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.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

HbVar

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

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

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

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

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 PubMed

Created on 2019-04-05 12:18:20, Last reviewed on (Show full history)

A/A	Date	Curator(s)	Comments
1	2019-04-05 12:18:20	The IthaGenes Curation Team	Created

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