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 7 transcript(s)...
Querying Taster for transcript #1: ENST00000328092
Querying Taster for transcript #2: ENST00000590030
Querying Taster for transcript #3: ENST00000588756
Querying Taster for transcript #4: ENST00000592784
Querying Taster for transcript #5: ENST00000446217
Querying Taster for transcript #6: ENST00000448121
Querying Taster for transcript #7: ENST00000340844
MT speed 0 s - this script 8.443262 s

Results


genesymbolpredictionprobabilitymodelprediction
problem
splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
NLRP7polymorphism_automatic4.41602310274902e-12simple_aaeaffectedV319Isingle base exchangers775882show file
NLRP7polymorphism_automatic4.41602310274902e-12simple_aaeaffectedV319Isingle base exchangers775882show file
NLRP7polymorphism_automatic4.41602310274902e-12simple_aaeaffectedV319Isingle base exchangers775882show file
NLRP7polymorphism_automatic4.41602310274902e-12simple_aaeaffectedV319Isingle base exchangers775882show file
NLRP7polymorphism_automatic4.41602310274902e-12simple_aaeaffectedV319Isingle base exchangers775882show file
NLRP7polymorphism_automatic4.41602310274902e-12simple_aaeaffectedV319Isingle base exchangers775882show file
NLRP7polymorphism_automatic4.41602310274902e-12simple_aaeaffectedV347Isingle base exchangers775882show file

Taster files

Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999995584 (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) chr19:55451232C>TN/A show variant in all transcripts   IGV
HGNC symbol NLRP7
Ensembl transcript ID ENST00000590030
Genbank transcript ID N/A
UniProt peptide Q8WX94
alteration type single base exchange
alteration region CDS
DNA changes c.955G>A
cDNA.996G>A
g.26449G>A
AA changes V319I Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS
319
frameshift no
known variant Reference ID: rs775882
databasehomozygous (T/T)heterozygousallele carriers
1000G2459571202
ExAC39032137525278
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2840
-3.4760
(flanking)-0.3460
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased26454wt: 0.9733 / mu: 0.9904 (marginal change - not scored)wt: GTAAGGGTGGAGGGC
mu: ATAAGGGTGGAGGGC
 AAGG|gtgg
Donor marginally increased26447wt: 0.9635 / mu: 0.9822 (marginal change - not scored)wt: GATCTACGTAAGGGT
mu: GATCTACATAAGGGT
 TCTA|cgta
Acc gained264520.31mu: CGCAGCAGCCGATCTACATAAGGGTGGAGGGCTTCCTGGAG ataa|GGGT
Donor gained264520.43mu: ACATAAGGGTGGAGG ATAA|gggt
Donor gained264490.37mu: TCTACATAAGGGTGG TACA|taag
distance from splice site 603
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      319DLQLLAQQPIYVRVEGFLEEDRRA
mutated  all conserved    319DLQLLAQQPIYIRVEGFLEEDRR
Ptroglodytes  all identical  ENSPTRG00000011479  347DLQLLAQQPIYVRVEGFLEEDRR
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000035177  327QIFVMMDQPLLVETLGFLEQEKQ
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000088955  311TLTNLLKFPQRFSEIMGFSEKGVK
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
172491DOMAINNACHT.lost
481481CONFLICTA -> T (in Ref. 4; AAI09126).might get lost (downstream of altered splice site)
614638REPEATLRR 1.might get lost (downstream of altered splice site)
674697REPEATLRR 2.might get lost (downstream of altered splice site)
760784REPEATLRR 3.might get lost (downstream of altered splice site)
788810REPEATLRR 4.might get lost (downstream of altered splice site)
817840REPEATLRR 5.might get lost (downstream of altered splice site)
845868REPEATLRR 6.might get lost (downstream of altered splice site)
874897REPEATLRR 7.might get lost (downstream of altered splice site)
902928REPEATLRR 8.might get lost (downstream of altered splice site)
933957REPEATLRR 9.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2943 / 2943
position (AA) of stopcodon in wt / mu AA sequence 981 / 981
position of stopcodon in wt / mu cDNA 2984 / 2984
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 42 / 42
chromosome 19
strand -1
last intron/exon boundary 2852
theoretical NMD boundary in CDS 2760
length of CDS 2943
coding sequence (CDS) position 955
cDNA position
(for ins/del: last normal base / first normal base)
996
gDNA position
(for ins/del: last normal base / first normal base)
26449
chromosomal position
(for ins/del: last normal base / first normal base)
55451232
original gDNA sequence snippet TGGCGCAGCAGCCGATCTACGTAAGGGTGGAGGGCTTCCTG
altered gDNA sequence snippet TGGCGCAGCAGCCGATCTACATAAGGGTGGAGGGCTTCCTG
original cDNA sequence snippet TGGCGCAGCAGCCGATCTACGTAAGGGTGGAGGGCTTCCTG
altered cDNA sequence snippet TGGCGCAGCAGCCGATCTACATAAGGGTGGAGGGCTTCCTG
wildtype AA sequence MTSPQLEWTL QTLLEQLNED ELKSFKSLLW AFPLEDVLQK TPWSEVEEAD GKKLAEILVN
TSSENWIRNA TVNILEEMNL TELCKMAKAE MMEDGQVQEI DNPELGDAEE DSELAKPGEK
EGWRNSMEKQ SLVWKNTFWQ GDIDNFHDDV TLRNQRFIPF LNPRTPRKLT PYTVVLHGPA
GVGKTTLAKK CMLDWTDCNL SPTLRYAFYL SCKELSRMGP CSFAELISKD WPELQDDIPS
ILAQAQRILF VVDGLDELKV PPGALIQDIC GDWEKKKPVP VLLGSLLKRK MLPRAALLVT
TRPRALRDLQ LLAQQPIYVR VEGFLEEDRR AYFLRHFGDE DQAMRAFELM RSNAALFQLG
