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: ENST00000289575
Querying Taster for transcript #2: ENST00000532236
Querying Taster for transcript #3: ENST00000531756
Querying Taster for transcript #4: ENST00000525650
Querying Taster for transcript #5: ENST00000454962
Querying Taster for transcript #6: ENST00000428359
Querying Taster for transcript #7: ENST00000341411
MT speed 0 s - this script 5.308548 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
SLCO2B1polymorphism_automatic7.2019001873258e-10simple_aaeaffectedR312Qsingle base exchangers12422149show file
SLCO2B1polymorphism_automatic7.2019001873258e-10simple_aaeaffectedR168Qsingle base exchangers12422149show file
SLCO2B1polymorphism_automatic7.2019001873258e-10simple_aaeaffectedR85Qsingle base exchangers12422149show file
SLCO2B1polymorphism_automatic7.2019001873258e-10simple_aaeaffectedR85Qsingle base exchangers12422149show file
SLCO2B1polymorphism_automatic1.26804700073535e-09simple_aaeaffectedR196Qsingle base exchangers12422149show file
SLCO2B1polymorphism_automatic1.26804700073535e-09simple_aaeaffectedR57Qsingle base exchangers12422149show file
SLCO2B1polymorphism_automatic1.26804700073535e-09simple_aaeaffectedR290Qsingle base exchangers12422149show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.99999999927981 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM0911238)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr11:74883577G>AN/A show variant in all transcripts   IGV
HGNC symbol SLCO2B1
Ensembl transcript ID ENST00000289575
Genbank transcript ID NM_007256
UniProt peptide O94956
alteration type single base exchange
alteration region CDS
DNA changes c.935G>A
cDNA.1330G>A
g.71970G>A
AA changes R312Q Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 312
frameshift no
known variant Reference ID: rs12422149
databasehomozygous (A/A)heterozygousallele carriers
1000G160731891
ExAC26921563918331

known disease mutation at this position, please check HGMD for details (HGMD ID CM0911238)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.010
-0.3340
(flanking)0.0290.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased71967wt: 0.9567 / mu: 0.9589 (marginal change - not scored)wt: GTTTCGGCGAAAGGT
mu: GTTTCGGCAAAAGGT		 TTCG|gcga
Donor marginally increased71968wt: 0.9646 / mu: 0.9783 (marginal change - not scored)wt: TTTCGGCGAAAGGTC
mu: TTTCGGCAAAAGGTC		 TCGG|cgaa
Donor gained719660.69mu: AGTTTCGGCAAAAGG TTTC|ggca
distance from splice site 38
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      312MPKEKRELQFRRKVLAVTDSPARK
mutated  all conserved    312MPKEKRELQFRQKVLAVTDSPAR
Ptroglodytes  all identical  ENSPTRG00000004078  312MPKEKRELQFRRKVLAVTDSPAR
Mmulatta  all identical  ENSMMUG00000009126  312MPKEKHELQFRRKVLAVTDSPAR
Fcatus  all identical  ENSFCAG00000011940  314MPKEKQELRFWRKVLTVSDSPVS
Mmusculus  all identical  ENSMUSG00000030737  314MPKEKHEFHFRRKVLASAASTAS
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000054609  281MSKEE-----------IEEAPV-
Dmelanogaster  all conserved  FBgn0036732  456------QLRGKQKPPGQTA
Celegans  not conserved  Y32F6B.1  348DDD----------
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
299366TOPO_DOMCytoplasmic (Potential).lost
367388TRANSMEMHelical; Name=7; (Potential).might get lost (downstream of altered splice site)
389408TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
409432TRANSMEMHelical; Name=8; (Potential).might get lost (downstream of altered splice site)
433436TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
437460TRANSMEMHelical; Name=9; (Potential).might get lost (downstream of altered splice site)
461564TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
483543DOMAINKazal-like.might get lost (downstream of altered splice site)
489489DISULFIDBy similarity.might get lost (downstream of altered splice site)
493493DISULFIDBy similarity.might get lost (downstream of altered splice site)
495495DISULFIDBy similarity.might get lost (downstream of altered splice site)
504504DISULFIDBy similarity.might get lost (downstream of altered splice site)
516516DISULFIDBy similarity.might get lost (downstream of altered splice site)
520520DISULFIDBy similarity.might get lost (downstream of altered splice site)
538538CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
565587TRANSMEMHelical; Name=10; (Potential).might get lost (downstream of altered splice site)
588596TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
597622TRANSMEMHelical; Name=11; (Potential).might get lost (downstream of altered splice site)
623655TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
656673TRANSMEMHelical; Name=12; (Potential).might get lost (downstream of altered splice site)
674709TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2130 / 2130
position (AA) of stopcodon in wt / mu AA sequence 710 / 710
position of stopcodon in wt / mu cDNA 2525 / 2525
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 396 / 396
chromosome 11
strand 1
last intron/exon boundary 2345
theoretical NMD boundary in CDS 1899
length of CDS 2130
coding sequence (CDS) position 935
cDNA position
(for ins/del: last normal base / first normal base)		 1330
gDNA position
(for ins/del: last normal base / first normal base)		 71970
chromosomal position
(for ins/del: last normal base / first normal base)		 74883577
original gDNA sequence snippet ACGTGAGCTTCAGTTTCGGCGAAAGGTCTTAGCAGTCACAG
altered gDNA sequence snippet ACGTGAGCTTCAGTTTCGGCAAAAGGTCTTAGCAGTCACAG
original cDNA sequence snippet ACGTGAGCTTCAGTTTCGGCGAAAGGTCTTAGCAGTCACAG
altered cDNA sequence snippet ACGTGAGCTTCAGTTTCGGCAAAAGGTCTTAGCAGTCACAG
