IthaID: 2431

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 61/62 +65 bp HGVS Name: HBB:c.187_251dup
Hb Name: N/A Protein Info: β 62(+65 bp); modified C-terminal sequence: (62)Ala-His-Gly-Lys-Lys-Val-Leu-Gly-Ala-Phe-Ser-Asp-Gly-Leu-Ala-His-Leu-Asp-Asn-Leu-Lys-Gly-Leu-Met-Ala-Arg-Lys-Cys-Ser-Val-Pro- Leu-Val-Met-Ala-Trp-Leu-Thr-Trp-Thr-Thr- Ser-Arg-Ala-Pro-Leu-Pro-His-(110)COOH

Also known as:

External Links


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70911
Size: 65 bp
Located at: β
Specific Location: Exon 2


Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:β0
Associated Phenotypes: Haemolytic anaemia [HP:0001878]

Other details

Type of Mutation: Point-Mutation(Insertion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: African
Inheritance: Recessive
DNA Sequence Determined: Yes

Sequence Viewer

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Publications / Origin

  1. Waye JS, Eng B, Hellens L, Hohenadel BA, Nakamura LM, Walker L, Normal Hb A2 β-thalassemia trait: frameshift mutation (HBB: c.187_251dup) in cis with the Hb A2' δ-globin gene missense mutation (HBD: c.49G>C)., Hemoglobin , 37(2), 201-4, 2013 PubMed
Created on 2014-05-29 17:07:51, Last reviewed on 2014-05-29 17:08:48 (Show full history)

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