IthaID: 1255



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 131 CAG>CAC HGVS Name: HBB:c.396G>C
Hb Name: Hb Silver Springs Protein Info: β 131(H9) Gln>His

Context nucleotide sequence:
CCCCACCAGTGCAGGCTGCCTATCA [C/G] AAAGTGGTGGCTGGTGTGGCTAATG (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYHKVVAGVANALAHKYH

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71970
Size: 1 bp
Located at: β
Specific Location: Exon 3

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: African-American
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Hoyer JD, Wick MJ, Thibodeau SN, Kechteiger KS, Cook JD, Fairbanks VF, Hb Silver Springs [beta 131(H9)Gln-->His], a new hemoglobin variant found in six African-Americans., Hemoglobin, 22(1), 37-44, 1998 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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