wildtype AA sequence MGPRIGPAGE VPQVPDKETK ATMGTENTPG GKASPDPQDV RPSVFHNIKL FVLCHSLLQL
AQLMISGYLK SSISTVEKRF GLSSQTSGLL ASFNEVGNTA LIVFVSYFGS RVHRPRMIGY
GAILVALAGL LMTLPHFISE PYRYDNTSPE DMPQDFKASL CLPTTSAPAS APSNGNCSSY
TETQHLSVVG IMFVAQTLLG VGGVPIQPFG ISYIDDFAHN SNSPLYLGIL FAVTMMGPGL
AFGLGSLMLR LYVDINQMPE GGISLTIKDP RWVGAWWLGF LIAAGAVALA AIPYFFFPKE
MPKEKRELQF RRKVLAVTDS PARKGKDSPS KQSPGESTKK QDGLVQIAPN LTVIQFIKVF
PRVLLQTLRH PIFLLVVLSQ VCLSSMAAGM AIFLPKFLER QFSITASYAN LLIGCLSFPS
VIVGIVVGGV LVKRLHLGPV GCGALCLLGM LLCLFFSLPL FFIGCSSHQI AGITHQTSAH
PGLELSPSCM EACSCPLDGF NPVCDPSTRV EYITPCHAGC SSWVVQDALD NSQVFYTNCS
CVVEGNPVLA GSCDSTCSHL VVPFLLLVSL GSALACLTHT PSFMLILRGV KKEDKTLAVG
IQFMFLRILA WMPSPVIHGS AIDTTCVHWA LSCGRRAVCR YYNNDLLRNR FIGLQFFFKT
GSVICFALVL AVLRQQDKEA RTKESRSSPA VEQQLLVSGP GKKPEDSRV*
mutated AA sequence MGPRIGPAGE VPQVPDKETK ATMGTENTPG GKASPDPQDV RPSVFHNIKL FVLCHSLLQL
AQLMISGYLK SSISTVEKRF GLSSQTSGLL ASFNEVGNTA LIVFVSYFGS RVHRPRMIGY
GAILVALAGL LMTLPHFISE PYRYDNTSPE DMPQDFKASL CLPTTSAPAS APSNGNCSSY
TETQHLSVVG IMFVAQTLLG VGGVPIQPFG ISYIDDFAHN SNSPLYLGIL FAVTMMGPGL
AFGLGSLMLR LYVDINQMPE GGISLTIKDP RWVGAWWLGF LIAAGAVALA AIPYFFFPKE
MPKEKRELQF RQKVLAVTDS PARKGKDSPS KQSPGESTKK QDGLVQIAPN LTVIQFIKVF
PRVLLQTLRH PIFLLVVLSQ VCLSSMAAGM AIFLPKFLER QFSITASYAN LLIGCLSFPS
VIVGIVVGGV LVKRLHLGPV GCGALCLLGM LLCLFFSLPL FFIGCSSHQI AGITHQTSAH
PGLELSPSCM EACSCPLDGF NPVCDPSTRV EYITPCHAGC SSWVVQDALD NSQVFYTNCS
CVVEGNPVLA GSCDSTCSHL VVPFLLLVSL GSALACLTHT PSFMLILRGV KKEDKTLAVG
IQFMFLRILA WMPSPVIHGS AIDTTCVHWA LSCGRRAVCR YYNNDLLRNR FIGLQFFFKT
GSVICFALVL AVLRQQDKEA RTKESRSSPA VEQQLLVSGP GKKPEDSRV*
speed 0.52 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: 0.99999999927981 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM0911238)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr11:74883577G>AN/A show variant in all transcripts   IGV
HGNC symbol SLCO2B1
Ensembl transcript ID ENST00000525650
Genbank transcript ID NM_001145212
UniProt peptide O94956
alteration type single base exchange
alteration region CDS
DNA changes c.503G>A
cDNA.770G>A
g.71970G>A
AA changes R168Q Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 168
frameshift no
known variant Reference ID: rs12422149
databasehomozygous (A/A)heterozygousallele carriers
1000G160731891
ExAC26921563918331

known disease mutation at this position, please check HGMD for details (HGMD ID CM0911238)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.010
-0.3340
(flanking)0.0290.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased71967wt: 0.9567 / mu: 0.9589 (marginal change - not scored)wt: GTTTCGGCGAAAGGT
mu: GTTTCGGCAAAAGGT		 TTCG|gcga
Donor marginally increased71968wt: 0.9646 / mu: 0.9783 (marginal change - not scored)wt: TTTCGGCGAAAGGTC
mu: TTTCGGCAAAAGGTC		 TCGG|cgaa
Donor gained719660.69mu: AGTTTCGGCAAAAGG TTTC|ggca
distance from splice site 38
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      168MPKEKRELQFRRKVLAVTDSPARK
mutated  all conserved    168MPKEKRELQFRQKVLAVTDSPAR
Ptroglodytes  all identical  ENSPTRG00000004078  312MPKEKRELQFRRKVLAVTDSPAR
Mmulatta  all identical  ENSMMUG00000009126  312MPKEKHELQFRRKVLAVTDSPAR
Fcatus  all identical  ENSFCAG00000011940  314MPKEKQELRFWRKVLTVSDSPVS
Mmusculus  all identical  ENSMUSG00000030737  314MPKEKHEFHFRRKVLASAASTAS
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000054609  281MSKEE-----------IEEAPV-
Dmelanogaster  all conserved  FBgn0036732  447LRGKQKPPGQTATPA-
Celegans  not conserved  Y32F6B.1  348DDD----------
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
141185TOPO_DOMExtracellular (Potential).lost
176176CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
186215TRANSMEMHelical; Name=4; (Potential).might get lost (downstream of altered splice site)
215215CONFLICTD -> V (in Ref. 6).might get lost (downstream of altered splice site)
216234TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
235255TRANSMEMHelical; Name=5; (Potential).might get lost (downstream of altered splice site)
256273TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
274298TRANSMEMHelical; Name=6; (Potential).might get lost (downstream of altered splice site)
299366TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
367388TRANSMEMHelical; Name=7; (Potential).might get lost (downstream of altered splice site)
389408TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
409432TRANSMEMHelical; Name=8; (Potential).might get lost (downstream of altered splice site)
433436TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
437460TRANSMEMHelical; Name=9; (Potential).might get lost (downstream of altered splice site)
461564TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
483543DOMAINKazal-like.might get lost (downstream of altered splice site)
489489DISULFIDBy similarity.might get lost (downstream of altered splice site)
493493DISULFIDBy similarity.might get lost (downstream of altered splice site)
495495DISULFIDBy similarity.might get lost (downstream of altered splice site)
504504DISULFIDBy similarity.might get lost (downstream of altered splice site)
516516DISULFIDBy similarity.might get lost (downstream of altered splice site)
520520DISULFIDBy similarity.might get lost (downstream of altered splice site)
538538CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
565587TRANSMEMHelical; Name=10; (Potential).might get lost (downstream of altered splice site)
588596TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
597622TRANSMEMHelical; Name=11; (Potential).might get lost (downstream of altered splice site)
623655TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
