SPTA1

Gene name: spectrin, alpha, erythrocytic 1 (elliptocytosis 2)
OMIM ID: 182860
Chromosome location: 1q23.1

Mutations

Disease/Phenotype	Elliptocytosis 2
Reference transcript	NM_003126.2
DNA Change	c.620T>C
A.A. Change	p.Leu207Pro
Exon/Intron	exon 5
Mutation Type	substitution
Reference	Dalla Venezia N, Wilmotte R, Morl? L, Forissier A, Parquet N, Garbarz M, Rousset T, Dhermy D, Alloisio N, Delaunay J.An alpha-spectrin mutation responsible for hereditary elliptocytosis associated in cis with the alpha v/41 polymorphism. Hum Genet. 1993 Feb;90(6):641-4.

---