Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999491806464504 (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) chr12:21015760G>AN/A show variant in all transcripts   IGV
HGNC symbol SLCO1B3
Ensembl transcript ID ENST00000553473
Genbank transcript ID N/A
UniProt peptide Q9NPD5
alteration type single base exchange
alteration region CDS
DNA changes c.699G>A
cDNA.699G>A
g.52125G>A
AA changes M233I Score: 10 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 233
frameshift no
known variant Reference ID: rs7311358
databasehomozygous (A/A)heterozygousallele carriers
1000G13598002159
ExAC---
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)4.0350.725
-0.2230.622
(flanking)2.5010.767
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased52120wt: 0.8913 / mu: 0.8949 (marginal change - not scored)wt: CACTGGGATCTCTGTTTGCTAAAATGTACGTGGATATTGGA
mu: CACTGGGATCTCTGTTTGCTAAAATATACGTGGATATTGGA		 gcta|AAAT
Donor increased52117wt: 0.64 / mu: 0.82wt: TGTTTGCTAAAATGT
mu: TGTTTGCTAAAATAT		 TTTG|ctaa
Donor increased52123wt: 0.71 / mu: 0.90wt: CTAAAATGTACGTGG
mu: CTAAAATATACGTGG		 AAAA|tgta
distance from splice site 29
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      233IGFALGSLFAKMYVDIGYVDLSTI
mutated  all conserved    233IGFALGSLFAKIYVDIGYV
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000020443  233IGFILGSLFAKMYVDIGYV
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000030236  228LGFIMSSVFAKLYVDVGYV
Ggallus  all conserved  ENSGALG00000019277  235CGFLLGSLCAKLYVDVGFVDLGK
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000012089  214TGFMLGSFLARLYVDIGFVDTDT
protein features
start (aa)end (aa)featuredetails 
217237TRANSMEMHelical; Name=5; (Potential).lost
238255TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
256280TRANSMEMHelical; Name=6; (Potential).might get lost (downstream of altered splice site)
281331TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
332353TRANSMEMHelical; Name=7; (Potential).might get lost (downstream of altered splice site)
354373TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
374397TRANSMEMHelical; Name=8; (Potential).might get lost (downstream of altered splice site)
398401TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
402425TRANSMEMHelical; Name=9; (Potential).might get lost (downstream of altered splice site)
426537TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
445445CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
453508DOMAINKazal-like.might get lost (downstream of altered splice site)
459459DISULFIDBy similarity.might get lost (downstream of altered splice site)
463463DISULFIDBy similarity.might get lost (downstream of altered splice site)
465465DISULFIDBy similarity.might get lost (downstream of altered splice site)
474474DISULFIDBy similarity.might get lost (downstream of altered splice site)
485485DISULFIDBy similarity.might get lost (downstream of altered splice site)
489489DISULFIDBy similarity.might get lost (downstream of altered splice site)
503503CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
516516CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
