IthaID: 1188


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 114 CTG>ATG; CD 119 GGC>GAC HGVS Name: HBB:c.[343C>A;359G>A]
Hb Name: Hb Masuda Protein Info: β 114(G16) Leu>Met AND β 119(GH2) Gly>Asp

Context nucleotide sequence:
CCTGGGCAACGTGCTGGTCTGTGTG [A/C] TGGCCCATCACTTTGGCAAAGAATT (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVMAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71917
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: Japanese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Publications / Origin

  1. Ohba Y, Ami M, Imai K, Komatsu K, Amatsu K, Hb Masuda [beta 114(G16)Leu----Met, 119(GH2)Gly----Asp], a hemoglobin with two substitutions in the beta chain., Hemoglobin, 13(7), 753-9, 1989
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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