SAPAVCWIVC TTLKLQMEKG EDPVPTCLTR TGLFLRFLCS RFPQGAQLRG ALRTLSLLAA
QGLWAQMSVF HREDLERLGV QESDLRLFLD GDILRQDRVS KGCYSFIHLS FQQFLTALFY
ALEKEEGEDR DGHAWDIGDV QKLLSGEERL KNPDLIQVGH FLFGLANEKR AKELEATFGC
RMSPDIKQEL LQCKAHLHAN KPLSVTDLKE VLGCLYESQE EELAKVVVAP FKEISIHLTN
TSEVMHCSFS LKHCQDLQKL SLQVAKGVFL ENYMDFELDI EFERCTYLTI PNWARQDLRS
LRLWTDFCSL FSSNSNLKFL EVKQSFLSDS SVRILCDHVT RSTCHLQKVE IKNVTPDTAY
RDFCLAFIGK KTLTHLTLAG HIEWERTMML MLCDLLRNHK CNLQYLRLGG HCATPEQWAE
FFYVLKANQS LKHLRLSANV LLDEGAMLLY KTMTRPKHFL QMLSLENCRL TEASCKDLAA
VLVVSKKLTH LCLAKNPIGD TGVKFLCEGL SYPDCKLQTL VLQQCSITKL GCRYLSEALQ
EACSLTNLDL SINQIARGLW ILCQALENPN CNLKHLRLKT YETNLEIKKL LEEVKEKNPK
LTIDCNASGA TAPPCCDFFC *
mutated AA sequence MTSPQLEWTL QTLLEQLNED ELKSFKSLLW AFPLEDVLQK TPWSEVEEAD GKKLAEILVN
TSSENWIRNA TVNILEEMNL TELCKMAKAE MMEDGQVQEI DNPELGDAEE DSELAKPGEK
EGWRNSMEKQ SLVWKNTFWQ GDIDNFHDDV TLRNQRFIPF LNPRTPRKLT PYTVVLHGPA
GVGKTTLAKK CMLDWTDCNL SPTLRYAFYL SCKELSRMGP CSFAELISKD WPELQDDIPS
ILAQAQRILF VVDGLDELKV PPGALIQDIC GDWEKKKPVP VLLGSLLKRK MLPRAALLVT
TRPRALRDLQ LLAQQPIYIR VEGFLEEDRR AYFLRHFGDE DQAMRAFELM RSNAALFQLG
SAPAVCWIVC TTLKLQMEKG EDPVPTCLTR TGLFLRFLCS RFPQGAQLRG ALRTLSLLAA
QGLWAQMSVF HREDLERLGV QESDLRLFLD GDILRQDRVS KGCYSFIHLS FQQFLTALFY
ALEKEEGEDR DGHAWDIGDV QKLLSGEERL KNPDLIQVGH FLFGLANEKR AKELEATFGC
RMSPDIKQEL LQCKAHLHAN KPLSVTDLKE VLGCLYESQE EELAKVVVAP FKEISIHLTN
TSEVMHCSFS LKHCQDLQKL SLQVAKGVFL ENYMDFELDI EFERCTYLTI PNWARQDLRS
LRLWTDFCSL FSSNSNLKFL EVKQSFLSDS SVRILCDHVT RSTCHLQKVE IKNVTPDTAY
RDFCLAFIGK KTLTHLTLAG HIEWERTMML MLCDLLRNHK CNLQYLRLGG HCATPEQWAE
FFYVLKANQS LKHLRLSANV LLDEGAMLLY KTMTRPKHFL QMLSLENCRL TEASCKDLAA
VLVVSKKLTH LCLAKNPIGD TGVKFLCEGL SYPDCKLQTL VLQQCSITKL GCRYLSEALQ
EACSLTNLDL SINQIARGLW ILCQALENPN CNLKHLRLKT YETNLEIKKL LEEVKEKNPK
LTIDCNASGA TAPPCCDFFC *
speed 1.91 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: 0.999999999995584 (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) chr19:55451232C>TN/A show variant in all transcripts   IGV
HGNC symbol NLRP7
Ensembl transcript ID ENST00000592784
Genbank transcript ID N/A
UniProt peptide Q8WX94
alteration type single base exchange
alteration region CDS
DNA changes c.955G>A
cDNA.1023G>A
g.26449G>A
AA changes V319I Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS
319
frameshift no
known variant Reference ID: rs775882
databasehomozygous (T/T)heterozygousallele carriers
1000G2459571202
ExAC39032137525278
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2840
-3.4760
(flanking)-0.3460
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased26454wt: 0.9733 / mu: 0.9904 (marginal change - not scored)wt: GTAAGGGTGGAGGGC
mu: ATAAGGGTGGAGGGC
 AAGG|gtgg
Donor marginally increased26447wt: 0.9635 / mu: 0.9822 (marginal change - not scored)wt: GATCTACGTAAGGGT
mu: GATCTACATAAGGGT
 TCTA|cgta
Acc gained264520.31mu: CGCAGCAGCCGATCTACATAAGGGTGGAGGGCTTCCTGGAG ataa|GGGT
Donor gained264520.43mu: ACATAAGGGTGGAGG ATAA|gggt
Donor gained264490.37mu: TCTACATAAGGGTGG TACA|taag
distance from splice site 603
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      319DLQLLAQQPIYVRVEGFLEEDRRA
mutated  all conserved    319DLQLLAQQPIYIRVEGFLEEDRR
Ptroglodytes  all identical  ENSPTRG00000011479  347DLQLLAQQPIYVRVEGFLEEDRR
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000035177  327QIFVMMDQPLLVETLGFLEQEKQ
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000088955  311TLTNLLKFPQRFSEIMGFSEKGVK
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
172491DOMAINNACHT.lost
481481CONFLICTA -> T (in Ref. 4; AAI09126).might get lost (downstream of altered splice site)
614638REPEATLRR 1.might get lost (downstream of altered splice site)
674697REPEATLRR 2.might get lost (downstream of altered splice site)
760784REPEATLRR 3.might get lost (downstream of altered splice site)
788810REPEATLRR 4.might get lost (downstream of altered splice site)
817840REPEATLRR 5.might get lost (downstream of altered splice site)
845868REPEATLRR 6.might get lost (downstream of altered splice site)
874897REPEATLRR 7.might get lost (downstream of altered splice site)
902928REPEATLRR 8.might get lost (downstream of altered splice site)
933957REPEATLRR 9.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3114 / 3114
position (AA) of stopcodon in wt / mu AA sequence 1038 / 1038
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 69 / 69
chromosome 19
strand -1
last intron/exon boundary 3050
theoretical NMD boundary in CDS 2931
length of CDS 3114
coding sequence (CDS) position 955
cDNA position
(for ins/del: last normal base / first normal base)
1023
gDNA position
(for ins/del: last normal base / first normal base)
26449
chromosomal position
(for ins/del: last normal base / first normal base)
55451232
original gDNA sequence snippet TGGCGCAGCAGCCGATCTACGTAAGGGTGGAGGGCTTCCTG
altered gDNA sequence snippet TGGCGCAGCAGCCGATCTACATAAGGGTGGAGGGCTTCCTG
original cDNA sequence snippet TGGCGCAGCAGCCGATCTACGTAAGGGTGGAGGGCTTCCTG
altered cDNA sequence snippet TGGCGCAGCAGCCGATCTACATAAGGGTGGAGGGCTTCCTG
wildtype AA sequence MTSPQLEWTL QTLLEQLNED ELKSFKSLLW AFPLEDVLQK TPWSEVEEAD GKKLAEILVN
