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: ENST00000368131
Querying Taster for transcript #2: ENST00000368132
Querying Taster for transcript #3: ENST00000295809
Querying Taster for transcript #4: ENST00000359709
Querying Taster for transcript #5: ENST00000448393
Querying Taster for transcript #6: ENST00000430894
Querying Taster for transcript #7: ENST00000340979
MT speed 0 s - this script 6.05961 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
IFI16polymorphism_automatic7.50510764646606e-14simple_aaeaffectedY413Nsingle base exchangers1057028show file
IFI16polymorphism_automatic7.50510764646606e-14simple_aaeaffectedY413Nsingle base exchangers1057028show file
IFI16polymorphism_automatic7.50510764646606e-14simple_aaeaffectedY413Nsingle base exchangers1057028show file
IFI16polymorphism_automatic7.50510764646606e-14simple_aaeaffectedY413Nsingle base exchangers1057028show file
IFI16polymorphism_automatic7.50510764646606e-14simple_aaeaffectedY413Nsingle base exchangers1057028show file
IFI16polymorphism_automatic1.62980740014973e-13simple_aaeaffectedY357Nsingle base exchangers1057028show file
IFI16polymorphism_automatic7.38964445190504e-13simple_aaeaffectedY361Nsingle base exchangers1057028show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999925 (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) chr1:159002389T>AN/A show variant in all transcripts   IGV
HGNC symbol IFI16
Ensembl transcript ID ENST00000368131
Genbank transcript ID NM_005531
UniProt peptide Q16666
alteration type single base exchange
alteration region CDS
DNA changes c.1237T>A
cDNA.1527T>A
g.32632T>A
AA changes Y413N Score: 142 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 413
frameshift no
known variant Reference ID: rs1057028
databasehomozygous (A/A)heterozygousallele carriers
1000G11059492054
ExAC---
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2780.046
-1.7260
(flanking)-0.0550
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased32637wt: 0.79 / mu: 0.88wt: TATCCTTCAGAGGCC
mu: AATCCTTCAGAGGCC		 TCCT|tcag
Donor gained326270.68mu: TCAGCTTCCAAATCC AGCT|tcca
distance from splice site 76
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      413MKLPQEQRQLPYPSEASTTFPESH
mutated  not conserved    413MKLPQEQRQLPNPSEASTT
Ptroglodytes  not conserved  ENSPTRG00000001518  413MKLPQEQSQLPNPSEASTT
Mmulatta  not conserved  ENSMMUG00000004490  413MKPPQEQSQLPNPSEAGKT
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
444444MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
451451MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
561561MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
561561CROSSLNKGlycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO-1).might get lost (downstream of altered splice site)
562761DOMAINHIN-200 2.might get lost (downstream of altered splice site)
571766REGIONInteraction with TP53 core domain.might get lost (downstream of altered splice site)
578585STRANDmight get lost (downstream of altered splice site)
589592STRANDmight get lost (downstream of altered splice site)
593596TURNmight get lost (downstream of altered splice site)
597605STRANDmight get lost (downstream of altered splice site)
598598MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
610615STRANDmight get lost (downstream of altered splice site)
614614MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
618620HELIXmight get lost (downstream of altered splice site)
621624TURNmight get lost (downstream of altered splice site)
627627MUTAGENK->A: Impairs DNA binding; when associated with A-663; A-667; A-670; A- 674; A-732; A-734 and A-759.might get lost (downstream of altered splice site)
629634STRANDmight get lost (downstream of altered splice site)
636638STRANDmight get lost (downstream of altered splice site)
641644STRANDmight get lost (downstream of altered splice site)
648652STRANDmight get lost (downstream of altered splice site)
655657STRANDmight get lost (downstream of altered splice site)
663663MUTAGENK->A: Impairs DNA binding; when associated with A-627; A-667; A-670; A- 674; A-732; A-734 and A-759.might get lost (downstream of altered splice site)
663670HELIXmight get lost (downstream of altered splice site)
667667MUTAGENR->A: Impairs DNA binding; when associated with A-627; A-663; A-670; A- 674; A-732; A-734 and A-759.might get lost (downstream of altered splice site)
670670MUTAGENS->A: Impairs DNA binding; when associated with A-627; A-663; A-667; A- 674; A-732; A-734 and A-759.might get lost (downstream of altered splice site)
674674MUTAGENK->A: Impairs DNA binding; when associated with A-627; A-663; A-667; A- 670; A-732; A-734 and A-759.might get lost (downstream of altered splice site)
675679HELIXmight get lost (downstream of altered splice site)
683683CONFLICTK -> R (in Ref. 4; AAM96005).might get lost (downstream of altered splice site)
685699STRANDmight get lost (downstream of altered splice site)
702709STRANDmight get lost (downstream of altered splice site)
712718STRANDmight get lost (downstream of altered splice site)
720724HELIXmight get lost (downstream of altered splice site)
723723CONFLICTT -> N (in Ref. 1; AAA58683 and 2; AAB32519).might get lost (downstream of altered splice site)
732732MUTAGENK->A: Impairs DNA binding; when associated with A-627; A-663; A-667; A- 670; A- 674; A-734 and A-759.might get lost (downstream of altered splice site)
732741STRANDmight get lost (downstream of altered splice site)
734734MUTAGENK->A: Impairs DNA binding; when associated with A-627; A-663; A-667; A- 670; A- 674; A-732 and A-759.might get lost (downstream of altered splice site)
737737CONFLICTC -> S (in Ref. 1; AAA58683 and 2; AAB32519).might get lost (downstream of altered splice site)
744747TURNmight get lost (downstream of altered splice site)
749761STRANDmight get lost (downstream of altered splice site)
759759MUTAGENK->A: Impairs DNA binding; when associated with A-627; A-663; A-667; A- 670; A- 674; A-732 and A-734.might get lost (downstream of altered splice site)
764766TURNmight get lost (downstream of altered splice site)
780780MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2190 / 2190
position (AA) of stopcodon in wt / mu AA sequence 730 / 730
position of stopcodon in wt / mu cDNA 2480 / 2480
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 291 / 291
chromosome 1
strand 1
last intron/exon boundary 2400
theoretical NMD boundary in CDS 2059
length of CDS 2190
coding sequence (CDS) position 1237
cDNA position
(for ins/del: last normal base / first normal base)		 1527
gDNA position
(for ins/del: last normal base / first normal base)		 32632
chromosomal position
(for ins/del: last normal base / first normal base)		 159002389
