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 6 transcript(s)...
Querying Taster for transcript #1: ENST00000258381
Querying Taster for transcript #2: ENST00000358662
Querying Taster for transcript #3: ENST00000392048
Querying Taster for transcript #4: ENST00000258382
Querying Taster for transcript #5: ENST00000540870
Querying Taster for transcript #6: ENST00000338556
MT speed 0 s - this script 3.846148 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
SP110polymorphism_automatic2.9499735987315e-12simple_aaeaffectedG299Rsingle base exchangers1365776show file
SP110polymorphism_automatic2.9499735987315e-12simple_aaeaffectedG299Rsingle base exchangers1365776show file
SP110polymorphism_automatic2.9499735987315e-12simple_aaeaffectedG299Rsingle base exchangers1365776show file
SP110polymorphism_automatic2.9499735987315e-12simple_aaeaffectedG299Rsingle base exchangers1365776show file
SP110polymorphism_automatic2.9499735987315e-12simple_aaeaffectedG305Rsingle base exchangers1365776show file
SP110polymorphism_automatic4.89897011846097e-12simple_aaeaffectedG51Rsingle base exchangers1365776show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.99999999999705 (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) chr2:231072709C>TN/A show variant in all transcripts   IGV
HGNC symbol SP110
Ensembl transcript ID ENST00000258381
Genbank transcript ID NM_080424
UniProt peptide Q9HB58
alteration type single base exchange
alteration region CDS
DNA changes c.895G>A
cDNA.973G>A
g.17736G>A
AA changes G299R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 299
frameshift no
known variant Reference ID: rs1365776
databasehomozygous (T/T)heterozygousallele carriers
1000G16696812350
ExAC24440-161138327
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.1940.004
-0.2370.001
(flanking)0.2720.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites alteration within used splice site, likely to disturb normal splicing
effectgDNA positionscoredetection sequence  exon-intron border
Donor lost17739sequence motif lost- wt: GGAG|gtaa
 mu: AGAG.gtaa
Donor increased17734wt: 0.71 / mu: 0.80wt: CCTCCCAGGAGGTAA
mu: CCTCCCAAGAGGTAA		 TCCC|agga
Donor increased17733wt: 0.24 / mu: 0.32wt: GCCTCCCAGGAGGTA
mu: GCCTCCCAAGAGGTA		 CTCC|cagg
Donor marginally increased17738wt: 0.9793 / mu: 0.9924 (marginal change - not scored)wt: CCAGGAGGTAAGATG
mu: CCAAGAGGTAAGATG		 AGGA|ggta
Donor gained177310.93mu: AAGCCTCCCAAGAGG GCCT|ccca
distance from splice site 4
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      299PKRRHKKKSLPGGTASSRHGIQKK
mutated  not conserved    299PKRRHKKKSLPRGTASSRHGIQK
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000070034  269SKRRRQKKKPRQDEMMGVASPGHG
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000055359  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no alignment  ENSXETG00000032669  n/a
protein features
start (aa)end (aa)featuredetails 
428444MOTIFNuclear localization signal (Potential).might get lost (downstream of altered splice site)
454535DOMAINSAND.might get lost (downstream of altered splice site)
464464CONFLICTL -> S (in Ref. 1; AAA18806).might get lost (downstream of altered splice site)
525529REGIONNuclear hormone receptor interaction (Potential).might get lost (downstream of altered splice site)
534580ZN_FINGPHD-type.might get lost (downstream of altered splice site)
570570CONFLICTM -> I (in Ref. 3; AK026488).might get lost (downstream of altered splice site)
581676DOMAINBromo.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2142 / 2142
position (AA) of stopcodon in wt / mu AA sequence 714 / 714
