Hedgehog Signaling Pathway Database
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Hh Pathway
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Human Mutations -
ARRB2
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
I > I
82
S
DBSNP:rs9915175
S > S
280
S
DBSNP:rs1045280
intronic
4561288
A G
forward
DBSNP:rs11868227
intronic
4561346
C T
forward
DBSNP:rs4790693
intronic
4561838
A G
forward
DBSNP:rs8070994
intronic
4561847
A G
forward
DBSNP:rs3786047
intronic
4563027
A T
forward
DBSNP:rs9891380
intronic
4563031
A T
forward
DBSNP:rs4790222
intronic
4563039
A T
forward
DBSNP:rs4790223
intronic
4564727
A G
forward
DBSNP:rs9906254
intronic
4565221
A G
forward
DBSNP:rs16954146
intronic
4565223
C T
forward
DBSNP:rs9906616
intronic
4565544
C T
forward
DBSNP:rs9914134
intronic
4565764
A C
forward
DBSNP:rs11658505
Associated Disease
Nucleotide Position
WT > VAR
Strand
Mutation Type
WT > VAR
AA #
Synonymous / Non-Synonymous
Exon / Intron
MutDB Position Id
Ptch Mutation DB Listing
NCBI Id
Reference
intronic
4568522
G T
forward
DBSNP:rs4522461
intronic
4568820
C G
forward
DBSNP:rs2036656
intronic
4568891
C T
forward
DBSNP:rs7218699
intronic
4568986
C T
forward
DBSNP:rs7218873
intronic
4569629
A G
forward
DBSNP:rs2271167
Untranslated
4571446
A G
reverse
DBSNP:rs14540
Last updated 28-Aug-2006
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