Table 1
Mutations and polymorphisms identified in
ESPN
(GenBank accession number NM_031475)
Exon
Nucleotide
Protein
Mutation
EX10
A2155C
S719R
EX10
G2230A
D744N
EX10
G2321A
R774Q
EX13
2541-2543delAAG
delK848
Polymorphism
EX2
C390U
Silent
EX3
C564G
Silent
EX3
A591G
Silent
EX3
G627A
Silent
EX5
G909C
Silent
EX8
T1476C
Silent