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|
ID M20132:(362)c.+4G>A; E2K
Feature DNA; 1
Feature /label: point, transition
Feature /proof: computed
Feature /location: 4
Feature /upflank: gaagattcagccaagctcaaggatg
Feature /change: g>a
Feature /dnflank: aagtgcagttagggctgggaagggt
Feature /re_site: -BccI
Feature RNA; 1
Feature /label: missense
Feature /proof: experimental
Feature /location: 4 (M20132::366)
Feature /upflank: gaagattcagccaagctcaaggatg
Feature /change: g>a
Feature /dnflank: aagtgcagttagggctgggaagggt
Feature /re_site: -BccI
Feature /codon_table: 1
Feature /codon: gaa>aaa; 1
Feature /region: coding
Feature AA; 1
Feature /label: substitution, conservative
Feature /proof: computed
Feature /location: 2
Feature /change: E>K
//
ID M20132:(362)c.+14T>A; L5X
Feature DNA; 1
Feature /label: point, transversion
Feature /proof: computed
Feature /location: 14
Feature /upflank: ccaagctcaaggatggaagtgcagt
Feature /change: t>a
Feature /dnflank: agggctgggaagggtctaccctcgg
Feature RNA; 1
Feature /label: nonsense
Feature /proof: experimental
Feature /location: 14 (M20132::376)
Feature /upflank: ccaagctcaaggatggaagtgcagt
Feature /change: t>a
Feature /dnflank: agggctgggaagggtctaccctcgg
Feature /codon_table: 1
Feature /codon: tta>taa; 2
Feature /region: coding
Feature AA; 1
Feature /label: truncation
Feature /proof: computed
Feature /location: 5
Feature /change: L>*
//
ID M20132:(362)c.+4G>A; E2K
Feature DNA; 1
Feature /label: point, transition
Feature /proof: computed
Feature /location: 4
Feature /upflank: gaagattcagccaagctcaaggatg
Feature /change: g>a
Feature /dnflank: aagtgcagttagggctgggaagggt
Feature /re_site: -BccI
Feature RNA; 1
Feature /label: missense
Feature /proof: experimental
Feature /location: 4 (M20132::366)
Feature /upflank: gaagattcagccaagctcaaggatg
Feature /change: g>a
Feature /dnflank: aagtgcagttagggctgggaagggt
Feature /re_site: -BccI
Feature /codon_table: 1
Feature /codon: gaa>aaa; 1
Feature /region: coding
Feature AA; 1
Feature /label: substitution, conservative
Feature /proof: computed
Feature /location: 2
Feature /change: E>K
//
ID M20132:(362)c.+100delATCCAG; I34del-2
Feature DNA; 1
Feature /label: deletion
Feature /proof: computed
Feature /location: 100..105
Feature /upflank: tctgttccagagcgtgcgcgaagtg
Feature /change: atccag>
Feature /dnflank: aacccgggccccaggcacccagagg
Feature /re_site: -BinI, -BsiYI, -DpnI, -Hpy178III, -MboI, +MjaIV
Feature RNA; 1
Feature /label: inframe, deletion
Feature /proof: experimental
Feature /location: 100..105 (M20132::462..467)
Feature /upflank: tctgttccagagcgtgcgcgaagtg
Feature /change: atccag>
Feature /dnflank: aacccgggccccaggcacccagagg
Feature /re_site: -BinI, -BsiYI, -DpnI, -Hpy178III, -MboI, +MjaIV
Feature /codon_table: 1
Feature /codon: atc>-; 1
Feature /region: coding
Feature AA; 1
Feature /label: deletion
Feature /proof: computed
Feature /location: 34..35
Feature /change: IQ>
//
ID M20132:(362)c.+101delT; I34delX172
Feature DNA; 1
Feature /label: deletion
Feature /proof: computed
Feature /location: 101
Feature /upflank: ctgttccagagcgtgcgcgaagtga
Feature /change: t>
Feature /dnflank: ccagaacccgggccccaggcaccca
Feature /re_site: -BinI, -DpnI, -Hpy178III, +MaeIII, -MboI, +Tsp45I
Feature RNA; 1
Feature /label: frameshift, deletion
Feature /proof: experimental
Feature /location: 101 (M20132::463)
Feature /upflank: ctgttccagagcgtgcgcgaagtga
Feature /change: t>
Feature /dnflank: ccagaacccgggccccaggcaccca
Feature /re_site: -BinI, -DpnI, -Hpy178III, +MaeIII, -MboI, +Tsp45I
Feature /codon_table: 1
Feature /codon: atc>-; 2
Feature /region: coding