656673TRANSMEMHelical; Name=12; (Potential).might get lost (downstream of altered splice site)
674709TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1698 / 1698
position (AA) of stopcodon in wt / mu AA sequence 566 / 566
position of stopcodon in wt / mu cDNA 1965 / 1965
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 268 / 268
chromosome 11
strand 1
last intron/exon boundary 1785
theoretical NMD boundary in CDS 1467
length of CDS 1698
coding sequence (CDS) position 503
cDNA position
(for ins/del: last normal base / first normal base)		 770
gDNA position
(for ins/del: last normal base / first normal base)		 71970
chromosomal position
(for ins/del: last normal base / first normal base)		 74883577
original gDNA sequence snippet ACGTGAGCTTCAGTTTCGGCGAAAGGTCTTAGCAGTCACAG
altered gDNA sequence snippet ACGTGAGCTTCAGTTTCGGCAAAAGGTCTTAGCAGTCACAG
original cDNA sequence snippet ACGTGAGCTTCAGTTTCGGCGAAAGGTCTTAGCAGTCACAG
altered cDNA sequence snippet ACGTGAGCTTCAGTTTCGGCAAAAGGTCTTAGCAGTCACAG
wildtype AA sequence MGPRIEDMPQ DFKASLCLPT TSAPASAPSN GNCSSYTETQ HLSVVGIMFV AQTLLGVGGV
PIQPFGISYI DDFAHNSNSP LYLGILFAVT MMGPGLAFGL GSLMLRLYVD INQMPEGGIS
LTIKDPRWVG AWWLGFLIAA GAVALAAIPY FFFPKEMPKE KRELQFRRKV LAVTDSPARK
GKDSPSKQSP GESTKKQDGL VQIAPNLTVI QFIKVFPRVL LQTLRHPIFL LVVLSQVCLS
SMAAGMAIFL PKFLERQFSI TASYANLLIG CLSFPSVIVG IVVGGVLVKR LHLGPVGCGA
LCLLGMLLCL FFSLPLFFIG CSSHQIAGIT HQTSAHPGLE LSPSCMEACS CPLDGFNPVC
DPSTRVEYIT PCHAGCSSWV VQDALDNSQV FYTNCSCVVE GNPVLAGSCD STCSHLVVPF
LLLVSLGSAL ACLTHTPSFM LILRGVKKED KTLAVGIQFM FLRILAWMPS PVIHGSAIDT
TCVHWALSCG RRAVCRYYNN DLLRNRFIGL QFFFKTGSVI CFALVLAVLR QQDKEARTKE
SRSSPAVEQQ LLVSGPGKKP EDSRV*
mutated AA sequence MGPRIEDMPQ DFKASLCLPT TSAPASAPSN GNCSSYTETQ HLSVVGIMFV AQTLLGVGGV
PIQPFGISYI DDFAHNSNSP LYLGILFAVT MMGPGLAFGL GSLMLRLYVD INQMPEGGIS
LTIKDPRWVG AWWLGFLIAA GAVALAAIPY FFFPKEMPKE KRELQFRQKV LAVTDSPARK
GKDSPSKQSP GESTKKQDGL VQIAPNLTVI QFIKVFPRVL LQTLRHPIFL LVVLSQVCLS
SMAAGMAIFL PKFLERQFSI TASYANLLIG CLSFPSVIVG IVVGGVLVKR LHLGPVGCGA
LCLLGMLLCL FFSLPLFFIG CSSHQIAGIT HQTSAHPGLE LSPSCMEACS CPLDGFNPVC
DPSTRVEYIT PCHAGCSSWV VQDALDNSQV FYTNCSCVVE GNPVLAGSCD STCSHLVVPF
LLLVSLGSAL ACLTHTPSFM LILRGVKKED KTLAVGIQFM FLRILAWMPS PVIHGSAIDT
TCVHWALSCG RRAVCRYYNN DLLRNRFIGL QFFFKTGSVI CFALVLAVLR QQDKEARTKE
SRSSPAVEQQ LLVSGPGKKP EDSRV*
speed 0.61 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: 0.99999999927981 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM0911238)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr11:74883577G>AN/A show variant in all transcripts   IGV
HGNC symbol SLCO2B1
Ensembl transcript ID ENST00000454962
Genbank transcript ID N/A
UniProt peptide O94956
alteration type single base exchange
alteration region CDS
DNA changes c.254G>A
cDNA.502G>A
g.71970G>A
AA changes R85Q Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 85
frameshift no
known variant Reference ID: rs12422149
databasehomozygous (A/A)heterozygousallele carriers
1000G160731891
ExAC26921563918331

known disease mutation at this position, please check HGMD for details (HGMD ID CM0911238)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.010
-0.3340
(flanking)0.0290.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased71967wt: 0.9567 / mu: 0.9589 (marginal change - not scored)wt: GTTTCGGCGAAAGGT
mu: GTTTCGGCAAAAGGT		 TTCG|gcga
Donor marginally increased71968wt: 0.9646 / mu: 0.9783 (marginal change - not scored)wt: TTTCGGCGAAAGGTC
mu: TTTCGGCAAAAGGTC		 TCGG|cgaa
Donor gained719660.69mu: AGTTTCGGCAAAAGG TTTC|ggca
distance from splice site 38
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      85MPKEKRELQFRRKVLAVTDSPARK
mutated  all conserved    85MPKEKRELQFRQKVLAVTDSPAR
Ptroglodytes  all identical  ENSPTRG00000004078  312MPKEKRELQFRRKVLAVTDSPAR
Mmulatta  all identical  ENSMMUG00000009126  312MPKEKHELQFRRKVLAVTDSPAR
Fcatus  all identical  ENSFCAG00000011940  314MPKEKQELRFWRKVLTVSDSPVS
Mmusculus  all identical  ENSMUSG00000030737  314MPKEKHEFHFRRKVL
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000054609  281MSKEEIE-----------EAPVE
Dmelanogaster  all conserved  FBgn0036732  456-------LRGKQKP
Celegans  not conserved  Y32F6B.1  348DLDINAPEEFDDD----------
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
7088TOPO_DOMExtracellular (Potential).lost
89109TRANSMEMHelical; Name=2; (Potential).might get lost (downstream of altered splice site)
110115TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
116140TRANSMEMHelical; Name=3; (Potential).might get lost (downstream of altered splice site)
141185TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
176176CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
186215TRANSMEMHelical; Name=4; (Potential).might get lost (downstream of altered splice site)
215215CONFLICTD -> V (in Ref. 6).might get lost (downstream of altered splice site)
216234TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
235255TRANSMEMHelical; Name=5; (Potential).might get lost (downstream of altered splice site)
256273TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
274298TRANSMEMHelical; Name=6; (Potential).might get lost (downstream of altered splice site)
299366TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
367388TRANSMEMHelical; Name=7; (Potential).might get lost (downstream of altered splice site)
389408TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
409432TRANSMEMHelical; Name=8; (Potential).might get lost (downstream of altered splice site)
433436TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
437460TRANSMEMHelical; Name=9; (Potential).might get lost (downstream of altered splice site)
461564TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
