Researching SNPs Gaucher Disease

HGMD

• HGMD public: 88745
• HGMD professional: 123656
• Source: publications scanned both manually and automatically
• Background information
• Since 2009 only few mutations are added to the public version

HGMD, the Human Gene Mutation Database, contains germline mutations that are linked to human diseases. There are several types of mutations:

• missense/nonsense: codon codes for a different amino acid/premature stop codon
• splicing: a mutation that causes splicing
• regulatory: mutation affecting the regulation of gene expression
• small/gross deletions: mutation that deletes residues
• small/gross insertions: mutation that inserts residues
• small indels: insertion or deletion (maybe not recognizable)
• duplications: duplicated sequence pieces
• complex rearrangements: part of the sequence is placed somewhere else
• repeat variations: repeated varied parts of the sequence are placed somewhere else

Type	Count
Missense/nonsense	250
Splicing	15
Regulatory	0
Small deletions	26
Small insertions	13
Small indels	2
Gross deletions	3
Gross insertions/duplications	1
Complex rearrangements	15
Public total	325

         1          11         21         31         41         51         61         71        
Wildtype MEFSSPSREE CPKPLSRVSI MAGSLTGLLL LQAVSWASGA RPCIPKSFGY SSVVCVCNAT YCDSFDPPTF PALGTFSRYE
Missense MEFSSPSREE CPRPLSRVSI MAGSLTGLLL LQAVS!ASGA RPCIPKSFSY ISVLSVCNAT YCNSFDPPTF PALSTVSRYK
         81         91         101        111        121        131        141        151       
Wildtype STRSGRRMEL SMGPIQANHT GTGLLLTLQP EQKFQKVKGF GGAMTDAAAL NILALSPPAQ NLLLKSYFSE EGIGYNIIRV
Missense NIRSE!QMEL SMGPIQANHT GTGLPLTLQP E!!FQKANGF GGATTDAATL NILALSPPAQ NLLRKLCVSK EEIGYDISQA
         161        171        181        191        201        211        221        231       
Wildtype PMASCDFSIR TYTYADTPDD FQLHNFSLPE EDTKLKIPLI HRALQLAQRP VSLLASPWTS PTWLKTNGAV NGKGSLKGQP
Missense LVASCVFSIL TYP!EDTPHD FQLHNFSLPE ADTKLQILLS PQALQLA!CP V!PLDSS!PS LTRFKTKVEG NGKWPPEGQP
         241        251        261        271        281        291        301        311       
Wildtype GDIYHQTWAR YFVKFLDAYA EHKLQFWAVT AENEPSAGLL SGYPFQCLGF TPEHQRDFIA RDLGPTLANS THHNVRLLML
Missense EDICHQTRVR HCVKYLDACA EHKLQFWAVR A!NETPAVLL SVHHFQCQGL TPEQQ!DLTA HDLDATLANG THHNVRLPML
         321        331        341        351        361        371        381        391       
Wildtype DDQRLLLPHW AKVVLTDPEA AKYVHGIAVH WYLDFLAPAK ATLGETHRLF PNTMLFASEA CVGSKFWEQS VRLGSWDRGM
Missense DDQHLLPLHW AKVVLTDPEA AI!LHGIVVR RHLHFLDSAK AIPWKTHCLS PNTMPFASET YVGSKFGK!S LWLDF!D!GI
         401        411        421        431        441        451        461        471       
Wildtype QYSHSIITNL LYHVVGWTDW NLALNPEGGP NWVRNFVDSP IIVDITKDTF YKQPMFYHLG HFSKFIPEGS QRVGLVASQK
Missense QCRHGIIMKV LYHLVS!TA! KRDPNL!ERL IRLCTSFYSL FIVDITKHTI HQRRVVCHLD HFSEVIPEGS QGVGLVASQK
         481        491        501        511        521        531       
Wildtype NDLDAVALMH PDGSAVVVVL NRSSKDVPLT IKDPAVGFLE TISPGYSIHT YLWRRQ
Missense NDRDPVALMR PDGSPVVVMP KPSSKDVPLT IKYPAVSFPE TISPGYPTHI YLWRCR

