IthaID: 1205


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 117 CAC>CCC HGVS Name: HBB:c.353A>C
Hb Name: Hb Saitama Protein Info: β 117(G19) His>Pro

Context nucleotide sequence:
GTGCTGGTCTGTGTGCTGGCCCATC [A/C/G] CTTTGGCAAAGAATTCACCCCACCA (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHPFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

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: 71927
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: Altered secondary structure
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Publications / Origin

  1. Ohba Y, Hasegawa Y, Amino H, Miwa S, Nakatsuji T, Hattori Y, Miyaji T, Hemoglobin saitama or beta 117 (G19) His leads to Pro, a new variant causing hemolytic disease., Hemoglobin, 7(1), 47-56, 1983
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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