IthaID: 348

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	N/A
Common Name:	-α3.7;CD 14 TGG>CGG	HGVS Name:	N/A
Hb Name:	Hb Evanston	Protein Info:	N/A

Also known as:

Comments: The missense mutation HBA1:c.43T>C found in the context of a −α3.7 thalassaemia chromosome.

External Links

ClinVar

Phenotype

Hemoglobinopathy Group:	Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup:	α-thalassaemia, α-chain variant
Allele Phenotype:	α0
Stability:	N/A
Oxygen Affinity:	N/A
Associated Phenotypes:	Haemolytic anaemia [HP:0001878]

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	16
Locus:	NG_000006.1
Locus Location:	N/A
Size:	1 bp
Located at:	α3.7 hybrid
Specific Location:	Exon 1

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Frequencies

Publications / Origin

Honig GR, Shamsuddin M, Vida LN, Mompoint M, Valcourt E, Bowie LJ, Jones EC, Powers PA, Spritz RA, Guis M, Hemoglobin Evanston (alpha 14 Trp----Arg). An unstable alpha-chain variant expressed as alpha-thalassemia., The Journal of clinical investigation, 73(6), 1740-9, 1984 PubMed
Harteveld CL, Wijermans PW, de Ree JE, Ter Hal P, Van Delft P, Van Rooijen-Nijdam IH, Rasp E, Kok PJ, Souverijn JH, Versteegh FG, Giordano PC, A new Hb evanston allele [alpha14(A12)Trp --> Arg] found solely, and in the presence of common alpha-thalassemia deletions, in three independent Asian cases., Hemoglobin , 28(1), 1-5, 2004 PubMed

Created on 2010-06-16 16:13:15, Last reviewed on 2021-11-04 11:47:34 (Show full history)

A/A	Date	Curator(s)	Comments
1	2010-06-16 16:13:15	The IthaGenes Curation Team	Created
2	2013-10-15 17:28:32	The IthaGenes Curation Team	Reviewed.
3	2020-10-02 10:41:12	The IthaGenes Curation Team	Reviewed. Comment added. Location corrected.
4	2021-11-04 11:47:34	The IthaGenes Curation Team	Reviewed. Common name corrected. HGVS name deleted. Reference and Origin added.

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