original gDNA sequence snippet AGGAACAGCGTCAGCTTCCATATCCTTCAGAGGCCAGCACA
altered gDNA sequence snippet AGGAACAGCGTCAGCTTCCAAATCCTTCAGAGGCCAGCACA
original cDNA sequence snippet AGGAACAGCGTCAGCTTCCATATCCTTCAGAGGCCAGCACA
altered cDNA sequence snippet AGGAACAGCGTCAGCTTCCAAATCCTTCAGAGGCCAGCACA
wildtype AA sequence MGKKYKNIVL LKGLEVINDY HFRMVKSLLS NDLKLNLKMR EEYDKIQIAD LMEEKFRGDA
GLGKLIKIFE DIPTLEDLAE TLKKEKLKVK GPALSRKRKK EVDATSPAPS TSSTVKTEGA
EATPGAQKRK KSTKEKAGPK GSKVSEEQTQ PPSPAGAGMS TAMGRSPSPK TSLSAPPNSS
STENPKTVAK CQVTPRRNVL QKRPVIVKVL STTKPFEYET PEMEKKIMFH ATVATQTQFF
HVKVLNTSLK EKFNGKKIII ISDYLEYDSL LEVNEESTVS EAGPNQTFEV PNKIINRAKE
TLKIDILHKQ ASGNIVYGVF MLHKKTVNQK TTIYEIQDDR GKMDVVGTGQ CHNIPCEEGD
KLQLFCFRLR KKNQMSKLIS EMHSFIQIKK KTNPRNNDPK SMKLPQEQRQ LPYPSEASTT
FPESHLRTPQ MPPTTPSSSF FTKKSEDTIS KMNDFMRMQI LKEGSHFPGP FMTSIGPAES
HPHTPQMPPS TPSSSFLTTL KPRLKTEPEE VSIEDSAQSD LKEVMVLNAT ESFVYEPKEQ
KKMFHATVAT ENEVFRVKVF NIDLKEKFTP KKIIAIANYV CRNGFLEVYP FTLVADVNAD
RNMEIPKGLI RSASVTPKIN QLCSQTKGSF VNGVFEVHKK NVRGEFTYYE IQDNTGKMEV
VVHGRLTTIN CEEGDKLKLT CFELAPKSGN TGELRSVIHS HIKVIKTRKN KKDILNPDSS
METSPDFFF*
mutated AA sequence MGKKYKNIVL LKGLEVINDY HFRMVKSLLS NDLKLNLKMR EEYDKIQIAD LMEEKFRGDA
GLGKLIKIFE DIPTLEDLAE TLKKEKLKVK GPALSRKRKK EVDATSPAPS TSSTVKTEGA
EATPGAQKRK KSTKEKAGPK GSKVSEEQTQ PPSPAGAGMS TAMGRSPSPK TSLSAPPNSS
STENPKTVAK CQVTPRRNVL QKRPVIVKVL STTKPFEYET PEMEKKIMFH ATVATQTQFF
HVKVLNTSLK EKFNGKKIII ISDYLEYDSL LEVNEESTVS EAGPNQTFEV PNKIINRAKE
TLKIDILHKQ ASGNIVYGVF MLHKKTVNQK TTIYEIQDDR GKMDVVGTGQ CHNIPCEEGD
KLQLFCFRLR KKNQMSKLIS EMHSFIQIKK KTNPRNNDPK SMKLPQEQRQ LPNPSEASTT
FPESHLRTPQ MPPTTPSSSF FTKKSEDTIS KMNDFMRMQI LKEGSHFPGP FMTSIGPAES
HPHTPQMPPS TPSSSFLTTL KPRLKTEPEE VSIEDSAQSD LKEVMVLNAT ESFVYEPKEQ
KKMFHATVAT ENEVFRVKVF NIDLKEKFTP KKIIAIANYV CRNGFLEVYP FTLVADVNAD
RNMEIPKGLI RSASVTPKIN QLCSQTKGSF VNGVFEVHKK NVRGEFTYYE IQDNTGKMEV
VVHGRLTTIN CEEGDKLKLT CFELAPKSGN TGELRSVIHS HIKVIKTRKN KKDILNPDSS
METSPDFFF*
speed 0.68 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: 0.999999999999925 (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) chr1:159002389T>AN/A show variant in all transcripts   IGV
HGNC symbol IFI16
Ensembl transcript ID ENST00000368132
Genbank transcript ID N/A
UniProt peptide Q16666
alteration type single base exchange
alteration region CDS
DNA changes c.1237T>A
cDNA.1501T>A
g.32632T>A
AA changes Y413N Score: 142 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 413
frameshift no
known variant Reference ID: rs1057028
databasehomozygous (A/A)heterozygousallele carriers
1000G11059492054
ExAC---
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2780.046
-1.7260
(flanking)-0.0550
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased32637wt: 0.79 / mu: 0.88wt: TATCCTTCAGAGGCC
mu: AATCCTTCAGAGGCC		 TCCT|tcag
Donor gained326270.68mu: TCAGCTTCCAAATCC AGCT|tcca
distance from splice site 76
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      413MKLPQEQRQLPYPSEASTTFPESH
mutated  not conserved    413MKLPQEQRQLPNPSEASTT
Ptroglodytes  not conserved  ENSPTRG00000001518  413MKLPQEQSQLPNPSEASTT
Mmulatta  not conserved  ENSMMUG00000004490  413MKPPQEQSQLPNPSEAGKT
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
444444MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
451451MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
561561MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
561561CROSSLNKGlycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO-1).might get lost (downstream of altered splice site)
562761DOMAINHIN-200 2.might get lost (downstream of altered splice site)
571766REGIONInteraction with TP53 core domain.might get lost (downstream of altered splice site)
578585STRANDmight get lost (downstream of altered splice site)
589592STRANDmight get lost (downstream of altered splice site)
593596TURNmight get lost (downstream of altered splice site)
597605STRANDmight get lost (downstream of altered splice site)
598598MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
610615STRANDmight get lost (downstream of altered splice site)
614614MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
618620HELIXmight get lost (downstream of altered splice site)
621624TURNmight get lost (downstream of altered splice site)
627627MUTAGENK->A: Impairs DNA binding; when associated with A-663; A-667; A-670; A- 674; A-732; A-734 and A-759.might get lost (downstream of altered splice site)
629634STRANDmight get lost (downstream of altered splice site)
636638STRANDmight get lost (downstream of altered splice site)
641644STRANDmight get lost (downstream of altered splice site)
648652STRANDmight get lost (downstream of altered splice site)
655657STRANDmight get lost (downstream of altered splice site)
663663MUTAGENK->A: Impairs DNA binding; when associated with A-627; A-667; A-670; A- 674; A-732; A-734 and A-759.might get lost (downstream of altered splice site)
663670HELIXmight get lost (downstream of altered splice site)
667667MUTAGENR->A: Impairs DNA binding; when associated with A-627; A-663; A-670; A- 674; A-732; A-734 and A-759.might get lost (downstream of altered splice site)
670670MUTAGENS->A: Impairs DNA binding; when associated with A-627; A-663; A-667; A- 674; A-732; A-734 and A-759.might get lost (downstream of altered splice site)
674674MUTAGENK->A: Impairs DNA binding; when associated with A-627; A-663; A-667; A- 670; A-732; A-734 and A-759.might get lost (downstream of altered splice site)
675679HELIXmight get lost (downstream of altered splice site)
683683CONFLICTK -> R (in Ref. 4; AAM96005).might get lost (downstream of altered splice site)
685699STRANDmight get lost (downstream of altered splice site)
702709STRANDmight get lost (downstream of altered splice site)
712718STRANDmight get lost (downstream of altered splice site)
720724HELIXmight get lost (downstream of altered splice site)
723723CONFLICTT -> N (in Ref. 1; AAA58683 and 2; AAB32519).might get lost (downstream of altered splice site)
732732MUTAGENK->A: Impairs DNA binding; when associated with A-627; A-663; A-667; A- 670; A- 674; A-734 and A-759.might get lost (downstream of altered splice site)
732741STRANDmight get lost (downstream of altered splice site)
734734MUTAGENK->A: Impairs DNA binding; when associated with A-627; A-663; A-667; A- 670; A- 674; A-732 and A-759.might get lost (downstream of altered splice site)
737737CONFLICTC -> S (in Ref. 1; AAA58683 and 2; AAB32519).might get lost (downstream of altered splice site)
744747TURNmight get lost (downstream of altered splice site)
749761STRANDmight get lost (downstream of altered splice site)
759759MUTAGENK->A: Impairs DNA binding; when associated with A-627; A-663; A-667; A- 670; A- 674; A-732 and A-734.might get lost (downstream of altered splice site)
