IthaID: 1492



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 136 GCA>GGA HGVS Name: HBG1:c.410C>G
Hb Name: Hb F-Charlotte Protein Info: Aγ 136(H14) Ala>Gly

Context nucleotide sequence:
GCTTCCTGGCAGAAGATGGTGACTG [C/G] AGTGGCCAGTGCCCTGTCCTCCAGA (Strand: -)

Protein sequence:
MGHFTEEDKATITSLWGKVNVEDAGGETLGRLLVVYPWTQRFFDSFGNLSSASAIMGNPKVKAHGKKVLTSLGDATKHLDDLKGTFAQLSELHCDKLHVDPENFKLLGNVLVTVLAIHFGKEFTPEVQASWQKMVTGVASALSSRYH

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 49223
Size: 1 bp
Located at:
Specific Location: Exon 3

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: African-American
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Plaseska D, Kutlar F, Wilson JB, Fei YJ, Huisman TH, Hb F-Charlotte, an A gamma variant with a threonine residue in position gamma 75 and a glycine residue in position gamma 136., Hemoglobin, 14(6), 617-25, 1990 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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