IthaID: 3482



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 113 CTC>TTC [Leu>Phe] HGVS Name: HBA2:c.340C>T
Hb Name: Hb Pretoria Protein Info: N/A

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHFPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

Comments: Detected as a silent variant in three related female subjects from South Africa. It was detected with Trinity's BioTech Premier Resolution device. It was not visible by CE separation using the Sebia Capillarys Flex Piercing.

External Links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34374
Size: 1 bp
Located at: α2
Specific Location: Exon 3

Phenotype

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: South African
Inheritance: Recessive
DNA Sequence Determined: No

Sequence Viewer

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Publications / Origin

To the best of our knowledge, this is unpublished data.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

Created on 2019-10-18 12:16:24, Last reviewed on 2019-11-15 13:55:39 (Show full history)

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