/A

Context nucleotide sequence:
CTGGCCCATCACTTTGGCAAAGAAT [T>G] CACCCCACCAGTGCAGGCTGCCTAT (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKECTPPVQAAYQKVVAGVANALAHKYH

Also known as:

Comments: The mutation changes Phenylalanine into Cysteine and was found in seven individuals. Six individuals (individuals 1-6) had Hb levels of 11-14.4g/dL and HbA2 levels in the range of 3.3-3.8% via the CE method. One individual (individual 7) with Hb level of 17.3g/dL had a HbA2 level of 3.4% by HPLC method. No Hb variant was found in both methods. Common alpha thalassaemia (deletion and non-deletional) were tested in all seven individuals and only one individual (individual 6) had co-inherited single gene 3.7Kb deletion with HbA2 level of 3.8%. No common alpha thalassaemia was detected in the other six individuals.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71942
Size: 1 bp
Located at: β
Specific Location: Exon 3

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

Publications / Origin

To the best of our knowledge, this is unpublished data.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

Microattributions

A/AContributor(s)DateComments
1Abdul Hamid, Faidatul Syazlin2023-04-02First report.
Created on 2023-04-03 10:34:27, Last reviewed on 2023-04-03 10:38:38 (Show full history)

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