IthaID: 1488


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 128 GCT>ACT HGVS Name: HBG1:c.385G>A
Hb Name: Hb F-Baskent Protein Info: Aγ 128(H6) Ala>Thr

Context nucleotide sequence:
CAAAGAATTCACCCCTGAGGTGCAG [A/G] CTTCCTGGCAGAAGATGGTGACTGC (Strand: -)

Protein sequence:
MGHFTEEDKATITSLWGKVNVEDAGGETLGRLLVVYPWTQRFFDSFGNLSSASAIMGNPKVKAHGKKVLTSLGDATKHLDDLKGTFAQLSELHCDKLHVDPENFKLLGNVLVTVLAIHFGKEFTPEVQTSWQKMVTAVASALSSRYH

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: 49198
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: Turkish
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

Publications / Origin

  1. Altay C, Gurgey A, Wilson JB, Hu H, Webber BB, Kutlar F, Huisman TH, Hb F-Baskent or alpha 2A gamma 128(H6)Ala----Thr., Hemoglobin, 12(1), 87-9, 1988
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:00:14 (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.