IthaID: 1172


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 108 AAC>ATC HGVS Name: HBB:c.326A>T
Hb Name: Hb Schlierbach Protein Info: β 108(G10) Asn>Ile

Context nucleotide sequence:
ATCTTCCTCCCACAGCTCCTGGGCA [A/G/T] CGTGCTGGTCTGTGTGCTGGCCCAT (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGIVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

External Links

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71900
Size: 1 bp
Located at: β
Specific Location: Exon 3

Other details

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

Publications / Origin

  1. Frischknecht H, Speich R, Bloch KE, Fehr J, Tuchschmid P, Jenni R, Hb Schlierbach or beta108(G10)Asn-->Ile: a new variant with low oxygen affinity detected in a Swiss family., Hemoglobin, 23(1), 83-7, 1999
Created on 2010-06-16 16:13:16, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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