IthaID: 2526



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 142 TAA>TTA >172aa HGVS Name: HBA2:c.428A>T
Hb Name: Hb Kinshasa Protein Info: α2 142, Stop>Leu; modified C-terminal sequence: (142)Leu-Ala-Gly-Ala-Ser-Val-Ala-Val-Pro-Pro-Ala-Arg-Trp-Ala-Ser-Gln-Arg-Ala-Leu-Leu-Pro-Ser-Leu-His-Arg-Pro-Phe-Leu-Val-Phe-(172)Glu-COOH

Context nucleotide sequence:
ACCGTGCTGACCTCCAAATACCGTT [A/T] AGCTGGAGCCTCGGTAGCCGTTCCT (Strand: +)

External Links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34462
Size: 1 bp
Located at: α2
Specific Location: Exon 3

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-chain variant
Allele Phenotype:N/A
Stability: Hyperunstable
Oxygen Affinity: N/A
Associated Phenotypes: N/A

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Congolese
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Saller E, Dutly F, Frischknecht H, Two novel α2 gene mutations causing altered amino acid sequences produce a mild (Hb Kinshasa, HBA2: c.428A > T) and severe (HBA2: c.342-345insCC) α-thalassemia phenotype., Hemoglobin , 39(2), 144-6, 2015 PubMed
Created on 2014-10-09 11:15:42, Last reviewed on 2016-09-09 09:39:24 (Show full history)

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