position of stopcodon in wt / mu cDNA 2220 / 2220
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 79 / 79
chromosome 2
strand -1
last intron/exon boundary 2107
theoretical NMD boundary in CDS 1978
length of CDS 2142
coding sequence (CDS) position 895
cDNA position
(for ins/del: last normal base / first normal base)		 973
gDNA position
(for ins/del: last normal base / first normal base)		 17736
chromosomal position
(for ins/del: last normal base / first normal base)		 231072709
original gDNA sequence snippet ATAAGAAAAAAAGCCTCCCAGGAGGTAAGATGAGAGTACAA
altered gDNA sequence snippet ATAAGAAAAAAAGCCTCCCAAGAGGTAAGATGAGAGTACAA
original cDNA sequence snippet ATAAGAAAAAAAGCCTCCCAGGAGGGACAGCCTCATCTAGA
altered cDNA sequence snippet ATAAGAAAAAAAGCCTCCCAAGAGGGACAGCCTCATCTAGA
wildtype AA sequence MFTMTRAMEE ALFQHFMHQK LGIAYAIHKP FPFFEGLLDN SIITKRMYME SLEACRNLIP
VSRVVHNILT QLERTFNLSL LVTLFSQINL REYPNLVTIY RSFKRVGASY EWQSRDTPIL
LEAPTGLAEG SSLHTPLALP PPQPPQPSCS PCAPRVSEPG TSSQQSDEIL SESPSPSDPV
LPLPALIQEG RSTSVTNDKL TSKMNAEEDS EEMPSLLTST VQVASDNLIP QIRDKEDPQE
MPHSPLGSMP EIRDNSPEPN DPEEPQEVSS TPSDKKGKKR KRCIWSTPKR RHKKKSLPGG
TASSRHGIQK KLKRVDQVPQ KKDDSTCNST VETRAQKART ECARKSRSEE IIDGTSEMNE
GKRSQKTPST PRRVTQGAAS PGHGIQEKLQ VVDKVTQRKD DSTWNSEVMM RVQKARTKCA
RKSRLKEKKK EKDICSSSKR RFQKNIHRRG KPKSDTVDFH CSKLPVTCGE AKGILYKKKM
KHGSSVKCIR NEDGTWLTPN EFEVEGKGRN AKNWKRNIRC EGMTLGELLK RKNSDECEVC
CQGGQLLCCG TCPRVFHEDC HIPPVEAKRM LWSCTFCRMK RSSGSQQCHH VSKTLERQMQ
PQDQLKCEFL LLKAYCHPQS SFFTGIPFNI RDYGEPFQEA MWLDLVKERL ITEMYTVAWF
VRDMRLMFRN HKTFYKASDF GQVGLDLEAE FEKDLKDVLG FHEANDGGFW TLP*
mutated AA sequence MFTMTRAMEE ALFQHFMHQK LGIAYAIHKP FPFFEGLLDN SIITKRMYME SLEACRNLIP
VSRVVHNILT QLERTFNLSL LVTLFSQINL REYPNLVTIY RSFKRVGASY EWQSRDTPIL
LEAPTGLAEG SSLHTPLALP PPQPPQPSCS PCAPRVSEPG TSSQQSDEIL SESPSPSDPV
LPLPALIQEG RSTSVTNDKL TSKMNAEEDS EEMPSLLTST VQVASDNLIP QIRDKEDPQE
MPHSPLGSMP EIRDNSPEPN DPEEPQEVSS TPSDKKGKKR KRCIWSTPKR RHKKKSLPRG
TASSRHGIQK KLKRVDQVPQ KKDDSTCNST VETRAQKART ECARKSRSEE IIDGTSEMNE
GKRSQKTPST PRRVTQGAAS PGHGIQEKLQ VVDKVTQRKD DSTWNSEVMM RVQKARTKCA
RKSRLKEKKK EKDICSSSKR RFQKNIHRRG KPKSDTVDFH CSKLPVTCGE AKGILYKKKM
KHGSSVKCIR NEDGTWLTPN EFEVEGKGRN AKNWKRNIRC EGMTLGELLK RKNSDECEVC
CQGGQLLCCG TCPRVFHEDC HIPPVEAKRM LWSCTFCRMK RSSGSQQCHH VSKTLERQMQ
PQDQLKCEFL LLKAYCHPQS SFFTGIPFNI RDYGEPFQEA MWLDLVKERL ITEMYTVAWF
VRDMRLMFRN HKTFYKASDF GQVGLDLEAE FEKDLKDVLG FHEANDGGFW TLP*
speed 0.14 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: 0.99999999999705 (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) chr2:231072709C>TN/A show variant in all transcripts   IGV
HGNC symbol SP110
Ensembl transcript ID ENST00000358662
Genbank transcript ID NM_004509
UniProt peptide Q9HB58
alteration type single base exchange
alteration region CDS
DNA changes c.895G>A
cDNA.974G>A
g.17736G>A
AA changes G299R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 299
frameshift no
known variant Reference ID: rs1365776
databasehomozygous (T/T)heterozygousallele carriers
1000G16696812350
ExAC24440-161138327
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.1940.004
-0.2370.001
(flanking)0.2720.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites alteration within used splice site, likely to disturb normal splicing
effectgDNA positionscoredetection sequence  exon-intron border
Donor lost17739sequence motif lost- wt: GGAG|gtaa
 mu: AGAG.gtaa
Donor increased17734wt: 0.71 / mu: 0.80wt: CCTCCCAGGAGGTAA
mu: CCTCCCAAGAGGTAA		 TCCC|agga
Donor increased17733wt: 0.24 / mu: 0.32wt: GCCTCCCAGGAGGTA
mu: GCCTCCCAAGAGGTA		 CTCC|cagg
Donor marginally increased17738wt: 0.9793 / mu: 0.9924 (marginal change - not scored)wt: CCAGGAGGTAAGATG
