IthaID: 3718


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 95 CCG>CTG [Pro>Leu] HGVS Name: HBA1:c.287C>T
Hb Name: Hb Georgia Protein Info: N/A

Context nucleotide sequence:
TGCACGCGCACAAGCTTCGGGTGGACC [C/T] GGTCAACTTCAAGGTGAGCGGCGGGCC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDLVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

Comments: Found in three heterozygous clinically asymptomatic Malay cases presented with Hb range 11.7-14.8 g/dL, MCV 69.1-80.8 fL and MCH 24.5-26.8 pg. CE shows normal level of HbA2 and an abnormal peak (9.3-18%) at zone 7. HPLC shows no abnormal peak with normal Hb F level. The mutation also reported in compound heterozygosity with SEA deletion [IthaID: 309]. The patient presented with reduced Hb 8.0 g/dL, MCV 62.1 fL and MCH 19.3 pg. CE shows abnormal Hb 30.9 % at zone 7 and HbH 5 %. Normal level of HbF detected with HPLC.

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: 37983
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

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To the best of our knowledge, this is unpublished data.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 2021-01-30 14:33:20, Last reviewed on 2021-02-01 11:33:04 (Show full history)

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