IthaID: 1102



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 91 CTG>CGG HGVS Name: HBB:c.275T>G
Hb Name: Hb Caribbean Protein Info: β 91(F7) Leu>Arg

Context nucleotide sequence:
GGCACCTTTGCCACACTGAGTGAGC [C/G/T] GCACTGTGACAAGCTGCACGTGGAT (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSERHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70999
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: Unstable
Oxygen Affinity: Decreased Oxygen Affinity
Associated Phenotypes: N/A

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Canadian | Jamaican
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Ali MA, Pinkerton P, Chow SW, Zaetz SD, Wilson JB, Webber BB, Hu H, Kutlar A, Kutlar F, Huisman TH, Some rare hemoglobin variants with altered oxygen affinities; Hb linkoping [beta 36(C2)Pro----Thr], Hb Caribbean [beta 91(F7)Leu----Arg], and Hb Sunnybrook [beta 36(C2)Pro----Arg], Hemoglobin, 12(2), 137-48, 1988 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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