mu: CCAAGAGGTAAGATG		 AGGA|ggta
Donor gained177310.93mu: AAGCCTCCCAAGAGG GCCT|ccca
distance from splice site 4
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      299PKRRHKKKSLPGGTASSRHGIQKK
mutated  not conserved    299PKRRHKKKSLPRGTASSRHGIQK
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000070034  269SKRRRQKKKPRQDEMMGVASPGHG
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000055359  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no alignment  ENSXETG00000032669  n/a
protein features
start (aa)end (aa)featuredetails 
428444MOTIFNuclear localization signal (Potential).might get lost (downstream of altered splice site)
454535DOMAINSAND.might get lost (downstream of altered splice site)
464464CONFLICTL -> S (in Ref. 1; AAA18806).might get lost (downstream of altered splice site)
525529REGIONNuclear hormone receptor interaction (Potential).might get lost (downstream of altered splice site)
534580ZN_FINGPHD-type.might get lost (downstream of altered splice site)
570570CONFLICTM -> I (in Ref. 3; AK026488).might get lost (downstream of altered splice site)
581676DOMAINBromo.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2070 / 2070
position (AA) of stopcodon in wt / mu AA sequence 690 / 690
position of stopcodon in wt / mu cDNA 2149 / 2149
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 80 / 80
chromosome 2
strand -1
last intron/exon boundary 2036
theoretical NMD boundary in CDS 1906
length of CDS 2070
coding sequence (CDS) position 895
cDNA position
(for ins/del: last normal base / first normal base)		 974
gDNA position
(for ins/del: last normal base / first normal base)		 17736
chromosomal position
(for ins/del: last normal base / first normal base)		 231072709
original gDNA sequence snippet ATAAGAAAAAAAGCCTCCCAGGAGGTAAGATGAGAGTACAA
altered gDNA sequence snippet ATAAGAAAAAAAGCCTCCCAAGAGGTAAGATGAGAGTACAA
original cDNA sequence snippet ATAAGAAAAAAAGCCTCCCAGGAGGGACAGCCTCATCTAGA
altered cDNA sequence snippet ATAAGAAAAAAAGCCTCCCAAGAGGGACAGCCTCATCTAGA
wildtype AA sequence MFTMTRAMEE ALFQHFMHQK LGIAYAIHKP FPFFEGLLDN SIITKRMYME SLEACRNLIP
VSRVVHNILT QLERTFNLSL LVTLFSQINL REYPNLVTIY RSFKRVGASY EWQSRDTPIL
LEAPTGLAEG SSLHTPLALP PPQPPQPSCS PCAPRVSEPG TSSQQSDEIL SESPSPSDPV
LPLPALIQEG RSTSVTNDKL TSKMNAEEDS EEMPSLLTST VQVASDNLIP QIRDKEDPQE
MPHSPLGSMP EIRDNSPEPN DPEEPQEVSS TPSDKKGKKR KRCIWSTPKR RHKKKSLPGG
TASSRHGIQK KLKRVDQVPQ KKDDSTCNST VETRAQKART ECARKSRSEE IIDGTSEMNE
GKRSQKTPST PRRVTQGAAS PGHGIQEKLQ VVDKVTQRKD DSTWNSEVMM RVQKARTKCA
RKSRLKEKKK EKDICSSSKR RFQKNIHRRG KPKSDTVDFH CSKLPVTCGE AKGILYKKKM
KHGSSVKCIR NEDGTWLTPN EFEVEGKGRN AKNWKRNIRC EGMTLGELLK RKNSDECEVC
CQGGQLLCCG TCPRVFHEDC HIPPVEAKRM LWSCTFCRMK RSSGSQQCHH VSKTLERQMQ
PQDQLIRDYG EPFQEAMWLD LVKERLITEM YTVAWFVRDM RLMFRNHKTF YKASDFGQVG
LDLEAEFEKD LKDVLGFHEA NDGGFWTLP*
mutated AA sequence MFTMTRAMEE ALFQHFMHQK LGIAYAIHKP FPFFEGLLDN SIITKRMYME SLEACRNLIP
VSRVVHNILT QLERTFNLSL LVTLFSQINL REYPNLVTIY RSFKRVGASY EWQSRDTPIL
LEAPTGLAEG SSLHTPLALP PPQPPQPSCS PCAPRVSEPG TSSQQSDEIL SESPSPSDPV
LPLPALIQEG RSTSVTNDKL TSKMNAEEDS EEMPSLLTST VQVASDNLIP QIRDKEDPQE
MPHSPLGSMP EIRDNSPEPN DPEEPQEVSS TPSDKKGKKR KRCIWSTPKR RHKKKSLPRG
TASSRHGIQK KLKRVDQVPQ KKDDSTCNST VETRAQKART ECARKSRSEE IIDGTSEMNE
GKRSQKTPST PRRVTQGAAS PGHGIQEKLQ VVDKVTQRKD DSTWNSEVMM RVQKARTKCA
RKSRLKEKKK EKDICSSSKR RFQKNIHRRG KPKSDTVDFH CSKLPVTCGE AKGILYKKKM
KHGSSVKCIR NEDGTWLTPN EFEVEGKGRN AKNWKRNIRC EGMTLGELLK RKNSDECEVC
CQGGQLLCCG TCPRVFHEDC HIPPVEAKRM LWSCTFCRMK RSSGSQQCHH VSKTLERQMQ
PQDQLIRDYG EPFQEAMWLD LVKERLITEM YTVAWFVRDM RLMFRNHKTF YKASDFGQVG
