IthaID: 1406


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 1 GGT>TGT HGVS Name: HBG2:c.4G>T
Hb Name: Hb F-Malaysia Protein Info: Gγ 1(NA1) Gly>Cys

Context nucleotide sequence:
ATAAGCTCCTAGTCCAGACGCCATG [G/T] GTCATTTCACAGAGGAGGACAAGGC (Strand: -)

Protein sequence:
MCHFTEEDKATITSLWGKVNVEDAGGETLGRLLVVYPWTQRFFDSFGNLSSASAIMGNPKVKAHGKKVLTSLGDAIKHLDDLKGTFAQLSELHCDKLHVDPENFKLLGNVLVTVLAIHFGKEFTPEVQASWQKMVTGVASALSSRYH

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: 42891
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: Chinese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Publications / Origin

  1. Eng LI, Kamuzora H, Lehmann H, Haemoglobin F Malaysia: alpha 2, gamma 2 1(NA1) glycine--cysteine; 136 glycine., Journal of medical genetics, 11(1), 25-30, 1974
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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