Yum, tasty mutations...

MutationTaster - study a chromosomal position

 MTQE documentation
NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 8 transcript(s)...
Querying Taster for transcript #1: ENST00000543010
Querying Taster for transcript #2: ENST00000391721
Querying Taster for transcript #3: ENST00000339757
Querying Taster for transcript #4: ENST00000427260
Querying Taster for transcript #5: ENST00000263437
Querying Taster for transcript #6: ENST00000448584
Querying Taster for transcript #7: ENST00000537859
Querying Taster for transcript #8: ENST00000538819
MT speed 0 s - this script 5.068587 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
NLRP2polymorphism_automatic4.9960036108132e-15simple_aaeaffectedA1052Esingle base exchangers1043673show file
NLRP2polymorphism_automatic4.9960036108132e-15simple_aaeaffectedA1049Esingle base exchangers1043673show file
NLRP2polymorphism_automatic4.9960036108132e-15simple_aaeaffectedA1052Esingle base exchangers1043673show file
NLRP2polymorphism_automatic6.99440505513849e-15simple_aaeaffectedA1028Esingle base exchangers1043673show file
NLRP2polymorphism_automatic6.99440505513849e-15simple_aaeaffectedA1030Esingle base exchangers1043673show file
NLRP2polymorphism_automatic6.99440505513849e-15simple_aaeaffectedA1029Esingle base exchangers1043673show file
NLRP2polymorphism_automatic6.99440505513849e-15simple_aaeaffectedA1030Esingle base exchangers1043673show file
NLRP2polymorphism_automatic6.99440505513849e-15simple_aaeaffectedA1028Esingle base exchangers1043673show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999995 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:55512232C>AN/A show variant in all transcripts   IGV
HGNC symbol NLRP2
Ensembl transcript ID ENST00000543010
Genbank transcript ID NM_001174081
UniProt peptide Q9NX02
alteration type single base exchange
alteration region CDS
DNA changes c.3155C>A
cDNA.3298C>A
g.47735C>A
AA changes A1052E Score: 107 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1052
frameshift no
known variant Reference ID: rs1043673
databasehomozygous (A/A)heterozygousallele carriers
1000G30410441348
ExAC83641603924403
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.5430
-0.4350
(flanking)-1.720
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased47735wt: 0.60 / mu: 0.92wt: CTGGGCAGAAAGGCC
mu: CTGGGAAGAAAGGCC		 GGGC|agaa
Donor marginally increased47736wt: 0.9590 / mu: 0.9725 (marginal change - not scored)wt: TGGGCAGAAAGGCCT
mu: TGGGAAGAAAGGCCT		 GGCA|gaaa
Donor increased47731wt: 0.26 / mu: 1.00wt: ATCCCTGGGCAGAAA
mu: ATCCCTGGGAAGAAA		 CCCT|gggc
distance from splice site 105
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1052LIIDTEKHHPWAERPSSHDFMI*
mutated  not conserved    1052LIIDTEKHHPWEERPSSHDFMI
Ptroglodytes  not conserved  ENSPTRG00000011480  1052LIIDTEKHHPWEERPSSHDFMI
Mmulatta  not conserved  ENSMMUG00000003115  1051LIIDTEKHDPWKKRPSSHDFMI
Fcatus  no homologue    
Mmusculus  no alignment  ENSMUSG00000035177  n/a
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000088955  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3189 / 3189
position (AA) of stopcodon in wt / mu AA sequence 1063 / 1063
position of stopcodon in wt / mu cDNA 3332 / 3332
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 144 / 144
chromosome 19
strand 1
last intron/exon boundary 3194
theoretical NMD boundary in CDS 3000
length of CDS 3189
coding sequence (CDS) position 3155
cDNA position
(for ins/del: last normal base / first normal base)		 3298
gDNA position
(for ins/del: last normal base / first normal base)		 47735
chromosomal position
(for ins/del: last normal base / first normal base)		 55512232
original gDNA sequence snippet TGAGAAACATCATCCCTGGGCAGAAAGGCCTTCTTCTCATG
altered gDNA sequence snippet TGAGAAACATCATCCCTGGGAAGAAAGGCCTTCTTCTCATG
original cDNA sequence snippet TGAGAAACATCATCCCTGGGCAGAAAGGCCTTCTTCTCATG
altered cDNA sequence snippet TGAGAAACATCATCCCTGGGAAGAAAGGCCTTCTTCTCATG
wildtype AA sequence MVSSAQMGFN LQALLEQLSQ DELSKFKYLI TTFSLAHELQ KIPHKEVDKA DGKQLVEILT
THCDSYWVEM ASLQVFEKMH RMDLSERAKD EVREAALKSF NKRKPLSLGI TRKERPPLDV
DEMLERFKTE AQAFTETKGN VICLGKEVFK GKKPDKDNRC RYILKTKFRE MWKSWPGDSK
EVQVMAERYK MLIPFSNPRV LPGPFSYTVV LYGPAGLGKT TLAQKLMLDW AEDNLIHKFK
YAFYLSCREL SRLGPCSFAE LVFRDWPELQ DDIPHILAQA RKILFVIDGF DELGAAPGAL
IEDICGDWEK KKPVPVLLGS LLNRVMLPKA ALLVTTRPRA LRDLRILAEE PIYIRVEGFL
EEDRRAYFLR HFGDEDQAMR AFELMRSNAA LFQLGSAPAV CWIVCTTLKL QMEKGEDPVP
TCLTRTGLFL RFLCSRFPQG AQLRGALRTL SLLAAQGLWA QTSVLHREDL ERLGVQESDL
RLFLDGDILR QDRVSKGCYS FIHLSFQQFL TALFYTLEKE EEEDRDGHTW DIGDVQKLLS
GVERLRNPDL IQAGYYSFGL ANEKRAKELE ATFGCRMSPD IKQELLRCDI SCKGGHSTVT
DLQELLGCLY ESQEEELVKE VMAQFKEISL HLNAVDVVPS SFCVKHCRNL QKMSLQVIKE
NLPENVTASE SDAEVERSQD DQHMLPFWTD LCSIFGSNKD LMGLAINDSF LSASLVRILC
EQIASDTCHL QRVVFKNISP ADAHRNLCLA LRGHKTVTYL TLQGNDQDDM FPALCEVLRH
PECNLRYLGL VSCSATTQQW ADLSLALEVN QSLTCVNLSD NELLDEGAKL LYTTLRHPKC
FLQRLSLENC HLTEANCKDL AAVLVVSREL THLCLAKNPI GNTGVKFLCE GLRYPECKLQ
TLVLWNCDIT SDGCCDLTKL LQEKSSLLCL DLGLNHIGVK GMKFLCEALR KPLCNLRCLW
