IthaID: 818


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 6 GAG>GTG; CD 82AAG>AAT or AAC HGVS Name: HBB:c.[20A>T;249G>C] | HBB:c.[20A>T;249G>T]
Hb Name: Hb S-Providence Protein Info: β 6(A3) Glu>Val AND β 82(EF6) Lys>Asn

Context nucleotide sequence:
GACACCATGGTGCATCTGACTCCTG [A/C/G/T] GGAGAAGTCTGCCGTTACTGCCCTG (Strand: -)

Protein sequence:
MVHLTPVEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

External Links

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70614
Size: 1 bp
Located at: β
Specific Location: Exon 1

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: African
Molecular mechanism: Altered secondary structure
Inheritance: Recessive
DNA Sequence Determined: No

Publications / Origin

  1. Gale RE, Blair NE, Huehns ER, Clegg JB, Hb A-like sickle haemoglobin: Hb S-providence., British journal of haematology, 70(2), 251-2, 1988
Created on 2010-06-16 16:13:16, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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