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 0.92 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