IthaID: 1426


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 40 AGG>GGG HGVS Name: HBG2:c.121A>G
Hb Name: Hb F-Veleta Protein Info: Gγ 40(C6) Arg>Gly

Context nucleotide sequence:
CCTGGTTGTCTACCCATGGACCCAG [A/G] GGTTCTTTGACAGCTTTGGCAACCT (Strand: -)

Protein sequence:
MGHFTEEDKATITSLWGKVNVEDAGGETLGRLLVVYPWTQGFFDSFGNLSSASAIMGNPKVKAHGKKVLTSLGDAIKHLDDLKGTFAQLSELHCDKLHVDPENFKLLGNVLVTVLAIHFGKEFTPEVQASWQKMVTGVASALSSRYH

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: 43130
Size: 1 bp
Located at:
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Spanish
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Publications / Origin

  1. de Pablos Gallego JM, Gu LH, Leonova JYe , Huisman TH, Hb F-Veleta or alpha 2 G gamma(2)40(C6)Arg-->Gly., Hemoglobin, 19(6), 407-11, 1995
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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