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Mutations on the Protein: P23415 From Positions: 251 To 274

6
1
0
5


Swiss-Prot Disease: VAR_000296
p.ILE272ASN
N/A
N/A
Hyperekplexia 1 (HKPX1)


OMIM Disease: 138491.0002
p.ARG271GLN
N/A
N/A
HYPEREKPLEXIA 1, AUTOSOMAL DOMINANT


OMIM Disease: 138491.0001
p.ARG271LEU
N/A
N/A
HYPEREKPLEXIA 1, AUTOSOMAL DOMINANT


OMIM Disease: 138491.0005
p.GLN266HIS
N/A
N/A
HYPEREKPLEXIA 1, AUTOSOMAL DOMINANT


OMIM Disease: 138491.0015
p.SER267ASN
N/A
N/A
HYPEREKPLEXIA 1, AUTOSOMAL DOMINANT


OMIM Disease: 138491.0011
p.VAL260MET
N/A
N/A
HYPEREKPLEXIA 1, AUTOSOMAL DOMINANT






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