IthaID: 1422


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 25 GGA>GAA HGVS Name: HBG2:c.77G>A
Hb Name: Hb F-Cosenza Protein Info: Gγ 25(B7) Gly>Glu

Context nucleotide sequence:
AAGGTGAATGTGGAAGATGCTGGAG [A/G] AGAAACCCTGGGAAGGTAGGCTCTG (Strand: -)

Protein sequence:
MGHFTEEDKATITSLWGKVNVEDAGEETLGRLLVVYPWTQRFFDSFGNLSSASAIMGNPKVKAHGKKVLTSLGDAIKHLDDLKGTFAQLSELHCDKLHVDPENFKLLGNVLVTVLAIHFGKEFTPEVQASWQKMVTGVASALSSRYH

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 42964
Size: 1 bp
Located at:
Specific Location: Exon 1

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Italian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Publications / Origin

  1. Qualtieri A, Crescibene L, Bagalà A, De Marco EV, Bria M, Brancati C, Hb F-Cosenza or G gamma 25(B7)Gly----Glu: a new fast-moving fetal hemoglobin variant., Hemoglobin, 15(6), 509-15, 1991
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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