Feature AA; 1
Feature /label: out-of-frame translation, truncation
Feature /proof: computed
Feature /location: 34
Feature /change: I>TRTRAPGTQRPRAQHLPAPVCCCCSSSSSSSSSSSSSSSSSSSSKRLAP
Feature GSSSSSRVRMVLPKPIVEAPQATWSWMRNSNLHSRSRPWSATPREVASQSLEPPWPPAR
Feature GCRSSCQHLRTRMTQLPHPRCPCWAPLSPA*
//
ID M20132:(362)c.+101insGGGCCC; I34ins+2
Feature DNA; 1
Feature /label: insertion
Feature /proof: computed
Feature /location: 100^101
Feature /upflank: ctgttccagagcgtgcgcgaagtga
Feature /change: >gggccc
Feature /dnflank: tccagaacccgggccccaggcaccc
Feature /re_site: +ApaI, +AsuI, -BinI, +BmgI, +BseSI, +CviJI, -DpnI,
Feature +DraII, +GsuI, +HaeIII, +HgiJII, -MboI, +MnlI, +NlaIV,
Feature +SduI
Feature RNA; 1
Feature /label: inframe, insertion
Feature /proof: experimental
Feature /location: 100^101 (M20132::462^463)
Feature /upflank: ctgttccagagcgtgcgcgaagtga
Feature /change: >gggccc
Feature /dnflank: tccagaacccgggccccaggcaccc
Feature /re_site: +ApaI, +AsuI, -BinI, +BmgI, +BseSI, +CviJI, -DpnI,
Feature +DraII, +GsuI, +HaeIII, +HgiJII, -MboI, +MnlI, +NlaIV,
Feature +SduI
Feature /codon_table: 1
Feature /codon: atc>-; 2
Feature /region: coding
Feature AA; 1
Feature /label: insertion, complex
Feature /proof: computed
Feature /location: 34
Feature /change: I>RAL
//
ID M20132:(362)c.+100insG; I34ins81X
Feature DNA; 1
Feature /label: insertion
Feature /proof: computed
Feature /location: 99^100
Feature /upflank: tctgttccagagcgtgcgcgaagtg
Feature /change: >g
Feature /dnflank: atccagaacccgggccccaggcacc
Feature /re_site: +BamHI, +BinI, +NlaIV, +XhoII
Feature RNA; 1
Feature /label: frameshift, insertion
Feature /proof: experimental
Feature /location: 99^100 (M20132::461^462)
Feature /upflank: tctgttccagagcgtgcgcgaagtg
Feature /change: >g
Feature /dnflank: atccagaacccgggccccaggcacc
Feature /re_site: +BamHI, +BinI, +NlaIV, +XhoII
Feature /codon_table: 1
Feature /codon: atc>-; 1
Feature /region: coding
Feature AA; 1
Feature /label: out-of-frame translation, truncation
Feature /proof: computed
Feature /location: 34
Feature /change: I>DPEPGPQAPRGRERSTSRRQFAAAAAAAAAAAAAAAAAAAAAAAARD*
//
ID M20132:(362)c.+100AT>GGGCCC; I34ins82X
Feature DNA; 1
Feature /label: complex
Feature /proof: computed
Feature /location: 100..101
Feature /upflank: tctgttccagagcgtgcgcgaagtg
Feature /change: at>gggccc
Feature /dnflank: ccagaacccgggccccaggcaccca
Feature /re_site: +ApaI, +AsuI, -BinI, +BmgI, +BseSI, +CviJI, -DpnI,
Feature +DraII, +HaeIII, +HgiJII, -Hpy178III, -MboI, +NlaIV, +SduI
Feature RNA; 1
Feature /label: frameshift, complex
Feature /proof: experimental
Feature /location: 100..101 (M20132::462..463)
Feature /upflank: tctgttccagagcgtgcgcgaagtg
Feature /change: at>gggccc
Feature /dnflank: ccagaacccgggccccaggcaccca
Feature /re_site: +ApaI, +AsuI, -BinI, +BmgI, +BseSI, +CviJI, -DpnI,
Feature +DraII, +HaeIII, +HgiJII, -Hpy178III, -MboI, +NlaIV, +SduI
Feature /codon_table: 1
Feature /codon: atc>-; 1
Feature /region: coding
Feature AA; 1
Feature /label: out-of-frame translation, truncation
Feature /proof: computed
Feature /location: 34
Feature /change: I>GPPEPGPQAPRGRERSTSRRQFAAAAAAAAAAAAAAAAAAAAAAAARD*
//
ID M20132:(362+1)c.-1G>A
Feature DNA; 1
Feature /label: point, transition
Feature /proof: computed
Feature /location: -1
Feature /upflank: ggtggaagattcagccaagctcaag
Feature /change: g>a
Feature /dnflank: atggaagtgcagttagggctgggaa
Feature /re_site: -BccI, -FokI, +Hpy178III
Feature RNA; 1
Feature /label: unknown
Feature /proof: experimental
Feature /location: -1 (M20132::361)
Feature /upflank: ggtggaagattcagccaagctcaag
Feature /change: g>a