764766TURNmight get lost (downstream of altered splice site)
780780MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2190 / 2190
position (AA) of stopcodon in wt / mu AA sequence 730 / 730
position of stopcodon in wt / mu cDNA 2454 / 2454
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 265 / 265
chromosome 1
strand 1
last intron/exon boundary 2374
theoretical NMD boundary in CDS 2059
length of CDS 2190
coding sequence (CDS) position 1237
cDNA position
(for ins/del: last normal base / first normal base)		 1501
gDNA position
(for ins/del: last normal base / first normal base)		 32632
chromosomal position
(for ins/del: last normal base / first normal base)		 159002389
original gDNA sequence snippet AGGAACAGCGTCAGCTTCCATATCCTTCAGAGGCCAGCACA
altered gDNA sequence snippet AGGAACAGCGTCAGCTTCCAAATCCTTCAGAGGCCAGCACA
original cDNA sequence snippet AGGAACAGCGTCAGCTTCCATATCCTTCAGAGGCCAGCACA
altered cDNA sequence snippet AGGAACAGCGTCAGCTTCCAAATCCTTCAGAGGCCAGCACA
wildtype AA sequence MGKKYKNIVL LKGLEVINDY HFRMVKSLLS NDLKLNLKMR EEYDKIQIAD LMEEKFRGDA
GLGKLIKIFE DIPTLEDLAE TLKKEKLKVK GPALSRKRKK EVDATSPAPS TSSTVKTEGA
EATPGAQKRK KSTKEKAGPK GSKVSEEQTQ PPSPAGAGMS TAMGRSPSPK TSLSAPPNSS
STENPKTVAK CQVTPRRNVL QKRPVIVKVL STTKPFEYET PEMEKKIMFH ATVATQTQFF
HVKVLNTSLK EKFNGKKIII ISDYLEYDSL LEVNEESTVS EAGPNQTFEV PNKIINRAKE
TLKIDILHKQ ASGNIVYGVF MLHKKTVNQK TTIYEIQDDR GKMDVVGTGQ CHNIPCEEGD
KLQLFCFRLR KKNQMSKLIS EMHSFIQIKK KTNPRNNDPK SMKLPQEQRQ LPYPSEASTT
FPESHLRTPQ MPPTTPSSSF FTKKSEDTIS KMNDFMRMQI LKEGSHFPGP FMTSIGPAES
HPHTPQMPPS TPSSSFLTTL KPRLKTEPEE VSIEDSAQSD LKEVMVLNAT ESFVYEPKEQ
KKMFHATVAT ENEVFRVKVF NIDLKEKFTP KKIIAIANYV CRNGFLEVYP FTLVADVNAD
RNMEIPKGLI RSASVTPKIN QLCSQTKGSF VNGVFEVHKK NVRGEFTYYE IQDNTGKMEV
VVHGRLTTIN CEEGDKLKLT CFELAPKSGN TGELRSVIHS HIKVIKTRKN KKDILNPDSS
METSPDFFF*
mutated AA sequence MGKKYKNIVL LKGLEVINDY HFRMVKSLLS NDLKLNLKMR EEYDKIQIAD LMEEKFRGDA
GLGKLIKIFE DIPTLEDLAE TLKKEKLKVK GPALSRKRKK EVDATSPAPS TSSTVKTEGA
EATPGAQKRK KSTKEKAGPK GSKVSEEQTQ PPSPAGAGMS TAMGRSPSPK TSLSAPPNSS
STENPKTVAK CQVTPRRNVL QKRPVIVKVL STTKPFEYET PEMEKKIMFH ATVATQTQFF
HVKVLNTSLK EKFNGKKIII ISDYLEYDSL LEVNEESTVS EAGPNQTFEV PNKIINRAKE
TLKIDILHKQ ASGNIVYGVF MLHKKTVNQK TTIYEIQDDR GKMDVVGTGQ CHNIPCEEGD
KLQLFCFRLR KKNQMSKLIS EMHSFIQIKK KTNPRNNDPK SMKLPQEQRQ LPNPSEASTT
FPESHLRTPQ MPPTTPSSSF FTKKSEDTIS KMNDFMRMQI LKEGSHFPGP FMTSIGPAES
HPHTPQMPPS TPSSSFLTTL KPRLKTEPEE VSIEDSAQSD LKEVMVLNAT ESFVYEPKEQ
KKMFHATVAT ENEVFRVKVF NIDLKEKFTP KKIIAIANYV CRNGFLEVYP FTLVADVNAD
RNMEIPKGLI RSASVTPKIN QLCSQTKGSF VNGVFEVHKK NVRGEFTYYE IQDNTGKMEV
VVHGRLTTIN CEEGDKLKLT CFELAPKSGN TGELRSVIHS HIKVIKTRKN KKDILNPDSS
METSPDFFF*
speed 0.74 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: 0.999999999999925 (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) chr1:159002389T>AN/A show variant in all transcripts   IGV
HGNC symbol IFI16
Ensembl transcript ID ENST00000295809
Genbank transcript ID N/A
UniProt peptide Q16666
alteration type single base exchange
alteration region CDS
DNA changes c.1237T>A
cDNA.1492T>A
g.32632T>A
AA changes Y413N Score: 142 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 413
frameshift no
known variant Reference ID: rs1057028
databasehomozygous (A/A)heterozygousallele carriers
1000G11059492054
ExAC---
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2780.046
-1.7260
(flanking)-0.0550
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased32637wt: 0.79 / mu: 0.88wt: TATCCTTCAGAGGCC
mu: AATCCTTCAGAGGCC		 TCCT|tcag
Donor gained326270.68mu: TCAGCTTCCAAATCC AGCT|tcca
distance from splice site 76
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      413MKLPQEQRQLPYPSEASTTFPESH
mutated  not conserved    413MKLPQEQRQLPNPSEASTT
Ptroglodytes  not conserved  ENSPTRG00000001518  413MKLPQEQSQLPNPSEASTT
Mmulatta  not conserved  ENSMMUG00000004490  413MKPPQEQSQLPNPSEAGKT
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
444444MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
451451MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
561561MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
561561CROSSLNKGlycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO-1).might get lost (downstream of altered splice site)
562761DOMAINHIN-200 2.might get lost (downstream of altered splice site)
571766REGIONInteraction with TP53 core domain.might get lost (downstream of altered splice site)
578585STRANDmight get lost (downstream of altered splice site)
589592STRANDmight get lost (downstream of altered splice site)
593596TURNmight get lost (downstream of altered splice site)
597605STRANDmight get lost (downstream of altered splice site)
598598MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
610615STRANDmight get lost (downstream of altered splice site)
614614MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
618620HELIXmight get lost (downstream of altered splice site)
621624TURNmight get lost (downstream of altered splice site)
627627MUTAGENK->A: Impairs DNA binding; when associated with A-663; A-667; A-670; A- 674; A-732; A-734 and A-759.might get lost (downstream of altered splice site)
629634STRANDmight get lost (downstream of altered splice site)
636638STRANDmight get lost (downstream of altered splice site)
641644STRANDmight get lost (downstream of altered splice site)
648652STRANDmight get lost (downstream of altered splice site)
655657STRANDmight get lost (downstream of altered splice site)
663663MUTAGENK->A: Impairs DNA binding; when associated with A-627; A-667; A-670; A- 674; A-732; A-734 and A-759.might get lost (downstream of altered splice site)
663670HELIXmight get lost (downstream of altered splice site)
667667MUTAGENR->A: Impairs DNA binding; when associated with A-627; A-663; A-670; A- 674; A-732; A-734 and A-759.might get lost (downstream of altered splice site)
670670MUTAGENS->A: Impairs DNA binding; when associated with A-627; A-663; A-667; A- 674; A-732; A-734 and A-759.might get lost (downstream of altered splice site)
674674MUTAGENK->A: Impairs DNA binding; when associated with A-627; A-663; A-667; A- 670; A-732; A-734 and A-759.might get lost (downstream of altered splice site)
675679HELIXmight get lost (downstream of altered splice site)
683683CONFLICTK -> R (in Ref. 4; AAM96005).might get lost (downstream of altered splice site)
685699STRANDmight get lost (downstream of altered splice site)
702709STRANDmight get lost (downstream of altered splice site)
712718STRANDmight get lost (downstream of altered splice site)
720724HELIXmight get lost (downstream of altered splice site)
723723CONFLICTT -> N (in Ref. 1; AAA58683 and 2; AAB32519).might get lost (downstream of altered splice site)
