IthaID: 947


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 42 TTT>CTT HGVS Name: HBB:c.127T>C
Hb Name: Hb Louisville Protein Info: β 42(CD1) Phe>Leu

Context nucleotide sequence:
GGTCTACCCTTGGACCCAGAGGTTC [C/G/T] TTGAGTCCTTTGGGGATCTGTCCAC (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFLESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70851
Size: 1 bp
Located at: β
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Canadian | Cuban | English | Irish | Rumanian
Molecular mechanism: Altered heme pocket
Inheritance: Recessive
DNA Sequence Determined: No

Publications / Origin

  1. Keeling MM, Ogden LL, Wrightstone RN, Wilson JB, Reynolds CA, Kitchens JL, Huisman TH, Hemoglobin Louisville (beta-42 (CD1) phe-leu): an unstable variant causing mild hemolytic anemia., The Journal of clinical investigation, 50(11), 2395-402, 1971
Created on 2010-06-16 16:13:16, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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