IthaID: 3282


Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 37 TGG>TGC [Trp>Cys] HGVS Name: HBB:c.114G>C
Hb Name: N/A Protein Info: β37(C3) Trp>Cys

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPCTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as: Hb Kent

Comments: Mutation was reported to be synonymous with Hb Kent variant.

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70838
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: Missense codons (Protein Structure)
Ethnic Origin: Chinese
Inheritance: Recessive
DNA Sequence Determined: Yes

Publications / Origin

  1. Chan NCN, Chow KH, Leung RFY, Tang SSH, Chiu MFW, Lie R, Cheng KCK, Lau KM, Chan NPH, Ng MHL, First Report of Hb Kent [β37(C3)Trp→Cys (TGG>TGC) HBB: c.114G>C] in a Chinese Family., Hemoglobin , 2017
Created on 2017-12-11 20:05:49, Last reviewed on 2017-12-13 16:58:26 (Show full history)

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