732732MUTAGENK->A: Impairs DNA binding; when associated with A-627; A-663; A-667; A- 670; A- 674; A-734 and A-759.might get lost (downstream of altered splice site)
732741STRANDmight get lost (downstream of altered splice site)
734734MUTAGENK->A: Impairs DNA binding; when associated with A-627; A-663; A-667; A- 670; A- 674; A-732 and A-759.might get lost (downstream of altered splice site)
737737CONFLICTC -> S (in Ref. 1; AAA58683 and 2; AAB32519).might get lost (downstream of altered splice site)
744747TURNmight get lost (downstream of altered splice site)
749761STRANDmight get lost (downstream of altered splice site)
759759MUTAGENK->A: Impairs DNA binding; when associated with A-627; A-663; A-667; A- 670; A- 674; A-732 and A-734.might get lost (downstream of altered splice site)
764766TURNmight get lost (downstream of altered splice site)
780780MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2358 / 2358
position (AA) of stopcodon in wt / mu AA sequence 786 / 786
position of stopcodon in wt / mu cDNA 2613 / 2613
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 256 / 256
chromosome 1
strand 1
last intron/exon boundary 2533
theoretical NMD boundary in CDS 2227
length of CDS 2358
coding sequence (CDS) position 1237
cDNA position
(for ins/del: last normal base / first normal base)		 1492
gDNA position
(for ins/del: last normal base / first normal base)		 32632
chromosomal position
(for ins/del: last normal base / first normal base)		 159002389
original gDNA sequence snippet AGGAACAGCGTCAGCTTCCATATCCTTCAGAGGCCAGCACA
altered gDNA sequence snippet AGGAACAGCGTCAGCTTCCAAATCCTTCAGAGGCCAGCACA
original cDNA sequence snippet AGGAACAGCGTCAGCTTCCATATCCTTCAGAGGCCAGCACA
altered cDNA sequence snippet AGGAACAGCGTCAGCTTCCAAATCCTTCAGAGGCCAGCACA
wildtype AA sequence MGKKYKNIVL LKGLEVINDY HFRMVKSLLS NDLKLNLKMR EEYDKIQIAD LMEEKFRGDA
GLGKLIKIFE DIPTLEDLAE TLKKEKLKVK GPALSRKRKK EVDATSPAPS TSSTVKTEGA
EATPGAQKRK KSTKEKAGPK GSKVSEEQTQ PPSPAGAGMS TAMGRSPSPK TSLSAPPNSS
STENPKTVAK CQVTPRRNVL QKRPVIVKVL STTKPFEYET PEMEKKIMFH ATVATQTQFF
HVKVLNTSLK EKFNGKKIII ISDYLEYDSL LEVNEESTVS EAGPNQTFEV PNKIINRAKE
TLKIDILHKQ ASGNIVYGVF MLHKKTVNQK TTIYEIQDDR GKMDVVGTGQ CHNIPCEEGD
KLQLFCFRLR KKNQMSKLIS EMHSFIQIKK KTNPRNNDPK SMKLPQEQRQ LPYPSEASTT
FPESHLRTPQ MPPTTPSSSF FTKKSEDTIS KMNDFMRMQI LKEGSHFPGP FMTSIGPAES
HPHTPQMPPS TPSSSFLTTK SEDTISKMND FMRMQILKEG SHFPGPFMTS IGPAESHPHT
PQMPPSTPSS SFLTTLKPRL KTEPEEVSIE DSAQSDLKEV MVLNATESFV YEPKEQKKMF
HATVATENEV FRVKVFNIDL KEKFTPKKII AIANYVCRNG FLEVYPFTLV ADVNADRNME
IPKGLIRSAS VTPKINQLCS QTKGSFVNGV FEVHKKNVRG EFTYYEIQDN TGKMEVVVHG
RLTTINCEEG DKLKLTCFEL APKSGNTGEL RSVIHSHIKV IKTRKNKKDI LNPDSSMETS
PDFFF*
mutated AA sequence MGKKYKNIVL LKGLEVINDY HFRMVKSLLS NDLKLNLKMR EEYDKIQIAD LMEEKFRGDA
GLGKLIKIFE DIPTLEDLAE TLKKEKLKVK GPALSRKRKK EVDATSPAPS TSSTVKTEGA
EATPGAQKRK KSTKEKAGPK GSKVSEEQTQ PPSPAGAGMS TAMGRSPSPK TSLSAPPNSS
STENPKTVAK CQVTPRRNVL QKRPVIVKVL STTKPFEYET PEMEKKIMFH ATVATQTQFF
HVKVLNTSLK EKFNGKKIII ISDYLEYDSL LEVNEESTVS EAGPNQTFEV PNKIINRAKE
TLKIDILHKQ ASGNIVYGVF MLHKKTVNQK TTIYEIQDDR GKMDVVGTGQ CHNIPCEEGD
KLQLFCFRLR KKNQMSKLIS EMHSFIQIKK KTNPRNNDPK SMKLPQEQRQ LPNPSEASTT
FPESHLRTPQ MPPTTPSSSF FTKKSEDTIS KMNDFMRMQI LKEGSHFPGP FMTSIGPAES
HPHTPQMPPS TPSSSFLTTK SEDTISKMND FMRMQILKEG SHFPGPFMTS IGPAESHPHT
PQMPPSTPSS SFLTTLKPRL KTEPEEVSIE DSAQSDLKEV MVLNATESFV YEPKEQKKMF
HATVATENEV FRVKVFNIDL KEKFTPKKII AIANYVCRNG FLEVYPFTLV ADVNADRNME
IPKGLIRSAS VTPKINQLCS QTKGSFVNGV FEVHKKNVRG EFTYYEIQDN TGKMEVVVHG
RLTTINCEEG DKLKLTCFEL APKSGNTGEL RSVIHSHIKV IKTRKNKKDI LNPDSSMETS
PDFFF*
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: 0.999999999999925 (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) chr1:159002389T>AN/A show variant in all transcripts   IGV
HGNC symbol IFI16
Ensembl transcript ID ENST00000448393
Genbank transcript ID N/A
UniProt peptide Q16666
alteration type single base exchange
alteration region CDS
DNA changes c.1237T>A
cDNA.1237T>A
g.32632T>A
AA changes Y413N Score: 142 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 413
frameshift no
known variant Reference ID: rs1057028
databasehomozygous (A/A)heterozygousallele carriers
1000G11059492054
ExAC---
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2780.046
-1.7260
(flanking)-0.0550
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased32637wt: 0.79 / mu: 0.88wt: TATCCTTCAGAGGCC
mu: AATCCTTCAGAGGCC		 TCCT|tcag
Donor gained326270.68mu: TCAGCTTCCAAATCC AGCT|tcca
distance from splice site 76
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      413MKLPQEQRQLPYPSEASTTFPESH
mutated  not conserved    413MKLPQEQRQLPNPSEASTT
Ptroglodytes  not conserved  ENSPTRG00000001518  413MKLPQEQSQLPNPSEASTT
Mmulatta  not conserved  ENSMMUG00000004490  413MKPPQEQSQLPNPSEAGKT
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
444444MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
451451MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
561561MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
561561CROSSLNKGlycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO-1).might get lost (downstream of altered splice site)
562761DOMAINHIN-200 2.might get lost (downstream of altered splice site)
571766REGIONInteraction with TP53 core domain.might get lost (downstream of altered splice site)
578585STRANDmight get lost (downstream of altered splice site)
589592STRANDmight get lost (downstream of altered splice site)
593596TURNmight get lost (downstream of altered splice site)
597605STRANDmight get lost (downstream of altered splice site)
598598MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
610615STRANDmight get lost (downstream of altered splice site)
614614MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
618620HELIXmight get lost (downstream of altered splice site)
621624TURNmight get lost (downstream of altered splice site)
627627MUTAGENK->A: Impairs DNA binding; when associated with A-663; A-667; A-670; A- 674; A-732; A-734 and A-759.might get lost (downstream of altered splice site)
629634STRANDmight get lost (downstream of altered splice site)
636638STRANDmight get lost (downstream of altered splice site)
641644STRANDmight get lost (downstream of altered splice site)
648652STRANDmight get lost (downstream of altered splice site)
655657STRANDmight get lost (downstream of altered splice site)
663663MUTAGENK->A: Impairs DNA binding; when associated with A-627; A-667; A-670; A- 674; A-732; A-734 and A-759.might get lost (downstream of altered splice site)
663670HELIXmight get lost (downstream of altered splice site)
667667MUTAGENR->A: Impairs DNA binding; when associated with A-627; A-663; A-670; A- 674; A-732; A-734 and A-759.might get lost (downstream of altered splice site)
