IthaID: 2995



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 28 GCC>ACC [Ala>Thr] HGVS Name: HBA1:c.85G>A
Hb Name: Hb Bramall Lane Protein Info: α1 28(B9) Ala>Thr

Context nucleotide sequence:
GCACGCTGGCGAGTATGGTGCGGAG [G>A] CCCTGGAGAGGTGAGGCTCCCTCCC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAETLERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

Comments: Found as a heterozygote with mild erythrocytosis. Hb Bramall Lane is potentially an Hb variant with high oxygen affinity given its clinical presentation; not verified experimentally.

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: Increased Oxygen Affinity
Associated Phenotypes: N/A

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 37664
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: Pakistani
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

To the best of our knowledge, this is unpublished data.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

Created on 2016-08-23 18:05:04, Last reviewed on 2016-08-25 09:41:37 (Show full history)

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