483543DOMAINKazal-like.might get lost (downstream of altered splice site)
489489DISULFIDBy similarity.might get lost (downstream of altered splice site)
493493DISULFIDBy similarity.might get lost (downstream of altered splice site)
495495DISULFIDBy similarity.might get lost (downstream of altered splice site)
504504DISULFIDBy similarity.might get lost (downstream of altered splice site)
516516DISULFIDBy similarity.might get lost (downstream of altered splice site)
520520DISULFIDBy similarity.might get lost (downstream of altered splice site)
538538CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
565587TRANSMEMHelical; Name=10; (Potential).might get lost (downstream of altered splice site)
588596TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
597622TRANSMEMHelical; Name=11; (Potential).might get lost (downstream of altered splice site)
623655TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
656673TRANSMEMHelical; Name=12; (Potential).might get lost (downstream of altered splice site)
674709TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1449 / 1449
position (AA) of stopcodon in wt / mu AA sequence 483 / 483
position of stopcodon in wt / mu cDNA 1697 / 1697
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 249 / 249
chromosome 11
strand 1
last intron/exon boundary 1517
theoretical NMD boundary in CDS 1218
length of CDS 1449
coding sequence (CDS) position 254
cDNA position
(for ins/del: last normal base / first normal base)		 502
gDNA position
(for ins/del: last normal base / first normal base)		 71970
chromosomal position
(for ins/del: last normal base / first normal base)		 74883577
original gDNA sequence snippet ACGTGAGCTTCAGTTTCGGCGAAAGGTCTTAGCAGTCACAG
altered gDNA sequence snippet ACGTGAGCTTCAGTTTCGGCAAAAGGTCTTAGCAGTCACAG
original cDNA sequence snippet ACGTGAGCTTCAGTTTCGGCGAAAGGTCTTAGCAGTCACAG
altered cDNA sequence snippet ACGTGAGCTTCAGTTTCGGCAAAAGGTCTTAGCAGTCACAG
wildtype AA sequence MIGYGAILVA LAGLLMTLPH FISEPYRYDN TSPGGISLTI KDPRWVGAWW LGFLIAAGAV
ALAAIPYFFF PKEMPKEKRE LQFRRKVLAV TDSPARKGKD SPSKQSPGES TKKQDGLVQI
APNLTVIQFI KVFPRVLLQT LRHPIFLLVV LSQVCLSSMA AGMAIFLPKF LERQFSITAS
YANLLIGCLS FPSVIVGIVV GGVLVKRLHL GPVGCGALCL LGMLLCLFFS LPLFFIGCSS
HQIAGITHQT SAHPGLELSP SCMEACSCPL DGFNPVCDPS TRVEYITPCH AGCSSWVVQD
ALDNSQVFYT NCSCVVEGNP VLAGSCDSTC SHLVVPFLLL VSLGSALACL THTPSFMLIL
RGVKKEDKTL AVGIQFMFLR ILAWMPSPVI HGSAIDTTCV HWALSCGRRA VCRYYNNDLL
RNRFIGLQFF FKTGSVICFA LVLAVLRQQD KEARTKESRS SPAVEQQLLV SGPGKKPEDS
RV*
mutated AA sequence MIGYGAILVA LAGLLMTLPH FISEPYRYDN TSPGGISLTI KDPRWVGAWW LGFLIAAGAV
ALAAIPYFFF PKEMPKEKRE LQFRQKVLAV TDSPARKGKD SPSKQSPGES TKKQDGLVQI
APNLTVIQFI KVFPRVLLQT LRHPIFLLVV LSQVCLSSMA AGMAIFLPKF LERQFSITAS
YANLLIGCLS FPSVIVGIVV GGVLVKRLHL GPVGCGALCL LGMLLCLFFS LPLFFIGCSS
HQIAGITHQT SAHPGLELSP SCMEACSCPL DGFNPVCDPS TRVEYITPCH AGCSSWVVQD
ALDNSQVFYT NCSCVVEGNP VLAGSCDSTC SHLVVPFLLL VSLGSALACL THTPSFMLIL
RGVKKEDKTL AVGIQFMFLR ILAWMPSPVI HGSAIDTTCV HWALSCGRRA VCRYYNNDLL
RNRFIGLQFF FKTGSVICFA LVLAVLRQQD KEARTKESRS SPAVEQQLLV SGPGKKPEDS
RV*
speed 0.64 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.99999999927981 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM0911238)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr11:74883577G>AN/A show variant in all transcripts   IGV
HGNC symbol SLCO2B1
Ensembl transcript ID ENST00000341411
Genbank transcript ID N/A
UniProt peptide O94956
alteration type single base exchange
alteration region CDS
DNA changes c.254G>A
cDNA.989G>A
g.71970G>A
AA changes R85Q Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 85
frameshift no
known variant Reference ID: rs12422149
databasehomozygous (A/A)heterozygousallele carriers
1000G160731891
ExAC26921563918331

known disease mutation at this position, please check HGMD for details (HGMD ID CM0911238)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.010
-0.3340
(flanking)0.0290.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased71967wt: 0.9567 / mu: 0.9589 (marginal change - not scored)wt: GTTTCGGCGAAAGGT
mu: GTTTCGGCAAAAGGT		 TTCG|gcga
Donor marginally increased71968wt: 0.9646 / mu: 0.9783 (marginal change - not scored)wt: TTTCGGCGAAAGGTC
mu: TTTCGGCAAAAGGTC		 TCGG|cgaa
Donor gained719660.69mu: AGTTTCGGCAAAAGG TTTC|ggca
distance from splice site 38
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      85MPKEKRELQFRRKVLAVTDSPARK
mutated  all conserved    85MPKEKRELQFRQKVLAVTDSPAR
Ptroglodytes  all identical  ENSPTRG00000004078  312MPKEKRELQFRRKVLAVTDSPAR
Mmulatta  all identical  ENSMMUG00000009126  312MPKEKHELQFRRKVLAVTDSPAR
Fcatus  all identical  ENSFCAG00000011940  314MPKEKQELRFWRKVLTVSDSPVS
Mmusculus  all identical  ENSMUSG00000030737  314MPKEKHEFHFRRKVL
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000054609  281MSKEEIE-----------EAPVE
Dmelanogaster  all conserved  FBgn0036732  456-------LRGKQKP
Celegans  not conserved  Y32F6B.1  348DLDINAPEEFDDD----------
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
7088TOPO_DOMExtracellular (Potential).lost
89109TRANSMEMHelical; Name=2; (Potential).might get lost (downstream of altered splice site)
110115TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
116140TRANSMEMHelical; Name=3; (Potential).might get lost (downstream of altered splice site)
141185TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
176176CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
186215TRANSMEMHelical; Name=4; (Potential).might get lost (downstream of altered splice site)
215215CONFLICTD -> V (in Ref. 6).might get lost (downstream of altered splice site)
216234TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