LWGCSIPPFS CEDLCSALSC NQSLVTLDLG QNPLGSSGVK MLFETLTCSS GTLRTLRLKI
DDFNDELNKL LEEIEEKNPQ LIIDTEKHHP WAERPSSHDF MI*
mutated AA sequence MVSSAQMGFN LQALLEQLSQ DELSKFKYLI TTFSLAHELQ KIPHKEVDKA DGKQLVEILT
THCDSYWVEM ASLQVFEKMH RMDLSERAKD EVREAALKSF NKRKPLSLGI TRKERPPLDV
DEMLERFKTE AQAFTETKGN VICLGKEVFK GKKPDKDNRC RYILKTKFRE MWKSWPGDSK
EVQVMAERYK MLIPFSNPRV LPGPFSYTVV LYGPAGLGKT TLAQKLMLDW AEDNLIHKFK
YAFYLSCREL SRLGPCSFAE LVFRDWPELQ DDIPHILAQA RKILFVIDGF DELGAAPGAL
IEDICGDWEK KKPVPVLLGS LLNRVMLPKA ALLVTTRPRA LRDLRILAEE PIYIRVEGFL
EEDRRAYFLR HFGDEDQAMR AFELMRSNAA LFQLGSAPAV CWIVCTTLKL QMEKGEDPVP
TCLTRTGLFL RFLCSRFPQG AQLRGALRTL SLLAAQGLWA QTSVLHREDL ERLGVQESDL
RLFLDGDILR QDRVSKGCYS FIHLSFQQFL TALFYTLEKE EEEDRDGHTW DIGDVQKLLS
GVERLRNPDL IQAGYYSFGL ANEKRAKELE ATFGCRMSPD IKQELLRCDI SCKGGHSTVT
DLQELLGCLY ESQEEELVKE VMAQFKEISL HLNAVDVVPS SFCVKHCRNL QKMSLQVIKE
NLPENVTASE SDAEVERSQD DQHMLPFWTD LCSIFGSNKD LMGLAINDSF LSASLVRILC
EQIASDTCHL QRVVFKNISP ADAHRNLCLA LRGHKTVTYL TLQGNDQDDM FPALCEVLRH
PECNLRYLGL VSCSATTQQW ADLSLALEVN QSLTCVNLSD NELLDEGAKL LYTTLRHPKC
FLQRLSLENC HLTEANCKDL AAVLVVSREL THLCLAKNPI GNTGVKFLCE GLRYPECKLQ
TLVLWNCDIT SDGCCDLTKL LQEKSSLLCL DLGLNHIGVK GMKFLCEALR KPLCNLRCLW
LWGCSIPPFS CEDLCSALSC NQSLVTLDLG QNPLGSSGVK MLFETLTCSS GTLRTLRLKI
DDFNDELNKL LEEIEEKNPQ LIIDTEKHHP WEERPSSHDF MI*
speed 1.03 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999995 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:55512232C>AN/A show variant in all transcripts   IGV
HGNC symbol NLRP2
Ensembl transcript ID ENST00000263437
Genbank transcript ID N/A
UniProt peptide Q9NX02
alteration type single base exchange
alteration region CDS
DNA changes c.3146C>A
cDNA.3225C>A
g.47735C>A
AA changes A1049E Score: 107 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1049
frameshift no
known variant Reference ID: rs1043673
databasehomozygous (A/A)heterozygousallele carriers
1000G30410441348
ExAC83641603924403
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.5430
-0.4350
(flanking)-1.720
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased47735wt: 0.60 / mu: 0.92wt: CTGGGCAGAAAGGCC
mu: CTGGGAAGAAAGGCC		 GGGC|agaa
Donor marginally increased47736wt: 0.9590 / mu: 0.9725 (marginal change - not scored)wt: TGGGCAGAAAGGCCT
mu: TGGGAAGAAAGGCCT		 GGCA|gaaa
Donor increased47731wt: 0.26 / mu: 1.00wt: ATCCCTGGGCAGAAA
mu: ATCCCTGGGAAGAAA		 CCCT|gggc
distance from splice site 105
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1049LIIDTEKHHPWAERPSSHDFMI*
mutated  not conserved    1049LIIDTEKHHPWEERPSSHDFMI
Ptroglodytes  not conserved  ENSPTRG00000011480  1052LIIDTEKHHPWEERPSSHDFMI
Mmulatta  not conserved  ENSMMUG00000003115  1051LIIDTEKHDPWKKRPSSHDFMI
Fcatus  no homologue    
Mmusculus  no alignment  ENSMUSG00000035177  n/a
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000088955  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3180 / 3180
position (AA) of stopcodon in wt / mu AA sequence 1060 / 1060
position of stopcodon in wt / mu cDNA 3259 / 3259
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 80 / 80
chromosome 19
strand 1
last intron/exon boundary 3121
theoretical NMD boundary in CDS 2991
length of CDS 3180
coding sequence (CDS) position 3146
cDNA position
(for ins/del: last normal base / first normal base)		 3225
gDNA position
(for ins/del: last normal base / first normal base)		 47735
chromosomal position
(for ins/del: last normal base / first normal base)		 55512232
original gDNA sequence snippet TGAGAAACATCATCCCTGGGCAGAAAGGCCTTCTTCTCATG
altered gDNA sequence snippet TGAGAAACATCATCCCTGGGAAGAAAGGCCTTCTTCTCATG
original cDNA sequence snippet TGAGAAACATCATCCCTGGGCAGAAAGGCCTTCTTCTCATG
altered cDNA sequence snippet TGAGAAACATCATCCCTGGGAAGAAAGGCCTTCTTCTCATG
wildtype AA sequence MVSSAQMGFN LQALLEQLSQ DELSKFKYLI TTFSLAHELQ KIPHKEVDKA DGKQLVEILT
THCDSYWVEM ASLQVFEKMH RMDLSERAKD EVREAALKSF NKRKPLSLGI TRKERPPLDV
DEMLERFKTE AQETKGNVIC LGKEVFKGKK PDKDNRCRYI LKTKFREMWK SWPGDSKEVQ
VMAERYKMLI PFSNPRVLPG PFSYTVVLYG PAGLGKTTLA QKLMLDWAED NLIHKFKYAF
YLSCRELSRL GPCSFAELVF RDWPELQDDI PHILAQARKI LFVIDGFDEL GAAPGALIED
ICGDWEKKKP VPVLLGSLLN RVMLPKAALL VTTRPRALRD LRILAEEPIY IRVEGFLEED
RRAYFLRHFG DEDQAMRAFE LMRSNAALFQ LGSAPAVCWI VCTTLKLQME KGEDPVPTCL
TRTGLFLRFL CSRFPQGAQL RGALRTLSLL AAQGLWAQTS VLHREDLERL GVQESDLRLF
LDGDILRQDR VSKGCYSFIH LSFQQFLTAL FYTLEKEEEE DRDGHTWDIG DVQKLLSGVE
RLRNPDLIQA GYYSFGLANE KRAKELEATF GCRMSPDIKQ ELLRCDISCK GGHSTVTDLQ
ELLGCLYESQ EEELVKEVMA QFKEISLHLN AVDVVPSSFC VKHCRNLQKM SLQVIKENLP
ENVTASESDA EVERSQDDQH MLPFWTDLCS IFGSNKDLMG LAINDSFLSA SLVRILCEQI
ASDTCHLQRV VFKNISPADA HRNLCLALRG HKTVTYLTLQ GNDQDDMFPA LCEVLRHPEC
NLRYLGLVSC SATTQQWADL SLALEVNQSL TCVNLSDNEL LDEGAKLLYT TLRHPKCFLQ
RLSLENCHLT EANCKDLAAV LVVSRELTHL CLAKNPIGNT GVKFLCEGLR YPECKLQTLV
LWNCDITSDG CCDLTKLLQE KSSLLCLDLG LNHIGVKGMK FLCEALRKPL CNLRCLWLWG
CSIPPFSCED LCSALSCNQS LVTLDLGQNP LGSSGVKMLF ETLTCSSGTL RTLRLKIDDF
NDELNKLLEE IEEKNPQLII DTEKHHPWAE RPSSHDFMI*
mutated AA sequence MVSSAQMGFN LQALLEQLSQ DELSKFKYLI TTFSLAHELQ KIPHKEVDKA DGKQLVEILT
THCDSYWVEM ASLQVFEKMH RMDLSERAKD EVREAALKSF NKRKPLSLGI TRKERPPLDV
