IthaID: 1253



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 131 CAG>CGG HGVS Name: HBB:c.395A>G
Hb Name: Hb Sarrebourg Protein Info: β 131(H9) Gln>Arg

Context nucleotide sequence:
ACCCCACCAGTGCAGGCTGCCTATC [A/C/G] GAAAGTGGTGGCTGGTGTGGCTAAT (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYRKVVAGVANALAHKYH

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: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71969
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: Turkish
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Beneitez Pastor D, Carrera A, Duran-Suárez JR, Pastor MA, Vinent FA, Melich C, Hematological and molecular characteristics of Hb Sarrebourg [beta131(H9)Gln-->Arg (CAG-->CGG)] found in a Spanish family., Hemoglobin, 31(2), 183-5, 2007 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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