IthaID: 3917


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 67 GTG>ATG [Val>Met] HGVS Name: HBG1:c.202G>A
Hb Name: Hb Toms River Protein Info: Αγ 67(E11) Val>Met

Context nucleotide sequence:
AAAGTCAAGGCACATGGCAAGAAG [G/A] TGCTGACTTCCTTGGGAGATGCCA (Strand: -)

Protein sequence:
MGHFTEEDKATITSLWGKVNVEDAGGETLGRLLVVYPWTQRFFDSFGNLSSASAIMGNPKVKAHGKKMLTSLGDATKHLDDLKGTFAQLSELHCDKLHVDPENFKLLGNVLVTVLAIHFGKEFTPEVQASWQKMVTAVASALSSRYH

Also known as:

Comments: Found in a newborn girl with persistent SpO2 of 83-90%. The Hb variant can mimic cyanotic congenital heart disease.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 48135
Size: 1 bp
Located at:
Specific Location: Exon 2

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

  1. Abecasis F, Marques I, Bento C, Ferrão A, A novel haemoglobin variant mimicking cyanotic congenital heart disease., BMJ Case Rep, 2016(0), 0, 2016
Created on 2022-04-19 09:34:09, Last reviewed on 2022-04-19 09:35:57 (Show full history)

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