670670MUTAGENS->A: Impairs DNA binding; when associated with A-627; A-663; A-667; A- 674; A-732; A-734 and A-759.might get lost (downstream of altered splice site)
674674MUTAGENK->A: Impairs DNA binding; when associated with A-627; A-663; A-667; A- 670; A-732; A-734 and A-759.might get lost (downstream of altered splice site)
675679HELIXmight get lost (downstream of altered splice site)
683683CONFLICTK -> R (in Ref. 4; AAM96005).might get lost (downstream of altered splice site)
685699STRANDmight get lost (downstream of altered splice site)
702709STRANDmight get lost (downstream of altered splice site)
712718STRANDmight get lost (downstream of altered splice site)
720724HELIXmight get lost (downstream of altered splice site)
723723CONFLICTT -> N (in Ref. 1; AAA58683 and 2; AAB32519).might get lost (downstream of altered splice site)
732732MUTAGENK->A: Impairs DNA binding; when associated with A-627; A-663; A-667; A- 670; A- 674; A-734 and A-759.might get lost (downstream of altered splice site)
732741STRANDmight get lost (downstream of altered splice site)
734734MUTAGENK->A: Impairs DNA binding; when associated with A-627; A-663; A-667; A- 670; A- 674; A-732 and A-759.might get lost (downstream of altered splice site)
737737CONFLICTC -> S (in Ref. 1; AAA58683 and 2; AAB32519).might get lost (downstream of altered splice site)
744747TURNmight get lost (downstream of altered splice site)
749761STRANDmight get lost (downstream of altered splice site)
759759MUTAGENK->A: Impairs DNA binding; when associated with A-627; A-663; A-667; A- 670; A- 674; A-732 and A-734.might get lost (downstream of altered splice site)
764766TURNmight get lost (downstream of altered splice site)
780780MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2022 / 2022
position (AA) of stopcodon in wt / mu AA sequence 674 / 674
position of stopcodon in wt / mu cDNA 2022 / 2022
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 1 / 1
chromosome 1
strand 1
last intron/exon boundary 1942
theoretical NMD boundary in CDS 1891
length of CDS 2022
coding sequence (CDS) position 1237
cDNA position
(for ins/del: last normal base / first normal base)		 1237
gDNA position
(for ins/del: last normal base / first normal base)		 32632
chromosomal position
(for ins/del: last normal base / first normal base)		 159002389
original gDNA sequence snippet AGGAACAGCGTCAGCTTCCATATCCTTCAGAGGCCAGCACA
altered gDNA sequence snippet AGGAACAGCGTCAGCTTCCAAATCCTTCAGAGGCCAGCACA
original cDNA sequence snippet AGGAACAGCGTCAGCTTCCATATCCTTCAGAGGCCAGCACA
altered cDNA sequence snippet AGGAACAGCGTCAGCTTCCAAATCCTTCAGAGGCCAGCACA
wildtype AA sequence MGKKYKNIVL LKGLEVINDY HFRMVKSLLS NDLKLNLKMR EEYDKIQIAD LMEEKFRGDA
GLGKLIKIFE DIPTLEDLAE TLKKEKLKVK GPALSRKRKK EVDATSPAPS TSSTVKTEGA
EATPGAQKRK KSTKEKAGPK GSKVSEEQTQ PPSPAGAGMS TAMGRSPSPK TSLSAPPNSS
STENPKTVAK CQVTPRRNVL QKRPVIVKVL STTKPFEYET PEMEKKIMFH ATVATQTQFF
HVKVLNTSLK EKFNGKKIII ISDYLEYDSL LEVNEESTVS EAGPNQTFEV PNKIINRAKE
TLKIDILHKQ ASGNIVYGVF MLHKKTVNQK TTIYEIQDDR GKMDVVGTGQ CHNIPCEEGD
KLQLFCFRLR KKNQMSKLIS EMHSFIQIKK KTNPRNNDPK SMKLPQEQRQ LPYPSEASTT
FPESHLRTPQ MPPTTPSSSF FTKLKPRLKT EPEEVSIEDS AQSDLKEVMV LNATESFVYE
PKEQKKMFHA TVATENEVFR VKVFNIDLKE KFTPKKIIAI ANYVCRNGFL EVYPFTLVAD
VNADRNMEIP KGLIRSASVT PKINQLCSQT KGSFVNGVFE VHKKNVRGEF TYYEIQDNTG
KMEVVVHGRL TTINCEEGDK LKLTCFELAP KSGNTGELRS VIHSHIKVIK TRKNKKDILN
PDSSMETSPD FFF*
mutated AA sequence MGKKYKNIVL LKGLEVINDY HFRMVKSLLS NDLKLNLKMR EEYDKIQIAD LMEEKFRGDA
GLGKLIKIFE DIPTLEDLAE TLKKEKLKVK GPALSRKRKK EVDATSPAPS TSSTVKTEGA
EATPGAQKRK KSTKEKAGPK GSKVSEEQTQ PPSPAGAGMS TAMGRSPSPK TSLSAPPNSS
STENPKTVAK CQVTPRRNVL QKRPVIVKVL STTKPFEYET PEMEKKIMFH ATVATQTQFF
HVKVLNTSLK EKFNGKKIII ISDYLEYDSL LEVNEESTVS EAGPNQTFEV PNKIINRAKE
TLKIDILHKQ ASGNIVYGVF MLHKKTVNQK TTIYEIQDDR GKMDVVGTGQ CHNIPCEEGD
KLQLFCFRLR KKNQMSKLIS EMHSFIQIKK KTNPRNNDPK SMKLPQEQRQ LPNPSEASTT
FPESHLRTPQ MPPTTPSSSF FTKLKPRLKT EPEEVSIEDS AQSDLKEVMV LNATESFVYE
PKEQKKMFHA TVATENEVFR VKVFNIDLKE KFTPKKIIAI ANYVCRNGFL EVYPFTLVAD
VNADRNMEIP KGLIRSASVT PKINQLCSQT KGSFVNGVFE VHKKNVRGEF TYYEIQDNTG
KMEVVVHGRL TTINCEEGDK LKLTCFELAP KSGNTGELRS VIHSHIKVIK TRKNKKDILN
PDSSMETSPD FFF*
speed 1.00 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: 0.999999999999925 (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) chr1:159002389T>AN/A show variant in all transcripts   IGV
HGNC symbol IFI16
Ensembl transcript ID ENST00000340979
Genbank transcript ID N/A
UniProt peptide Q16666
alteration type single base exchange
alteration region CDS
DNA changes c.1237T>A
cDNA.1527T>A
g.32632T>A
AA changes Y413N Score: 142 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 413
frameshift no
known variant Reference ID: rs1057028
databasehomozygous (A/A)heterozygousallele carriers
1000G11059492054
ExAC---
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2780.046
-1.7260
(flanking)-0.0550
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased32637wt: 0.79 / mu: 0.88wt: TATCCTTCAGAGGCC
mu: AATCCTTCAGAGGCC		 TCCT|tcag
Donor gained326270.68mu: TCAGCTTCCAAATCC AGCT|tcca
distance from splice site 76
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      413MKLPQEQRQLPYPSEASTTFPESH
mutated  not conserved    413MKLPQEQRQLPNPSEASTT
Ptroglodytes  not conserved  ENSPTRG00000001518  413MKLPQEQSQLPNPSEASTT
Mmulatta  not conserved  ENSMMUG00000004490  413MKPPQEQSQLPNPSEAGKT
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
444444MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
451451MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
561561MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
561561CROSSLNKGlycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO-1).might get lost (downstream of altered splice site)
562761DOMAINHIN-200 2.might get lost (downstream of altered splice site)
571766REGIONInteraction with TP53 core domain.might get lost (downstream of altered splice site)
578585STRANDmight get lost (downstream of altered splice site)
589592STRANDmight get lost (downstream of altered splice site)
593596TURNmight get lost (downstream of altered splice site)
597605STRANDmight get lost (downstream of altered splice site)
598598MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
610615STRANDmight get lost (downstream of altered splice site)
614614MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
618620HELIXmight get lost (downstream of altered splice site)
621624TURNmight get lost (downstream of altered splice site)
627627MUTAGENK->A: Impairs DNA binding; when associated with A-663; A-667; A-670; A- 674; A-732; A-734 and A-759.might get lost (downstream of altered splice site)
629634STRANDmight get lost (downstream of altered splice site)
636638STRANDmight get lost (downstream of altered splice site)
641644STRANDmight get lost (downstream of altered splice site)