DEMLERFKTE AQETKGNVIC LGKEVFKGKK PDKDNRCRYI LKTKFREMWK SWPGDSKEVQ
VMAERYKMLI PFSNPRVLPG PFSYTVVLYG PAGLGKTTLA QKLMLDWAED NLIHKFKYAF
YLSCRELSRL GPCSFAELVF RDWPELQDDI PHILAQARKI LFVIDGFDEL GAAPGALIED
ICGDWEKKKP VPVLLGSLLN RVMLPKAALL VTTRPRALRD LRILAEEPIY IRVEGFLEED
RRAYFLRHFG DEDQAMRAFE LMRSNAALFQ LGSAPAVCWI VCTTLKLQME KGEDPVPTCL
TRTGLFLRFL CSRFPQGAQL RGALRTLSLL AAQGLWAQTS VLHREDLERL GVQESDLRLF
LDGDILRQDR VSKGCYSFIH LSFQQFLTAL FYTLEKEEEE DRDGHTWDIG DVQKLLSGVE
RLRNPDLIQA GYYSFGLANE KRAKELEATF GCRMSPDIKQ ELLRCDISCK GGHSTVTDLQ
ELLGCLYESQ EEELVKEVMA QFKEISLHLN AVDVVPSSFC VKHCRNLQKM SLQVIKENLP
ENVTASESDA EVERSQDDQH MLPFWTDLCS IFGSNKDLMG LAINDSFLSA SLVRILCEQI
ASDTCHLQRV VFKNISPADA HRNLCLALRG HKTVTYLTLQ GNDQDDMFPA LCEVLRHPEC
NLRYLGLVSC SATTQQWADL SLALEVNQSL TCVNLSDNEL LDEGAKLLYT TLRHPKCFLQ
RLSLENCHLT EANCKDLAAV LVVSRELTHL CLAKNPIGNT GVKFLCEGLR YPECKLQTLV
LWNCDITSDG CCDLTKLLQE KSSLLCLDLG LNHIGVKGMK FLCEALRKPL CNLRCLWLWG
CSIPPFSCED LCSALSCNQS LVTLDLGQNP LGSSGVKMLF ETLTCSSGTL RTLRLKIDDF
NDELNKLLEE IEEKNPQLII DTEKHHPWEE RPSSHDFMI*
speed 0.96 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999995 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:55512232C>AN/A show variant in all transcripts   IGV
HGNC symbol NLRP2
Ensembl transcript ID ENST00000448584
Genbank transcript ID NM_017852
UniProt peptide Q9NX02
alteration type single base exchange
alteration region CDS
DNA changes c.3155C>A
cDNA.3297C>A
g.47735C>A
AA changes A1052E Score: 107 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1052
frameshift no
known variant Reference ID: rs1043673
databasehomozygous (A/A)heterozygousallele carriers
1000G30410441348
ExAC83641603924403
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.5430
-0.4350
(flanking)-1.720
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased47735wt: 0.60 / mu: 0.92wt: CTGGGCAGAAAGGCC
mu: CTGGGAAGAAAGGCC		 GGGC|agaa
Donor marginally increased47736wt: 0.9590 / mu: 0.9725 (marginal change - not scored)wt: TGGGCAGAAAGGCCT
mu: TGGGAAGAAAGGCCT		 GGCA|gaaa
Donor increased47731wt: 0.26 / mu: 1.00wt: ATCCCTGGGCAGAAA
mu: ATCCCTGGGAAGAAA		 CCCT|gggc
distance from splice site 105
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1052LIIDTEKHHPWAERPSSHDFMI*
mutated  not conserved    1052LIIDTEKHHPWEERPSSHDFMI
Ptroglodytes  not conserved  ENSPTRG00000011480  1052LIIDTEKHHPWEERPSSHDFMI
Mmulatta  not conserved  ENSMMUG00000003115  1051LIIDTEKHDPWKKRPSSHDFMI
Fcatus  no homologue    
Mmusculus  no alignment  ENSMUSG00000035177  n/a
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000088955  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3189 / 3189
position (AA) of stopcodon in wt / mu AA sequence 1063 / 1063
position of stopcodon in wt / mu cDNA 3331 / 3331
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 143 / 143
chromosome 19
strand 1
last intron/exon boundary 3193
theoretical NMD boundary in CDS 3000
length of CDS 3189
coding sequence (CDS) position 3155
cDNA position
(for ins/del: last normal base / first normal base)		 3297
gDNA position
(for ins/del: last normal base / first normal base)		 47735
chromosomal position
(for ins/del: last normal base / first normal base)		 55512232
original gDNA sequence snippet TGAGAAACATCATCCCTGGGCAGAAAGGCCTTCTTCTCATG
altered gDNA sequence snippet TGAGAAACATCATCCCTGGGAAGAAAGGCCTTCTTCTCATG
original cDNA sequence snippet TGAGAAACATCATCCCTGGGCAGAAAGGCCTTCTTCTCATG
altered cDNA sequence snippet TGAGAAACATCATCCCTGGGAAGAAAGGCCTTCTTCTCATG
wildtype AA sequence MVSSAQMGFN LQALLEQLSQ DELSKFKYLI TTFSLAHELQ KIPHKEVDKA DGKQLVEILT
THCDSYWVEM ASLQVFEKMH RMDLSERAKD EVREAALKSF NKRKPLSLGI TRKERPPLDV
DEMLERFKTE AQAFTETKGN VICLGKEVFK GKKPDKDNRC RYILKTKFRE MWKSWPGDSK
EVQVMAERYK MLIPFSNPRV LPGPFSYTVV LYGPAGLGKT TLAQKLMLDW AEDNLIHKFK
YAFYLSCREL SRLGPCSFAE LVFRDWPELQ DDIPHILAQA RKILFVIDGF DELGAAPGAL
IEDICGDWEK KKPVPVLLGS LLNRVMLPKA ALLVTTRPRA LRDLRILAEE PIYIRVEGFL
EEDRRAYFLR HFGDEDQAMR AFELMRSNAA LFQLGSAPAV CWIVCTTLKL QMEKGEDPVP
TCLTRTGLFL RFLCSRFPQG AQLRGALRTL SLLAAQGLWA QTSVLHREDL ERLGVQESDL
RLFLDGDILR QDRVSKGCYS FIHLSFQQFL TALFYTLEKE EEEDRDGHTW DIGDVQKLLS
GVERLRNPDL IQAGYYSFGL ANEKRAKELE ATFGCRMSPD IKQELLRCDI SCKGGHSTVT
DLQELLGCLY ESQEEELVKE VMAQFKEISL HLNAVDVVPS SFCVKHCRNL QKMSLQVIKE
NLPENVTASE SDAEVERSQD DQHMLPFWTD LCSIFGSNKD LMGLAINDSF LSASLVRILC
EQIASDTCHL QRVVFKNISP ADAHRNLCLA LRGHKTVTYL TLQGNDQDDM FPALCEVLRH
PECNLRYLGL VSCSATTQQW ADLSLALEVN QSLTCVNLSD NELLDEGAKL LYTTLRHPKC
FLQRLSLENC HLTEANCKDL AAVLVVSREL THLCLAKNPI GNTGVKFLCE GLRYPECKLQ
TLVLWNCDIT SDGCCDLTKL LQEKSSLLCL DLGLNHIGVK GMKFLCEALR KPLCNLRCLW
LWGCSIPPFS CEDLCSALSC NQSLVTLDLG QNPLGSSGVK MLFETLTCSS GTLRTLRLKI
DDFNDELNKL LEEIEEKNPQ LIIDTEKHHP WAERPSSHDF MI*
mutated AA sequence MVSSAQMGFN LQALLEQLSQ DELSKFKYLI TTFSLAHELQ KIPHKEVDKA DGKQLVEILT
THCDSYWVEM ASLQVFEKMH RMDLSERAKD EVREAALKSF NKRKPLSLGI TRKERPPLDV
DEMLERFKTE AQAFTETKGN VICLGKEVFK GKKPDKDNRC RYILKTKFRE MWKSWPGDSK
EVQVMAERYK MLIPFSNPRV LPGPFSYTVV LYGPAGLGKT TLAQKLMLDW AEDNLIHKFK
YAFYLSCREL SRLGPCSFAE LVFRDWPELQ DDIPHILAQA RKILFVIDGF DELGAAPGAL
