Ovine Congenital NCL (CONCL)/CTSD

Swedish landrace sheep

No. of disease causing mutations: 1

Identifier Nucleotide change Mutation Amino acid change/  Predicted consequence Location Restriction site change Reference
octsd.001 c.???G>A Missense

p.Asp269Asn

p.D269N

 
Tyynela et al. 2000 EMBO J 19:2786-2792

cDNA:   AF164143

Genomic sequence:

The mutation at residue D269 of ovine CTSD corresponds to D295 of the human gene, and occurs at the equivalent nucleotide residue to G934 of the human CTSD cDNA

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