IthaID: 3397


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 51 GGC>TGC [Gly>Cys] HGVS Name: HBA2:c.154G>T
Hb Name: Hb Hunan Protein Info: α2 51(CE9) Gly>Cys

Context nucleotide sequence:
CTTCCCGCACTTCGACCTGAGCCAC [G/T] GCTCTGCCCAGGTTAAGGGCCACGG (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHcSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

Comments: Its chromatographic profile suggests interference during the monitoring of glycated haemoglobin (HbA1c).

External Links

No available links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34046
Size: 1 bp
Located at: α2
Specific Location: Exon 2

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-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: Missense codons (Protein Structure)
Ethnic Origin: Chinese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Publications / Origin

  1. Xu A, Lei J, Li J, Chen W, Zhou Y, Zheng R, Li X, Ji L, Hb Hunan and Hb Hengyang: Two unexpected discoveries during HbA1c measurements., Clin. Chem. Lab. Med., 2019
Created on 2019-04-11 16:14:20, Last reviewed on 2019-04-12 14:17:18 (Show full history)

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