LDLEAEFEKD LKDVLGFHEA NDGGFWTLP*
speed 1.43 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: 0.99999999999705 (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) chr2:231072709C>TN/A show variant in all transcripts   IGV
HGNC symbol SP110
Ensembl transcript ID ENST00000392048
Genbank transcript ID N/A
UniProt peptide Q9HB58
alteration type single base exchange
alteration region CDS
DNA changes c.895G>A
cDNA.996G>A
g.17736G>A
AA changes G299R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 299
frameshift no
known variant Reference ID: rs1365776
databasehomozygous (T/T)heterozygousallele carriers
1000G16696812350
ExAC24440-161138327
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.1940.004
-0.2370.001
(flanking)0.2720.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites alteration within used splice site, likely to disturb normal splicing
effectgDNA positionscoredetection sequence  exon-intron border
Donor lost17739sequence motif lost- wt: GGAG|gtaa
 mu: AGAG.gtaa
Donor increased17734wt: 0.71 / mu: 0.80wt: CCTCCCAGGAGGTAA
mu: CCTCCCAAGAGGTAA		 TCCC|agga
Donor increased17733wt: 0.24 / mu: 0.32wt: GCCTCCCAGGAGGTA
mu: GCCTCCCAAGAGGTA		 CTCC|cagg
Donor marginally increased17738wt: 0.9793 / mu: 0.9924 (marginal change - not scored)wt: CCAGGAGGTAAGATG
mu: CCAAGAGGTAAGATG		 AGGA|ggta
Donor gained177310.93mu: AAGCCTCCCAAGAGG GCCT|ccca
distance from splice site 4
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      299PKRRHKKKSLPGASSRHGIQKKLK
mutated  not conserved    299PKRRHKKKSLPRASSRHGIQKKL
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000070034  273EMMGVASPGHGVQEKL
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000055359  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no alignment  ENSXETG00000032669  n/a
protein features
start (aa)end (aa)featuredetails 
428444MOTIFNuclear localization signal (Potential).might get lost (downstream of altered splice site)
454535DOMAINSAND.might get lost (downstream of altered splice site)
464464CONFLICTL -> S (in Ref. 1; AAA18806).might get lost (downstream of altered splice site)
525529REGIONNuclear hormone receptor interaction (Potential).might get lost (downstream of altered splice site)
534580ZN_FINGPHD-type.might get lost (downstream of altered splice site)
570570CONFLICTM -> I (in Ref. 3; AK026488).might get lost (downstream of altered splice site)
581676DOMAINBromo.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1644 / 1644
position (AA) of stopcodon in wt / mu AA sequence 548 / 548
position of stopcodon in wt / mu cDNA 1745 / 1745
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 102 / 102
chromosome 2
strand -1
last intron/exon boundary 1686
theoretical NMD boundary in CDS 1534
length of CDS 1644
coding sequence (CDS) position 895
cDNA position
(for ins/del: last normal base / first normal base)		 996
gDNA position
(for ins/del: last normal base / first normal base)		 17736
chromosomal position
(for ins/del: last normal base / first normal base)		 231072709
original gDNA sequence snippet ATAAGAAAAAAAGCCTCCCAGGAGGTAAGATGAGAGTACAA
altered gDNA sequence snippet ATAAGAAAAAAAGCCTCCCAAGAGGTAAGATGAGAGTACAA
original cDNA sequence snippet ATAAGAAAAAAAGCCTCCCAGGAGCCTCATCTAGACACGGA
altered cDNA sequence snippet ATAAGAAAAAAAGCCTCCCAAGAGCCTCATCTAGACACGGA
wildtype AA sequence MFTMTRAMEE ALFQHFMHQK LGIAYAIHKP FPFFEGLLDN SIITKRMYME SLEACRNLIP
VSRVVHNILT QLERTFNLSL LVTLFSQINL REYPNLVTIY RSFKRVGASY EWQSRDTPIL
LEAPTGLAEG SSLHTPLALP PPQPPQPSCS PCAPRVSEPG TSSQQSDEIL SESPSPSDPV
LPLPALIQEG RSTSVTNDKL TSKMNAEEDS EEMPSLLTST VQVASDNLIP QIRDKEDPQE
