IthaID: 2956



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Benign / Likely Benign
Common Name: CD 91 CTT>CAT [Leu>His] HGVS Name: HBA2:c.275T>A
Hb Name: Hb Kalavasos Protein Info: α2 91(FG3) Leu>His

Context nucleotide sequence:
CTGAGCGACCTGCACGCGCACAAGC [T/A] TCGGGTGGACCCGGTCAACTTCAAG  (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKHRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External 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: 34167
Size: 1 bp
Located at: α2
Specific Location: Exon 2

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Kelany M, Pickersgill JS, Al Hasso N, Viljoen A, van Bijlen N, Besser MW, Hb Kalavasos [HBA2: c.275T > A; p.Leu92His]: a Novel α Chain Hemoglobin Variant., Hemoglobin , 40(5), 345-348, 2016 PubMed
Created on 2016-08-23 11:33:00, Last reviewed on 2017-02-14 09:46:35 (Show full history)

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