IthaID: 3980


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 141 CTG>CCG [Leu>Pro] HGVS Name: HBB:c.425T>C
Hb Name: Hb Yoshkar-Ola Protein Info: β 141(H19) Leu>Pro

Context nucleotide sequence:
GTGGTGGCTGGTGTGGCTAATGCCC [T>C] GGCCCACAAGTATCACTAAGCTCGC (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANAPAHKYH

Also known as:

Comments: Found in a heterozgyous state. Hb levels of 5.9-7.1 g/dL. The patient is 8-year-old boy with severe hemolytic anemia from the age of 4 months. The boy has blood transfusions every 2-3 months and secondary cardiomyopathy due to severe hemolytic anemia. Splenectomy was performed at 4 years old. Hb variant cannot be separated by capillary electrophoresis or RP-HPLC.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

Hemoglobinopathy Group: Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-thalassaemia, β-chain variant
Allele Phenotype:Thalassaemia dominant
Dominant
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: Haemolytic anaemia [HP:0001878]

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71999
Size: 1 bp
Located at: β
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: N/A
Molecular mechanism: N/A
Inheritance: Dominant
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Publications / Origin

To the best of our knowledge, this is unpublished data.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

Created on 2022-11-30 11:28:51, Last reviewed on 2022-11-30 12:17:56 (Show full history)

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