235255TRANSMEMHelical; Name=5; (Potential).might get lost (downstream of altered splice site)
256273TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
274298TRANSMEMHelical; Name=6; (Potential).might get lost (downstream of altered splice site)
299366TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
367388TRANSMEMHelical; Name=7; (Potential).might get lost (downstream of altered splice site)
389408TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
409432TRANSMEMHelical; Name=8; (Potential).might get lost (downstream of altered splice site)
433436TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
437460TRANSMEMHelical; Name=9; (Potential).might get lost (downstream of altered splice site)
461564TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
483543DOMAINKazal-like.might get lost (downstream of altered splice site)
489489DISULFIDBy similarity.might get lost (downstream of altered splice site)
493493DISULFIDBy similarity.might get lost (downstream of altered splice site)
495495DISULFIDBy similarity.might get lost (downstream of altered splice site)
504504DISULFIDBy similarity.might get lost (downstream of altered splice site)
516516DISULFIDBy similarity.might get lost (downstream of altered splice site)
520520DISULFIDBy similarity.might get lost (downstream of altered splice site)
538538CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
565587TRANSMEMHelical; Name=10; (Potential).might get lost (downstream of altered splice site)
588596TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
597622TRANSMEMHelical; Name=11; (Potential).might get lost (downstream of altered splice site)
623655TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
656673TRANSMEMHelical; Name=12; (Potential).might get lost (downstream of altered splice site)
674709TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1449 / 1449
position (AA) of stopcodon in wt / mu AA sequence 483 / 483
position of stopcodon in wt / mu cDNA 2184 / 2184
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 736 / 736
chromosome 11
strand 1
last intron/exon boundary 2004
theoretical NMD boundary in CDS 1218
length of CDS 1449
coding sequence (CDS) position 254
cDNA position
(for ins/del: last normal base / first normal base)		 989
gDNA position
(for ins/del: last normal base / first normal base)		 71970
chromosomal position
(for ins/del: last normal base / first normal base)		 74883577
original gDNA sequence snippet ACGTGAGCTTCAGTTTCGGCGAAAGGTCTTAGCAGTCACAG
altered gDNA sequence snippet ACGTGAGCTTCAGTTTCGGCAAAAGGTCTTAGCAGTCACAG
original cDNA sequence snippet ACGTGAGCTTCAGTTTCGGCGAAAGGTCTTAGCAGTCACAG
altered cDNA sequence snippet ACGTGAGCTTCAGTTTCGGCAAAAGGTCTTAGCAGTCACAG
wildtype AA sequence MIGYGAILVA LAGLLMTLPH FISEPYRYDN TSPGGISLTI KDPRWVGAWW LGFLIAAGAV
ALAAIPYFFF PKEMPKEKRE LQFRRKVLAV TDSPARKGKD SPSKQSPGES TKKQDGLVQI
APNLTVIQFI KVFPRVLLQT LRHPIFLLVV LSQVCLSSMA AGMAIFLPKF LERQFSITAS
YANLLIGCLS FPSVIVGIVV GGVLVKRLHL GPVGCGALCL LGMLLCLFFS LPLFFIGCSS
HQIAGITHQT SAHPGLELSP SCMEACSCPL DGFNPVCDPS TRVEYITPCH AGCSSWVVQD
ALDNSQVFYT NCSCVVEGNP VLAGSCDSTC SHLVVPFLLL VSLGSALACL THTPSFMLIL
RGVKKEDKTL AVGIQFMFLR ILAWMPSPVI HGSAIDTTCV HWALSCGRRA VCRYYNNDLL
RNRFIGLQFF FKTGSVICFA LVLAVLRQQD KEARTKESRS SPAVEQQLLV SGPGKKPEDS
RV*
mutated AA sequence MIGYGAILVA LAGLLMTLPH FISEPYRYDN TSPGGISLTI KDPRWVGAWW LGFLIAAGAV
ALAAIPYFFF PKEMPKEKRE LQFRQKVLAV TDSPARKGKD SPSKQSPGES TKKQDGLVQI
APNLTVIQFI KVFPRVLLQT LRHPIFLLVV LSQVCLSSMA AGMAIFLPKF LERQFSITAS
YANLLIGCLS FPSVIVGIVV GGVLVKRLHL GPVGCGALCL LGMLLCLFFS LPLFFIGCSS
HQIAGITHQT SAHPGLELSP SCMEACSCPL DGFNPVCDPS TRVEYITPCH AGCSSWVVQD
ALDNSQVFYT NCSCVVEGNP VLAGSCDSTC SHLVVPFLLL VSLGSALACL THTPSFMLIL
RGVKKEDKTL AVGIQFMFLR ILAWMPSPVI HGSAIDTTCV HWALSCGRRA VCRYYNNDLL
RNRFIGLQFF FKTGSVICFA LVLAVLRQQD KEARTKESRS SPAVEQQLLV SGPGKKPEDS
RV*
speed 0.98 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999998731953 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM0911238)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr11:74883577G>AN/A show variant in all transcripts   IGV
HGNC symbol SLCO2B1
Ensembl transcript ID ENST00000532236
Genbank transcript ID N/A
UniProt peptide O94956
alteration type single base exchange
alteration region CDS
DNA changes c.587G>A
cDNA.987G>A
g.71970G>A
AA changes R196Q Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 196
frameshift no
known variant Reference ID: rs12422149
databasehomozygous (A/A)heterozygousallele carriers
1000G160731891
ExAC26921563918331

known disease mutation at this position, please check HGMD for details (HGMD ID CM0911238)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.010
-0.3340
(flanking)0.0290.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased71967wt: 0.9567 / mu: 0.9589 (marginal change - not scored)wt: GTTTCGGCGAAAGGT
mu: GTTTCGGCAAAAGGT		 TTCG|gcga
Donor marginally increased71968wt: 0.9646 / mu: 0.9783 (marginal change - not scored)wt: TTTCGGCGAAAGGTC
mu: TTTCGGCAAAAGGTC		 TCGG|cgaa
Donor gained719660.69mu: AGTTTCGGCAAAAGG TTTC|ggca
distance from splice site 38
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      196MPKEKRELQFRRKVLAVTDSPARK
mutated  all conserved    196MPKEKRELQFRQKVLAVTDSPAR
Ptroglodytes  all identical  ENSPTRG00000004078  312MPKEKRELQFRRKVLAVTDSPAR
Mmulatta  all identical  ENSMMUG00000009126  312MPKEKHELQFRRKVLAVTDSPAR
Fcatus  all identical  ENSFCAG00000011940  314MPKEKQELRFWRKVLTVSDSPVS
Mmusculus  all identical  ENSMUSG00000030737  314MPKEKHEFHFRRKVLASAASTAS
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000054609  281MSKEE-----------IEEAPV-
