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Last update

21/6/2017

Gene: CD59 molecule, complement regulatory protein; CD59

Gene Symbol: CD59
OMIM: 107271
Chromosome location: 11p13

Related informations: NCBI Gene Genome Browser UniProt GeneCards Kyoto Encyclopedia BioGPS HGNC HPRD

Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy || c.266G>A

Phenotype:	Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy
Dna Change:	c.266G>A
Protein Change:	p.Cys89Tyr
Mutation Type:	Substitution
Mutation Effect:	Missense
Location:	exon 6
Transcript:	NM_203330.2

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Libya	Jews	NA	4 patients	NA	Nevo Y et al., 2013Nevo Y, Ben-Zeev B, Tabib A, Straussberg R, Anikster Y, Shorer Z, Fattal-Valevski A, Ta-Shma A, Aharoni S, Rabie M, Zenvirt S, Goldshmidt H, Fellig Y, Shaag A, Mevorach D, Elpeleg O, . CD59 deficiency is associated with chronic hemolysis and childhood relapsing immune-mediated polyneuropathy.. Blood. 2013; 121(1):129-35

References

Nevo Y, Ben-Zeev B, Tabib A, Straussberg R, Anikster Y, Shorer Z, Fattal-Valevski A, Ta-Shma A, Aharoni S, Rabie M, Zenvirt S, Goldshmidt H, Fellig Y, Shaag A, Mevorach D, Elpeleg O, CD59 deficiency is associated with chronic hemolysis and childhood relapsing immune-mediated polyneuropathy.Blood. 2013; 121(1):129-35

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Gene: CD59 molecule, complement regulatory protein; CD59

References