IthaID: 768

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	N/A
Common Name:	CD 138 TCC>CCC [Ser>Pro]	HGVS Name:	HBA1:c.415T>C \| HBA2:c.415T>C
Hb Name:	Hb Attleboro	Protein Info:	α2 or α1 138(H21) Ser>Pro
Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

Context nucleotide sequence:
GGCTTCTGTGAGCACCGTGCTGACC [C/T] CCAAATACCGTTAAGCTGGAGCCTC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTPKYR

External Links

HbVar	ClinVar
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:	Haemolytic anaemia [HP:0001878]

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	16
Locus:	NG_000006.1
Locus Location:	34449 or 38260
Size:	1 bp or 1 bp
Located at:	α1 or α2
Specific Location:	Exon 3

Other details

Type of Mutation:	Point-Mutation(Substitution)
Effect on Gene/Protein Function:	Missense codons (Protein Structure)
Ethnic Origin:	N/A
Molecular mechanism:	Altered secondary structure
Inheritance:	Recessive
DNA Sequence Determined:	No

In silico pathogenicity prediction

Publications / Origin

McDonald MJ, Michalski LA, Turci SM, Guillette RA, Jue DL, Johnson MH, Moo-Penn WF, Structural, functional, and subunit assembly properties of hemoglobin Attleboro [alpha 138 (H21) Ser----Pro], a variant possessing a site maturation at a critical C-terminal residue., Biochemistry , 29(1), 173-8, 1990

Created on 2010-06-16 16:13:16, Last reviewed on 2015-01-08 16:23:59 (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 12:26:12	The IthaGenes Curation Team	Reviewed. Added common name, allele and clinical phenotype, reference and ClinVar link.
4	2015-01-08 16:23:59	The IthaGenes Curation Team	Reviewed. Common name corrected.

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