IthaID: 757

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	Benign / Likely Benign
Common Name:	CD 133 AGC>AGA [Ser>Arg]	HGVS Name:	HBA2:c.402C>A
Hb Name:	Hb Val de Marne	Protein Info:	α2 133(H16) Ser>Arg

Context nucleotide sequence:
TGGACAAGTTCCTGGCTTCTGTGAG [C/A] ACCGTGCTGACCTCCAAATACCGTT (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVRTVLTSKYR

Also known as: Hb Footscray

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

HbVar	ClinVar
dbSNP	dbSNP
dbSNP	dbSNP
OMIM	SwissVar

Phenotype

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

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	16
Locus:	NG_000006.1
Locus Location:	34436
Size:	1 bp
Located at:	α2
Specific Location:	Exon 3

Other details

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

In silico pathogenicity prediction

Publications / Origin

Wajcman H, Kister J, M'Rad A, Marden MC, Riou J, Galacteros F, Hb Val de Marne [alpha 133(H16)Ser-->Arg]: a new hemoglobin variant with moderate increase in oxygen affinity., Hemoglobin , 17(5), 407-17, 1993
Owen MC, Hendy JG, Hb Footscray or alpha 133(H16) Ser-->Arg: a new hemoglobin variant., Hemoglobin , 18(1), 19-27, 1994
Ma ES, Chan AY, Lee AC, Molecular characterization of Hb Val de Marne [alpha133(H16)Ser-->Arg; AGC-->AGA; (alpha2)] in a Chinese family., Hemoglobin , 28(3), 213-6, 2004

Created on 2010-06-16 16:13:16, Last reviewed on 2021-04-07 12:45:42 (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 11:46:47	The IthaGenes Curation Team	Reviewed. Added common name, allele phenotype, references and ClinVar link.
4	2014-04-15 11:55:31	The IthaGenes Curation Team	Reviewed. Additional locations provided.
5	2021-04-07 12:45:42	The IthaGenes Curation Team	Reviewed. HGVS, protein name and Locus location corrected.

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