IthaID: 3890


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 18 GGC>TGC [Gly>Cys] HGVS Name: HBA2:c.55G>T
Hb Name: Hb Jiujiang Protein Info: α2 18(A16) Gly>Cys

Context nucleotide sequence:
CGTCAAGGCCGCCTGGGGTAAGGTC [G/T] GCGCGCACGCTGGCGAGTATGGTGC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVCAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links

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

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 172967
Size: 1 bp
Located at: α2
Specific Location: Exon 1

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

In silico pathogenicity prediction

Publications / Origin

  1. Lei YL, Liang YM, Cao Q, Sui H, Li DZ, A New Hemoglobin Variant: Hb Jiujiang [α18(A16)Gly→Cys, : c.55G>T]., Hemoglobin, 45(4), 254-255, 2021
Created on 2022-02-07 12:41:04, Last reviewed on (Show full history)

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