TSSENWIRNA TVNILEEMNL TELCKMAKAE MMEDGQVQEI DNPELGDAEE DSELAKPGEK
EGWRNSMEKQ SLVWKNTFWQ GDIDNFHDDV TLRNQRFIPF LNPRTPRKLT PYTVVLHGPA
GVGKTTLAKK CMLDWTDCNL SPTLRYAFYL SCKELSRMGP CSFAELISKD WPELQDDIPS
ILAQAQRILF VVDGLDELKV PPGALIQDIC GDWEKKKPVP VLLGSLLKRK MLPRAALLVT
TRPRALRDLQ LLAQQPIYVR VEGFLEEDRR AYFLRHFGDE DQAMRAFELM RSNAALFQLG
SAPAVCWIVC TTLKLQMEKG EDPVPTCLTR TGLFLRFLCS RFPQGAQLRG ALRTLSLLAA
QGLWAQMSVF HREDLERLGV QESDLRLFLD GDILRQDRVS KGCYSFIHLS FQQFLTALFY
ALEKEEGEDR DGHAWDIGDV QKLLSGEERL KNPDLIQVGH FLFGLANEKR AKELEATFGC
RMSPDIKQEL LQCKAHLHAN KPLSVTDLKE VLGCLYESQE EELAKVVVAP FKEISIHLTN
TSEVMHCSFS LKHCQDLQKL SLQVAKGVFL ENYMDFELDI EFERCTYLTI PNWARQDLRS
LRLWTDFCSL FSSNSNLKFL EVKQSFLSDS SVRILCDHVT RSTCHLQKVE IKNVTPDTAY
RDFCLAFIGK KTLTHLTLAG HIEWERTMML MLCDLLRNHK CNLQYLRLGG HCATPEQWAE
FFYVLKANQS LKHLRLSANV LLDEGAMLLY KTMTRPKHFL QMLSLENCRL TEASCKDLAA
VLVVSKKLTH LCLAKNPIGD TGVKFLCEGL SYPDCKLQTL VLQQCSITKL GCRYLSEALQ
EACSLTNLDL SINQIARGLW ILCQALENPN CNLKHLRLWS CSLMPFYCQH LGSALLSNQK
LETLDLGQNH LWKSGIIKLF GVLRQRTGSL KILRLKTYET NLEIKKLLEE VKEKNPKLTI
DCNASGATAP PCCDFFC*
mutated AA sequence MTSPQLEWTL QTLLEQLNED ELKSFKSLLW AFPLEDVLQK TPWSEVEEAD GKKLAEILVN
TSSENWIRNA TVNILEEMNL TELCKMAKAE MMEDGQVQEI DNPELGDAEE DSELAKPGEK
EGWRNSMEKQ SLVWKNTFWQ GDIDNFHDDV TLRNQRFIPF LNPRTPRKLT PYTVVLHGPA
GVGKTTLAKK CMLDWTDCNL SPTLRYAFYL SCKELSRMGP CSFAELISKD WPELQDDIPS
ILAQAQRILF VVDGLDELKV PPGALIQDIC GDWEKKKPVP VLLGSLLKRK MLPRAALLVT
TRPRALRDLQ LLAQQPIYIR VEGFLEEDRR AYFLRHFGDE DQAMRAFELM RSNAALFQLG
SAPAVCWIVC TTLKLQMEKG EDPVPTCLTR TGLFLRFLCS RFPQGAQLRG ALRTLSLLAA
QGLWAQMSVF HREDLERLGV QESDLRLFLD GDILRQDRVS KGCYSFIHLS FQQFLTALFY
ALEKEEGEDR DGHAWDIGDV QKLLSGEERL KNPDLIQVGH FLFGLANEKR AKELEATFGC
RMSPDIKQEL LQCKAHLHAN KPLSVTDLKE VLGCLYESQE EELAKVVVAP FKEISIHLTN
TSEVMHCSFS LKHCQDLQKL SLQVAKGVFL ENYMDFELDI EFERCTYLTI PNWARQDLRS
LRLWTDFCSL FSSNSNLKFL EVKQSFLSDS SVRILCDHVT RSTCHLQKVE IKNVTPDTAY
RDFCLAFIGK KTLTHLTLAG HIEWERTMML MLCDLLRNHK CNLQYLRLGG HCATPEQWAE
FFYVLKANQS LKHLRLSANV LLDEGAMLLY KTMTRPKHFL QMLSLENCRL TEASCKDLAA
VLVVSKKLTH LCLAKNPIGD TGVKFLCEGL SYPDCKLQTL VLQQCSITKL GCRYLSEALQ
EACSLTNLDL SINQIARGLW ILCQALENPN CNLKHLRLWS CSLMPFYCQH LGSALLSNQK
LETLDLGQNH LWKSGIIKLF GVLRQRTGSL KILRLKTYET NLEIKKLLEE VKEKNPKLTI
DCNASGATAP PCCDFFC*
speed 1.55 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: 0.999999999995584 (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) chr19:55451232C>TN/A show variant in all transcripts   IGV
HGNC symbol NLRP7
Ensembl transcript ID ENST00000328092
Genbank transcript ID N/A
UniProt peptide Q8WX94
alteration type single base exchange
alteration region CDS
DNA changes c.955G>A
cDNA.994G>A
g.26449G>A
AA changes V319I Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS
319
frameshift no
known variant Reference ID: rs775882
databasehomozygous (T/T)heterozygousallele carriers
1000G2459571202
ExAC39032137525278
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2840
-3.4760
(flanking)-0.3460
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased26454wt: 0.9733 / mu: 0.9904 (marginal change - not scored)wt: GTAAGGGTGGAGGGC
mu: ATAAGGGTGGAGGGC
 AAGG|gtgg
Donor marginally increased26447wt: 0.9635 / mu: 0.9822 (marginal change - not scored)wt: GATCTACGTAAGGGT
mu: GATCTACATAAGGGT
 TCTA|cgta
Acc gained264520.31mu: CGCAGCAGCCGATCTACATAAGGGTGGAGGGCTTCCTGGAG ataa|GGGT
Donor gained264520.43mu: ACATAAGGGTGGAGG ATAA|gggt
Donor gained264490.37mu: TCTACATAAGGGTGG TACA|taag
distance from splice site 603
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      319DLQLLAQQPIYVRVEGFLEEDRRA
mutated  all conserved    319DLQLLAQQPIYIRVEGFLEEDRR
Ptroglodytes  all identical  ENSPTRG00000011479  347DLQLLAQQPIYVRVEGFLEEDRR
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000035177  327QIFVMMDQPLLVETLGFLEQEKQ
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000088955  311TLTNLLKFPQRFSEIMGFSEKGVK
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
172491DOMAINNACHT.lost
481481CONFLICTA -> T (in Ref. 4; AAI09126).might get lost (downstream of altered splice site)
614638REPEATLRR 1.might get lost (downstream of altered splice site)
674697REPEATLRR 2.might get lost (downstream of altered splice site)
760784REPEATLRR 3.might get lost (downstream of altered splice site)
788810REPEATLRR 4.might get lost (downstream of altered splice site)
817840REPEATLRR 5.might get lost (downstream of altered splice site)
845868REPEATLRR 6.might get lost (downstream of altered splice site)
874897REPEATLRR 7.might get lost (downstream of altered splice site)
902928REPEATLRR 8.might get lost (downstream of altered splice site)
933957REPEATLRR 9.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3030 / 3030
position (AA) of stopcodon in wt / mu AA sequence 1010 / 1010
position of stopcodon in wt / mu cDNA 3069 / 3069
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 40 / 40
chromosome 19
strand -1
last intron/exon boundary 2937
theoretical NMD boundary in CDS 2847
length of CDS 3030
coding sequence (CDS) position 955
cDNA position
