IthaID: 779

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	Benign / Likely Benign
Common Name:	CD 141 CGT>GGT [Arg>Gly]	HGVS Name:	NM_000558.3(HBA1):c.424C>G
Hb Name:	Hb J-Camagüey	Protein Info:	α1 141(HC3) Arg>Gly

Context nucleotide sequence:
GAGCACCGTGCTGACCTCCAAATAC [C/G] GTTAAGCTGGAGCCTCGGTAGCCGT (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYG

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

HbVar	dbSNP
OMIM	ClinVar

Phenotype

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

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	16
Locus:	NG_000006.1
Locus Location:	38269
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:	Australian, Chinese, Spanish
Molecular mechanism:	N/A
Inheritance:	Recessive
DNA Sequence Determined:	Yes

In silico pathogenicity prediction

Publications / Origin

Martinez G, Lima F, Residenti C, Colombo B, Hb J Camaguey alpha 2 141(HC3) Arg replaced by Gly beta 2: a new abnormal human hemoglobin., Hemoglobin , 2(1), 47-52, 1978
Xiong F, Yang KG, Liang CC, Huang YW, Wang RX, Zhang NJ, A case of Hb J-Camaguey or alpha 2141(HC3)Arg----Gly beta 2 in a Chinese family., Hemoglobin , 8(4), 397-9, 1984
Brennan SO, Lowrey IR, Harris MG, Rodwell R, Zarkos K, Wilkinson T, Yakas J, Kronenberg H, Hb J-Camaguey [alpha 141(HC3)Arg----Gly] associated with alpha-thalassemia-1 in an Australian family., Hemoglobin , 15(4), 303-7, 1991
Romero MJ, Garrido ML, Abril E, Garrido F, de Pablos JM, Detection of Hb J-Camagüey [alpha 141(HC3)Arg-->Gly] in three Spanish families., Hemoglobin , 19(5), 287-9, 1995
de la Fuente-Gonzalo F, Sala F, Ropero P, González FA, [First world case of -α3,7-associated Hb J-Camagüey]., Med Clin (Barc), 138(9), 412-3, 2012

Created on 2010-06-16 16:13:16, Last reviewed on 2024-04-12 11:31:44 (Show full history)

A/A	Date	Curator(s)	Comments
1	2010-06-16 16:13:16	The IthaGenes Curation Team	Created
2	2013-10-15 17:00:14	The IthaGenes Curation Team	Reviewed.
3	2014-04-15 13:05:09	The IthaGenes Curation Team	Reviewed. Added common name, allele phenotype, references and ClinVar link.
4	2021-04-07 12:53:17	The IthaGenes Curation Team	Reviewed. HGVS, protein name and Locus location corrected. Reference added.
5	2024-04-12 11:31:44	The IthaGenes Curation Team	Reviewed. HGVS name and Links corrected.

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