IEDICGDWEK KKPVPVLLGS LLNRVMLPKA ALLVTTRPRA LRDLRILAEE PIYIRVEGFL
EEDRRAYFLR HFGDEDQAMR AFELMRSNAA LFQLGSAPAV CWIVCTTLKL QMEKGEDPVP
TCLTRTGLFL RFLCSRFPQG AQLRGALRTL SLLAAQGLWA QTSVLHREDL ERLGVQESDL
RLFLDGDILR QDRVSKGCYS FIHLSFQQFL TALFYTLEKE EEEDRDGHTW DIGDVQKLLS
GVERLRNPDL IQAGYYSFGL ANEKRAKELE ATFGCRMSPD IKQELLRCDI SCKGGHSTVT
DLQELLGCLY ESQEEELVKE VMAQFKEISL HLNAVDVVPS SFCVKHCRNL QKMSLQVIKE
NLPENVTASE SDAEVERSQD DQHMLPFWTD LCSIFGSNKD LMGLAINDSF LSASLVRILC
EQIASDTCHL QRVVFKNISP ADAHRNLCLA LRGHKTVTYL TLQGNDQDDM FPALCEVLRH
PECNLRYLGL VSCSATTQQW ADLSLALEVN QSLTCVNLSD NELLDEGAKL LYTTLRHPKC
FLQRLSLENC HLTEANCKDL AAVLVVSREL THLCLAKNPI GNTGVKFLCE GLRYPECKLQ
TLVLWNCDIT SDGCCDLTKL LQEKSSLLCL DLGLNHIGVK GMKFLCEALR KPLCNLRCLW
LWGCSIPPFS CEDLCSALSC NQSLVTLDLG QNPLGSSGVK MLFETLTCSS GTLRTLRLKI
DDFNDELNKL LEEIEEKNPQ LIIDTEKHHP WEERPSSHDF MI*
speed 0.49 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999993 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:55512232C>AN/A show variant in all transcripts   IGV
HGNC symbol NLRP2
Ensembl transcript ID ENST00000391721
Genbank transcript ID N/A
UniProt peptide Q9NX02
alteration type single base exchange
alteration region CDS
DNA changes c.3083C>A
cDNA.3149C>A
g.47735C>A
AA changes A1028E Score: 107 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1028
frameshift no
known variant Reference ID: rs1043673
databasehomozygous (A/A)heterozygousallele carriers
1000G30410441348
ExAC83641603924403
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.5430
-0.4350
(flanking)-1.720
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased47735wt: 0.60 / mu: 0.92wt: CTGGGCAGAAAGGCC
mu: CTGGGAAGAAAGGCC		 GGGC|agaa
Donor marginally increased47736wt: 0.9590 / mu: 0.9725 (marginal change - not scored)wt: TGGGCAGAAAGGCCT
mu: TGGGAAGAAAGGCCT		 GGCA|gaaa
Donor increased47731wt: 0.26 / mu: 1.00wt: ATCCCTGGGCAGAAA
mu: ATCCCTGGGAAGAAA		 CCCT|gggc
distance from splice site 105
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1028LIIDTEKHHPWAERPSSHDFMI*
mutated  not conserved    1028TEKHHPWEERPSSHDFMI
Ptroglodytes  not conserved  ENSPTRG00000011480  1052LIIDTEKHHPWEERPSSHDFMI
Mmulatta  not conserved  ENSMMUG00000003115  1051LIIDTEKHDPWKKRPSSHDFMI
Fcatus  no homologue    
Mmusculus  no alignment  ENSMUSG00000035177  n/a
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000088955  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
10101033REPEATLRR 8.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3117 / 3117
position (AA) of stopcodon in wt / mu AA sequence 1039 / 1039
position of stopcodon in wt / mu cDNA 3183 / 3183
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 67 / 67
chromosome 19
strand 1
last intron/exon boundary 3045
theoretical NMD boundary in CDS 2928
length of CDS 3117
coding sequence (CDS) position 3083
cDNA position
(for ins/del: last normal base / first normal base)		 3149
gDNA position
(for ins/del: last normal base / first normal base)		 47735
chromosomal position
(for ins/del: last normal base / first normal base)		 55512232
original gDNA sequence snippet TGAGAAACATCATCCCTGGGCAGAAAGGCCTTCTTCTCATG
altered gDNA sequence snippet TGAGAAACATCATCCCTGGGAAGAAAGGCCTTCTTCTCATG
original cDNA sequence snippet TGAGAAACATCATCCCTGGGCAGAAAGGCCTTCTTCTCATG
altered cDNA sequence snippet TGAGAAACATCATCCCTGGGAAGAAAGGCCTTCTTCTCATG
wildtype AA sequence MVSSAQMGFN LQALLEQLSQ DELSKFKYLI TTFSLAHELQ KIPHKEVDKA DGKQLVEILT
THCDSYWVEM ASLQVFEKMH RMDLSERAKD EVREAALKSF NKRKPLSLAF TETKGNVICL
GKEVFKGKKP DKDNRCRYIL KTKFREMWKS WPGDSKEVQV MAERYKMLIP FSNPRVLPGP
FSYTVVLYGP AGLGKTTLAQ KLMLDWAEDN LIHKFKYAFY LSCRELSRLG PCSFAELVFR
DWPELQDDIP HILAQARKIL FVIDGFDELG AAPGALIEDI CGDWEKKKPV PVLLGSLLNR
VMLPKAALLV TTRPRALRDL RILAEEPIYI RVEGFLEEDR RAYFLRHFGD EDQAMRAFEL
MRSNAALFQL GSAPAVCWIV CTTLKLQMEK GEDPVPTCLT RTGLFLRFLC SRFPQGAQLR
GALRTLSLLA AQGLWAQTSV LHREDLERLG VQESDLRLFL DGDILRQDRV SKGCYSFIHL
SFQQFLTALF YTLEKEEEED RDGHTWDIGD VQKLLSGVER LRNPDLIQAG YYSFGLANEK
RAKELEATFG CRMSPDIKQE LLRCDISCKG GHSTVTDLQE LLGCLYESQE EELVKEVMAQ
FKEISLHLNA VDVVPSSFCV KHCRNLQKMS LQVIKENLPE NVTASESDAE VERSQDDQHM
LPFWTDLCSI FGSNKDLMGL AINDSFLSAS LVRILCEQIA SDTCHLQRVV FKNISPADAH
RNLCLALRGH KTVTYLTLQG NDQDDMFPAL CEVLRHPECN LRYLGLVSCS ATTQQWADLS
LALEVNQSLT CVNLSDNELL DEGAKLLYTT LRHPKCFLQR LSLENCHLTE ANCKDLAAVL
VVSRELTHLC LAKNPIGNTG VKFLCEGLRY PECKLQTLVL WNCDITSDGC CDLTKLLQEK
SSLLCLDLGL NHIGVKGMKF LCEALRKPLC NLRCLWLWGC SIPPFSCEDL CSALSCNQSL
VTLDLGQNPL GSSGVKMLFE TLTCSSGTLR TLRLKIDDFN DELNKLLEEI EEKNPQLIID
TEKHHPWAER PSSHDFMI*
mutated AA sequence MVSSAQMGFN LQALLEQLSQ DELSKFKYLI TTFSLAHELQ KIPHKEVDKA DGKQLVEILT
THCDSYWVEM ASLQVFEKMH RMDLSERAKD EVREAALKSF NKRKPLSLAF TETKGNVICL
GKEVFKGKKP DKDNRCRYIL KTKFREMWKS WPGDSKEVQV MAERYKMLIP FSNPRVLPGP
FSYTVVLYGP AGLGKTTLAQ KLMLDWAEDN LIHKFKYAFY LSCRELSRLG PCSFAELVFR
DWPELQDDIP HILAQARKIL FVIDGFDELG AAPGALIEDI CGDWEKKKPV PVLLGSLLNR
VMLPKAALLV TTRPRALRDL RILAEEPIYI RVEGFLEEDR RAYFLRHFGD EDQAMRAFEL
MRSNAALFQL GSAPAVCWIV CTTLKLQMEK GEDPVPTCLT RTGLFLRFLC SRFPQGAQLR
GALRTLSLLA AQGLWAQTSV LHREDLERLG VQESDLRLFL DGDILRQDRV SKGCYSFIHL