(for ins/del: last normal base / first normal base)
994
gDNA position
(for ins/del: last normal base / first normal base)
26449
chromosomal position
(for ins/del: last normal base / first normal base)
55451232
original gDNA sequence snippet TGGCGCAGCAGCCGATCTACGTAAGGGTGGAGGGCTTCCTG
altered gDNA sequence snippet TGGCGCAGCAGCCGATCTACATAAGGGTGGAGGGCTTCCTG
original cDNA sequence snippet TGGCGCAGCAGCCGATCTACGTAAGGGTGGAGGGCTTCCTG
altered cDNA sequence snippet TGGCGCAGCAGCCGATCTACATAAGGGTGGAGGGCTTCCTG
wildtype AA sequence MTSPQLEWTL QTLLEQLNED ELKSFKSLLW AFPLEDVLQK TPWSEVEEAD GKKLAEILVN
TSSENWIRNA TVNILEEMNL TELCKMAKAE MMEDGQVQEI DNPELGDAEE DSELAKPGEK
EGWRNSMEKQ SLVWKNTFWQ GDIDNFHDDV TLRNQRFIPF LNPRTPRKLT PYTVVLHGPA
GVGKTTLAKK CMLDWTDCNL SPTLRYAFYL SCKELSRMGP CSFAELISKD WPELQDDIPS
ILAQAQRILF VVDGLDELKV PPGALIQDIC GDWEKKKPVP VLLGSLLKRK MLPRAALLVT
TRPRALRDLQ LLAQQPIYVR VEGFLEEDRR AYFLRHFGDE DQAMRAFELM RSNAALFQLG
SAPAVCWIVC TTLKLQMEKG EDPVPTCLTR TGLFLRFLCS RFPQGAQLRG ALRTLSLLAA
QGLWAQMSVF HREDLERLGV QESDLRLFLD GDILRQDRVS KGCYSFIHLS FQQFLTALFY
ALEKEEGEDR DGHAWDIGDV QKLLSGEERL KNPDLIQVGH FLFGLANEKR AKELEATFGC
RMSPDIKQEL LQCKAHLHAN KPLSVTDLKE VLGCLYESQE EELAKVVVAP FKEISIHLTN
TSEVMHCSFS LKHCQDLQKL SLQVAKGVFL ENYMDFELDI EFESSNSNLK FLEVKQSFLS
DSSVRILCDH VTRSTCHLQK VEIKNVTPDT AYRDFCLAFI GKKTLTHLTL AGHIEWERTM
MLMLCDLLRN HKCNLQYLRL GGHCATPEQW AEFFYVLKAN QSLKHLRLSA NVLLDEGAML
LYKTMTRPKH FLQMLSLENC RLTEASCKDL AAVLVVSKKL THLCLAKNPI GDTGVKFLCE
GLSYPDCKLQ TLVLQQCSIT KLGCRYLSEA LQEACSLTNL DLSINQIARG LWILCQALEN
PNCNLKHLRL WSCSLMPFYC QHLGSALLSN QKLETLDLGQ NHLWKSGIIK LFGVLRQRTG
SLKILRLKTY ETNLEIKKLL EEVKEKNPKL TIDCNASGAT APPCCDFFC*
mutated AA sequence MTSPQLEWTL QTLLEQLNED ELKSFKSLLW AFPLEDVLQK TPWSEVEEAD GKKLAEILVN
TSSENWIRNA TVNILEEMNL TELCKMAKAE MMEDGQVQEI DNPELGDAEE DSELAKPGEK
EGWRNSMEKQ SLVWKNTFWQ GDIDNFHDDV TLRNQRFIPF LNPRTPRKLT PYTVVLHGPA
GVGKTTLAKK CMLDWTDCNL SPTLRYAFYL SCKELSRMGP CSFAELISKD WPELQDDIPS
ILAQAQRILF VVDGLDELKV PPGALIQDIC GDWEKKKPVP VLLGSLLKRK MLPRAALLVT
TRPRALRDLQ LLAQQPIYIR VEGFLEEDRR AYFLRHFGDE DQAMRAFELM RSNAALFQLG
SAPAVCWIVC TTLKLQMEKG EDPVPTCLTR TGLFLRFLCS RFPQGAQLRG ALRTLSLLAA
QGLWAQMSVF HREDLERLGV QESDLRLFLD GDILRQDRVS KGCYSFIHLS FQQFLTALFY
ALEKEEGEDR DGHAWDIGDV QKLLSGEERL KNPDLIQVGH FLFGLANEKR AKELEATFGC
RMSPDIKQEL LQCKAHLHAN KPLSVTDLKE VLGCLYESQE EELAKVVVAP FKEISIHLTN
TSEVMHCSFS LKHCQDLQKL SLQVAKGVFL ENYMDFELDI EFESSNSNLK FLEVKQSFLS
DSSVRILCDH VTRSTCHLQK VEIKNVTPDT AYRDFCLAFI GKKTLTHLTL AGHIEWERTM
MLMLCDLLRN HKCNLQYLRL GGHCATPEQW AEFFYVLKAN QSLKHLRLSA NVLLDEGAML
LYKTMTRPKH FLQMLSLENC RLTEASCKDL AAVLVVSKKL THLCLAKNPI GDTGVKFLCE
GLSYPDCKLQ TLVLQQCSIT KLGCRYLSEA LQEACSLTNL DLSINQIARG LWILCQALEN
PNCNLKHLRL WSCSLMPFYC QHLGSALLSN QKLETLDLGQ NHLWKSGIIK LFGVLRQRTG
SLKILRLKTY ETNLEIKKLL EEVKEKNPKL TIDCNASGAT APPCCDFFC*
speed 2.06 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: 0.999999999995584 (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) chr19:55451232C>TN/A show variant in all transcripts   IGV
HGNC symbol NLRP7
Ensembl transcript ID ENST00000448121
Genbank transcript ID NM_139176
UniProt peptide Q8WX94
alteration type single base exchange
alteration region CDS
DNA changes c.955G>A
cDNA.1031G>A
g.26449G>A
AA changes V319I Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS
319
frameshift no
known variant Reference ID: rs775882
databasehomozygous (T/T)heterozygousallele carriers
1000G2459571202
ExAC39032137525278
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2840
-3.4760
(flanking)-0.3460
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased26454wt: 0.9733 / mu: 0.9904 (marginal change - not scored)wt: GTAAGGGTGGAGGGC
mu: ATAAGGGTGGAGGGC
 AAGG|gtgg
Donor marginally increased26447wt: 0.9635 / mu: 0.9822 (marginal change - not scored)wt: GATCTACGTAAGGGT
mu: GATCTACATAAGGGT
 TCTA|cgta
Acc gained264520.31mu: CGCAGCAGCCGATCTACATAAGGGTGGAGGGCTTCCTGGAG ataa|GGGT
Donor gained264520.43mu: ACATAAGGGTGGAGG ATAA|gggt
Donor gained264490.37mu: TCTACATAAGGGTGG TACA|taag
distance from splice site 603
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      319DLQLLAQQPIYVRVEGFLEEDRRA
mutated  all conserved    319DLQLLAQQPIYIRVEGFLEEDRR
Ptroglodytes  all identical  ENSPTRG00000011479  347DLQLLAQQPIYVRVEGFLEEDRR
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000035177  327QIFVMMDQPLLVETLGFLEQEKQ
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000088955  311TLTNLLKFPQRFSEIMGFSEKGVK
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
172491DOMAINNACHT.lost
481481CONFLICTA -> T (in Ref. 4; AAI09126).might get lost (downstream of altered splice site)
614638REPEATLRR 1.might get lost (downstream of altered splice site)
674697REPEATLRR 2.might get lost (downstream of altered splice site)
760784REPEATLRR 3.might get lost (downstream of altered splice site)
788810REPEATLRR 4.might get lost (downstream of altered splice site)
817840REPEATLRR 5.might get lost (downstream of altered splice site)
845868REPEATLRR 6.might get lost (downstream of altered splice site)
874897REPEATLRR 7.might get lost (downstream of altered splice site)