MPHSPLGSMP EIRDNSPEPN DPEEPQEVSS TPSDKKGKKR KRCIWSTPKR RHKKKSLPGA
SSRHGIQKKL KRVDQVPQKK DDSTCNSTVE TRAQKARTEC ARKSRSEEII DGTSEMNEGK
RSQKTPSTPR RVTQGAASPG HGIQEKLQVV DKVTQRKDDS TWNSEVMMRV QKARTKCARK
SRLKEKKKEK DICSSSKRRF QKNIHRRGKP KSDTVDFHCS KLPVTCGEAK GILYKKKMKH
GSSVKCIRNE DGTWLTPNEF EVEGKGRNAK NWKRNIRCEG MTLGELLKSG LLLCPPRINL
KRELNSK*
mutated AA sequence MFTMTRAMEE ALFQHFMHQK LGIAYAIHKP FPFFEGLLDN SIITKRMYME SLEACRNLIP
VSRVVHNILT QLERTFNLSL LVTLFSQINL REYPNLVTIY RSFKRVGASY EWQSRDTPIL
LEAPTGLAEG SSLHTPLALP PPQPPQPSCS PCAPRVSEPG TSSQQSDEIL SESPSPSDPV
LPLPALIQEG RSTSVTNDKL TSKMNAEEDS EEMPSLLTST VQVASDNLIP QIRDKEDPQE
MPHSPLGSMP EIRDNSPEPN DPEEPQEVSS TPSDKKGKKR KRCIWSTPKR RHKKKSLPRA
SSRHGIQKKL KRVDQVPQKK DDSTCNSTVE TRAQKARTEC ARKSRSEEII DGTSEMNEGK
RSQKTPSTPR RVTQGAASPG HGIQEKLQVV DKVTQRKDDS TWNSEVMMRV QKARTKCARK
SRLKEKKKEK DICSSSKRRF QKNIHRRGKP KSDTVDFHCS KLPVTCGEAK GILYKKKMKH
GSSVKCIRNE DGTWLTPNEF EVEGKGRNAK NWKRNIRCEG MTLGELLKSG LLLCPPRINL
KRELNSK*
speed 0.14 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: 0.99999999999705 (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) chr2:231072709C>TN/A show variant in all transcripts   IGV
HGNC symbol SP110
Ensembl transcript ID ENST00000258382
Genbank transcript ID NM_004510
UniProt peptide Q9HB58
alteration type single base exchange
alteration region CDS
DNA changes c.895G>A
cDNA.1135G>A
g.17736G>A
AA changes G299R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 299
frameshift no
known variant Reference ID: rs1365776
databasehomozygous (T/T)heterozygousallele carriers
1000G16696812350
ExAC24440-161138327
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.1940.004
-0.2370.001
(flanking)0.2720.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites alteration within used splice site, likely to disturb normal splicing
effectgDNA positionscoredetection sequence  exon-intron border
Donor lost17739sequence motif lost- wt: GGAG|gtaa
 mu: AGAG.gtaa
Donor increased17734wt: 0.71 / mu: 0.80wt: CCTCCCAGGAGGTAA
mu: CCTCCCAAGAGGTAA		 TCCC|agga
Donor increased17733wt: 0.24 / mu: 0.32wt: GCCTCCCAGGAGGTA
mu: GCCTCCCAAGAGGTA		 CTCC|cagg
Donor marginally increased17738wt: 0.9793 / mu: 0.9924 (marginal change - not scored)wt: CCAGGAGGTAAGATG
mu: CCAAGAGGTAAGATG		 AGGA|ggta
Donor gained177310.93mu: AAGCCTCCCAAGAGG GCCT|ccca
distance from splice site 4
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      299PKRRHKKKSLPGGTASSRHGIQKK
mutated  not conserved    299PKRRHKKKSLPRGTASSRHGIQK
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000070034  269SKRRRQKKKPRQDEMMGVASPGHG
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000055359  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no alignment  ENSXETG00000032669  n/a
protein features
start (aa)end (aa)featuredetails 
428444MOTIFNuclear localization signal (Potential).might get lost (downstream of altered splice site)
454535DOMAINSAND.might get lost (downstream of altered splice site)
464464CONFLICTL -> S (in Ref. 1; AAA18806).might get lost (downstream of altered splice site)
525529REGIONNuclear hormone receptor interaction (Potential).might get lost (downstream of altered splice site)
534580ZN_FINGPHD-type.might get lost (downstream of altered splice site)
570570CONFLICTM -> I (in Ref. 3; AK026488).might get lost (downstream of altered splice site)
581676DOMAINBromo.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1650 / 1650
position (AA) of stopcodon in wt / mu AA sequence 550 / 550
position of stopcodon in wt / mu cDNA 1890 / 1890
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 241 / 241
chromosome 2
strand -1
last intron/exon boundary 1831