SFQQFLTALF YTLEKEEEED RDGHTWDIGD VQKLLSGVER LRNPDLIQAG YYSFGLANEK
RAKELEATFG CRMSPDIKQE LLRCDISCKG GHSTVTDLQE LLGCLYESQE EELVKEVMAQ
FKEISLHLNA VDVVPSSFCV KHCRNLQKMS LQVIKENLPE NVTASESDAE VERSQDDQHM
LPFWTDLCSI FGSNKDLMGL AINDSFLSAS LVRILCEQIA SDTCHLQRVV FKNISPADAH
RNLCLALRGH KTVTYLTLQG NDQDDMFPAL CEVLRHPECN LRYLGLVSCS ATTQQWADLS
LALEVNQSLT CVNLSDNELL DEGAKLLYTT LRHPKCFLQR LSLENCHLTE ANCKDLAAVL
VVSRELTHLC LAKNPIGNTG VKFLCEGLRY PECKLQTLVL WNCDITSDGC CDLTKLLQEK
SSLLCLDLGL NHIGVKGMKF LCEALRKPLC NLRCLWLWGC SIPPFSCEDL CSALSCNQSL
VTLDLGQNPL GSSGVKMLFE TLTCSSGTLR TLRLKIDDFN DELNKLLEEI EEKNPQLIID
TEKHHPWEER PSSHDFMI*
speed 1.07 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999993 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:55512232C>AN/A show variant in all transcripts   IGV
HGNC symbol NLRP2
Ensembl transcript ID ENST00000339757
Genbank transcript ID N/A
UniProt peptide Q9NX02
alteration type single base exchange
alteration region CDS
DNA changes c.3089C>A
cDNA.3148C>A
g.47735C>A
AA changes A1030E Score: 107 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1030
frameshift no
known variant Reference ID: rs1043673
databasehomozygous (A/A)heterozygousallele carriers
1000G30410441348
ExAC83641603924403
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.5430
-0.4350
(flanking)-1.720
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased47735wt: 0.60 / mu: 0.92wt: CTGGGCAGAAAGGCC
mu: CTGGGAAGAAAGGCC		 GGGC|agaa
Donor marginally increased47736wt: 0.9590 / mu: 0.9725 (marginal change - not scored)wt: TGGGCAGAAAGGCCT
mu: TGGGAAGAAAGGCCT		 GGCA|gaaa
Donor increased47731wt: 0.26 / mu: 1.00wt: ATCCCTGGGCAGAAA
mu: ATCCCTGGGAAGAAA		 CCCT|gggc
distance from splice site 105
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1030LIIDTEKHHPWAERPSSHDFMI*
mutated  not conserved    1030IDTEKHHPWEERPSSHDFMI
Ptroglodytes  not conserved  ENSPTRG00000011480  1052LIIDTEKHHPWEERPSSHDFMI
Mmulatta  not conserved  ENSMMUG00000003115  1051LIIDTEKHDPWKKRPSSHDFMI
Fcatus  no homologue    
Mmusculus  no alignment  ENSMUSG00000035177  n/a
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000088955  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
10101033REPEATLRR 8.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3123 / 3123
position (AA) of stopcodon in wt / mu AA sequence 1041 / 1041
position of stopcodon in wt / mu cDNA 3182 / 3182
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 60 / 60
chromosome 19
strand 1
last intron/exon boundary 3044
theoretical NMD boundary in CDS 2934
length of CDS 3123
coding sequence (CDS) position 3089
cDNA position
(for ins/del: last normal base / first normal base)		 3148
gDNA position
(for ins/del: last normal base / first normal base)		 47735
chromosomal position
(for ins/del: last normal base / first normal base)		 55512232
original gDNA sequence snippet TGAGAAACATCATCCCTGGGCAGAAAGGCCTTCTTCTCATG
altered gDNA sequence snippet TGAGAAACATCATCCCTGGGAAGAAAGGCCTTCTTCTCATG
original cDNA sequence snippet TGAGAAACATCATCCCTGGGCAGAAAGGCCTTCTTCTCATG
altered cDNA sequence snippet TGAGAAACATCATCCCTGGGAAGAAAGGCCTTCTTCTCATG
wildtype AA sequence MVSSAQMGFN LQALLEQLSQ DELSKFKYLI TTFSLAHELQ KIPHKEVDKA DGKQLVEILT
THCDSYWVEM ASLQVFEKMH RMDLSERAKD EVREAALKSF NKRKPLSLGI TRKERPPLDV
DEMLERFKTE AQDKDNRCRY ILKTKFREMW KSWPGDSKEV QVMAERYKML IPFSNPRVLP
GPFSYTVVLY GPAGLGKTTL AQKLMLDWAE DNLIHKFKYA FYLSCRELSR LGPCSFAELV
FRDWPELQDD IPHILAQARK ILFVIDGFDE LGAAPGALIE DICGDWEKKK PVPVLLGSLL
NRVMLPKAAL LVTTRPRALR DLRILAEEPI YIRVEGFLEE DRRAYFLRHF GDEDQAMRAF
ELMRSNAALF QLGSAPAVCW IVCTTLKLQM EKGEDPVPTC LTRTGLFLRF LCSRFPQGAQ
LRGALRTLSL LAAQGLWAQT SVLHREDLER LGVQESDLRL FLDGDILRQD RVSKGCYSFI
HLSFQQFLTA LFYTLEKEEE EDRDGHTWDI GDVQKLLSGV ERLRNPDLIQ AGYYSFGLAN
EKRAKELEAT FGCRMSPDIK QELLRCDISC KGGHSTVTDL QELLGCLYES QEEELVKEVM
AQFKEISLHL NAVDVVPSSF CVKHCRNLQK MSLQVIKENL PENVTASESD AEVERSQDDQ
HMLPFWTDLC SIFGSNKDLM GLAINDSFLS ASLVRILCEQ IASDTCHLQR VVFKNISPAD
AHRNLCLALR GHKTVTYLTL QGNDQDDMFP ALCEVLRHPE CNLRYLGLVS CSATTQQWAD
LSLALEVNQS LTCVNLSDNE LLDEGAKLLY TTLRHPKCFL QRLSLENCHL TEANCKDLAA
VLVVSRELTH LCLAKNPIGN TGVKFLCEGL RYPECKLQTL VLWNCDITSD GCCDLTKLLQ
EKSSLLCLDL GLNHIGVKGM KFLCEALRKP LCNLRCLWLW GCSIPPFSCE DLCSALSCNQ
SLVTLDLGQN PLGSSGVKML FETLTCSSGT LRTLRLKIDD FNDELNKLLE EIEEKNPQLI
IDTEKHHPWA ERPSSHDFMI *
mutated AA sequence MVSSAQMGFN LQALLEQLSQ DELSKFKYLI TTFSLAHELQ KIPHKEVDKA DGKQLVEILT
THCDSYWVEM ASLQVFEKMH RMDLSERAKD EVREAALKSF NKRKPLSLGI TRKERPPLDV
DEMLERFKTE AQDKDNRCRY ILKTKFREMW KSWPGDSKEV QVMAERYKML IPFSNPRVLP
GPFSYTVVLY GPAGLGKTTL AQKLMLDWAE DNLIHKFKYA FYLSCRELSR LGPCSFAELV
FRDWPELQDD IPHILAQARK ILFVIDGFDE LGAAPGALIE DICGDWEKKK PVPVLLGSLL
NRVMLPKAAL LVTTRPRALR DLRILAEEPI YIRVEGFLEE DRRAYFLRHF GDEDQAMRAF
ELMRSNAALF QLGSAPAVCW IVCTTLKLQM EKGEDPVPTC LTRTGLFLRF LCSRFPQGAQ
LRGALRTLSL LAAQGLWAQT SVLHREDLER LGVQESDLRL FLDGDILRQD RVSKGCYSFI
HLSFQQFLTA LFYTLEKEEE EDRDGHTWDI GDVQKLLSGV ERLRNPDLIQ AGYYSFGLAN
EKRAKELEAT FGCRMSPDIK QELLRCDISC KGGHSTVTDL QELLGCLYES QEEELVKEVM
AQFKEISLHL NAVDVVPSSF CVKHCRNLQK MSLQVIKENL PENVTASESD AEVERSQDDQ
