IthaID: 1177


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 109 GTG>ATG HGVS Name: HBB:c.328G>A
Hb Name: Hb San Diego Protein Info: β 109(G11) Val>Met

Context nucleotide sequence:
CTTCCTCCCACAGCTCCTGGGCAAC [A/C/G/T] TGCTGGTCTGTGTGCTGGCCCATCA (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNMLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71902
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: Anglo-Saxon | Caucasian | Japanese | Philippine | West Indian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Publications / Origin

  1. Nakatsuji I, Wilson JB, Lam H, Huisman TH, Identification and quantitation of Hb Olympia [beta 20(B2)Val leads to Met] and Hb San Diego [beta 109(G11)Val leads to Met] by high-performance liquid chromatography., Journal of chromatography, 259(3), 511-4, 1983
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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