IthaID: 715

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	Benign / Likely Benign
Common Name:	CD 114 CCC>CTC [Pro>Leu]	HGVS Name:	NM_000558.3(HBA1):c.344C>T
Hb Name:	Hb Nouakchott	Protein Info:	α1 114(GH2) Pro>Leu

Context nucleotide sequence:
CTGGTGACCCTGGCCGCCCACCTCC [C/T] CGCCGAGTTCACCCCTGCGGTGCAC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLLAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

HbVar	dbSNP
OMIM	SwissVar
ClinVar

Phenotype

Hemoglobinopathy Group:	Structural Haemoglobinopathy
Hemoglobinopathy Subgroup:	α-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:	16
Locus:	NG_000006.1
Locus Location:	38189
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:	African, Dutch
Molecular mechanism:	N/A
Inheritance:	Recessive
DNA Sequence Determined:	Yes

In silico pathogenicity prediction

Publications / Origin

Wajcman H, Delaunay J, Francina A, Rosa J, Galacteros F, Hemoglobin Nouakchott [alpha 114(GH2)Pro----Leu]: a new hemoglobin variant displaying an unusual increase in hydrophobicity., Biochim. Biophys. Acta , 998(1), 25-31, 1989
Pondman KM, Brinkman JW, van der Straaten HM, Stroobants AK, Harteveld CL, Hb Nouakchott [α114(GH2)Pro→Leu; HBA1: c.344C>T], A Second and Third Case Described in Two Unrelated Dutch Families., Hemoglobin, 42(1), 51-53, 2018

Created on 2010-06-16 16:13:16, Last reviewed on 2024-04-12 10:44:39 (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	2014-04-14 17:16:36	The IthaGenes Curation Team	Reviewed. Added common name, reference and ClinVar link.
4	2021-04-07 12:28:49	The IthaGenes Curation Team	Reviewed. HGVS, protein name and Locus location corrected. Reference and Origin added.
5	2024-04-12 10:44:39	The IthaGenes Curation Team	Reviewed. HGVS name and Links corrected.

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