IthaID: 933


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 38 ACC>AAC HGVS Name: HBB:c.116C>A
Hb Name: Hb Hinwil Protein Info: β 38(C4) Thr>Asn

Context nucleotide sequence:
AGGCTGCTGGTGGTCTACCCTTGGA [A/C/T] CCAGAGGTTCTTTGAGTCCTTTGGG (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWNQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70840
Size: 1 bp
Located at: β
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Swiss
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Publications / Origin

  1. Frischknecht H, Ventruto M, Hess D, Hunziker P, Rosatelli MC, Cao A, Breitenstein U, Fehr J, Tuchschmid P, HB Hinwil or beta 38(C4)Thr-->Asn: a new beta chain variant detected in a Swiss family., Hemoglobin, 20(1), 31-40, 1996
Created on 2010-06-16 16:13:16, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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