theoretical NMD boundary in CDS 1540
length of CDS 1650
coding sequence (CDS) position 895
cDNA position
(for ins/del: last normal base / first normal base)		 1135
gDNA position
(for ins/del: last normal base / first normal base)		 17736
chromosomal position
(for ins/del: last normal base / first normal base)		 231072709
original gDNA sequence snippet ATAAGAAAAAAAGCCTCCCAGGAGGTAAGATGAGAGTACAA
altered gDNA sequence snippet ATAAGAAAAAAAGCCTCCCAAGAGGTAAGATGAGAGTACAA
original cDNA sequence snippet ATAAGAAAAAAAGCCTCCCAGGAGGGACAGCCTCATCTAGA
altered cDNA sequence snippet ATAAGAAAAAAAGCCTCCCAAGAGGGACAGCCTCATCTAGA
wildtype AA sequence MFTMTRAMEE ALFQHFMHQK LGIAYAIHKP FPFFEGLLDN SIITKRMYME SLEACRNLIP
VSRVVHNILT QLERTFNLSL LVTLFSQINL REYPNLVTIY RSFKRVGASY EWQSRDTPIL
LEAPTGLAEG SSLHTPLALP PPQPPQPSCS PCAPRVSEPG TSSQQSDEIL SESPSPSDPV
LPLPALIQEG RSTSVTNDKL TSKMNAEEDS EEMPSLLTST VQVASDNLIP QIRDKEDPQE
MPHSPLGSMP EIRDNSPEPN DPEEPQEVSS TPSDKKGKKR KRCIWSTPKR RHKKKSLPGG
TASSRHGIQK KLKRVDQVPQ KKDDSTCNST VETRAQKART ECARKSRSEE IIDGTSEMNE
GKRSQKTPST PRRVTQGAAS PGHGIQEKLQ VVDKVTQRKD DSTWNSEVMM RVQKARTKCA
RKSRLKEKKK EKDICSSSKR RFQKNIHRRG KPKSDTVDFH CSKLPVTCGE AKGILYKKKM
KHGSSVKCIR NEDGTWLTPN EFEVEGKGRN AKNWKRNIRC EGMTLGELLK SGLLLCPPRI
NLKRELNSK*
mutated AA sequence MFTMTRAMEE ALFQHFMHQK LGIAYAIHKP FPFFEGLLDN SIITKRMYME SLEACRNLIP
VSRVVHNILT QLERTFNLSL LVTLFSQINL REYPNLVTIY RSFKRVGASY EWQSRDTPIL
LEAPTGLAEG SSLHTPLALP PPQPPQPSCS PCAPRVSEPG TSSQQSDEIL SESPSPSDPV
LPLPALIQEG RSTSVTNDKL TSKMNAEEDS EEMPSLLTST VQVASDNLIP QIRDKEDPQE
MPHSPLGSMP EIRDNSPEPN DPEEPQEVSS TPSDKKGKKR KRCIWSTPKR RHKKKSLPRG
TASSRHGIQK KLKRVDQVPQ KKDDSTCNST VETRAQKART ECARKSRSEE IIDGTSEMNE
GKRSQKTPST PRRVTQGAAS PGHGIQEKLQ VVDKVTQRKD DSTWNSEVMM RVQKARTKCA
RKSRLKEKKK EKDICSSSKR RFQKNIHRRG KPKSDTVDFH CSKLPVTCGE AKGILYKKKM
KHGSSVKCIR NEDGTWLTPN EFEVEGKGRN AKNWKRNIRC EGMTLGELLK SGLLLCPPRI
NLKRELNSK*
speed 0.18 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: 0.99999999999705 (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) chr2:231072709C>TN/A show variant in all transcripts   IGV
HGNC symbol SP110
Ensembl transcript ID ENST00000540870
Genbank transcript ID NM_001185015
UniProt peptide Q9HB58
alteration type single base exchange
alteration region CDS
DNA changes c.913G>A
cDNA.1171G>A
g.17736G>A
AA changes G305R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 305
frameshift no
known variant Reference ID: rs1365776
databasehomozygous (T/T)heterozygousallele carriers
1000G16696812350
ExAC24440-161138327
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.1940.004
-0.2370.001
(flanking)0.2720.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites alteration within used splice site, likely to disturb normal splicing
effectgDNA positionscoredetection sequence  exon-intron border
Donor lost17739sequence motif lost- wt: GGAG|gtaa
 mu: AGAG.gtaa
Donor increased17734wt: 0.71 / mu: 0.80wt: CCTCCCAGGAGGTAA
mu: CCTCCCAAGAGGTAA		 TCCC|agga
Donor increased17733wt: 0.24 / mu: 0.32wt: GCCTCCCAGGAGGTA
mu: GCCTCCCAAGAGGTA		 CTCC|cagg
Donor marginally increased17738wt: 0.9793 / mu: 0.9924 (marginal change - not scored)wt: CCAGGAGGTAAGATG
mu: CCAAGAGGTAAGATG		 AGGA|ggta
Donor gained177310.93mu: AAGCCTCCCAAGAGG GCCT|ccca
distance from splice site 4
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      305PKRRHKKKSLPGGTASSRHGIQKK
mutated  not conserved    305KSLPRGTASSRHGIQK
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000070034  269SKRRRQKKKPRQDEMMGVASPGHG
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000055359  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no alignment  ENSXETG00000032669  n/a