Feature /dnflank: atggaagtgcagttagggctgggaa
Feature /re_site: -BccI, -FokI, +Hpy178III
Feature /region: 5'UTR
//
ID M20132:(362)c.+2766T>C
Feature DNA; 1
Feature /label: point, transition
Feature /proof: computed
Feature /location: 2766
Feature /upflank: tctatttccacacccagtgaagcat
Feature /change: t>c
Feature /dnflank: ggaaaccctatttccccaccccagc
Feature /re_site: +Hpy188I, +SfaNI, -XcmI
Feature RNA; 1
Feature /label: unknown
Feature /proof: experimental
Feature /location: 2766 (M20132::3128)
Feature /upflank: tctatttccacacccagtgaagcat
Feature /change: t>c
Feature /dnflank: ggaaaccctatttccccaccccagc
Feature /re_site: +Hpy188I, +SfaNI, -XcmI
Feature /region: 3'UTR
//
ID J02933:(521)g.+12165A>G
Feature DNA; 1
Feature /label: point, transition
Feature /proof: experimental
Feature /location: 12165 (J02933::12686)
Feature /upflank: cgcacacctgtggtgcctgccaccc
Feature /change: a>g
Feature /dnflank: ctgggttgcccatgattcatttttg
Feature /re_site: +AciI, -BfiI, -BsrI, +FauI, +NspBII, +Sth132I,
Feature -TspRI
Feature /region: 3'UTR; (+1027)
Feature RNA; 1
Feature /label: unknown
Feature /proof: computed
Feature /location: 2428
Feature /upflank: cgcacacctgtggtgcctgccaccc
Feature /change: a>g
Feature /dnflank: ctgggttgcccatgattcatttttg
Feature /re_site: +AciI, -BfiI, -BsrI, +FauI, +NspBII, +Sth132I,
Feature -TspRI
Feature /region: 3'UTR; (-1)
//
ID J02933:(521)g.+4G>T; V2F
Feature DNA; 1
Feature /label: point, transversion
Feature /proof: computed
Feature /location: 4 (J02933::525)
Feature /upflank: gcagcactgcagagatttcatcatg
Feature /change: g>t
Feature /dnflank: tctcccaggccctcaggctcctctg
Feature /re_site: -BsmAI, -Eco31I
Feature /region: exon; 1 (+4)
Feature RNA; 1
Feature /label: missense
Feature /proof: experimental
Feature /location: 4
Feature /upflank: gcagcactgcagagatttcatcatg
Feature /change: g>t
Feature /dnflank: tctcccaggccctcaggctcctctg
Feature /re_site: -BsmAI, -Eco31I
Feature /codon_table: 1
Feature /codon: gtc>ttc; 1
Feature /region: coding
Feature AA; 1
Feature /label: substitution, nonconservative
Feature /proof: computed
Feature /location: 2
Feature /change: V>F
//
ID J02933:(521)g.+1168G>T; D34Y
Feature DNA; 1
Feature /label: point, transversion
Feature /proof: computed
Feature /location: 1168 (J02933::1689)
Feature /upflank: taaggcctcaggaggagaaacacgg
Feature /change: g>t
Feature /dnflank: acatgccgtggaagccggggcctca
Feature /re_site: -BscGI, -Bsp24I, -CjePI, -FinI, +RsaI, -Sth132I,
Feature +Tsp4CI
Feature /region: exon; 1 (-29)
Feature RNA; 1
Feature /label: missense
Feature /proof: experimental
Feature /location: 100
Feature /upflank: taaggcctcaggaggagaaacacgg
Feature /change: g>t
Feature /dnflank: acatgccgtggaagccggggcctca
Feature /re_site: -BscGI, -Bsp24I, -CjePI, -FinI, +RsaI, -Sth132I,
Feature +Tsp4CI
Feature /codon_table: 1
Feature /codon: gac>tac; 1
Feature /region: coding
Feature AA; 1
Feature /label: substitution, nonconservative
Feature /proof: computed
Feature /location: 34
Feature /change: D>Y
//
ID J02933:(521+1)g.-4C>G
Feature DNA; 1
Feature /label: point, transversion
Feature /proof: computed
Feature /location: -4 (J02933::518)
Feature /upflank: ggcaggggcagcactgcagagattt
Feature /change: c>g
Feature /dnflank: atcatggtctcccaggccctcaggc
Feature /re_site: +BclI, +DpnI, +MboI
Feature /region: 5'UTR; (-4)
Feature RNA; 1
Feature /label: unknown
Feature /proof: experimental
Feature /location: -4
Feature /upflank: ggcaggggcagcactgcagagattt
Feature /change: c>g
Feature /dnflank: atcatggtctcccaggccctcaggc
Feature /re_site: +BclI, +DpnI, +MboI
Feature /region: 5'UTR; (+31)
//
|