Dmelanogaster  all conserved  FBgn0036732  454-------LRGKQKPPGQTATPA-
Celegans  not conserved  Y32F6B.1  348DDD----------
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
186215TRANSMEMHelical; Name=4; (Potential).lost
215215CONFLICTD -> V (in Ref. 6).might get lost (downstream of altered splice site)
216234TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
235255TRANSMEMHelical; Name=5; (Potential).might get lost (downstream of altered splice site)
256273TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
274298TRANSMEMHelical; Name=6; (Potential).might get lost (downstream of altered splice site)
299366TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
367388TRANSMEMHelical; Name=7; (Potential).might get lost (downstream of altered splice site)
389408TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
409432TRANSMEMHelical; Name=8; (Potential).might get lost (downstream of altered splice site)
433436TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
437460TRANSMEMHelical; Name=9; (Potential).might get lost (downstream of altered splice site)
461564TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
483543DOMAINKazal-like.might get lost (downstream of altered splice site)
489489DISULFIDBy similarity.might get lost (downstream of altered splice site)
493493DISULFIDBy similarity.might get lost (downstream of altered splice site)
495495DISULFIDBy similarity.might get lost (downstream of altered splice site)
504504DISULFIDBy similarity.might get lost (downstream of altered splice site)
516516DISULFIDBy similarity.might get lost (downstream of altered splice site)
520520DISULFIDBy similarity.might get lost (downstream of altered splice site)
538538CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
565587TRANSMEMHelical; Name=10; (Potential).might get lost (downstream of altered splice site)
588596TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
597622TRANSMEMHelical; Name=11; (Potential).might get lost (downstream of altered splice site)
623655TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
656673TRANSMEMHelical; Name=12; (Potential).might get lost (downstream of altered splice site)
674709TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1782 / 1782
position (AA) of stopcodon in wt / mu AA sequence 594 / 594
position of stopcodon in wt / mu cDNA 2182 / 2182
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 401 / 401
chromosome 11
strand 1
last intron/exon boundary 2002
theoretical NMD boundary in CDS 1551
length of CDS 1782
coding sequence (CDS) position 587
cDNA position
(for ins/del: last normal base / first normal base)		 987
gDNA position
(for ins/del: last normal base / first normal base)		 71970
chromosomal position
(for ins/del: last normal base / first normal base)		 74883577
original gDNA sequence snippet ACGTGAGCTTCAGTTTCGGCGAAAGGTCTTAGCAGTCACAG
altered gDNA sequence snippet ACGTGAGCTTCAGTTTCGGCAAAAGGTCTTAGCAGTCACAG
original cDNA sequence snippet ACGTGAGCTTCAGTTTCGGCGAAAGGTCTTAGCAGTCACAG
altered cDNA sequence snippet ACGTGAGCTTCAGTTTCGGCAAAAGGTCTTAGCAGTCACAG
wildtype AA sequence MIGYGAILVA LAGLLMTLPH FISEPYRYDN TSPEDMPQDF KASLCLPTTS APASAPSNGN
CSSYTETQHL SVVGIMFVAQ TLLGVGGVPI QPFGISYIDD FAHNSNSPLY LGILFAVTMM
GPGLAFGLGS LMLRLYVDIN QMPEGGISLT IKDPRWVGAW WLGFLIAAGA VALAAIPYFF
FPKEMPKEKR ELQFRRKVLA VTDSPARKGK DSPSKQSPGE STKKQDGLVQ IAPNLTVIQF
IKVFPRVLLQ TLRHPIFLLV VLSQVCLSSM AAGMAIFLPK FLERQFSITA SYANLLIGCL
SFPSVIVGIV VGGVLVKRLH LGPVGCGALC LLGMLLCLFF SLPLFFIGCS SHQIAGITHQ
TSAHPGLELS PSCMEACSCP LDGFNPVCDP STRVEYITPC HAGCSSWVVQ DALDNSQVFY
TNCSCVVEGN PVLAGSCDST CSHLVVPFLL LVSLGSALAC LTHTPSFMLI LRGVKKEDKT
LAVGIQFMFL RILAWMPSPV IHGSAIDTTC VHWALSCGRR AVCRYYNNDL LRNRFIGLQF
FFKTGSVICF ALVLAVLRQQ DKEARTKESR SSPAVEQQLL VSGPGKKPED SRV*
mutated AA sequence MIGYGAILVA LAGLLMTLPH FISEPYRYDN TSPEDMPQDF KASLCLPTTS APASAPSNGN
CSSYTETQHL SVVGIMFVAQ TLLGVGGVPI QPFGISYIDD FAHNSNSPLY LGILFAVTMM
GPGLAFGLGS LMLRLYVDIN QMPEGGISLT IKDPRWVGAW WLGFLIAAGA VALAAIPYFF
FPKEMPKEKR ELQFRQKVLA VTDSPARKGK DSPSKQSPGE STKKQDGLVQ IAPNLTVIQF
IKVFPRVLLQ TLRHPIFLLV VLSQVCLSSM AAGMAIFLPK FLERQFSITA SYANLLIGCL
SFPSVIVGIV VGGVLVKRLH LGPVGCGALC LLGMLLCLFF SLPLFFIGCS SHQIAGITHQ
TSAHPGLELS PSCMEACSCP LDGFNPVCDP STRVEYITPC HAGCSSWVVQ DALDNSQVFY
TNCSCVVEGN PVLAGSCDST CSHLVVPFLL LVSLGSALAC LTHTPSFMLI LRGVKKEDKT
LAVGIQFMFL RILAWMPSPV IHGSAIDTTC VHWALSCGRR AVCRYYNNDL LRNRFIGLQF
FFKTGSVICF ALVLAVLRQQ DKEARTKESR SSPAVEQQLL VSGPGKKPED SRV*
speed 0.61 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: 0.999999998731953 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM0911238)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr11:74883577G>AN/A show variant in all transcripts   IGV
HGNC symbol SLCO2B1
Ensembl transcript ID ENST00000531756
Genbank transcript ID N/A
UniProt peptide O94956
alteration type single base exchange
alteration region CDS
DNA changes c.170G>A
cDNA.482G>A
g.71970G>A
AA changes R57Q Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 57
frameshift no
known variant Reference ID: rs12422149
databasehomozygous (A/A)heterozygousallele carriers
1000G160731891
ExAC26921563918331

known disease mutation at this position, please check HGMD for details (HGMD ID CM0911238)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.010
-0.3340
(flanking)0.0290.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased71967wt: 0.9567 / mu: 0.9589 (marginal change - not scored)wt: GTTTCGGCGAAAGGT
mu: GTTTCGGCAAAAGGT		 TTCG|gcga
Donor marginally increased71968wt: 0.9646 / mu: 0.9783 (marginal change - not scored)wt: TTTCGGCGAAAGGTC
mu: TTTCGGCAAAAGGTC		 TCGG|cgaa
Donor gained719660.69mu: AGTTTCGGCAAAAGG TTTC|ggca
