IthaID: 1458


Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 130 TGG>GGG HGVS Name: HBG2:c.391T>G
Hb Name: Hb F-Poole Protein Info: Gγ 130(H8) Trp>Gly

Context nucleotide sequence:
ATTCACCCCTGAGGTGCAGGCTTCC [A/G/T] GGCAGAAGATGGTGACTGGAGTGGC (Strand: -)

Protein sequence:
MGHFTEEDKATITSLWGKVNVEDAGGETLGRLLVVYPWTQRFFDSFGNLSSASAIMGNPKVKAHGKKVLTSLGDAIKHLDDLKGTFAQLSELHCDKLHVDPENFKLLGNVLVTVLAIHFGKEFTPEVQASGQKMVTGVASALSSRYH

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 44286
Size: 1 bp
Located at:
Specific Location: Exon 3

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: γ-chain variant
Allele Phenotype:N/A
Stability: Unstable
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-Caucasian
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

Publications / Origin

  1. Lee-Potter JP, Deacon-Smith RA, Simpkiss MJ, Kamuzora H, Lehmann H, A new cause of haemolytic anaemia in the newborn. A description of an unstable fetal haemoglobin: F Poole, alpha2-G-gamma2 130 trptophan yeilds glycine., Journal of clinical pathology, 28(4), 317-20, 1975
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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