IthaID: 1431



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 59 AAA>CAA HGVS Name: HBG2:c.178A>C
Hb Name: Hb F-Sacromonte Protein Info: Gγ 59(E3) Lys>Gln

Context nucleotide sequence:
TGCCTCTGCCATCATGGGCAACCCC [A/C/G] AAGTCAAGGCACATGGCAAGAAGGT (Strand: -)

Protein sequence:
MGHFTEEDKATITSLWGKVNVEDAGGETLGRLLVVYPWTQRFFDSFGNLSSASAIMGNPQVKAHGKKVLTSLGDAIKHLDDLKGTFAQLSELHCDKLHVDPENFKLLGNVLVTVLAIHFGKEFTPEVQASWQKMVTGVASALSSRYH

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 43187
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: French, Spanish
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Pobedimskaya DD, Molchanova TP, Gu LH, Molina MA, de Pablos JM, Huisman TH, Hb F-Sacromonte or alpha 2G gamma (2)59(E3)Lys-->Gln observed in a Spanish newborn and his mother., Hemoglobin, 17(3), 269-74, 1993 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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