IthaID: 3000


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 18 GGC>AGC [ Gly>Ser] HGVS Name: HBA1:c.55G>A
Hb Name: Hb King Ecgbert Protein Info: α1 18(A16) Gly>Ser

Context nucleotide sequence:
CGTCAAGGCCGCCTGGGGTAAGGTC [G>A] GCGCGCACGCTGGCGAGTATGGTGC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVSAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

Comments: Found as a heterozygote with normal clinical presentation. The variant showed mild instability with the isopropanol test.

External Links

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-chain variant
Allele Phenotype:Silent Hb
Stability: Unstable
Oxygen Affinity: N/A
Associated Phenotypes: N/A

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 37634
Size: 1 bp
Located at: α1
Specific Location: Exon 1

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: British
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Publications / Origin

To the best of our knowledge, this is unpublished data. Please use with caution!

Created on 2016-08-24 09:48:40, Last reviewed on 2016-08-25 10:08:20 (Show full history)

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