HMLPFWTDLC SIFGSNKDLM GLAINDSFLS ASLVRILCEQ IASDTCHLQR VVFKNISPAD
AHRNLCLALR GHKTVTYLTL QGNDQDDMFP ALCEVLRHPE CNLRYLGLVS CSATTQQWAD
LSLALEVNQS LTCVNLSDNE LLDEGAKLLY TTLRHPKCFL QRLSLENCHL TEANCKDLAA
VLVVSRELTH LCLAKNPIGN TGVKFLCEGL RYPECKLQTL VLWNCDITSD GCCDLTKLLQ
EKSSLLCLDL GLNHIGVKGM KFLCEALRKP LCNLRCLWLW GCSIPPFSCE DLCSALSCNQ
SLVTLDLGQN PLGSSGVKML FETLTCSSGT LRTLRLKIDD FNDELNKLLE EIEEKNPQLI
IDTEKHHPWE ERPSSHDFMI *
speed 0.45 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999993 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:55512232C>AN/A show variant in all transcripts   IGV
HGNC symbol NLRP2
Ensembl transcript ID ENST00000427260
Genbank transcript ID NM_001174083
UniProt peptide Q9NX02
alteration type single base exchange
alteration region CDS
DNA changes c.3086C>A
cDNA.3197C>A
g.47735C>A
AA changes A1029E Score: 107 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1029
frameshift no
known variant Reference ID: rs1043673
databasehomozygous (A/A)heterozygousallele carriers
1000G30410441348
ExAC83641603924403
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.5430
-0.4350
(flanking)-1.720
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased47735wt: 0.60 / mu: 0.92wt: CTGGGCAGAAAGGCC
mu: CTGGGAAGAAAGGCC		 GGGC|agaa
Donor marginally increased47736wt: 0.9590 / mu: 0.9725 (marginal change - not scored)wt: TGGGCAGAAAGGCCT
mu: TGGGAAGAAAGGCCT		 GGCA|gaaa
Donor increased47731wt: 0.26 / mu: 1.00wt: ATCCCTGGGCAGAAA
mu: ATCCCTGGGAAGAAA		 CCCT|gggc
distance from splice site 105
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1029LIIDTEKHHPWAERPSSHDFMI*
mutated  not conserved    1029DTEKHHPWEERPSSHDFMI
Ptroglodytes  not conserved  ENSPTRG00000011480  1052LIIDTEKHHPWEERPSSHDFMI
Mmulatta  not conserved  ENSMMUG00000003115  1051LIIDTEKHDPWKKRPSSHDFMI
Fcatus  no homologue    
Mmusculus  no alignment  ENSMUSG00000035177  n/a
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000088955  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
10101033REPEATLRR 8.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3120 / 3120
position (AA) of stopcodon in wt / mu AA sequence 1040 / 1040
position of stopcodon in wt / mu cDNA 3231 / 3231
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 112 / 112
chromosome 19
strand 1
last intron/exon boundary 3093
theoretical NMD boundary in CDS 2931
length of CDS 3120
coding sequence (CDS) position 3086
cDNA position
(for ins/del: last normal base / first normal base)		 3197
gDNA position
(for ins/del: last normal base / first normal base)		 47735
chromosomal position
(for ins/del: last normal base / first normal base)		 55512232
original gDNA sequence snippet TGAGAAACATCATCCCTGGGCAGAAAGGCCTTCTTCTCATG
altered gDNA sequence snippet TGAGAAACATCATCCCTGGGAAGAAAGGCCTTCTTCTCATG
original cDNA sequence snippet TGAGAAACATCATCCCTGGGCAGAAAGGCCTTCTTCTCATG
altered cDNA sequence snippet TGAGAAACATCATCCCTGGGAAGAAAGGCCTTCTTCTCATG
wildtype AA sequence MVSSAQMGFN LQALLEQLSQ DELSKFKYLI TTFSLAHELQ KIPHKEMASL QVFEKMHRMD
LSERAKDEVR EAALKSFNKR KPLSLGITRK ERPPLDVDEM LERFKTEAQA FTETKGNVIC
LGKEVFKGKK PDKDNRCRYI LKTKFREMWK SWPGDSKEVQ VMAERYKMLI PFSNPRVLPG
PFSYTVVLYG PAGLGKTTLA QKLMLDWAED NLIHKFKYAF YLSCRELSRL GPCSFAELVF
RDWPELQDDI PHILAQARKI LFVIDGFDEL GAAPGALIED ICGDWEKKKP VPVLLGSLLN
RVMLPKAALL VTTRPRALRD LRILAEEPIY IRVEGFLEED RRAYFLRHFG DEDQAMRAFE
LMRSNAALFQ LGSAPAVCWI VCTTLKLQME KGEDPVPTCL TRTGLFLRFL CSRFPQGAQL
RGALRTLSLL AAQGLWAQTS VLHREDLERL GVQESDLRLF LDGDILRQDR VSKGCYSFIH
LSFQQFLTAL FYTLEKEEEE DRDGHTWDIG DVQKLLSGVE RLRNPDLIQA GYYSFGLANE
KRAKELEATF GCRMSPDIKQ ELLRCDISCK GGHSTVTDLQ ELLGCLYESQ EEELVKEVMA
QFKEISLHLN AVDVVPSSFC VKHCRNLQKM SLQVIKENLP ENVTASESDA EVERSQDDQH
MLPFWTDLCS IFGSNKDLMG LAINDSFLSA SLVRILCEQI ASDTCHLQRV VFKNISPADA
HRNLCLALRG HKTVTYLTLQ GNDQDDMFPA LCEVLRHPEC NLRYLGLVSC SATTQQWADL
SLALEVNQSL TCVNLSDNEL LDEGAKLLYT TLRHPKCFLQ RLSLENCHLT EANCKDLAAV
LVVSRELTHL CLAKNPIGNT GVKFLCEGLR YPECKLQTLV LWNCDITSDG CCDLTKLLQE
KSSLLCLDLG LNHIGVKGMK FLCEALRKPL CNLRCLWLWG CSIPPFSCED LCSALSCNQS
LVTLDLGQNP LGSSGVKMLF ETLTCSSGTL RTLRLKIDDF NDELNKLLEE IEEKNPQLII
DTEKHHPWAE RPSSHDFMI*
mutated AA sequence MVSSAQMGFN LQALLEQLSQ DELSKFKYLI TTFSLAHELQ KIPHKEMASL QVFEKMHRMD
LSERAKDEVR EAALKSFNKR KPLSLGITRK ERPPLDVDEM LERFKTEAQA FTETKGNVIC
LGKEVFKGKK PDKDNRCRYI LKTKFREMWK SWPGDSKEVQ VMAERYKMLI PFSNPRVLPG
PFSYTVVLYG PAGLGKTTLA QKLMLDWAED NLIHKFKYAF YLSCRELSRL GPCSFAELVF
RDWPELQDDI PHILAQARKI LFVIDGFDEL GAAPGALIED ICGDWEKKKP VPVLLGSLLN
RVMLPKAALL VTTRPRALRD LRILAEEPIY IRVEGFLEED RRAYFLRHFG DEDQAMRAFE
LMRSNAALFQ LGSAPAVCWI VCTTLKLQME KGEDPVPTCL TRTGLFLRFL CSRFPQGAQL
RGALRTLSLL AAQGLWAQTS VLHREDLERL GVQESDLRLF LDGDILRQDR VSKGCYSFIH
LSFQQFLTAL FYTLEKEEEE DRDGHTWDIG DVQKLLSGVE RLRNPDLIQA GYYSFGLANE
KRAKELEATF GCRMSPDIKQ ELLRCDISCK GGHSTVTDLQ ELLGCLYESQ EEELVKEVMA
QFKEISLHLN AVDVVPSSFC VKHCRNLQKM SLQVIKENLP ENVTASESDA EVERSQDDQH
MLPFWTDLCS IFGSNKDLMG LAINDSFLSA SLVRILCEQI ASDTCHLQRV VFKNISPADA
HRNLCLALRG HKTVTYLTLQ GNDQDDMFPA LCEVLRHPEC NLRYLGLVSC SATTQQWADL
SLALEVNQSL TCVNLSDNEL LDEGAKLLYT TLRHPKCFLQ RLSLENCHLT EANCKDLAAV
