Mutation details:

Protein level identifier (n.a.):

p.Gly559Asp

cDNA level identifier (n.a.):

c.1676G>A

Gene level identifier:

g.81386G>A

Reference, alternative allele:

G, A

Genomic location

not available

Gene name:

SPAST

Consequence:

missense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

26

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

36 heterozygous (36 in total).