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

dbSNP

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

IthaPhen

Heterozygous records (preview in IthaPhen)

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

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

Publications / Origin

To the best of our knowledge, this is unpublished data.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

Microattributions

A/A	Contributor(s)	Date	Comments
1	Abdul Hamid, Faidatul Syazlin	2023-04-02	First report.

Created on 2023-04-03 10:34:27, Last reviewed on 2023-04-03 10:38:38 (Show full history)

A/A	Date	Curator(s)	Comments
1	2023-04-03 10:34:27	The IthaGenes Curation Team	Created
2	2023-04-03 10:38:38	The IthaGenes Curation Team	Reviewed. microattribution

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.