IthaID: 3369


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 63 CAT>CTT [His>Leu] HGVS Name: HBG2:c.191A>T
Hb Name: Hb F-Circleville Protein Info: N/A

Context nucleotide sequence:
CATGGGCAACCCCAAAGTCAAGGCAC [A/T] TGGCAAGAAGGTGCTGACTTCCTT (Strand: -)

Protein sequence:
MGHFTEEDKATITSLWGKVNVEDAGGETLGRLLVVYPWTQRFFDSFGNLSSASAIMGNPKVKALGKKVLTSLGDAIKHLDDLKGTFAQLSELHCDKLHVDPENFKLLGNVLVTVLAIHFGKEFTPEVQASWQKMVTGVASALSSRYH

Also known as:

Comments: Found in a heterozygous state. Presented with cyanosis at birth. Although Hb-F Circleville occurs due to a leucine replacement at residue 63, where the distal histidine is located, and causes clinical symptoms that are similar to Hb F-M Osaka [IthaID: 1433], it will be necessary to measure methemoglobin to name this variant an new M Hb.

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 43200
Size: 1 bp
Located at:
Specific Location: Exon 2

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

Other details

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

Publications / Origin

  1. Dainer E, Shell R, Miller R, Atkin JF, Pastore M, Kutlar A, Zhuang L, Holley L, Davis DH, Kutlar F, Neonatal cyanosis due to a novel fetal hemoglobin: Hb F-Circleville [Ggamma63(E7)His-->Leu, CAT>CTT]., Hemoglobin, 32(6), 596-600, 2008
Created on 2019-04-05 12:18:20, Last reviewed on (Show full history)

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