902928REPEATLRR 8.might get lost (downstream of altered splice site)
933957REPEATLRR 9.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3030 / 3030
position (AA) of stopcodon in wt / mu AA sequence 1010 / 1010
position of stopcodon in wt / mu cDNA 3106 / 3106
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 77 / 77
chromosome 19
strand -1
last intron/exon boundary 2974
theoretical NMD boundary in CDS 2847
length of CDS 3030
coding sequence (CDS) position 955
cDNA position
(for ins/del: last normal base / first normal base)
1031
gDNA position
(for ins/del: last normal base / first normal base)
26449
chromosomal position
(for ins/del: last normal base / first normal base)
55451232
original gDNA sequence snippet TGGCGCAGCAGCCGATCTACGTAAGGGTGGAGGGCTTCCTG
altered gDNA sequence snippet TGGCGCAGCAGCCGATCTACATAAGGGTGGAGGGCTTCCTG
original cDNA sequence snippet TGGCGCAGCAGCCGATCTACGTAAGGGTGGAGGGCTTCCTG
altered cDNA sequence snippet TGGCGCAGCAGCCGATCTACATAAGGGTGGAGGGCTTCCTG
wildtype AA sequence MTSPQLEWTL QTLLEQLNED ELKSFKSLLW AFPLEDVLQK TPWSEVEEAD GKKLAEILVN
TSSENWIRNA TVNILEEMNL TELCKMAKAE MMEDGQVQEI DNPELGDAEE DSELAKPGEK
EGWRNSMEKQ SLVWKNTFWQ GDIDNFHDDV TLRNQRFIPF LNPRTPRKLT PYTVVLHGPA
GVGKTTLAKK CMLDWTDCNL SPTLRYAFYL SCKELSRMGP CSFAELISKD WPELQDDIPS
ILAQAQRILF VVDGLDELKV PPGALIQDIC GDWEKKKPVP VLLGSLLKRK MLPRAALLVT
TRPRALRDLQ LLAQQPIYVR VEGFLEEDRR AYFLRHFGDE DQAMRAFELM RSNAALFQLG
SAPAVCWIVC TTLKLQMEKG EDPVPTCLTR TGLFLRFLCS RFPQGAQLRG ALRTLSLLAA
QGLWAQMSVF HREDLERLGV QESDLRLFLD GDILRQDRVS KGCYSFIHLS FQQFLTALFY
ALEKEEGEDR DGHAWDIGDV QKLLSGEERL KNPDLIQVGH FLFGLANEKR AKELEATFGC
RMSPDIKQEL LQCKAHLHAN KPLSVTDLKE VLGCLYESQE EELAKVVVAP FKEISIHLTN
TSEVMHCSFS LKHCQDLQKL SLQVAKGVFL ENYMDFELDI EFESSNSNLK FLEVKQSFLS
DSSVRILCDH VTRSTCHLQK VEIKNVTPDT AYRDFCLAFI GKKTLTHLTL AGHIEWERTM
MLMLCDLLRN HKCNLQYLRL GGHCATPEQW AEFFYVLKAN QSLKHLRLSA NVLLDEGAML
LYKTMTRPKH FLQMLSLENC RLTEASCKDL AAVLVVSKKL THLCLAKNPI GDTGVKFLCE
GLSYPDCKLQ TLVLQQCSIT KLGCRYLSEA LQEACSLTNL DLSINQIARG LWILCQALEN
PNCNLKHLRL WSCSLMPFYC QHLGSALLSN QKLETLDLGQ NHLWKSGIIK LFGVLRQRTG
SLKILRLKTY ETNLEIKKLL EEVKEKNPKL TIDCNASGAT APPCCDFFC*
mutated AA sequence MTSPQLEWTL QTLLEQLNED ELKSFKSLLW AFPLEDVLQK TPWSEVEEAD GKKLAEILVN
TSSENWIRNA TVNILEEMNL TELCKMAKAE MMEDGQVQEI DNPELGDAEE DSELAKPGEK
EGWRNSMEKQ SLVWKNTFWQ GDIDNFHDDV TLRNQRFIPF LNPRTPRKLT PYTVVLHGPA
GVGKTTLAKK CMLDWTDCNL SPTLRYAFYL SCKELSRMGP CSFAELISKD WPELQDDIPS
ILAQAQRILF VVDGLDELKV PPGALIQDIC GDWEKKKPVP VLLGSLLKRK MLPRAALLVT
TRPRALRDLQ LLAQQPIYIR VEGFLEEDRR AYFLRHFGDE DQAMRAFELM RSNAALFQLG
SAPAVCWIVC TTLKLQMEKG EDPVPTCLTR TGLFLRFLCS RFPQGAQLRG ALRTLSLLAA
QGLWAQMSVF HREDLERLGV QESDLRLFLD GDILRQDRVS KGCYSFIHLS FQQFLTALFY
ALEKEEGEDR DGHAWDIGDV QKLLSGEERL KNPDLIQVGH FLFGLANEKR AKELEATFGC
RMSPDIKQEL LQCKAHLHAN KPLSVTDLKE VLGCLYESQE EELAKVVVAP FKEISIHLTN
TSEVMHCSFS LKHCQDLQKL SLQVAKGVFL ENYMDFELDI EFESSNSNLK FLEVKQSFLS
DSSVRILCDH VTRSTCHLQK VEIKNVTPDT AYRDFCLAFI GKKTLTHLTL AGHIEWERTM
MLMLCDLLRN HKCNLQYLRL GGHCATPEQW AEFFYVLKAN QSLKHLRLSA NVLLDEGAML
LYKTMTRPKH FLQMLSLENC RLTEASCKDL AAVLVVSKKL THLCLAKNPI GDTGVKFLCE
GLSYPDCKLQ TLVLQQCSIT KLGCRYLSEA LQEACSLTNL DLSINQIARG LWILCQALEN
PNCNLKHLRL WSCSLMPFYC QHLGSALLSN QKLETLDLGQ NHLWKSGIIK LFGVLRQRTG
SLKILRLKTY ETNLEIKKLL EEVKEKNPKL TIDCNASGAT APPCCDFFC*
speed 1.64 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: 0.999999999995584 (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) chr19:55451232C>TN/A show variant in all transcripts   IGV
HGNC symbol NLRP7
Ensembl transcript ID ENST00000588756
Genbank transcript ID NM_001127255
UniProt peptide Q8WX94
alteration type single base exchange
alteration region CDS
DNA changes c.955G>A
cDNA.1442G>A
g.26449G>A
AA changes V319I Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS
319
frameshift no
known variant Reference ID: rs775882
databasehomozygous (T/T)heterozygousallele carriers
1000G2459571202
ExAC39032137525278
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2840
-3.4760
(flanking)-0.3460
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased26454wt: 0.9733 / mu: 0.9904 (marginal change - not scored)wt: GTAAGGGTGGAGGGC
mu: ATAAGGGTGGAGGGC
 AAGG|gtgg
Donor marginally increased26447wt: 0.9635 / mu: 0.9822 (marginal change - not scored)wt: GATCTACGTAAGGGT
mu: GATCTACATAAGGGT
 TCTA|cgta
Acc gained264520.31mu: CGCAGCAGCCGATCTACATAAGGGTGGAGGGCTTCCTGGAG ataa|GGGT
Donor gained264520.43mu: ACATAAGGGTGGAGG ATAA|gggt
Donor gained264490.37mu: TCTACATAAGGGTGG TACA|taag
distance from splice site 603
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      319DLQLLAQQPIYVRVEGFLEEDRRA
mutated  all conserved    319DLQLLAQQPIYIRVEGFLEEDRR
Ptroglodytes  all identical  ENSPTRG00000011479  347DLQLLAQQPIYVRVEGFLEEDRR
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000035177  327QIFVMMDQPLLVETLGFLEQEKQ
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000088955  311TLTNLLKFPQRFSEIMGFSEKGVK
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
172491DOMAINNACHT.lost
481481CONFLICTA -> T (in Ref. 4; AAI09126).might get lost (downstream of altered splice site)
