IthaID: 930


Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 37 TGG>TCG HGVS Name: HBB:c.113G>C
Hb Name: Hb Hirose Protein Info: β 37(C3) Trp>Ser

Context nucleotide sequence:
CTTAGGCTGCTGGTGGTCTACCCTT [A/C/G] GACCCAGAGGTTCTTTGAGTCCTTT (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPSTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70837
Size: 1 bp
Located at: β
Specific Location: Exon 2

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Japanese
Inheritance: Recessive
DNA Sequence Determined: No

Publications / Origin

  1. Yamaoka K, Hemoglobin Hirose: 2 237(C3) tryptophan yielding serine., Blood, 38(6), 730-8, 1971
Created on 2010-06-16 16:13:16, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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