IthaID: 3494


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 49 TCC>CCC [Ser>Pro] HGVS Name: HBB:c.148T>C
Hb Name: Hb Yunnan Protein Info: N/A

Context nucleotide sequence:
TTCTTTGAGTCCTTTGGGGATCTG [T>C] CCACTCCTGATGCTGTTATGGGCAA (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLPTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

Comments: Reported as a heterozygote in one person originating from the Yunnan province during screening for Hb variants (n=41,933).

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70872
Size: 1 bp
Located at: β
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Chinese
Molecular mechanism: Altered secondary structure
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Publications / Origin

  1. Zhang J, Li P, Yang Y, Yan Y, Zeng X, Li D, Chen H, Su J, Zhu B, Molecular epidemiology, pathogenicity, and structural analysis of haemoglobin variants in the Yunnan province population of Southwestern China., Sci Rep, 9(1), 8264, 2019
Created on 2019-11-19 17:29:46, Last reviewed on 2019-12-03 16:24:37 (Show full history)

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