IthaID: 1254



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 131 CAG>CCG HGVS Name: HBB:c.395A>C
Hb Name: Hb Shanghai Protein Info: β 131(H9) Gln>Pro

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

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYPKVVAGVANALAHKYH

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71969
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: Unstable
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: Chinese
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Zeng YT, Ren ZR, Chen MJ, Zhao JQ, Qiu XK, Huang SZ, A new unstable haemoglobin variant: Hb Shanghai [beta 131(H9)Gln----Pro] found in China., British journal of haematology, 67(2), 221-3, 1987 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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