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Last update

21/6/2017

Phenotype: Elliptocytosis-2

OMIM: 130600
Inheritance: Autosomal dominant
Classification: Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials

SPTA1 || c.444_445insTTG

Gene/Locus:	SPTA1
Dna Change:	c.444_445insTTG
Protein Change:	p.Leu148dup
Mutation Type:	Insertion
Mutation Effect:
Location:	exon 4
Transcript:	NM_003126.2

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Algeria	NA	NA	5 unrelated North African patients	NA	Roux AF et al., 1989Roux AF, Morlé F, Guetarni D, Colonna P, Sahr K, Forget BG, Delaunay J, Godet J, . Molecular basis of Sp alpha I/65 hereditary elliptocytosis in North Africa: insertion of a TTG triplet between codons 147 and 149 in the alpha-spectrin gene from five unrelated families.. Blood. 1989; 73(8):2196-201

References

Roux AF, Morlé F, Guetarni D, Colonna P, Sahr K, Forget BG, Delaunay J, Godet J, Molecular basis of Sp alpha I/65 hereditary elliptocytosis in North Africa: insertion of a TTG triplet between codons 147 and 149 in the alpha-spectrin gene from five unrelated families.Blood. 1989; 73(8):2196-201

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Phenotype: Elliptocytosis-2

References