IthaID: 1427



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 40 AGG>AAG HGVS Name: HBG2:c.122G>A
Hb Name: Hb F-Austell Protein Info: Gγ 40(C6) Arg>Lys

Context nucleotide sequence:
CTGGTTGTCTACCCATGGACCCAGA [A/G] GTTCTTTGACAGCTTTGGCAACCTG (Strand: -)

Protein sequence:
MGHFTEEDKATITSLWGKVNVEDAGGETLGRLLVVYPWTQKFFDSFGNLSSASAIMGNPKVKAHGKKVLTSLGDAIKHLDDLKGTFAQLSELHCDKLHVDPENFKLLGNVLVTVLAIHFGKEFTPEVQASWQKMVTGVASALSSRYH

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 43131
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: African
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Kutlar A, Kutlar F, Wilson JB, Webber BB, Hu H, Huisman TH, Hb F-Austell or alpha 2G gamma (2)40(C6)Arg----Lys., Hemoglobin, 12(4), 409-11, 1988 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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