IthaID: 2560

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	N/A
Common Name:	CD 142 GCT>GTT [Ala>Val]	HGVS Name:	HBD:c.428C>T
Hb Name:	Hb A2-Episkopi	Protein Info:	N/A

Context nucleotide sequence:
GTGGCTGGTGTGGCTAATGCCCTGG [C>T] TCACAAGTACCATTGAGATCCTGGA (Strand: -)

Protein sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALVHKYH

Also known as:

Comments: Full information for this mutation is withheld pending acceptance for publication.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

dbSNP

ClinVar

Phenotype

Hemoglobinopathy Group:	Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup:	δ-thalassaemia, δ-chain variant
Allele Phenotype:	δ+
Stability:	Unstable
Oxygen Affinity:	N/A
Associated Phenotypes:	N/A

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	11
Locus:	NG_000007.3
Locus Location:	64636
Size:	1 bp
Located at:	δ
Specific Location:	Exon 3

Other details

Type of Mutation:	Point-Mutation(Substitution)
Effect on Gene/Protein Function:	Missense codons (Protein Structure)
Ethnic Origin:	Cypriot, Lebanese
Molecular mechanism:	N/A
Inheritance:	Recessive
DNA Sequence Determined:	Yes

In silico pathogenicity prediction

Publications / Origin

Lederer CW, Pavlou E, Tanteles GA, Evangelidou P, Sismani C, Kolnagou A, Sitarou M, Christou S, Hadjigavriel M, Kleanthous M, Hb A Episkopi - a novel δ-globin chain variant [HBD:c.428C>T] in a family of mixed Cypriot-Lebanese descent., Hematology, 22(5), 304-309, 2017

Microattributions

A/A	Contributor(s)	Date	Comments
1	Lederer, Carsten W.	2015-09-01	First report.

Created on 2015-09-01 16:14:34, Last reviewed on 2024-02-28 16:15:19 (Show full history)

A/A	Date	Curator(s)	Comments
1	2015-09-01 16:14:34	The IthaGenes Curation Team	Created
2	2015-09-01 16:16:21	The IthaGenes Curation Team	Reviewed.
3	2015-09-01 16:19:44	The IthaGenes Curation Team	Reviewed.
4	2016-09-20 15:22:18	The IthaGenes Curation Team	Reviewed.
5	2016-09-20 15:23:56	The IthaGenes Curation Team	Reviewed.
6	2024-02-28 16:14:07	The IthaGenes Curation Team	Reviewed. Variant names, DNA and Protein info, Coordinates and Reference added.
7	2024-02-28 16:15:19	The IthaGenes Curation Team	Reviewed. Links added

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.