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

HbVar

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]

IthaPhen

Heterozygous records (preview in IthaPhen)

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

Sequence Viewer

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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To the best of our knowledge, this is unpublished data.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)

A/A	Date	Curator(s)	Comments
1	2022-11-30 11:28:51	The IthaGenes Curation Team	Created
2	2022-11-30 12:17:56	The IthaGenes Curation Team	Reviewed. Text added.

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