IthaID: 1490


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 134 GTG>ATG HGVS Name: HBG1:c.403G>A
Hb Name: Hb F-Jiangsu Protein Info: Aγ 134(H12) Val>Met

Context nucleotide sequence:
GGTGCAGGCTTCCTGGCAGAAGATG [A/G] TGACTGCAGTGGCCAGTGCCCTGTC (Strand: -)

Protein sequence:
MGHFTEEDKATITSLWGKVNVEDAGGETLGRLLVVYPWTQRFFDSFGNLSSASAIMGNPKVKAHGKKVLTSLGDATKHLDDLKGTFAQLSELHCDKLHVDPENFKLLGNVLVTVLAIHFGKEFTPEVQASWQKMMTAVASALSSRYH

Also known as:

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: 49216
Size: 1 bp
Located at:
Specific Location: Exon 3

Other details

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

Publications / Origin

  1. Plaseska D, Kutlar F, Wilson JB, Webber BB, Zeng YT, Huisman TH, Hb F-Jiangsu, the first gamma chain variant with a valine----methionine substitution: alpha 2A gamma 2 134(H12)Val----Met., Hemoglobin, 14(2), 177-83, 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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