distance from splice site 38
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      57MPKEKRELQFRRKVLAVTDSPARK
mutated  all conserved    57MPKEKRELQFRQKVL
Ptroglodytes  all identical  ENSPTRG00000004078  312MPKEKRELQFRRKVLAVTDS
Mmulatta  all identical  ENSMMUG00000009126  312MPKEKHELQFRRKVLAVTDS
Fcatus  all identical  ENSFCAG00000011940  314MPKEKQELRFWRKVLTVSDS
Mmusculus  all identical  ENSMUSG00000030737  314MPKEKHEFHFRRKVLASAAS
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000054609  281MSKEEIE-----------EAPVE
Dmelanogaster  all conserved  FBgn0036732  454------QLRGKQKPPGQTATPA-
Celegans  not conserved  Y32F6B.1  348DLDINAPEEF-----------DD
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
5069TRANSMEMHelical; Name=1; (Potential).lost
7088TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
89109TRANSMEMHelical; Name=2; (Potential).might get lost (downstream of altered splice site)
110115TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
116140TRANSMEMHelical; Name=3; (Potential).might get lost (downstream of altered splice site)
141185TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
176176CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
186215TRANSMEMHelical; Name=4; (Potential).might get lost (downstream of altered splice site)
215215CONFLICTD -> V (in Ref. 6).might get lost (downstream of altered splice site)
216234TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
235255TRANSMEMHelical; Name=5; (Potential).might get lost (downstream of altered splice site)
256273TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
274298TRANSMEMHelical; Name=6; (Potential).might get lost (downstream of altered splice site)
299366TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
367388TRANSMEMHelical; Name=7; (Potential).might get lost (downstream of altered splice site)
389408TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
409432TRANSMEMHelical; Name=8; (Potential).might get lost (downstream of altered splice site)
433436TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
437460TRANSMEMHelical; Name=9; (Potential).might get lost (downstream of altered splice site)
461564TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
483543DOMAINKazal-like.might get lost (downstream of altered splice site)
489489DISULFIDBy similarity.might get lost (downstream of altered splice site)
493493DISULFIDBy similarity.might get lost (downstream of altered splice site)
495495DISULFIDBy similarity.might get lost (downstream of altered splice site)
504504DISULFIDBy similarity.might get lost (downstream of altered splice site)
516516DISULFIDBy similarity.might get lost (downstream of altered splice site)
520520DISULFIDBy similarity.might get lost (downstream of altered splice site)
538538CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
565587TRANSMEMHelical; Name=10; (Potential).might get lost (downstream of altered splice site)
588596TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
597622TRANSMEMHelical; Name=11; (Potential).might get lost (downstream of altered splice site)
623655TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
656673TRANSMEMHelical; Name=12; (Potential).might get lost (downstream of altered splice site)
674709TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1098 / 1098
position (AA) of stopcodon in wt / mu AA sequence 366 / 366
position of stopcodon in wt / mu cDNA 1410 / 1410
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 313 / 313
chromosome 11
strand 1
last intron/exon boundary 1311
theoretical NMD boundary in CDS 948
length of CDS 1098
coding sequence (CDS) position 170
cDNA position
(for ins/del: last normal base / first normal base)		 482
gDNA position
(for ins/del: last normal base / first normal base)		 71970
chromosomal position
(for ins/del: last normal base / first normal base)		 74883577
original gDNA sequence snippet ACGTGAGCTTCAGTTTCGGCGAAAGGTCTTAGCAGTCACAG
altered gDNA sequence snippet ACGTGAGCTTCAGTTTCGGCAAAAGGTCTTAGCAGTCACAG
original cDNA sequence snippet ACGTGAGCTTCAGTTTCGGCGAAAGGTCTTAGCAGTCACAG
altered cDNA sequence snippet ACGTGAGCTTCAGTTTCGGCAAAAGGTCTTAGCAGTCACAG
wildtype AA sequence MGPRIGGISL TIKDPRWVGA WWLGFLIAAG AVALAAIPYF FFPKEMPKEK RELQFRRKVL
AVTDSPARKG KDSPSKQSPG ESTKKQDGLV QIAPNLTVIQ FIKVFPRVLL QTLRHPIFLL
VVLSQVCLSS MAAGMAIFLP KFLERQFSIT ASYANLLIGC LSFPSVIVGI VVGGVLVKRL
HLGPVGCGAL CLLGMLLCLF FSLPLFFIGC SSHQIAGITH QTSAHPGLEL SPSCMEACSC
PLDGFNPVCD PSTRVEYITP CHAGCSSWVV QDALDNSQVF YTNCSCVVEG NPVLAGSCDS
TCSHLVVPFL LLVSLGSALA CLTHTPSFML ILRGVKKEDK TLAVGIQFMF LRILGKDLAW
DHWWW*
mutated AA sequence MGPRIGGISL TIKDPRWVGA WWLGFLIAAG AVALAAIPYF FFPKEMPKEK RELQFRQKVL
AVTDSPARKG KDSPSKQSPG ESTKKQDGLV QIAPNLTVIQ FIKVFPRVLL QTLRHPIFLL
VVLSQVCLSS MAAGMAIFLP KFLERQFSIT ASYANLLIGC LSFPSVIVGI VVGGVLVKRL
HLGPVGCGAL CLLGMLLCLF FSLPLFFIGC SSHQIAGITH QTSAHPGLEL SPSCMEACSC
PLDGFNPVCD PSTRVEYITP CHAGCSSWVV QDALDNSQVF YTNCSCVVEG NPVLAGSCDS
TCSHLVVPFL LLVSLGSALA CLTHTPSFML ILRGVKKEDK TLAVGIQFMF LRILGKDLAW
DHWWW*
speed 0.60 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
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Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999998731953 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM0911238)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr11:74883577G>AN/A show variant in all transcripts   IGV
HGNC symbol SLCO2B1
Ensembl transcript ID ENST00000428359
Genbank transcript ID NM_001145211
UniProt peptide O94956
alteration type single base exchange
alteration region CDS
DNA changes c.869G>A
cDNA.1036G>A
g.71970G>A