648652STRANDmight get lost (downstream of altered splice site)
655657STRANDmight get lost (downstream of altered splice site)
663663MUTAGENK->A: Impairs DNA binding; when associated with A-627; A-667; A-670; A- 674; A-732; A-734 and A-759.might get lost (downstream of altered splice site)
663670HELIXmight get lost (downstream of altered splice site)
667667MUTAGENR->A: Impairs DNA binding; when associated with A-627; A-663; A-670; A- 674; A-732; A-734 and A-759.might get lost (downstream of altered splice site)
670670MUTAGENS->A: Impairs DNA binding; when associated with A-627; A-663; A-667; A- 674; A-732; A-734 and A-759.might get lost (downstream of altered splice site)
674674MUTAGENK->A: Impairs DNA binding; when associated with A-627; A-663; A-667; A- 670; A-732; A-734 and A-759.might get lost (downstream of altered splice site)
675679HELIXmight get lost (downstream of altered splice site)
683683CONFLICTK -> R (in Ref. 4; AAM96005).might get lost (downstream of altered splice site)
685699STRANDmight get lost (downstream of altered splice site)
702709STRANDmight get lost (downstream of altered splice site)
712718STRANDmight get lost (downstream of altered splice site)
720724HELIXmight get lost (downstream of altered splice site)
723723CONFLICTT -> N (in Ref. 1; AAA58683 and 2; AAB32519).might get lost (downstream of altered splice site)
732732MUTAGENK->A: Impairs DNA binding; when associated with A-627; A-663; A-667; A- 670; A- 674; A-734 and A-759.might get lost (downstream of altered splice site)
732741STRANDmight get lost (downstream of altered splice site)
734734MUTAGENK->A: Impairs DNA binding; when associated with A-627; A-663; A-667; A- 670; A- 674; A-732 and A-759.might get lost (downstream of altered splice site)
737737CONFLICTC -> S (in Ref. 1; AAA58683 and 2; AAB32519).might get lost (downstream of altered splice site)
744747TURNmight get lost (downstream of altered splice site)
749761STRANDmight get lost (downstream of altered splice site)
759759MUTAGENK->A: Impairs DNA binding; when associated with A-627; A-663; A-667; A- 670; A- 674; A-732 and A-734.might get lost (downstream of altered splice site)
764766TURNmight get lost (downstream of altered splice site)
780780MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2022 / 2022
position (AA) of stopcodon in wt / mu AA sequence 674 / 674
position of stopcodon in wt / mu cDNA 2312 / 2312
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 291 / 291
chromosome 1
strand 1
last intron/exon boundary 2232
theoretical NMD boundary in CDS 1891
length of CDS 2022
coding sequence (CDS) position 1237
cDNA position
(for ins/del: last normal base / first normal base)		 1527
gDNA position
(for ins/del: last normal base / first normal base)		 32632
chromosomal position
(for ins/del: last normal base / first normal base)		 159002389
original gDNA sequence snippet AGGAACAGCGTCAGCTTCCATATCCTTCAGAGGCCAGCACA
altered gDNA sequence snippet AGGAACAGCGTCAGCTTCCAAATCCTTCAGAGGCCAGCACA
original cDNA sequence snippet AGGAACAGCGTCAGCTTCCATATCCTTCAGAGGCCAGCACA
altered cDNA sequence snippet AGGAACAGCGTCAGCTTCCAAATCCTTCAGAGGCCAGCACA
wildtype AA sequence MGKKYKNIVL LKGLEVINDY HFRMVKSLLS NDLKLNLKMR EEYDKIQIAD LMEEKFRGDA
GLGKLIKIFE DIPTLEDLAE TLKKEKLKVK GPALSRKRKK EVDATSPAPS TSSTVKTEGA
EATPGAQKRK KSTKEKAGPK GSKVSEEQTQ PPSPAGAGMS TAMGRSPSPK TSLSAPPNSS
STENPKTVAK CQVTPRRNVL QKRPVIVKVL STTKPFEYET PEMEKKIMFH ATVATQTQFF
HVKVLNTSLK EKFNGKKIII ISDYLEYDSL LEVNEESTVS EAGPNQTFEV PNKIINRAKE
TLKIDILHKQ ASGNIVYGVF MLHKKTVNQK TTIYEIQDDR GKMDVVGTGQ CHNIPCEEGD
KLQLFCFRLR KKNQMSKLIS EMHSFIQIKK KTNPRNNDPK SMKLPQEQRQ LPYPSEASTT
FPESHLRTPQ MPPTTPSSSF FTKLKPRLKT EPEEVSIEDS AQSDLKEVMV LNATESFVYE
PKEQKKMFHA TVATENEVFR VKVFNIDLKE KFTPKKIIAI ANYVCRNGFL EVYPFTLVAD
VNADRNMEIP KGLIRSASVT PKINQLCSQT KGSFVNGVFE VHKKNVRGEF TYYEIQDNTG
KMEVVVHGRL TTINCEEGDK LKLTCFELAP KSGNTGELRS VIHSHIKVIK TRKNKKDILN
PDSSMETSPD FFF*
mutated AA sequence MGKKYKNIVL LKGLEVINDY HFRMVKSLLS NDLKLNLKMR EEYDKIQIAD LMEEKFRGDA
GLGKLIKIFE DIPTLEDLAE TLKKEKLKVK GPALSRKRKK EVDATSPAPS TSSTVKTEGA
EATPGAQKRK KSTKEKAGPK GSKVSEEQTQ PPSPAGAGMS TAMGRSPSPK TSLSAPPNSS
STENPKTVAK CQVTPRRNVL QKRPVIVKVL STTKPFEYET PEMEKKIMFH ATVATQTQFF
HVKVLNTSLK EKFNGKKIII ISDYLEYDSL LEVNEESTVS EAGPNQTFEV PNKIINRAKE
TLKIDILHKQ ASGNIVYGVF MLHKKTVNQK TTIYEIQDDR GKMDVVGTGQ CHNIPCEEGD
KLQLFCFRLR KKNQMSKLIS EMHSFIQIKK KTNPRNNDPK SMKLPQEQRQ LPNPSEASTT
FPESHLRTPQ MPPTTPSSSF FTKLKPRLKT EPEEVSIEDS AQSDLKEVMV LNATESFVYE
PKEQKKMFHA TVATENEVFR VKVFNIDLKE KFTPKKIIAI ANYVCRNGFL EVYPFTLVAD
VNADRNMEIP KGLIRSASVT PKINQLCSQT KGSFVNGVFE VHKKNVRGEF TYYEIQDNTG
KMEVVVHGRL TTINCEEGDK LKLTCFELAP KSGNTGELRS VIHSHIKVIK TRKNKKDILN
PDSSMETSPD FFF*
speed 1.16 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: 0.999999999999837 (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) chr1:159002389T>AN/A show variant in all transcripts   IGV
HGNC symbol IFI16
Ensembl transcript ID ENST00000359709
Genbank transcript ID NM_001206567
UniProt peptide Q16666
alteration type single base exchange
alteration region CDS
DNA changes c.1069T>A
cDNA.1241T>A
g.32632T>A
AA changes Y357N Score: 142 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 357
frameshift no
known variant Reference ID: rs1057028
databasehomozygous (A/A)heterozygousallele carriers
1000G11059492054
ExAC---
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2780.046
-1.7260
(flanking)-0.0550
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased32637wt: 0.79 / mu: 0.88wt: TATCCTTCAGAGGCC
mu: AATCCTTCAGAGGCC		 TCCT|tcag
Donor gained326270.68mu: TCAGCTTCCAAATCC AGCT|tcca
distance from splice site 76
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      357MKLPQEQRQLPYPSEASTTFPESH
mutated  not conserved    357MKLPQEQRQLPNPSE
Ptroglodytes  not conserved  ENSPTRG00000001518  413MKLPQEQSQLPNPSEASTT
Mmulatta  not conserved  ENSMMUG00000004490  413MKPPQEQSQLPNPSEAGKT
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
189389DOMAINHIN-200 1.lost
192393REGIONInteraction with TP53 C-terminus.lost
361372STRANDmight get lost (downstream of altered splice site)
375379STRANDmight get lost (downstream of altered splice site)
385388STRANDmight get lost (downstream of altered splice site)
444444MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
451451MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
561561MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
561561CROSSLNKGlycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO-1).might get lost (downstream of altered splice site)
562761DOMAINHIN-200 2.might get lost (downstream of altered splice site)
571766REGIONInteraction with TP53 core domain.might get lost (downstream of altered splice site)
578585STRANDmight get lost (downstream of altered splice site)
