IthaID: 3271


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 119 CCT>GCT [Pro>Ala] HGVS Name: HBA2:c.358C>G
Hb Name: Hb Arcadia Protein Info: α2 119(H2) Pro>Ala

Context nucleotide sequence:
TGGCCGCCCACCTCCCCGCCGAGTTCACC [C/G] CTGCGGTGCACGCCTCCCTGGACAAGTTC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTAAVHASLDKFLASVSTVLTSKYR

Also known as: Hb Lakeview Terrace

Comments: Co-inherited with SEA deletion, red cell indices are consistent with this finding. HPLC findings, appears as shoulder of Hb A peak (Primus Resolution). Recently, the variant reported in compound heterozygosity with Hb D-Los Angeles [IthaID: 1217] in a 11-month old infant presented with Hb 12.1 g/dL, MCH 24.1 pg, MCHC 33.8 g/dL, MCV 71.3 fL and RBC 5.02 10^12/L.

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: Unstable
Oxygen Affinity: N/A
Associated Phenotypes: N/A

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34392
Size: 1 bp
Located at: α2
Specific Location: Exon 3

Other details

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

In silico pathogenicity prediction

Publications / Origin

To the best of our knowledge, this is unpublished data.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

Microattributions

A/AContributor(s)DateComments
1Daniel, Yvonne2017-10-26First report.
2Monteiro, Daniel2017-10-26First report.
Created on 2017-10-26 14:31:13, Last reviewed on 2021-02-02 16:37:18 (Show full history)

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