LVVSRELTHL CLAKNPIGNT GVKFLCEGLR YPECKLQTLV LWNCDITSDG CCDLTKLLQE
KSSLLCLDLG LNHIGVKGMK FLCEALRKPL CNLRCLWLWG CSIPPFSCED LCSALSCNQS
LVTLDLGQNP LGSSGVKMLF ETLTCSSGTL RTLRLKIDDF NDELNKLLEE IEEKNPQLII
DTEKHHPWEE RPSSHDFMI*
speed 0.96 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999993 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:55512232C>AN/A show variant in all transcripts   IGV
HGNC symbol NLRP2
Ensembl transcript ID ENST00000537859
Genbank transcript ID NM_001174082
UniProt peptide Q9NX02
alteration type single base exchange
alteration region CDS
DNA changes c.3089C>A
cDNA.3231C>A
g.47735C>A
AA changes A1030E Score: 107 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1030
frameshift no
known variant Reference ID: rs1043673
databasehomozygous (A/A)heterozygousallele carriers
1000G30410441348
ExAC83641603924403
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.5430
-0.4350
(flanking)-1.720
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased47735wt: 0.60 / mu: 0.92wt: CTGGGCAGAAAGGCC
mu: CTGGGAAGAAAGGCC		 GGGC|agaa
Donor marginally increased47736wt: 0.9590 / mu: 0.9725 (marginal change - not scored)wt: TGGGCAGAAAGGCCT
mu: TGGGAAGAAAGGCCT		 GGCA|gaaa
Donor increased47731wt: 0.26 / mu: 1.00wt: ATCCCTGGGCAGAAA
mu: ATCCCTGGGAAGAAA		 CCCT|gggc
distance from splice site 105
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1030LIIDTEKHHPWAERPSSHDFMI*
mutated  not conserved    1030IDTEKHHPWEERPSSHDFMI
Ptroglodytes  not conserved  ENSPTRG00000011480  1052LIIDTEKHHPWEERPSSHDFMI
Mmulatta  not conserved  ENSMMUG00000003115  1051LIIDTEKHDPWKKRPSSHDFMI
Fcatus  no homologue    
Mmusculus  no alignment  ENSMUSG00000035177  n/a
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000088955  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
10101033REPEATLRR 8.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3123 / 3123
position (AA) of stopcodon in wt / mu AA sequence 1041 / 1041
position of stopcodon in wt / mu cDNA 3265 / 3265
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 143 / 143
chromosome 19
strand 1
last intron/exon boundary 3127
theoretical NMD boundary in CDS 2934
length of CDS 3123
coding sequence (CDS) position 3089
cDNA position
(for ins/del: last normal base / first normal base)		 3231
gDNA position
(for ins/del: last normal base / first normal base)		 47735
chromosomal position
(for ins/del: last normal base / first normal base)		 55512232
original gDNA sequence snippet TGAGAAACATCATCCCTGGGCAGAAAGGCCTTCTTCTCATG
altered gDNA sequence snippet TGAGAAACATCATCCCTGGGAAGAAAGGCCTTCTTCTCATG
original cDNA sequence snippet TGAGAAACATCATCCCTGGGCAGAAAGGCCTTCTTCTCATG
altered cDNA sequence snippet TGAGAAACATCATCCCTGGGAAGAAAGGCCTTCTTCTCATG
wildtype AA sequence MVSSAQMGFN LQALLEQLSQ DELSKFKYLI TTFSLAHELQ KIPHKEVDKA DGKQLVEILT
THCDSYWVEM ASLQVFEKMH RMDLSERAKD EVREAALKSF NKRKPLSLGI TRKERPPLDV
DEMLERFKTE AQDKDNRCRY ILKTKFREMW KSWPGDSKEV QVMAERYKML IPFSNPRVLP
GPFSYTVVLY GPAGLGKTTL AQKLMLDWAE DNLIHKFKYA FYLSCRELSR LGPCSFAELV
FRDWPELQDD IPHILAQARK ILFVIDGFDE LGAAPGALIE DICGDWEKKK PVPVLLGSLL
NRVMLPKAAL LVTTRPRALR DLRILAEEPI YIRVEGFLEE DRRAYFLRHF GDEDQAMRAF
ELMRSNAALF QLGSAPAVCW IVCTTLKLQM EKGEDPVPTC LTRTGLFLRF LCSRFPQGAQ
LRGALRTLSL LAAQGLWAQT SVLHREDLER LGVQESDLRL FLDGDILRQD RVSKGCYSFI
HLSFQQFLTA LFYTLEKEEE EDRDGHTWDI GDVQKLLSGV ERLRNPDLIQ AGYYSFGLAN
EKRAKELEAT FGCRMSPDIK QELLRCDISC KGGHSTVTDL QELLGCLYES QEEELVKEVM
AQFKEISLHL NAVDVVPSSF CVKHCRNLQK MSLQVIKENL PENVTASESD AEVERSQDDQ
HMLPFWTDLC SIFGSNKDLM GLAINDSFLS ASLVRILCEQ IASDTCHLQR VVFKNISPAD
AHRNLCLALR GHKTVTYLTL QGNDQDDMFP ALCEVLRHPE CNLRYLGLVS CSATTQQWAD
LSLALEVNQS LTCVNLSDNE LLDEGAKLLY TTLRHPKCFL QRLSLENCHL TEANCKDLAA
VLVVSRELTH LCLAKNPIGN TGVKFLCEGL RYPECKLQTL VLWNCDITSD GCCDLTKLLQ
EKSSLLCLDL GLNHIGVKGM KFLCEALRKP LCNLRCLWLW GCSIPPFSCE DLCSALSCNQ
SLVTLDLGQN PLGSSGVKML FETLTCSSGT LRTLRLKIDD FNDELNKLLE EIEEKNPQLI
IDTEKHHPWA ERPSSHDFMI *
mutated AA sequence MVSSAQMGFN LQALLEQLSQ DELSKFKYLI TTFSLAHELQ KIPHKEVDKA DGKQLVEILT
THCDSYWVEM ASLQVFEKMH RMDLSERAKD EVREAALKSF NKRKPLSLGI TRKERPPLDV
DEMLERFKTE AQDKDNRCRY ILKTKFREMW KSWPGDSKEV QVMAERYKML IPFSNPRVLP
GPFSYTVVLY GPAGLGKTTL AQKLMLDWAE DNLIHKFKYA FYLSCRELSR LGPCSFAELV
FRDWPELQDD IPHILAQARK ILFVIDGFDE LGAAPGALIE DICGDWEKKK PVPVLLGSLL
NRVMLPKAAL LVTTRPRALR DLRILAEEPI YIRVEGFLEE DRRAYFLRHF GDEDQAMRAF
ELMRSNAALF QLGSAPAVCW IVCTTLKLQM EKGEDPVPTC LTRTGLFLRF LCSRFPQGAQ
LRGALRTLSL LAAQGLWAQT SVLHREDLER LGVQESDLRL FLDGDILRQD RVSKGCYSFI
HLSFQQFLTA LFYTLEKEEE EDRDGHTWDI GDVQKLLSGV ERLRNPDLIQ AGYYSFGLAN
EKRAKELEAT FGCRMSPDIK QELLRCDISC KGGHSTVTDL QELLGCLYES QEEELVKEVM
AQFKEISLHL NAVDVVPSSF CVKHCRNLQK MSLQVIKENL PENVTASESD AEVERSQDDQ
HMLPFWTDLC SIFGSNKDLM GLAINDSFLS ASLVRILCEQ IASDTCHLQR VVFKNISPAD
AHRNLCLALR GHKTVTYLTL QGNDQDDMFP ALCEVLRHPE CNLRYLGLVS CSATTQQWAD
LSLALEVNQS LTCVNLSDNE LLDEGAKLLY TTLRHPKCFL QRLSLENCHL TEANCKDLAA
VLVVSRELTH LCLAKNPIGN TGVKFLCEGL RYPECKLQTL VLWNCDITSD GCCDLTKLLQ
EKSSLLCLDL GLNHIGVKGM KFLCEALRKP LCNLRCLWLW GCSIPPFSCE DLCSALSCNQ
SLVTLDLGQN PLGSSGVKML FETLTCSSGT LRTLRLKIDD FNDELNKLLE EIEEKNPQLI
