IthaID: 3723



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 132 GTG>GCG [Val>Ala] HGVS Name: HBA1:c.398T>C
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
TCCCTGGACAAGTTCCTGGCTTCTG [T/C] GAGCACCGTGCTGACCTCCAAATAC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASASTVLTSKYR

Also known as:

Comments: Reported in two related Malay individuals. Both were asymptomatic with Hb level range 11-15 g/dL, MCV 62-76 fL, MCH 19-25 pg and HbA2 of 2.2-2.7%. Based on mutation taster, this is prediction disease causing.

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: 38243
Size: 1 bp
Located at: α1
Specific Location: Exon 3

Other details

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

Sequence Viewer

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Publications / Origin

To the best of our knowledge, this is unpublished data.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

Microattributions

A/AContributor(s)DateComments
1Mohd Yasin, Norafiza 2020-11-24First report.
Created on 2021-02-02 17:12:54, Last reviewed on 2021-02-08 10:05:50 (Show full history)

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