538560TRANSMEMHelical; Name=10; (Potential).might get lost (downstream of altered splice site)
561569TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
570595TRANSMEMHelical; Name=11; (Potential).might get lost (downstream of altered splice site)
596629TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
630647TRANSMEMHelical; Name=12; (Potential).might get lost (downstream of altered splice site)
648695TOPO_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 2247 / 2247
position (AA) of stopcodon in wt / mu AA sequence 749 / 749
position of stopcodon in wt / mu cDNA 2247 / 2247
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 1 / 1
chromosome 12
strand 1
last intron/exon boundary 2049
theoretical NMD boundary in CDS 1998
length of CDS 2247
coding sequence (CDS) position 699
cDNA position
(for ins/del: last normal base / first normal base)		 699
gDNA position
(for ins/del: last normal base / first normal base)		 52125
chromosomal position
(for ins/del: last normal base / first normal base)		 21015760
original gDNA sequence snippet GGATCTCTGTTTGCTAAAATGTACGTGGATATTGGATATGT
altered gDNA sequence snippet GGATCTCTGTTTGCTAAAATATACGTGGATATTGGATATGT
original cDNA sequence snippet GGATCTCTGTTTGCTAAAATGTACGTGGATATTGGATATGT
altered cDNA sequence snippet GGATCTCTGTTTGCTAAAATATACGTGGATATTGGATATGT
wildtype AA sequence MDQHQHLNKT AESASSEKKK TRRCNGFKMF LAALSFSYIA KALGGIIMKI SITQIERRFD
ISSSLAGLID GSFEIGNLLV IVFVSYFGSK LHRPKLIGIG CLLMGTGSIL TSLPHFFMGY
YRYSKETHIN PSENSTSSLS TCLINQTLSF NGTSPEIVEK DCVKESGSHM WIYVFMGNML
RGIGETPIVP LGISYIDDFA KEGHSSLYLG SLNAIGMIGP VIGFALGSLF AKMYVDIGYV
DLSTIRITPK DSRWVGAWWL GFLVSGLFSI ISSIPFFFLP KNPNKPQKER KISLSLHVLK
TNDDRNQTAN LTNQGKNVTK NVTGFFQSLK SILTNPLYVI FLLLTLLQVS SFIGSFTYVF
KYMEQQYGQS ASHANFLLGI ITIPTVATGM FLGGFIIKKF KLSLVGIAKF SFLTSMISFL
FQLLYFPLIC ESKSVAGLTL TYDGNNSVAS HVDVPLSYCN SECNCDESQW EPVCGNNGIT
YLSPCLAGCK SSSGIKKHTV FYNCSCVEVT GLQNRNYSAH LGECPRDNTC TRKFFIYVAI
QVINSLFSAT GGTTFILLTV KIVQPELKAL AMGFQSMVIR TLGGILAPIY FGALIDKTCM
KWSTNSCGAQ GACRIYNSVF FGIVQPELKA LAIGFHSMIM RSLGGILVPI YFGALIDTTC
MKWSTNSCGA RGACRIYNST YLGRAFFGLK VALIFPVLVL LTVFIFVVRK KSHGKDTKVL
ENERQVMDEA NLEFLNDSEH FVPSAEEQ*
mutated AA sequence MDQHQHLNKT AESASSEKKK TRRCNGFKMF LAALSFSYIA KALGGIIMKI SITQIERRFD
ISSSLAGLID GSFEIGNLLV IVFVSYFGSK LHRPKLIGIG CLLMGTGSIL TSLPHFFMGY
YRYSKETHIN PSENSTSSLS TCLINQTLSF NGTSPEIVEK DCVKESGSHM WIYVFMGNML
RGIGETPIVP LGISYIDDFA KEGHSSLYLG SLNAIGMIGP VIGFALGSLF AKIYVDIGYV
DLSTIRITPK DSRWVGAWWL GFLVSGLFSI ISSIPFFFLP KNPNKPQKER KISLSLHVLK
TNDDRNQTAN LTNQGKNVTK NVTGFFQSLK SILTNPLYVI FLLLTLLQVS SFIGSFTYVF
KYMEQQYGQS ASHANFLLGI ITIPTVATGM FLGGFIIKKF KLSLVGIAKF SFLTSMISFL
FQLLYFPLIC ESKSVAGLTL TYDGNNSVAS HVDVPLSYCN SECNCDESQW EPVCGNNGIT
YLSPCLAGCK SSSGIKKHTV FYNCSCVEVT GLQNRNYSAH LGECPRDNTC TRKFFIYVAI
QVINSLFSAT GGTTFILLTV KIVQPELKAL AMGFQSMVIR TLGGILAPIY FGALIDKTCM
KWSTNSCGAQ GACRIYNSVF FGIVQPELKA LAIGFHSMIM RSLGGILVPI YFGALIDTTC
MKWSTNSCGA RGACRIYNST YLGRAFFGLK VALIFPVLVL LTVFIFVVRK KSHGKDTKVL
ENERQVMDEA NLEFLNDSEH FVPSAEEQ*
speed 1.04 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