589592STRANDmight get lost (downstream of altered splice site)
593596TURNmight get lost (downstream of altered splice site)
597605STRANDmight get lost (downstream of altered splice site)
598598MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
610615STRANDmight get lost (downstream of altered splice site)
614614MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
618620HELIXmight get lost (downstream of altered splice site)
621624TURNmight get lost (downstream of altered splice site)
627627MUTAGENK->A: Impairs DNA binding; when associated with A-663; A-667; A-670; A- 674; A-732; A-734 and A-759.might get lost (downstream of altered splice site)
629634STRANDmight get lost (downstream of altered splice site)
636638STRANDmight get lost (downstream of altered splice site)
641644STRANDmight get lost (downstream of altered splice site)
648652STRANDmight get lost (downstream of altered splice site)
655657STRANDmight get lost (downstream of altered splice site)
663663MUTAGENK->A: Impairs DNA binding; when associated with A-627; A-667; A-670; A- 674; A-732; A-734 and A-759.might get lost (downstream of altered splice site)
663670HELIXmight get lost (downstream of altered splice site)
667667MUTAGENR->A: Impairs DNA binding; when associated with A-627; A-663; A-670; A- 674; A-732; A-734 and A-759.might get lost (downstream of altered splice site)
670670MUTAGENS->A: Impairs DNA binding; when associated with A-627; A-663; A-667; A- 674; A-732; A-734 and A-759.might get lost (downstream of altered splice site)
674674MUTAGENK->A: Impairs DNA binding; when associated with A-627; A-663; A-667; A- 670; A-732; A-734 and A-759.might get lost (downstream of altered splice site)
675679HELIXmight get lost (downstream of altered splice site)
683683CONFLICTK -> R (in Ref. 4; AAM96005).might get lost (downstream of altered splice site)
685699STRANDmight get lost (downstream of altered splice site)
702709STRANDmight get lost (downstream of altered splice site)
712718STRANDmight get lost (downstream of altered splice site)
720724HELIXmight get lost (downstream of altered splice site)
723723CONFLICTT -> N (in Ref. 1; AAA58683 and 2; AAB32519).might get lost (downstream of altered splice site)
732732MUTAGENK->A: Impairs DNA binding; when associated with A-627; A-663; A-667; A- 670; A- 674; A-734 and A-759.might get lost (downstream of altered splice site)
732741STRANDmight get lost (downstream of altered splice site)
734734MUTAGENK->A: Impairs DNA binding; when associated with A-627; A-663; A-667; A- 670; A- 674; A-732 and A-759.might get lost (downstream of altered splice site)
737737CONFLICTC -> S (in Ref. 1; AAA58683 and 2; AAB32519).might get lost (downstream of altered splice site)
744747TURNmight get lost (downstream of altered splice site)
749761STRANDmight get lost (downstream of altered splice site)
759759MUTAGENK->A: Impairs DNA binding; when associated with A-627; A-663; A-667; A- 670; A- 674; A-732 and A-734.might get lost (downstream of altered splice site)
764766TURNmight get lost (downstream of altered splice site)
780780MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2190 / 2190
position (AA) of stopcodon in wt / mu AA sequence 730 / 730
position of stopcodon in wt / mu cDNA 2362 / 2362
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 173 / 173
chromosome 1
strand 1
last intron/exon boundary 2282
theoretical NMD boundary in CDS 2059
length of CDS 2190
coding sequence (CDS) position 1069
cDNA position
(for ins/del: last normal base / first normal base)		 1241
gDNA position
(for ins/del: last normal base / first normal base)		 32632
chromosomal position
(for ins/del: last normal base / first normal base)		 159002389
original gDNA sequence snippet AGGAACAGCGTCAGCTTCCATATCCTTCAGAGGCCAGCACA
altered gDNA sequence snippet AGGAACAGCGTCAGCTTCCAAATCCTTCAGAGGCCAGCACA
original cDNA sequence snippet AGGAACAGCGTCAGCTTCCATATCCTTCAGAGGCCAGCACA
altered cDNA sequence snippet AGGAACAGCGTCAGCTTCCAAATCCTTCAGAGGCCAGCACA
wildtype AA sequence MGKKYKNIVL LKGLEVINDY HFRMVKSLLS NDLKLNLKMR EEYDKIQIAD LMEEKFRGDA
GLGKLIKIFE DIPTLEDLAE TLKKEKLKVK GPALSRKRKK EVDATSPAPS TSSTVKTEGA
EATPGAQNPK TVAKCQVTPR RNVLQKRPVI VKVLSTTKPF EYETPEMEKK IMFHATVATQ
TQFFHVKVLN TSLKEKFNGK KIIIISDYLE YDSLLEVNEE STVSEAGPNQ TFEVPNKIIN
RAKETLKIDI LHKQASGNIV YGVFMLHKKT VNQKTTIYEI QDDRGKMDVV GTGQCHNIPC
EEGDKLQLFC FRLRKKNQMS KLISEMHSFI QIKKKTNPRN NDPKSMKLPQ EQRQLPYPSE
ASTTFPESHL RTPQMPPTTP SSSFFTKKSE DTISKMNDFM RMQILKEGSH FPGPFMTSIG
PAESHPHTPQ MPPSTPSSSF LTTKSEDTIS KMNDFMRMQI LKEGSHFPGP FMTSIGPAES
HPHTPQMPPS TPSSSFLTTL KPRLKTEPEE VSIEDSAQSD LKEVMVLNAT ESFVYEPKEQ
KKMFHATVAT ENEVFRVKVF NIDLKEKFTP KKIIAIANYV CRNGFLEVYP FTLVADVNAD
RNMEIPKGLI RSASVTPKIN QLCSQTKGSF VNGVFEVHKK NVRGEFTYYE IQDNTGKMEV
VVHGRLTTIN CEEGDKLKLT CFELAPKSGN TGELRSVIHS HIKVIKTRKN KKDILNPDSS
METSPDFFF*
mutated AA sequence MGKKYKNIVL LKGLEVINDY HFRMVKSLLS NDLKLNLKMR EEYDKIQIAD LMEEKFRGDA
GLGKLIKIFE DIPTLEDLAE TLKKEKLKVK GPALSRKRKK EVDATSPAPS TSSTVKTEGA
EATPGAQNPK TVAKCQVTPR RNVLQKRPVI VKVLSTTKPF EYETPEMEKK IMFHATVATQ
TQFFHVKVLN TSLKEKFNGK KIIIISDYLE YDSLLEVNEE STVSEAGPNQ TFEVPNKIIN
RAKETLKIDI LHKQASGNIV YGVFMLHKKT VNQKTTIYEI QDDRGKMDVV GTGQCHNIPC
EEGDKLQLFC FRLRKKNQMS KLISEMHSFI QIKKKTNPRN NDPKSMKLPQ EQRQLPNPSE
ASTTFPESHL RTPQMPPTTP SSSFFTKKSE DTISKMNDFM RMQILKEGSH FPGPFMTSIG
PAESHPHTPQ MPPSTPSSSF LTTKSEDTIS KMNDFMRMQI LKEGSHFPGP FMTSIGPAES
HPHTPQMPPS TPSSSFLTTL KPRLKTEPEE VSIEDSAQSD LKEVMVLNAT ESFVYEPKEQ
KKMFHATVAT ENEVFRVKVF NIDLKEKFTP KKIIAIANYV CRNGFLEVYP FTLVADVNAD
RNMEIPKGLI RSASVTPKIN QLCSQTKGSF VNGVFEVHKK NVRGEFTYYE IQDNTGKMEV
VVHGRLTTIN CEEGDKLKLT CFELAPKSGN TGELRSVIHS HIKVIKTRKN KKDILNPDSS
METSPDFFF*
speed 1.31 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: 0.999999999999261 (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) chr1:159002389T>AN/A show variant in all transcripts   IGV
HGNC symbol IFI16
Ensembl transcript ID ENST00000430894
Genbank transcript ID NM_001206567
UniProt peptide Q16666
alteration type single base exchange
alteration region CDS
DNA changes c.1081T>A
cDNA.1241T>A
g.32632T>A
AA changes Y361N Score: 142 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 361
frameshift no
known variant Reference ID: rs1057028
databasehomozygous (A/A)heterozygousallele carriers
1000G11059492054
ExAC---
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2780.046
-1.7260
(flanking)-0.0550
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased32637wt: 0.79 / mu: 0.88wt: TATCCTTCAGAGGCC
mu: AATCCTTCAGAGGCC		 TCCT|tcag
Donor gained326270.68mu: TCAGCTTCCAAATCC AGCT|tcca
distance from splice site 76
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      361MKLPQEQRQLPYPSEASTTFPESH
mutated  not conserved    361NPSEASTTFPES
