IthaID: 3248



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 13 GCC>GTC [Ala>Val] HGVS Name: HBB:c.41C>T
Hb Name: Hb Yulin Protein Info: β 13(A10) Ala>Val

Protein sequence:
MVHLTPEEKSAVTVLWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

Comments: First discovered by target next-generation sequencing with 0.000045 of frequency in 22260 samples (South China origin). In a recent report, was found in a female during routine thalassemia screening. Hb variant was not detected with the common methods of HPLC and CE but with MALDI-TOF and mass spectrometry.

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: 70635
Size: 1 bp
Located at: β
Specific Location: Exon 1

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

Sequence Viewer

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Publications / Origin

  1. Su HX, Li F, Liang L, Zou XB, Li YQ, Detection of Hb Yulin [β13(A10)Ala→Val, : c.41C>T] by Matrix-Assisted Laser Desorption Ionization-Time-of-Flight Mass Spectrometry., Hemoglobin, 2022 PubMed

Microattributions

A/AContributor(s)DateComments
1Xu, Xiangmin2017-08-09First report.
Created on 2017-08-21 12:45:46, Last reviewed on 2022-06-29 10:24:21 (Show full history)

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