614638REPEATLRR 1.might get lost (downstream of altered splice site)
674697REPEATLRR 2.might get lost (downstream of altered splice site)
760784REPEATLRR 3.might get lost (downstream of altered splice site)
788810REPEATLRR 4.might get lost (downstream of altered splice site)
817840REPEATLRR 5.might get lost (downstream of altered splice site)
845868REPEATLRR 6.might get lost (downstream of altered splice site)
874897REPEATLRR 7.might get lost (downstream of altered splice site)
902928REPEATLRR 8.might get lost (downstream of altered splice site)
933957REPEATLRR 9.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3114 / 3114
position (AA) of stopcodon in wt / mu AA sequence 1038 / 1038
position of stopcodon in wt / mu cDNA 3601 / 3601
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 488 / 488
chromosome 19
strand -1
last intron/exon boundary 3469
theoretical NMD boundary in CDS 2931
length of CDS 3114
coding sequence (CDS) position 955
cDNA position
(for ins/del: last normal base / first normal base)
1442
gDNA position
(for ins/del: last normal base / first normal base)
26449
chromosomal position
(for ins/del: last normal base / first normal base)
55451232
original gDNA sequence snippet TGGCGCAGCAGCCGATCTACGTAAGGGTGGAGGGCTTCCTG
altered gDNA sequence snippet TGGCGCAGCAGCCGATCTACATAAGGGTGGAGGGCTTCCTG
original cDNA sequence snippet TGGCGCAGCAGCCGATCTACGTAAGGGTGGAGGGCTTCCTG
altered cDNA sequence snippet TGGCGCAGCAGCCGATCTACATAAGGGTGGAGGGCTTCCTG
wildtype AA sequence MTSPQLEWTL QTLLEQLNED ELKSFKSLLW AFPLEDVLQK TPWSEVEEAD GKKLAEILVN
TSSENWIRNA TVNILEEMNL TELCKMAKAE MMEDGQVQEI DNPELGDAEE DSELAKPGEK
EGWRNSMEKQ SLVWKNTFWQ GDIDNFHDDV TLRNQRFIPF LNPRTPRKLT PYTVVLHGPA
GVGKTTLAKK CMLDWTDCNL SPTLRYAFYL SCKELSRMGP CSFAELISKD WPELQDDIPS
ILAQAQRILF VVDGLDELKV PPGALIQDIC GDWEKKKPVP VLLGSLLKRK MLPRAALLVT
TRPRALRDLQ LLAQQPIYVR VEGFLEEDRR AYFLRHFGDE DQAMRAFELM RSNAALFQLG
SAPAVCWIVC TTLKLQMEKG EDPVPTCLTR TGLFLRFLCS RFPQGAQLRG ALRTLSLLAA
QGLWAQMSVF HREDLERLGV QESDLRLFLD GDILRQDRVS KGCYSFIHLS FQQFLTALFY
ALEKEEGEDR DGHAWDIGDV QKLLSGEERL KNPDLIQVGH FLFGLANEKR AKELEATFGC
RMSPDIKQEL LQCKAHLHAN KPLSVTDLKE VLGCLYESQE EELAKVVVAP FKEISIHLTN
TSEVMHCSFS LKHCQDLQKL SLQVAKGVFL ENYMDFELDI EFERCTYLTI PNWARQDLRS
LRLWTDFCSL FSSNSNLKFL EVKQSFLSDS SVRILCDHVT RSTCHLQKVE IKNVTPDTAY
RDFCLAFIGK KTLTHLTLAG HIEWERTMML MLCDLLRNHK CNLQYLRLGG HCATPEQWAE
FFYVLKANQS LKHLRLSANV LLDEGAMLLY KTMTRPKHFL QMLSLENCRL TEASCKDLAA
VLVVSKKLTH LCLAKNPIGD TGVKFLCEGL SYPDCKLQTL VLQQCSITKL GCRYLSEALQ
EACSLTNLDL SINQIARGLW ILCQALENPN CNLKHLRLWS CSLMPFYCQH LGSALLSNQK
LETLDLGQNH LWKSGIIKLF GVLRQRTGSL KILRLKTYET NLEIKKLLEE VKEKNPKLTI
DCNASGATAP PCCDFFC*
mutated AA sequence MTSPQLEWTL QTLLEQLNED ELKSFKSLLW AFPLEDVLQK TPWSEVEEAD GKKLAEILVN
TSSENWIRNA TVNILEEMNL TELCKMAKAE MMEDGQVQEI DNPELGDAEE DSELAKPGEK
EGWRNSMEKQ SLVWKNTFWQ GDIDNFHDDV TLRNQRFIPF LNPRTPRKLT PYTVVLHGPA
GVGKTTLAKK CMLDWTDCNL SPTLRYAFYL SCKELSRMGP CSFAELISKD WPELQDDIPS
ILAQAQRILF VVDGLDELKV PPGALIQDIC GDWEKKKPVP VLLGSLLKRK MLPRAALLVT
TRPRALRDLQ LLAQQPIYIR VEGFLEEDRR AYFLRHFGDE DQAMRAFELM RSNAALFQLG
SAPAVCWIVC TTLKLQMEKG EDPVPTCLTR TGLFLRFLCS RFPQGAQLRG ALRTLSLLAA
QGLWAQMSVF HREDLERLGV QESDLRLFLD GDILRQDRVS KGCYSFIHLS FQQFLTALFY
ALEKEEGEDR DGHAWDIGDV QKLLSGEERL KNPDLIQVGH FLFGLANEKR AKELEATFGC
RMSPDIKQEL LQCKAHLHAN KPLSVTDLKE VLGCLYESQE EELAKVVVAP FKEISIHLTN
TSEVMHCSFS LKHCQDLQKL SLQVAKGVFL ENYMDFELDI EFERCTYLTI PNWARQDLRS
LRLWTDFCSL FSSNSNLKFL EVKQSFLSDS SVRILCDHVT RSTCHLQKVE IKNVTPDTAY
RDFCLAFIGK KTLTHLTLAG HIEWERTMML MLCDLLRNHK CNLQYLRLGG HCATPEQWAE
FFYVLKANQS LKHLRLSANV LLDEGAMLLY KTMTRPKHFL QMLSLENCRL TEASCKDLAA
VLVVSKKLTH LCLAKNPIGD TGVKFLCEGL SYPDCKLQTL VLQQCSITKL GCRYLSEALQ
EACSLTNLDL SINQIARGLW ILCQALENPN CNLKHLRLWS CSLMPFYCQH LGSALLSNQK
LETLDLGQNH LWKSGIIKLF GVLRQRTGSL KILRLKTYET NLEIKKLLEE VKEKNPKLTI
DCNASGATAP PCCDFFC*
speed 1.62 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: 0.999999999995584 (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) chr19:55451232C>TN/A show variant in all transcripts   IGV
HGNC symbol NLRP7
Ensembl transcript ID ENST00000340844
Genbank transcript ID NM_206828
UniProt peptide Q8WX94
alteration type single base exchange
alteration region CDS
DNA changes c.955G>A
cDNA.1031G>A
g.26449G>A
AA changes V319I Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS
319
frameshift no
known variant Reference ID: rs775882
databasehomozygous (T/T)heterozygousallele carriers
1000G2459571202
ExAC39032137525278
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2840
-3.4760
(flanking)-0.3460
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased26454wt: 0.9733 / mu: 0.9904 (marginal change - not scored)wt: GTAAGGGTGGAGGGC
mu: ATAAGGGTGGAGGGC
 AAGG|gtgg
Donor marginally increased26447wt: 0.9635 / mu: 0.9822 (marginal change - not scored)wt: GATCTACGTAAGGGT
mu: GATCTACATAAGGGT
 TCTA|cgta
Acc gained264520.31mu: CGCAGCAGCCGATCTACATAAGGGTGGAGGGCTTCCTGGAG ataa|GGGT
Donor gained264520.43mu: ACATAAGGGTGGAGG ATAA|gggt
Donor gained264490.37mu: TCTACATAAGGGTGG TACA|taag