protein features
start (aa)end (aa)featuredetails 
428444MOTIFNuclear localization signal (Potential).might get lost (downstream of altered splice site)
454535DOMAINSAND.might get lost (downstream of altered splice site)
464464CONFLICTL -> S (in Ref. 1; AAA18806).might get lost (downstream of altered splice site)
525529REGIONNuclear hormone receptor interaction (Potential).might get lost (downstream of altered splice site)
534580ZN_FINGPHD-type.might get lost (downstream of altered splice site)
570570CONFLICTM -> I (in Ref. 3; AK026488).might get lost (downstream of altered splice site)
581676DOMAINBromo.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1668 / 1668
position (AA) of stopcodon in wt / mu AA sequence 556 / 556
position of stopcodon in wt / mu cDNA 1926 / 1926
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 259 / 259
chromosome 2
strand -1
last intron/exon boundary 1867
theoretical NMD boundary in CDS 1558
length of CDS 1668
coding sequence (CDS) position 913
cDNA position
(for ins/del: last normal base / first normal base)		 1171
gDNA position
(for ins/del: last normal base / first normal base)		 17736
chromosomal position
(for ins/del: last normal base / first normal base)		 231072709
original gDNA sequence snippet ATAAGAAAAAAAGCCTCCCAGGAGGTAAGATGAGAGTACAA
altered gDNA sequence snippet ATAAGAAAAAAAGCCTCCCAAGAGGTAAGATGAGAGTACAA
original cDNA sequence snippet ATAAGAAAAAAAGCCTCCCAGGAGGGACAGCCTCATCTAGA
altered cDNA sequence snippet ATAAGAAAAAAAGCCTCCCAAGAGGGACAGCCTCATCTAGA
wildtype AA sequence MGRGFRMFTM TRAMEEALFQ HFMHQKLGIA YAIHKPFPFF EGLLDNSIIT KRMYMESLEA
CRNLIPVSRV VHNILTQLER TFNLSLLVTL FSQINLREYP NLVTIYRSFK RVGASYEWQS
RDTPILLEAP TGLAEGSSLH TPLALPPPQP PQPSCSPCAP RVSEPGTSSQ QSDEILSESP
SPSDPVLPLP ALIQEGRSTS VTNDKLTSKM NAEEDSEEMP SLLTSTVQVA SDNLIPQIRD
KEDPQEMPHS PLGSMPEIRD NSPEPNDPEE PQEVSSTPSD KKGKKRKRCI WSTPKRRHKK
KSLPGGTASS RHGIQKKLKR VDQVPQKKDD STCNSTVETR AQKARTECAR KSRSEEIIDG
TSEMNEGKRS QKTPSTPRRV TQGAASPGHG IQEKLQVVDK VTQRKDDSTW NSEVMMRVQK
ARTKCARKSR LKEKKKEKDI CSSSKRRFQK NIHRRGKPKS DTVDFHCSKL PVTCGEAKGI
LYKKKMKHGS SVKCIRNEDG TWLTPNEFEV EGKGRNAKNW KRNIRCEGMT LGELLKSGLL
LCPPRINLKR ELNSK*
mutated AA sequence MGRGFRMFTM TRAMEEALFQ HFMHQKLGIA YAIHKPFPFF EGLLDNSIIT KRMYMESLEA
CRNLIPVSRV VHNILTQLER TFNLSLLVTL FSQINLREYP NLVTIYRSFK RVGASYEWQS
RDTPILLEAP TGLAEGSSLH TPLALPPPQP PQPSCSPCAP RVSEPGTSSQ QSDEILSESP
SPSDPVLPLP ALIQEGRSTS VTNDKLTSKM NAEEDSEEMP SLLTSTVQVA SDNLIPQIRD
KEDPQEMPHS PLGSMPEIRD NSPEPNDPEE PQEVSSTPSD KKGKKRKRCI WSTPKRRHKK
KSLPRGTASS RHGIQKKLKR VDQVPQKKDD STCNSTVETR AQKARTECAR KSRSEEIIDG
TSEMNEGKRS QKTPSTPRRV TQGAASPGHG IQEKLQVVDK VTQRKDDSTW NSEVMMRVQK
ARTKCARKSR LKEKKKEKDI CSSSKRRFQK NIHRRGKPKS DTVDFHCSKL PVTCGEAKGI
LYKKKMKHGS SVKCIRNEDG TWLTPNEFEV EGKGRNAKNW KRNIRCEGMT LGELLKSGLL
LCPPRINLKR ELNSK*
speed 0.20 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: 0.999999999995101 (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) chr2:231072709C>TN/A show variant in all transcripts   IGV
HGNC symbol SP110
Ensembl transcript ID ENST00000338556
Genbank transcript ID N/A
UniProt peptide Q9HB58
alteration type single base exchange
alteration region CDS
DNA changes c.151G>A
cDNA.1135G>A
g.17736G>A
AA changes G51R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 51
frameshift no
known variant Reference ID: rs1365776
databasehomozygous (T/T)heterozygousallele carriers
1000G16696812350
ExAC24440-161138327
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.1940.004
-0.2370.001
(flanking)0.2720.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites alteration within used splice site, likely to disturb normal splicing
