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IthaID: 4119



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 55 ATG>ACG [Met>Thr] HGVS Name: HBB:c.167T>C
Hb Name: Hb Jinxian Protein Info: N/A

Context nucleotide sequence:
GATCTGTCCACTCCTGATGCTGTTA [T>C] GGGCAACCCTAAGGTGAAGGCTCAT (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVTGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

Comments: The c.167T>C variant (p.Met56Thr) is a missense mutation in the HBB gene, identified in a heterozygous state. It is associated with a normal hematological phenotype and a normal hemoglobin profile as determined by capillary electrophoresis or ion-exchange high-resolution liquid chromatography. The variant was identified through NGS and validated by Sanger sequencing. Reported as a silent Hb variant, both hematologically and electrophoretically.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

dbSNP

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-chain variant
Allele Phenotype:Silent Hb
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70891
Size: N/A
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: 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

  1. Tan L, Huang T, Luo L, Ma P, Liu J, Zou J, Lu Q, Zou Y, Liu Y, Luo H, Yang B, Molecular Identification and the Hematological Findings of Four Novel Variants in Globin Genes in Jiangxi Province of Southern China., Hemoglobin, 2024 PubMed
Created on 2024-12-11 16:14:34, Last reviewed on 2024-12-12 10:33:52 (Show full history)

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IthaGenes was last updated on 2024-12-12 10:33:52