distance from splice site 603
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      319DLQLLAQQPIYVRVEGFLEEDRRA
mutated  all conserved    319DLQLLAQQPIYIRVEGFLEEDRR
Ptroglodytes  all identical  ENSPTRG00000011479  347DLQLLAQQPIYVRVEGFLEEDRR
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000035177  327QIFVMMDQPLLVETLGFLEQEKQ
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000088955  311TLTNLLKFPQRFSEIMGFSEKGVK
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
172491DOMAINNACHT.lost
481481CONFLICTA -> T (in Ref. 4; AAI09126).might get lost (downstream of altered splice site)
614638REPEATLRR 1.might get lost (downstream of altered splice site)
674697REPEATLRR 2.might get lost (downstream of altered splice site)
760784REPEATLRR 3.might get lost (downstream of altered splice site)
788810REPEATLRR 4.might get lost (downstream of altered splice site)
817840REPEATLRR 5.might get lost (downstream of altered splice site)
845868REPEATLRR 6.might get lost (downstream of altered splice site)
874897REPEATLRR 7.might get lost (downstream of altered splice site)
902928REPEATLRR 8.might get lost (downstream of altered splice site)
933957REPEATLRR 9.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2943 / 2943
position (AA) of stopcodon in wt / mu AA sequence 981 / 981
position of stopcodon in wt / mu cDNA 3019 / 3019
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 77 / 77
chromosome 19
strand -1
last intron/exon boundary 2887
theoretical NMD boundary in CDS 2760
length of CDS 2943
coding sequence (CDS) position 955
cDNA position
(for ins/del: last normal base / first normal base)
1031
gDNA position
(for ins/del: last normal base / first normal base)
26449
chromosomal position
(for ins/del: last normal base / first normal base)
55451232
original gDNA sequence snippet TGGCGCAGCAGCCGATCTACGTAAGGGTGGAGGGCTTCCTG
altered gDNA sequence snippet TGGCGCAGCAGCCGATCTACATAAGGGTGGAGGGCTTCCTG
original cDNA sequence snippet TGGCGCAGCAGCCGATCTACGTAAGGGTGGAGGGCTTCCTG
altered cDNA sequence snippet TGGCGCAGCAGCCGATCTACATAAGGGTGGAGGGCTTCCTG
wildtype AA sequence MTSPQLEWTL QTLLEQLNED ELKSFKSLLW AFPLEDVLQK TPWSEVEEAD GKKLAEILVN
TSSENWIRNA TVNILEEMNL TELCKMAKAE MMEDGQVQEI DNPELGDAEE DSELAKPGEK
EGWRNSMEKQ SLVWKNTFWQ GDIDNFHDDV TLRNQRFIPF LNPRTPRKLT PYTVVLHGPA
GVGKTTLAKK CMLDWTDCNL SPTLRYAFYL SCKELSRMGP CSFAELISKD WPELQDDIPS
ILAQAQRILF VVDGLDELKV PPGALIQDIC GDWEKKKPVP VLLGSLLKRK MLPRAALLVT
TRPRALRDLQ LLAQQPIYVR VEGFLEEDRR AYFLRHFGDE DQAMRAFELM RSNAALFQLG
SAPAVCWIVC TTLKLQMEKG EDPVPTCLTR TGLFLRFLCS RFPQGAQLRG ALRTLSLLAA
QGLWAQMSVF HREDLERLGV QESDLRLFLD GDILRQDRVS KGCYSFIHLS FQQFLTALFY
ALEKEEGEDR DGHAWDIGDV QKLLSGEERL KNPDLIQVGH FLFGLANEKR AKELEATFGC
RMSPDIKQEL LQCKAHLHAN KPLSVTDLKE VLGCLYESQE EELAKVVVAP FKEISIHLTN
TSEVMHCSFS LKHCQDLQKL SLQVAKGVFL ENYMDFELDI EFERCTYLTI PNWARQDLRS
LRLWTDFCSL FSSNSNLKFL EVKQSFLSDS SVRILCDHVT RSTCHLQKVE IKNVTPDTAY
RDFCLAFIGK KTLTHLTLAG HIEWERTMML MLCDLLRNHK CNLQYLRLGG HCATPEQWAE
FFYVLKANQS LKHLRLSANV LLDEGAMLLY KTMTRPKHFL QMLSLENCRL TEASCKDLAA
VLVVSKKLTH LCLAKNPIGD TGVKFLCEGL SYPDCKLQTL VLQQCSITKL GCRYLSEALQ
EACSLTNLDL SINQIARGLW ILCQALENPN CNLKHLRLKT YETNLEIKKL LEEVKEKNPK
LTIDCNASGA TAPPCCDFFC *
mutated AA sequence MTSPQLEWTL QTLLEQLNED ELKSFKSLLW AFPLEDVLQK TPWSEVEEAD GKKLAEILVN
TSSENWIRNA TVNILEEMNL TELCKMAKAE MMEDGQVQEI DNPELGDAEE DSELAKPGEK
EGWRNSMEKQ SLVWKNTFWQ GDIDNFHDDV TLRNQRFIPF LNPRTPRKLT PYTVVLHGPA
GVGKTTLAKK CMLDWTDCNL SPTLRYAFYL SCKELSRMGP CSFAELISKD WPELQDDIPS
ILAQAQRILF VVDGLDELKV PPGALIQDIC GDWEKKKPVP VLLGSLLKRK MLPRAALLVT
TRPRALRDLQ LLAQQPIYIR VEGFLEEDRR AYFLRHFGDE DQAMRAFELM RSNAALFQLG
SAPAVCWIVC TTLKLQMEKG EDPVPTCLTR TGLFLRFLCS RFPQGAQLRG ALRTLSLLAA
QGLWAQMSVF HREDLERLGV QESDLRLFLD GDILRQDRVS KGCYSFIHLS FQQFLTALFY
ALEKEEGEDR DGHAWDIGDV QKLLSGEERL KNPDLIQVGH FLFGLANEKR AKELEATFGC
RMSPDIKQEL LQCKAHLHAN KPLSVTDLKE VLGCLYESQE EELAKVVVAP FKEISIHLTN
TSEVMHCSFS LKHCQDLQKL SLQVAKGVFL ENYMDFELDI EFERCTYLTI PNWARQDLRS
LRLWTDFCSL FSSNSNLKFL EVKQSFLSDS SVRILCDHVT RSTCHLQKVE IKNVTPDTAY
RDFCLAFIGK KTLTHLTLAG HIEWERTMML MLCDLLRNHK CNLQYLRLGG HCATPEQWAE
FFYVLKANQS LKHLRLSANV LLDEGAMLLY KTMTRPKHFL QMLSLENCRL TEASCKDLAA
VLVVSKKLTH LCLAKNPIGD TGVKFLCEGL SYPDCKLQTL VLQQCSITKL GCRYLSEALQ
EACSLTNLDL SINQIARGLW ILCQALENPN CNLKHLRLKT YETNLEIKKL LEEVKEKNPK
LTIDCNASGA TAPPCCDFFC *
speed 1.79 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: 0.999999999995584 (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) chr19:55451232C>TN/A show variant in all transcripts   IGV
HGNC symbol NLRP7
Ensembl transcript ID ENST00000446217
Genbank transcript ID NM_001127255
UniProt peptide Q8WX94
alteration type single base exchange
alteration region CDS
DNA changes c.1039G>A
cDNA.1442G>A
g.26449G>A
AA changes V347I Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS
347
frameshift no
known variant Reference ID: rs775882
databasehomozygous (T/T)heterozygousallele carriers
1000G2459571202
ExAC39032137525278
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2840
-3.4760
(flanking)-0.3460
