IthaID: 1003


Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 61 AAG>GAG HGVS Name: HBB:c.184A>G
Hb Name: Hb N-Seattle Protein Info: β 61(E5) Lys>Glu

Context nucleotide sequence:
TGCTGTTATGGGCAACCCTAAGGTG [A/C/G/T] AGGCTCATGGCAAGAAAGTGCTCGG (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVEAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70908
Size: 1 bp
Located at: β
Specific Location: Exon 2

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
Inheritance: Recessive
DNA Sequence Determined: No

Publications / Origin

  1. Jones RT, Brimhall B, Huehns ER, Motulsky AG, Structural characterization of hemoglobin-N-Seattle., Biochimica et biophysica acta, 154(2), 278-83, 1968
Created on 2010-06-16 16:13:16, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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