Ptroglodytes  not conserved  ENSPTRG00000001518  413MKLPQEQSQLPNPSEASTT
Mmulatta  not conserved  ENSMMUG00000004490  413MKPPQEQSQLPNPSEAGKT
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
189389DOMAINHIN-200 1.lost
192393REGIONInteraction with TP53 C-terminus.lost
361372STRANDlost
375379STRANDmight get lost (downstream of altered splice site)
385388STRANDmight get lost (downstream of altered splice site)
444444MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
451451MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
561561MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
561561CROSSLNKGlycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO-1).might get lost (downstream of altered splice site)
562761DOMAINHIN-200 2.might get lost (downstream of altered splice site)
571766REGIONInteraction with TP53 core domain.might get lost (downstream of altered splice site)
578585STRANDmight get lost (downstream of altered splice site)
589592STRANDmight get lost (downstream of altered splice site)
593596TURNmight get lost (downstream of altered splice site)
597605STRANDmight get lost (downstream of altered splice site)
598598MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
610615STRANDmight get lost (downstream of altered splice site)
614614MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
618620HELIXmight get lost (downstream of altered splice site)
621624TURNmight get lost (downstream of altered splice site)
627627MUTAGENK->A: Impairs DNA binding; when associated with A-663; A-667; A-670; A- 674; A-732; A-734 and A-759.might get lost (downstream of altered splice site)
629634STRANDmight get lost (downstream of altered splice site)
636638STRANDmight get lost (downstream of altered splice site)
641644STRANDmight get lost (downstream of altered splice site)
648652STRANDmight get lost (downstream of altered splice site)
655657STRANDmight get lost (downstream of altered splice site)
663663MUTAGENK->A: Impairs DNA binding; when associated with A-627; A-667; A-670; A- 674; A-732; A-734 and A-759.might get lost (downstream of altered splice site)
663670HELIXmight get lost (downstream of altered splice site)
667667MUTAGENR->A: Impairs DNA binding; when associated with A-627; A-663; A-670; A- 674; A-732; A-734 and A-759.might get lost (downstream of altered splice site)
670670MUTAGENS->A: Impairs DNA binding; when associated with A-627; A-663; A-667; A- 674; A-732; A-734 and A-759.might get lost (downstream of altered splice site)
674674MUTAGENK->A: Impairs DNA binding; when associated with A-627; A-663; A-667; A- 670; A-732; A-734 and A-759.might get lost (downstream of altered splice site)
675679HELIXmight get lost (downstream of altered splice site)
683683CONFLICTK -> R (in Ref. 4; AAM96005).might get lost (downstream of altered splice site)
685699STRANDmight get lost (downstream of altered splice site)
702709STRANDmight get lost (downstream of altered splice site)
712718STRANDmight get lost (downstream of altered splice site)
720724HELIXmight get lost (downstream of altered splice site)
723723CONFLICTT -> N (in Ref. 1; AAA58683 and 2; AAB32519).might get lost (downstream of altered splice site)
732732MUTAGENK->A: Impairs DNA binding; when associated with A-627; A-663; A-667; A- 670; A- 674; A-734 and A-759.might get lost (downstream of altered splice site)
732741STRANDmight get lost (downstream of altered splice site)
734734MUTAGENK->A: Impairs DNA binding; when associated with A-627; A-663; A-667; A- 670; A- 674; A-732 and A-759.might get lost (downstream of altered splice site)
737737CONFLICTC -> S (in Ref. 1; AAA58683 and 2; AAB32519).might get lost (downstream of altered splice site)
744747TURNmight get lost (downstream of altered splice site)
749761STRANDmight get lost (downstream of altered splice site)
759759MUTAGENK->A: Impairs DNA binding; when associated with A-627; A-663; A-667; A- 670; A- 674; A-732 and A-734.might get lost (downstream of altered splice site)
764766TURNmight get lost (downstream of altered splice site)
780780MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2202 / 2202
position (AA) of stopcodon in wt / mu AA sequence 734 / 734
position of stopcodon in wt / mu cDNA 2362 / 2362
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 161 / 161
chromosome 1
strand 1
last intron/exon boundary 2282
theoretical NMD boundary in CDS 2071
length of CDS 2202
coding sequence (CDS) position 1081
cDNA position
(for ins/del: last normal base / first normal base)		 1241
gDNA position
(for ins/del: last normal base / first normal base)		 32632
chromosomal position
(for ins/del: last normal base / first normal base)		 159002389
original gDNA sequence snippet AGGAACAGCGTCAGCTTCCATATCCTTCAGAGGCCAGCACA
altered gDNA sequence snippet AGGAACAGCGTCAGCTTCCAAATCCTTCAGAGGCCAGCACA
original cDNA sequence snippet AGGAACAGCGTCAGCTTCCATATCCTTCAGAGGCCAGCACA
altered cDNA sequence snippet AGGAACAGCGTCAGCTTCCAAATCCTTCAGAGGCCAGCACA
wildtype AA sequence MSVKMGKKYK NIVLLKGLEV INDYHFRMVK SLLSNDLKLN LKMREEYDKI QIADLMEEKF
RGDAGLGKLI KIFEDIPTLE DLAETLKKEK LKVKGPALSR KRKKEVDATS PAPSTSSTVK
TEGAEATPGA QNPKTVAKCQ VTPRRNVLQK RPVIVKVLST TKPFEYETPE MEKKIMFHAT
VATQTQFFHV KVLNTSLKEK FNGKKIIIIS DYLEYDSLLE VNEESTVSEA GPNQTFEVPN
KIINRAKETL KIDILHKQAS GNIVYGVFML HKKTVNQKTT IYEIQDDRGK MDVVGTGQCH
NIPCEEGDKL QLFCFRLRKK NQMSKLISEM HSFIQIKKKT NPRNNDPKSM KLPQEQRQLP
YPSEASTTFP ESHLRTPQMP PTTPSSSFFT KKSEDTISKM NDFMRMQILK EGSHFPGPFM
TSIGPAESHP HTPQMPPSTP SSSFLTTKSE DTISKMNDFM RMQILKEGSH FPGPFMTSIG
PAESHPHTPQ MPPSTPSSSF LTTLKPRLKT EPEEVSIEDS AQSDLKEVMV LNATESFVYE
PKEQKKMFHA TVATENEVFR VKVFNIDLKE KFTPKKIIAI ANYVCRNGFL EVYPFTLVAD
VNADRNMEIP KGLIRSASVT PKINQLCSQT KGSFVNGVFE VHKKNVRGEF TYYEIQDNTG
KMEVVVHGRL TTINCEEGDK LKLTCFELAP KSGNTGELRS VIHSHIKVIK TRKNKKDILN
PDSSMETSPD FFF*
mutated AA sequence MSVKMGKKYK NIVLLKGLEV INDYHFRMVK SLLSNDLKLN LKMREEYDKI QIADLMEEKF
RGDAGLGKLI KIFEDIPTLE DLAETLKKEK LKVKGPALSR KRKKEVDATS PAPSTSSTVK
TEGAEATPGA QNPKTVAKCQ VTPRRNVLQK RPVIVKVLST TKPFEYETPE MEKKIMFHAT
VATQTQFFHV KVLNTSLKEK FNGKKIIIIS DYLEYDSLLE VNEESTVSEA GPNQTFEVPN
KIINRAKETL KIDILHKQAS GNIVYGVFML HKKTVNQKTT IYEIQDDRGK MDVVGTGQCH
NIPCEEGDKL QLFCFRLRKK NQMSKLISEM HSFIQIKKKT NPRNNDPKSM KLPQEQRQLP
NPSEASTTFP ESHLRTPQMP PTTPSSSFFT KKSEDTISKM NDFMRMQILK EGSHFPGPFM
TSIGPAESHP HTPQMPPSTP SSSFLTTKSE DTISKMNDFM RMQILKEGSH FPGPFMTSIG
PAESHPHTPQ MPPSTPSSSF LTTLKPRLKT EPEEVSIEDS AQSDLKEVMV LNATESFVYE
PKEQKKMFHA TVATENEVFR VKVFNIDLKE KFTPKKIIAI ANYVCRNGFL EVYPFTLVAD
VNADRNMEIP KGLIRSASVT PKINQLCSQT KGSFVNGVFE VHKKNVRGEF TYYEIQDNTG
KMEVVVHGRL TTINCEEGDK LKLTCFELAP KSGNTGELRS VIHSHIKVIK TRKNKKDILN
PDSSMETSPD FFF*
speed 0.73 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

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