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased26454wt: 0.9733 / mu: 0.9904 (marginal change - not scored)wt: GTAAGGGTGGAGGGC
mu: ATAAGGGTGGAGGGC
 AAGG|gtgg
Donor marginally increased26447wt: 0.9635 / mu: 0.9822 (marginal change - not scored)wt: GATCTACGTAAGGGT
mu: GATCTACATAAGGGT
 TCTA|cgta
Acc gained264520.31mu: CGCAGCAGCCGATCTACATAAGGGTGGAGGGCTTCCTGGAG ataa|GGGT
Donor gained264520.43mu: ACATAAGGGTGGAGG ATAA|gggt
Donor gained264490.37mu: TCTACATAAGGGTGG TACA|taag
distance from splice site 603
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      347DLQLLAQQPIYVRVEGFLEEDRRA
mutated  all conserved    347DLQLLAQQPIYIRVEGFLEEDRR
Ptroglodytes  all identical  ENSPTRG00000011479  347DLQLLAQQPIYVRVEGFLEEDRR
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000035177  327QIFVMMDQPLLVETLGFLEQEKQ
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000088955  311TLTNLLKFPQRFSEIMGFSEKGVK
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
172491DOMAINNACHT.lost
481481CONFLICTA -> T (in Ref. 4; AAI09126).might get lost (downstream of altered splice site)
614638REPEATLRR 1.might get lost (downstream of altered splice site)
674697REPEATLRR 2.might get lost (downstream of altered splice site)
760784REPEATLRR 3.might get lost (downstream of altered splice site)
788810REPEATLRR 4.might get lost (downstream of altered splice site)
817840REPEATLRR 5.might get lost (downstream of altered splice site)
845868REPEATLRR 6.might get lost (downstream of altered splice site)
874897REPEATLRR 7.might get lost (downstream of altered splice site)
902928REPEATLRR 8.might get lost (downstream of altered splice site)
933957REPEATLRR 9.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3198 / 3198
position (AA) of stopcodon in wt / mu AA sequence 1066 / 1066
position of stopcodon in wt / mu cDNA 3601 / 3601
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 404 / 404
chromosome 19
strand -1
last intron/exon boundary 3469
theoretical NMD boundary in CDS 3015
length of CDS 3198
coding sequence (CDS) position 1039
cDNA position
(for ins/del: last normal base / first normal base)
1442
gDNA position
(for ins/del: last normal base / first normal base)
26449
chromosomal position
(for ins/del: last normal base / first normal base)
55451232
original gDNA sequence snippet TGGCGCAGCAGCCGATCTACGTAAGGGTGGAGGGCTTCCTG
altered gDNA sequence snippet TGGCGCAGCAGCCGATCTACATAAGGGTGGAGGGCTTCCTG
original cDNA sequence snippet TGGCGCAGCAGCCGATCTACGTAAGGGTGGAGGGCTTCCTG
altered cDNA sequence snippet TGGCGCAGCAGCCGATCTACATAAGGGTGGAGGGCTTCCTG
wildtype AA sequence MSRKHRLEAR PDLREFFSLN LRSHTRSTMT SPQLEWTLQT LLEQLNEDEL KSFKSLLWAF
PLEDVLQKTP WSEVEEADGK KLAEILVNTS SENWIRNATV NILEEMNLTE LCKMAKAEMM
EDGQVQEIDN PELGDAEEDS ELAKPGEKEG WRNSMEKQSL VWKNTFWQGD IDNFHDDVTL
RNQRFIPFLN PRTPRKLTPY TVVLHGPAGV GKTTLAKKCM LDWTDCNLSP TLRYAFYLSC
KELSRMGPCS FAELISKDWP ELQDDIPSIL AQAQRILFVV DGLDELKVPP GALIQDICGD
WEKKKPVPVL LGSLLKRKML PRAALLVTTR PRALRDLQLL AQQPIYVRVE GFLEEDRRAY
FLRHFGDEDQ AMRAFELMRS NAALFQLGSA PAVCWIVCTT LKLQMEKGED PVPTCLTRTG
LFLRFLCSRF PQGAQLRGAL RTLSLLAAQG LWAQMSVFHR EDLERLGVQE SDLRLFLDGD
ILRQDRVSKG CYSFIHLSFQ QFLTALFYAL EKEEGEDRDG HAWDIGDVQK LLSGEERLKN
PDLIQVGHFL FGLANEKRAK ELEATFGCRM SPDIKQELLQ CKAHLHANKP LSVTDLKEVL
GCLYESQEEE LAKVVVAPFK EISIHLTNTS EVMHCSFSLK HCQDLQKLSL QVAKGVFLEN
YMDFELDIEF ERCTYLTIPN WARQDLRSLR LWTDFCSLFS SNSNLKFLEV KQSFLSDSSV
RILCDHVTRS TCHLQKVEIK NVTPDTAYRD FCLAFIGKKT LTHLTLAGHI EWERTMMLML
CDLLRNHKCN LQYLRLGGHC ATPEQWAEFF YVLKANQSLK HLRLSANVLL DEGAMLLYKT
MTRPKHFLQM LSLENCRLTE ASCKDLAAVL VVSKKLTHLC LAKNPIGDTG VKFLCEGLSY
PDCKLQTLVL QQCSITKLGC RYLSEALQEA CSLTNLDLSI NQIARGLWIL CQALENPNCN
LKHLRLWSCS LMPFYCQHLG SALLSNQKLE TLDLGQNHLW KSGIIKLFGV LRQRTGSLKI
LRLKTYETNL EIKKLLEEVK EKNPKLTIDC NASGATAPPC CDFFC*
mutated AA sequence MSRKHRLEAR PDLREFFSLN LRSHTRSTMT SPQLEWTLQT LLEQLNEDEL KSFKSLLWAF
PLEDVLQKTP WSEVEEADGK KLAEILVNTS SENWIRNATV NILEEMNLTE LCKMAKAEMM
EDGQVQEIDN PELGDAEEDS ELAKPGEKEG WRNSMEKQSL VWKNTFWQGD IDNFHDDVTL
RNQRFIPFLN PRTPRKLTPY TVVLHGPAGV GKTTLAKKCM LDWTDCNLSP TLRYAFYLSC
KELSRMGPCS FAELISKDWP ELQDDIPSIL AQAQRILFVV DGLDELKVPP GALIQDICGD
WEKKKPVPVL LGSLLKRKML PRAALLVTTR PRALRDLQLL AQQPIYIRVE GFLEEDRRAY
FLRHFGDEDQ AMRAFELMRS NAALFQLGSA PAVCWIVCTT LKLQMEKGED PVPTCLTRTG
LFLRFLCSRF PQGAQLRGAL RTLSLLAAQG LWAQMSVFHR EDLERLGVQE SDLRLFLDGD
ILRQDRVSKG CYSFIHLSFQ QFLTALFYAL EKEEGEDRDG HAWDIGDVQK LLSGEERLKN
PDLIQVGHFL FGLANEKRAK ELEATFGCRM SPDIKQELLQ CKAHLHANKP LSVTDLKEVL
GCLYESQEEE LAKVVVAPFK EISIHLTNTS EVMHCSFSLK HCQDLQKLSL QVAKGVFLEN
YMDFELDIEF ERCTYLTIPN WARQDLRSLR LWTDFCSLFS SNSNLKFLEV KQSFLSDSSV
RILCDHVTRS TCHLQKVEIK NVTPDTAYRD FCLAFIGKKT LTHLTLAGHI EWERTMMLML
CDLLRNHKCN LQYLRLGGHC ATPEQWAEFF YVLKANQSLK HLRLSANVLL DEGAMLLYKT
MTRPKHFLQM LSLENCRLTE ASCKDLAAVL VVSKKLTHLC LAKNPIGDTG VKFLCEGLSY
PDCKLQTLVL QQCSITKLGC RYLSEALQEA CSLTNLDLSI NQIARGLWIL CQALENPNCN
LKHLRLWSCS LMPFYCQHLG SALLSNQKLE TLDLGQNHLW KSGIIKLFGV LRQRTGSLKI
LRLKTYETNL EIKKLLEEVK EKNPKLTIDC NASGATAPPC CDFFC*
speed 1.98 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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Problems