Hedgehog Signaling Pathway Database
 
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