IDTEKHHPWE ERPSSHDFMI *
speed 0.42 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
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Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999993 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:55512232C>AN/A show variant in all transcripts   IGV
HGNC symbol NLRP2
Ensembl transcript ID ENST00000538819
Genbank transcript ID N/A
UniProt peptide Q9NX02
alteration type single base exchange
alteration region CDS
DNA changes c.3083C>A
cDNA.3169C>A
g.47735C>A
AA changes A1028E Score: 107 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1028
frameshift no
known variant Reference ID: rs1043673
databasehomozygous (A/A)heterozygousallele carriers
1000G30410441348
ExAC83641603924403
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.5430
-0.4350
(flanking)-1.720
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased47735wt: 0.60 / mu: 0.92wt: CTGGGCAGAAAGGCC
mu: CTGGGAAGAAAGGCC		 GGGC|agaa
Donor marginally increased47736wt: 0.9590 / mu: 0.9725 (marginal change - not scored)wt: TGGGCAGAAAGGCCT
mu: TGGGAAGAAAGGCCT		 GGCA|gaaa
Donor increased47731wt: 0.26 / mu: 1.00wt: ATCCCTGGGCAGAAA
mu: ATCCCTGGGAAGAAA		 CCCT|gggc
distance from splice site 105
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1028LIIDTEKHHPWAERPSSHDFMI*
mutated  not conserved    1028TEKHHPWEERPSSHDFMI
Ptroglodytes  not conserved  ENSPTRG00000011480  1052LIIDTEKHHPWEERPSSHDFMI
Mmulatta  not conserved  ENSMMUG00000003115  1051LIIDTEKHDPWKKRPSSHDFMI
Fcatus  no homologue    
Mmusculus  no alignment  ENSMUSG00000035177  n/a
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000088955  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
10101033REPEATLRR 8.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3117 / 3117
position (AA) of stopcodon in wt / mu AA sequence 1039 / 1039
position of stopcodon in wt / mu cDNA 3203 / 3203
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 87 / 87
chromosome 19
strand 1
last intron/exon boundary 3065
theoretical NMD boundary in CDS 2928
length of CDS 3117
coding sequence (CDS) position 3083
cDNA position
(for ins/del: last normal base / first normal base)		 3169
gDNA position
(for ins/del: last normal base / first normal base)		 47735
chromosomal position
(for ins/del: last normal base / first normal base)		 55512232
original gDNA sequence snippet TGAGAAACATCATCCCTGGGCAGAAAGGCCTTCTTCTCATG
altered gDNA sequence snippet TGAGAAACATCATCCCTGGGAAGAAAGGCCTTCTTCTCATG
original cDNA sequence snippet TGAGAAACATCATCCCTGGGCAGAAAGGCCTTCTTCTCATG
altered cDNA sequence snippet TGAGAAACATCATCCCTGGGAAGAAAGGCCTTCTTCTCATG
wildtype AA sequence MVSSAQMGFN LQALLEQLSQ DELSKFKYLI TTFSLAHELQ KIPHKEVDKA DGKQLVEILT
THCDSYWVEM ASLQVFEKMH RMDLSERAKD EVREAALKSF NKRKPLSLAF TETKGNVICL
GKEVFKGKKP DKDNRCRYIL KTKFREMWKS WPGDSKEVQV MAERYKMLIP FSNPRVLPGP
FSYTVVLYGP AGLGKTTLAQ KLMLDWAEDN LIHKFKYAFY LSCRELSRLG PCSFAELVFR
DWPELQDDIP HILAQARKIL FVIDGFDELG AAPGALIEDI CGDWEKKKPV PVLLGSLLNR
VMLPKAALLV TTRPRALRDL RILAEEPIYI RVEGFLEEDR RAYFLRHFGD EDQAMRAFEL
MRSNAALFQL GSAPAVCWIV CTTLKLQMEK GEDPVPTCLT RTGLFLRFLC SRFPQGAQLR
GALRTLSLLA AQGLWAQTSV LHREDLERLG VQESDLRLFL DGDILRQDRV SKGCYSFIHL
SFQQFLTALF YTLEKEEEED RDGHTWDIGD VQKLLSGVER LRNPDLIQAG YYSFGLANEK
RAKELEATFG CRMSPDIKQE LLRCDISCKG GHSTVTDLQE LLGCLYESQE EELVKEVMAQ
FKEISLHLNA VDVVPSSFCV KHCRNLQKMS LQVIKENLPE NVTASESDAE VERSQDDQHM
LPFWTDLCSI FGSNKDLMGL AINDSFLSAS LVRILCEQIA SDTCHLQRVV FKNISPADAH
RNLCLALRGH KTVTYLTLQG NDQDDMFPAL CEVLRHPECN LRYLGLVSCS ATTQQWADLS
LALEVNQSLT CVNLSDNELL DEGAKLLYTT LRHPKCFLQR LSLENCHLTE ANCKDLAAVL
VVSRELTHLC LAKNPIGNTG VKFLCEGLRY PECKLQTLVL WNCDITSDGC CDLTKLLQEK
SSLLCLDLGL NHIGVKGMKF LCEALRKPLC NLRCLWLWGC SIPPFSCEDL CSALSCNQSL
VTLDLGQNPL GSSGVKMLFE TLTCSSGTLR TLRLKIDDFN DELNKLLEEI EEKNPQLIID
TEKHHPWAER PSSHDFMI*
mutated AA sequence MVSSAQMGFN LQALLEQLSQ DELSKFKYLI TTFSLAHELQ KIPHKEVDKA DGKQLVEILT
THCDSYWVEM ASLQVFEKMH RMDLSERAKD EVREAALKSF NKRKPLSLAF TETKGNVICL
GKEVFKGKKP DKDNRCRYIL KTKFREMWKS WPGDSKEVQV MAERYKMLIP FSNPRVLPGP
FSYTVVLYGP AGLGKTTLAQ KLMLDWAEDN LIHKFKYAFY LSCRELSRLG PCSFAELVFR
DWPELQDDIP HILAQARKIL FVIDGFDELG AAPGALIEDI CGDWEKKKPV PVLLGSLLNR
VMLPKAALLV TTRPRALRDL RILAEEPIYI RVEGFLEEDR RAYFLRHFGD EDQAMRAFEL
MRSNAALFQL GSAPAVCWIV CTTLKLQMEK GEDPVPTCLT RTGLFLRFLC SRFPQGAQLR
GALRTLSLLA AQGLWAQTSV LHREDLERLG VQESDLRLFL DGDILRQDRV SKGCYSFIHL
SFQQFLTALF YTLEKEEEED RDGHTWDIGD VQKLLSGVER LRNPDLIQAG YYSFGLANEK
RAKELEATFG CRMSPDIKQE LLRCDISCKG GHSTVTDLQE LLGCLYESQE EELVKEVMAQ
FKEISLHLNA VDVVPSSFCV KHCRNLQKMS LQVIKENLPE NVTASESDAE VERSQDDQHM
LPFWTDLCSI FGSNKDLMGL AINDSFLSAS LVRILCEQIA SDTCHLQRVV FKNISPADAH
RNLCLALRGH KTVTYLTLQG NDQDDMFPAL CEVLRHPECN LRYLGLVSCS ATTQQWADLS
LALEVNQSLT CVNLSDNELL DEGAKLLYTT LRHPKCFLQR LSLENCHLTE ANCKDLAAVL
VVSRELTHLC LAKNPIGNTG VKFLCEGLRY PECKLQTLVL WNCDITSDGC CDLTKLLQEK
SSLLCLDLGL NHIGVKGMKF LCEALRKPLC NLRCLWLWGC SIPPFSCEDL CSALSCNQSL
VTLDLGQNPL GSSGVKMLFE TLTCSSGTLR TLRLKIDDFN DELNKLLEEI EEKNPQLIID
TEKHHPWEER PSSHDFMI*
speed 0.84 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table

Problems