Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 1.73020854979779e-07 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • 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 SLCO1B7
Ensembl transcript ID ENST00000554957
Genbank transcript ID N/A
UniProt peptide G3V0H7
alteration type single base exchange
alteration region intron
DNA changes g.47088G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
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 increased47083wt: 0.8913 / mu: 0.8949 (marginal change - not scored)wt: CACTGGGATCTCTGTTTGCTAAAATGTACGTGGATATTGGA
mu: CACTGGGATCTCTGTTTGCTAAAATATACGTGGATATTGGA		 gcta|AAAT
Donor increased47080wt: 0.64 / mu: 0.82wt: TGTTTGCTAAAATGT
mu: TGTTTGCTAAAATAT		 TTTG|ctaa
Donor increased47086wt: 0.71 / mu: 0.90wt: CTAAAATGTACGTGG
mu: CTAAAATATACGTGG		 AAAA|tgta
distance from splice site 4255
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
71123TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
124144TRANSMEMHelical; Name=3; (Potential).might get lost (downstream of altered splice site)
145159TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
160180TRANSMEMHelical; Name=4; (Potential).might get lost (downstream of altered splice site)
167167CONFLICTV -> A (in Ref. 1; AAQ03085).might get lost (downstream of altered splice site)
181211TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
212232TRANSMEMHelical; Name=5; (Potential).might get lost (downstream of altered splice site)
233292TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
293313TRANSMEMHelical; Name=6; (Potential).might get lost (downstream of altered splice site)
314329TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
330350TRANSMEMHelical; Name=7; (Potential).might get lost (downstream of altered splice site)
338338CONFLICTA -> T (in Ref. 1; AAQ03085).might get lost (downstream of altered splice site)
351362TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
363383TRANSMEMHelical; Name=8; (Potential).might get lost (downstream of altered splice site)
384492TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
406406CONFLICTD -> G (in Ref. 1; AAQ03085).might get lost (downstream of altered splice site)
406461DOMAINKazal-like.might get lost (downstream of altered splice site)
412412DISULFIDBy similarity.might get lost (downstream of altered splice site)
418418DISULFIDBy similarity.might get lost (downstream of altered splice site)
427427DISULFIDBy similarity.might get lost (downstream of altered splice site)
438438DISULFIDBy similarity.might get lost (downstream of altered splice site)
442442DISULFIDBy similarity.might get lost (downstream of altered splice site)
459459DISULFIDBy similarity.might get lost (downstream of altered splice site)
493513TRANSMEMHelical; Name=9; (Potential).might get lost (downstream of altered splice site)
514521TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
522542TRANSMEMHelical; Name=10; (Potential).might get lost (downstream of altered splice site)
543577TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
578598TRANSMEMHelical; Name=11; (Potential).might get lost (downstream of altered splice site)
599640TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
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 1866
theoretical NMD boundary in CDS 1815
length of CDS 2064
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 47088
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 N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MDQHQHLNKT AESASSEKKK TRRCNGFKMF LAALSFSYIA KALGGIIMKI SITQIERRFD
ISSSLAGLID GSFEIGNLLV IVFVSYFGSK LHRPKLIGIG CLLMGTGSIL TSLPHFFMGY
YRYSKETNID PSENSTSNLP NCLINQMLSL NRTPSEIIER GCVKESGSHM WIYVFMGNML
RGIGETPIVP LGISYIDDFA KEGHSSLYLG TVNVMGMTGL VFAFMLGSLF AKMYVDIGYV
DLSTIRITPK DSRWVGAWWL GFLVSGIVSI ISSIPFFFLP LNPNKPQKER KVSLFLHVLK
TNDKRNQIAN LTNRRKYITK NVTGFFQSLK SILTNPLYVI FVIFTLLHMS SYIASLTYII
KMVEQQYGWS ASKTNFLLGV LALPAVAIGM FSGGYIIKKF KLSLVGLAKL AFCSATVHLL
SQVLYFFLIC ESKSVAGLTL TYDGNSPVRS HVDVPLSYCN SECNCDESQW EPVCGNNGIT
YLSPCLAGCK SSSGNKEPIV FYNCSCVEVI GLQNKNYSAH LGECPRDDAC TRKSYVYFVI
QVLDAFLCAV GLTSYSVLVI RIVQPELKAL AIGFHSMIMR SLGGILVPIY FGALIDTTCM
KWSTNSCGAR GACRIYNSTY LGRAFFGLKV ALIFPVLVLL TVFIFVVRKK SHGKDTKVLE
NERQVMDEAN LEFLNDSEHF VPSAEEQ*
mutated AA sequence N/A
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