IthaID: 3075

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 56/57 (+24bp) HGVS Name: HBA1:c.171_172insAGCCACGGCTCTGCCCAAGTTAGG
Hb Name: Hb Kaohsiung Veterans General Hospital Protein Info: Ser-His-Gly-Ser-Ala-Gln-Val-Arg- inserted between codons 56(E5) and 57(E6) of α1

Also known as: HBA1:p.Lys57_Gly58insSerHisGlySerAlaGlnValLys , Hb KSVGH

Comments: Found as a heterozygote in a patient with erythrocytosis.

External Links


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


Chromosome: 16
Locus: NG_000006.1
Locus Location: 37868
Size: 24 bp
Located at: α1
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Insertion)
Effect on Gene/Protein Function: Insertion/Deletion of codons (Protein Structure)
Ethnic Origin: Taiwanese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Sequence Viewer

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Publications / Origin

  1. Wang MC, Tsai KW, Chu CH, Yu MS, Lam HC, A novel hemoglobin variant found on the α1 chain: Hb KSVGH (HBA1: p.Lys57_Gly58insSerHisGlySerAlaGlnValLys)., Hemoglobin , 39(2), 81-7, 2015 PubMed
Created on 2016-09-08 18:28:22, Last reviewed on 2018-02-07 17:22:49 (Show full history)

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