IthaID: 1485

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	N/A
Common Name:	CD 121 GAA>AAA [Glu>Lys]	HGVS Name:	HBG1:c.364G>A
Hb Name:	Hb F-Hull	Protein Info:	Aγ 121(GH4) Glu>Lys

Context nucleotide sequence:
CGTTTTGGCAATCCATTTCGGCAAA [G>A] AATTCACCCCTGAGGTGCAGGCTTC (Strand: -)

Protein sequence:
MGHFTEEDKATITSLWGKVNVEDAGGETLGRLLVVYPWTQRFFDSFGNLSSASAIMGNPKVKAHGKKVLTSLGDATKHLDDLKGTFAQLSELHCDKLHVDPENFKLLGNVLVTVLAIHFGKKFTPEVQASWQKMVTAVASALSSRYH

Also known as: Hb F-Siena

Comments: Initially found as an electrophoretically slow component of the cord-blood haemoglobin (Hb) of three normal babies, making up 7-14% of the total Hb, and was characterized by protein analysis as a glutamic acid > lysine sustitution at position 121 in the γ-chain [PMID: 6038320]. Further characterization reported that this variant occurs in a Αγ chain [PMID: 4710228]. Molecular analysis with selected restriction endonucleases characterized Hb F-Hull as a GAA > AAA change at position Αγ121 [PMID: 2412617].

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

HbVar	dbSNP
ClinVar

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:	49177
Size:	1 bp
Located at:	Aγ
Specific Location:	Exon 3

Other details

Type of Mutation:	Point-Mutation(Substitution)
Effect on Gene/Protein Function:	N/A
Ethnic Origin:	English, Italian
Molecular mechanism:	N/A
Inheritance:	Recessive
DNA Sequence Determined:	Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

Sacker LS, Beale D, Black AJ, Huntsman RG, Lehmann H, Lorkin PA, Haemoglobin F Hull (gamma-121 glutamic acid--lysine), homologous with haemoglobins O Arab and O Indonesia., British medical journal, 3(5564), 531-3, 1967 PubMed
Ahern EJ, Ahern V, Wiltshire BG, Lehmann H, Further characterization of haemoglobin F Hull 121 glutamic acid leads to lysine; 136 alanine., Biochim Biophys Acta, 303(2), 242-5, 1973 PubMed
Carè A, Marinucci M, Massa A, Maffi D, Sposi NM, Improta T, Tentori L, Hb F-Siena (alpha 2 a gamma t2 121 (GH4) Glu leads to Lys). A new fetal hemoglobin variant., Hemoglobin, 7(1), 79-83, 1983 PubMed
Nakatsuji T, Burnley MS, Huisman TH, Fetal hemoglobin variants identified in adults through restriction endonuclease gene mapping methodology., Blood, 66(4), 803-7, 1985 PubMed

Created on 2010-06-16 16:13:17, Last reviewed on 2023-04-28 14:31:35 (Show full history)

A/A	Date	Curator(s)	Comments
1	2010-06-16 16:13:17	The IthaGenes Curation Team	Created
2	2013-10-15 17:00:14	The IthaGenes Curation Team	Reviewed.
3	2023-04-28 14:31:35	The IthaGenes Curation Team	Reviewed. References, Comment and Links added.

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