IthaID: 2436



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 107 GTG>G-G HGVS Name: HBA2:c.323delT
Hb Name: Hb Lynwood Protein Info: α2 107 (-T); modified C-terminal sequence: (107)Gly-Pro-Trp-Pro-Pro-Thr-Ser-Pro-Pro-Ser- Ser-Pro-Leu-Arg-Cys-Thr-Pro-Pro-Trp-Thr- Ser-Ser-Trp-Leu-Leu-(132)COOH

Comments: This Hb variant was found in conjunction with the α3.7 deletion producing a moderately severe α-thalassemia phenotype.

External Links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34357
Size: 1 bp
Located at: α2
Specific Location: Exon 3

Phenotype

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

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Sudanese
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Finlayson J, Ghassemifar R, Holmes P, Grey D, Newbound C, Pell N, Jennens M, Macaulay C, Greenwood L, Beilby J, Hb Lynwood [α107(G14) (-T) (α2) HBA2:c.323delT)] in conjunction with the α(3.7) deletion produces a moderately severe α-thalassemia phenotype., Hemoglobin , 35(2), 142-6, 2011 PubMed
Created on 2014-05-30 20:23:14, Last reviewed on (Show full history)

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