dbSNP

• 47 Synonymous mutations
• 92 Missense mutations

           1          11         21         31         41         51         61         71        
Wildtype   MEFSSPSREE CPKPLSRVSI MAGSLTGLLL LQAVSWASGA RPCIPKSFGY SSVVCVCNAT YCDSFDPPTF PALGTFSRYE
Missense   MEFSSPSREE CPRPSGGVSV MAGSLTGLLL LQAVSWASGA CPCIPESFGY SSVVCVCNAT YYESFDPRTF PALGTLSCYK
Synonymous MEFSSPSREE CPKPLSRVSI MAGSLTGLLL LQAVSWASGA RPCIPKSFGY SSVVCVCNAT YCDSFDPPTF PALGTFSRYE
           81         91         101        111        121        131        141        151       
Wildtype   STRSGRRMEL SMGPIQANHT GTGLLLTLQP EQKFQKVKGF GGAMTDAAAL NILALSPPAQ NLLLKSYFSE EGIGYNIIRV
Missense   SRSSGQWMEL STGPIQANYT GTGLLLTLQP EQKFQKVKGF GGAMTDAAAL NILALSPPAQ NLLLKSYFSE EGIGYKISWV
Synonymous STRSGRRMEL SMGPIQANHT GTGLLLTLQP EQKFQKVKGF GGAMTDAAAL NILALSPPAQ NLLLKSYFSE EGIGYNIIRV
           161        171        181        191        201        211        221        231       
Wildtype   PMASCDFSIR TYTYADTPDD FQLHNFSLPE EDTKLKIPLI HRALQLAQRP VSLLASPWTS PTWLKTNGAV NGKGSLKGQP
Missense   LIASCVFSIL TYIYEDTPHD FQLHNFSLPE EDTKLNILLN PRALQLAQRP ISLLASPWTS LTRLKTKVEE NGKESLKGQP
Synonymous PMASCDFSIR TYTYADTPDD FQLHNFSLPE EDTKLKIPLI HRALQLAQRP VSLLASPWTS PTWLKTNGAV NGKGSLKGQP
           241        251        261        271        281        291        301        311       
Wildtype   GDIYHQTWAR YFVKFLDAYA EHKLQFWAVT AENEPSAGLL SGYPFQCLGF TPEHQRDFIA RDLGPTLANS THHNVRLLML
Missense   EDICHQTWAR YLVKFLDAYA EHKLQFWAVR AENEPSAGLL NGYPFQCLGF TPEHQRDFIA HDLDRTLANG THHNVRLLML
Synonymous GDIYHQTWAR YFVKFLDAYA EHKLQFWAVT AENEPSAGLL SGYPFQCLGF TPEHQRDFIA RDLGPTLANS THHNVRLLML
           321        331        341        351        361        371        381        391       
Wildtype   DDQRLLLPHW AKVVLTDPEA AKYVHGIAVH WYLDFLAPAK ATLGETHRLF PNTMLFASEA CVGSKFWEQS VRLGSWDRGM
Missense   DDQHLLLPQW AKVVLTDPEA AICVYGIAVH WYLDFLDPAK ATLGETHHLF PNTMLFASEA CVGSKFWEQS VQLGSWDQGI
Synonymous DDQRLLLPHW AKVVLTDPEA AKYVHGIAVH WYLDFLAPAK ATLGETHRLF PNTMLFASEA CVGSKFWEQS VRLGSWDRGM
           401        411        421        431        441        451        461        471       
Wildtype   QYSHSIITNL LYHVVGWTDW NLALNPEGGP NWVRNFVDSP IIVDITKDTF YKQPMFYHLG HFSKFIPEGS QRVGLVASQK
Missense   QCSHRIIMNL LYHVVGCTAW NIALNPKGGL IWVRTSVESP TIVDITKETL YKQPILCHLG HFSKFIPEGS QRVGLVASPK
Synonymous QYSHSIITNL LYHVVGWTDW NLALNPEGGP NWVRNFVDSP IIVDITKDTF YKQPMFYHLG HFSKFIPEGS QRVGLVASQK
           481        491        501        511        521        531       
Wildtype   NDLDAVALMH PDGSAVVVVL NRSSKDVPLT IKDPAVGFLE TISPGYSIHT YLWRRQ
Missense   NNLDAVALMR PDGSAVVVVL NRSFKDVPPT IKEPAVGFLE TISPGYSIHI YLWCHQ
Synonymous NDLDAVALMH PDGSAVVVVL NRSSKDVPLT IKDPAVGFLE TISPGYSIHT YLWRRQ