effectgDNA positionscoredetection sequence  exon-intron border
Donor lost17739sequence motif lost- wt: GGAG|gtaa
 mu: AGAG.gtaa
Donor increased17734wt: 0.71 / mu: 0.80wt: CCTCCCAGGAGGTAA
mu: CCTCCCAAGAGGTAA		 TCCC|agga
Donor increased17733wt: 0.24 / mu: 0.32wt: GCCTCCCAGGAGGTA
mu: GCCTCCCAAGAGGTA		 CTCC|cagg
Donor marginally increased17738wt: 0.9793 / mu: 0.9924 (marginal change - not scored)wt: CCAGGAGGTAAGATG
mu: CCAAGAGGTAAGATG		 AGGA|ggta
Donor gained177310.93mu: AAGCCTCCCAAGAGG GCCT|ccca
distance from splice site 4
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      51PKRRHKKKSLPGEIIDGTSEMNEG
mutated  not conserved    51PKRRHKKKSLPREIIDGTSEM
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000070034  269SKRRRQKKK--------------
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000055359  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no alignment  ENSXETG00000032669  n/a
protein features
start (aa)end (aa)featuredetails 
1108DOMAINHSR.lost
167167CONFLICTD -> T (in Ref. 2; AAF99318/AAG09826).might get lost (downstream of altered splice site)
175175MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
177177MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
256256MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
281294MOTIFNuclear localization signal (Potential).might get lost (downstream of altered splice site)
428444MOTIFNuclear localization signal (Potential).might get lost (downstream of altered splice site)
454535DOMAINSAND.might get lost (downstream of altered splice site)
464464CONFLICTL -> S (in Ref. 1; AAA18806).might get lost (downstream of altered splice site)
525529REGIONNuclear hormone receptor interaction (Potential).might get lost (downstream of altered splice site)
534580ZN_FINGPHD-type.might get lost (downstream of altered splice site)
570570CONFLICTM -> I (in Ref. 3; AK026488).might get lost (downstream of altered splice site)
581676DOMAINBromo.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 756 / 756
position (AA) of stopcodon in wt / mu AA sequence 252 / 252
position of stopcodon in wt / mu cDNA 1740 / 1740
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 985 / 985
chromosome 2
strand -1
last intron/exon boundary 1681
theoretical NMD boundary in CDS 646
length of CDS 756
coding sequence (CDS) position 151
cDNA position
(for ins/del: last normal base / first normal base)		 1135
gDNA position
(for ins/del: last normal base / first normal base)		 17736
chromosomal position
(for ins/del: last normal base / first normal base)		 231072709
original gDNA sequence snippet ATAAGAAAAAAAGCCTCCCAGGAGGTAAGATGAGAGTACAA
altered gDNA sequence snippet ATAAGAAAAAAAGCCTCCCAAGAGGTAAGATGAGAGTACAA
original cDNA sequence snippet ATAAGAAAAAAAGCCTCCCAGGAGAGATCATTGATGGCACT
altered cDNA sequence snippet ATAAGAAAAAAAGCCTCCCAAGAGAGATCATTGATGGCACT
wildtype AA sequence MPEIRDNSPE PNDPEEPQEV SSTPSDKKGK KRKRCIWSTP KRRHKKKSLP GEIIDGTSEM
NEGKRSQKTP STPRRVTQGA ASPGHGIQEK LQVVDKVTQR KDDSTWNSEV MMRVQKARTK
CARKSRLKEK KKEKDICSSS KRRFQKNIHR RGKPKSDTVD FHCSKLPVTC GEAKGILYKK
KMKHGSSVKC IRNEDGTWLT PNEFEVEGKG RNAKNWKRNI RCEGMTLGEL LKSGLLLCPP
RINLKRELNS K*
mutated AA sequence MPEIRDNSPE PNDPEEPQEV SSTPSDKKGK KRKRCIWSTP KRRHKKKSLP REIIDGTSEM
NEGKRSQKTP STPRRVTQGA ASPGHGIQEK LQVVDKVTQR KDDSTWNSEV MMRVQKARTK
CARKSRLKEK KKEKDICSSS KRRFQKNIHR RGKPKSDTVD FHCSKLPVTC GEAKGILYKK
KMKHGSSVKC IRNEDGTWLT PNEFEVEGKG RNAKNWKRNI RCEGMTLGEL LKSGLLLCPP
RINLKRELNS K*
speed 0.16 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

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