IthaID: 4098

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	N/A
Common Name:	CD 86 CTG>CCG [Leu>Pro]	HGVS Name:	HBA1:c.260T>C
Hb Name:	Hb Thessaloniki	Protein Info:	N/A

Context nucleotide sequence:
AACGCGCTGTCCGCCCTGAGCGACC [T>C] GCACGCGCACAAGCTTCGGGTGGAC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDPHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

Comments: Heterozygote with 14g/dL Hb, 42.9% HCT, 5.77x10^6/uL RBC, 24.2pg MCH, 74.2fL MCV, 14.3% RDW, 1.8% HbA2, 154ng/mL serum ferritin, and inclusion bodies (+). Mild microcytic and hypochromic erythrocyte indices. No abnormal Hb variant detected in HPLC analysis. Positive isopropanol precipitation test. The Leu>Pro replacement occurs next to the heme binding proximal histidine, probably affecting the stability of the protein.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

dbSNP

Phenotype

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

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	16
Locus:	NG_000006.1
Locus Location:	37956
Size:	1 bp
Located at:	α1
Specific Location:	Exon 2

Other details

Type of Mutation:	Point-Mutation(Substitution)
Effect on Gene/Protein Function:	Missense codons (Protein Structure)
Ethnic Origin:	Northern Greece (Macedonia),
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To the best of our knowledge, this is unpublished data.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	Boutou, Effrossyni	2024-05-01	First report.

Created on 2024-05-08 17:05:09, Last reviewed on 2024-05-09 11:58:23 (Show full history)

A/A	Date	Curator(s)	Comments
1	2024-05-08 17:05:09	The IthaGenes Curation Team	Created
2	2024-05-09 11:58:23	The IthaGenes Curation Team	Reviewed. Comment 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.