AA changes R290Q Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 290
frameshift no
known variant Reference ID: rs12422149
databasehomozygous (A/A)heterozygousallele carriers
1000G160731891
ExAC26921563918331

known disease mutation at this position, please check HGMD for details (HGMD ID CM0911238)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.010
-0.3340
(flanking)0.0290.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased71967wt: 0.9567 / mu: 0.9589 (marginal change - not scored)wt: GTTTCGGCGAAAGGT
mu: GTTTCGGCAAAAGGT		 TTCG|gcga
Donor marginally increased71968wt: 0.9646 / mu: 0.9783 (marginal change - not scored)wt: TTTCGGCGAAAGGTC
mu: TTTCGGCAAAAGGTC		 TCGG|cgaa
Donor gained719660.69mu: AGTTTCGGCAAAAGG TTTC|ggca
distance from splice site 38
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      290MPKEKRELQFRRKVLAVTDSPARK
mutated  all conserved    290MPKEKRELQFRQKVLAVTDSPA
Ptroglodytes  all identical  ENSPTRG00000004078  312MPKEKRELQFRRKVLAVTDSPA
Mmulatta  all identical  ENSMMUG00000009126  312MPKEKHELQFRRKVLAVTDSPA
Fcatus  all identical  ENSFCAG00000011940  314MPKEKQELRFWRKVLTVSDS
Mmusculus  all identical  ENSMUSG00000030737  314MPKEKHEFHFRRKVLAS
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000054609  281MSKEE-----------IEEAPV-
Dmelanogaster  all conserved  FBgn0036732  456------QLRGKQKPPGQTA
Celegans  not conserved  Y32F6B.1  348DDD----------
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
274298TRANSMEMHelical; Name=6; (Potential).lost
299366TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
367388TRANSMEMHelical; Name=7; (Potential).might get lost (downstream of altered splice site)
389408TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
409432TRANSMEMHelical; Name=8; (Potential).might get lost (downstream of altered splice site)
433436TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
437460TRANSMEMHelical; Name=9; (Potential).might get lost (downstream of altered splice site)
461564TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
483543DOMAINKazal-like.might get lost (downstream of altered splice site)
489489DISULFIDBy similarity.might get lost (downstream of altered splice site)
493493DISULFIDBy similarity.might get lost (downstream of altered splice site)
495495DISULFIDBy similarity.might get lost (downstream of altered splice site)
504504DISULFIDBy similarity.might get lost (downstream of altered splice site)
516516DISULFIDBy similarity.might get lost (downstream of altered splice site)
520520DISULFIDBy similarity.might get lost (downstream of altered splice site)
538538CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
565587TRANSMEMHelical; Name=10; (Potential).might get lost (downstream of altered splice site)
588596TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
597622TRANSMEMHelical; Name=11; (Potential).might get lost (downstream of altered splice site)
623655TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
656673TRANSMEMHelical; Name=12; (Potential).might get lost (downstream of altered splice site)
674709TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2064 / 2064
position (AA) of stopcodon in wt / mu AA sequence 688 / 688
position of stopcodon in wt / mu cDNA 2231 / 2231
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 168 / 168
chromosome 11
strand 1
last intron/exon boundary 2051
theoretical NMD boundary in CDS 1833
length of CDS 2064
coding sequence (CDS) position 869
cDNA position
(for ins/del: last normal base / first normal base)		 1036
gDNA position
(for ins/del: last normal base / first normal base)		 71970
chromosomal position
(for ins/del: last normal base / first normal base)		 74883577
original gDNA sequence snippet ACGTGAGCTTCAGTTTCGGCGAAAGGTCTTAGCAGTCACAG
altered gDNA sequence snippet ACGTGAGCTTCAGTTTCGGCAAAAGGTCTTAGCAGTCACAG
original cDNA sequence snippet ACGTGAGCTTCAGTTTCGGCGAAAGGTCTTAGCAGTCACAG
altered cDNA sequence snippet ACGTGAGCTTCAGTTTCGGCAAAAGGTCTTAGCAGTCACAG
wildtype AA sequence MGTENTPGGK ASPDPQDVRP SVFHNIKLFV LCHSLLQLAQ LMISGYLKSS ISTVEKRFGL
SSQTSGLLAS FNEVGNTALI VFVSYFGSRV HRPRMIGYGA ILVALAGLLM TLPHFISEPY
RYDNTSPEDM PQDFKASLCL PTTSAPASAP SNGNCSSYTE TQHLSVVGIM FVAQTLLGVG
GVPIQPFGIS YIDDFAHNSN SPLYLGILFA VTMMGPGLAF GLGSLMLRLY VDINQMPEGG
ISLTIKDPRW VGAWWLGFLI AAGAVALAAI PYFFFPKEMP KEKRELQFRR KVLAVTDSPA
RKGKDSPSKQ SPGESTKKQD GLVQIAPNLT VIQFIKVFPR VLLQTLRHPI FLLVVLSQVC
LSSMAAGMAI FLPKFLERQF SITASYANLL IGCLSFPSVI VGIVVGGVLV KRLHLGPVGC
GALCLLGMLL CLFFSLPLFF IGCSSHQIAG ITHQTSAHPG LELSPSCMEA CSCPLDGFNP
VCDPSTRVEY ITPCHAGCSS WVVQDALDNS QVFYTNCSCV VEGNPVLAGS CDSTCSHLVV
PFLLLVSLGS ALACLTHTPS FMLILRGVKK EDKTLAVGIQ FMFLRILAWM PSPVIHGSAI
DTTCVHWALS CGRRAVCRYY NNDLLRNRFI GLQFFFKTGS VICFALVLAV LRQQDKEART
KESRSSPAVE QQLLVSGPGK KPEDSRV*
mutated AA sequence MGTENTPGGK ASPDPQDVRP SVFHNIKLFV LCHSLLQLAQ LMISGYLKSS ISTVEKRFGL
SSQTSGLLAS FNEVGNTALI VFVSYFGSRV HRPRMIGYGA ILVALAGLLM TLPHFISEPY
RYDNTSPEDM PQDFKASLCL PTTSAPASAP SNGNCSSYTE TQHLSVVGIM FVAQTLLGVG
GVPIQPFGIS YIDDFAHNSN SPLYLGILFA VTMMGPGLAF GLGSLMLRLY VDINQMPEGG
ISLTIKDPRW VGAWWLGFLI AAGAVALAAI PYFFFPKEMP KEKRELQFRQ KVLAVTDSPA
RKGKDSPSKQ SPGESTKKQD GLVQIAPNLT VIQFIKVFPR VLLQTLRHPI FLLVVLSQVC
LSSMAAGMAI FLPKFLERQF SITASYANLL IGCLSFPSVI VGIVVGGVLV KRLHLGPVGC
GALCLLGMLL CLFFSLPLFF IGCSSHQIAG ITHQTSAHPG LELSPSCMEA CSCPLDGFNP
VCDPSTRVEY ITPCHAGCSS WVVQDALDNS QVFYTNCSCV VEGNPVLAGS CDSTCSHLVV
PFLLLVSLGS ALACLTHTPS FMLILRGVKK EDKTLAVGIQ FMFLRILAWM PSPVIHGSAI
DTTCVHWALS CGRRAVCRYY NNDLLRNRFI GLQFFFKTGS VICFALVLAV LRQQDKEART
KESRSSPAVE QQLLVSGPGK KPEDSRV*
speed 1.05 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
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Problems