IthaID: 1413


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 15 TGG>CGG HGVS Name: HBG2:c.46T>C
Hb Name: Hb F-Catalonia Protein Info: Gγ 15(A12) Trp>Arg

Context nucleotide sequence:
GGACAAGGCTACTATCACAAGCCTG [C/T] GGGGCAAGGTGAATGTGGAAGATGC (Strand: -)

Protein sequence:
MGHFTEEDKATITSLRGKVNVEDAGGETLGRLLVVYPWTQRFFDSFGNLSSASAIMGNPKVKAHGKKVLTSLGDAIKHLDDLKGTFAQLSELHCDKLHVDPENFKLLGNVLVTVLAIHFGKEFTPEVQASWQKMVTGVASALSSRYH

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: 42933
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: Spanish
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Publications / Origin

  1. Plaseska D, Wilson JB, Kutlar F, Font L, Baiget M, Huisman TH, Hb F-Catalonia or alpha 2G gamma(2)15(A12)Trp----Arg., Hemoglobin, 14(5), 511-6, 1990
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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