IthaID: 1425



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 38 ACC>CCC HGVS Name: HBG2:c.115A>C
Hb Name: Hb F-Bonheiden Protein Info: Gγ 38(C4) Thr>Pro

Context nucleotide sequence:
CAGGCTCCTGGTTGTCTACCCATGG [A/C] CCCAGAGGTTCTTTGACAGCTTTGG (Strand: -)

Protein sequence:
MGHFTEEDKATITSLWGKVNVEDAGGETLGRLLVVYPWPQRFFDSFGNLSSASAIMGNPKVKAHGKKVLTSLGDAIKHLDDLKGTFAQLSELHCDKLHVDPENFKLLGNVLVTVLAIHFGKEFTPEVQASWQKMVTGVASALSSRYH

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 43124
Size: 1 bp
Located at:
Specific Location: Exon 2

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: γ-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: Caucasian
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Van den Driessche M, Moerman J, Moens M, Van Eldere S, Derclaye I, Philippe M, Severe hereditary haemolytic anaemia in a Caucasian newborn: a new fetal haemoglobin variant Hb F-Bonheiden ((G)gamma 38(C4) Thr-->Pro)., European journal of pediatrics, 164(4), 261-2, 2005 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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