Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.9999999999999 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr10:124330427C>TN/A show variant in all transcripts   IGV
HGNC symbol DMBT1
Ensembl transcript ID ENST00000368915
Genbank transcript ID N/A
UniProt peptide Q9UGM3
alteration type single base exchange
alteration region CDS
DNA changes c.161C>T
cDNA.267C>T
g.10247C>T
AA changes S54L Score: 145 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 54
frameshift no
known variant Reference ID: rs3013236
databasehomozygous (T/T)heterozygousallele carriers
1000G12779782255
ExAC31281-297951486
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.4880
-2.8940
(flanking)0.1210
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 increased10243wt: 0.9424 / mu: 0.9617 (marginal change - not scored)wt: CAGGTTCTCCATTTCCCTCGGAGTCGACCCTGGAGTCAACT
mu: CAGGTTCTCCATTTCCCTCGGAGTTGACCCTGGAGTCAACT		 tcgg|AGTC
Acc marginally increased10246wt: 0.2024 / mu: 0.2499 (marginal change - not scored)wt: GTTCTCCATTTCCCTCGGAGTCGACCCTGGAGTCAACTGTA
mu: GTTCTCCATTTCCCTCGGAGTTGACCCTGGAGTCAACTGTA		 gagt|CGAC
Acc marginally increased10240wt: 0.6394 / mu: 0.6516 (marginal change - not scored)wt: CTGCAGGTTCTCCATTTCCCTCGGAGTCGACCCTGGAGTCA
mu: CTGCAGGTTCTCCATTTCCCTCGGAGTTGACCCTGGAGTCA		 ccct|CGGA
distance from splice site 22
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      54TVAEGSPFPSESTLESTVAEGSPI
mutated  not conserved    54TVAEGSPFPSELTLESTV
Ptroglodytes  not conserved  ENSPTRG00000022758  54TVAEGSPFPSELTLESTV
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  no alignment  ENSMUSG00000047517  n/a
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no alignment  ENSXETG00000005367  n/a
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 7629 / 7629
position (AA) of stopcodon in wt / mu AA sequence 2543 / 2543
position of stopcodon in wt / mu cDNA 7735 / 7735
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 107 / 107
chromosome 10
strand 1
last intron/exon boundary 7459
theoretical NMD boundary in CDS 7302
length of CDS 7629
coding sequence (CDS) position 161
cDNA position
(for ins/del: last normal base / first normal base)		 267
gDNA position
(for ins/del: last normal base / first normal base)		 10247
chromosomal position
(for ins/del: last normal base / first normal base)		 124330427
original gDNA sequence snippet TTCTCCATTTCCCTCGGAGTCGACCCTGGAGTCAACTGTAG
altered gDNA sequence snippet TTCTCCATTTCCCTCGGAGTTGACCCTGGAGTCAACTGTAG
original cDNA sequence snippet TTCTCCATTTCCCTCGGAGTCGACCCTGGAGTCAACTGTAG
altered cDNA sequence snippet TTCTCCATTTCCCTCGGAGTTGACCCTGGAGTCAACTGTAG
wildtype AA sequence MGISTVILEM CLLWGQVLST GGWIPRTTDY ASLIPSEVPL DPTVAEGSPF PSESTLESTV
AEGSPISLES TLESTVAEGS LIPSESTLES TVAEGSDSGL ALRLVNGDGR CQGRVEILYR
GSWGTVCDDS WDTNDANVVC RQLGCGWAMS APGNAWFGQG SGPIALDDVR CSGHESYLWS
CPHNGWLSHN CGHGEDAGVI CSAAQPQSTL RPESWPVRIS PPVPTEGSES SLALRLVNGG
DRCRGRVEVL YRGSWGTVCD DYWDTNDANV VCRQLGCGWA MSAPGNAQFG QGSGPIVLDD
VRCSGHESYL WSCPHNGWLT HNCGHSEDAG VICSAPQSRP TPSPDTWPTS HASTAGPESS
LALRLVNGGD RCQGRVEVLY RGSWGTVCDD SWDTSDANVV CRQLGCGWAT SAPGNARFGQ
GSGPIVLDDV RCSGYESYLW SCPHNGWLSH NCQHSEDAGV ICSAAHSWST PSPDTLPTIT
LPASTVGSES SLALRLVNGG DRCQGRVEVL YRGSWGTVCD DSWDTNDANV VCRQLGCGWA
MLAPGNARFG QGSGPIVLDD VRCSGNESYL WSCPHNGWLS HNCGHSEDAG VICSGPESSL
ALRLVNGGDR CQGRVEVLYR GSWGTVCDDS WDTNDANVVC RQLGCGWATS APGNARFGQG
SGPIVLDDVR CSGHESYLWS CPNNGWLSHN CGHHEDAGVI CSAAQSRSTP RPDTLSTITL
PPSTVGSESS LTLRLVNGSD RCQGRVEVLY RGSWGTVCDD SWDTNDANVV CRQLGCGWAT
SAPGNARFGQ GSGPIVLDDV RCSGHESYLW SCPHNGWLSH NCGHHEDAGV ICSVSQSRPT
PSPDTWPTSH ASTAGPESSL ALRLVNGGDR CQGRVEVLYR GSWGTVCDDS WDTSDANVVC
RQLGCGWATS APGNARFGQG SGPIVLDDVR CSGYESYLWS CPHNGWLSHN CQHSEDAGVI
CSAAHSWSTP SPDTLPTITL PASTVGSESS LALRLVNGGD RCQGRVEVLY QGSWGTVCDD
SWDTNDANVV CRQLGCGWAM SAPGNARFGQ GSGPIVLDDV RCSGHESYLW SCPHNGWLSH
NCGHSEDAGV ICSASQSRPT PSPDTWPTSH ASTAGSESSL ALRLVNGGDR CQGRVEVLYR
GSWGTVCDDY WDTNDANVVC RQLGCGWAMS APGNARFGQG SGPIVLDDVR CSGHESYLWS
CPHNGWLSHN CGHHEDAGVI CSASQSQPTP SPDTWPTSHA STAGSESSLA LRLVNGGDRC
QGRVEVLYRG SWGTVCDDYW DTNDANVVCR QLGCGWATSA PGNARFGQGS GPIVLDDVRC
SGHESYLWSC PHNGWLSHNC GHHEDAGVIC SASQSQPTPS PDTWPTSHAS TAGSESSLAL
RLVNGGDRCQ GRVEVLYRGS WGTVCDDYWD TNDANVVCRQ LGCGWATSAP GNARFGQGSG
PIVLDDVRCS GHESYLWSCP HNGWLSHNCG HHEDAGVICS ASQSQPTPSP DTWPTSHAST
AGSESSLALR LVNGGDRCQG RVEVLYRGSW GTVCDDYWDT NDANVVCRQL GCGWATSAPG
NARFGQGSGP IVLDDVRCSG HESYLWSCPH NGWLSHNCGH HEDAGVICSA SQSQPTPSPD
TWPTSRASTA GSESTLALRL VNGGDRCRGR VEVLYQGSWG TVCDDYWDTN DANVVCRQLG
CGWAMSAPGN AQFGQGSGPI VLDDVRCSGH ESYLWSCPHN GWLSHNCGHH EDAGVICSAA
QSQSTPRPDT WLTTNLPALT VGSESSLALR LVNGGDRCRG RVEVLYRGSW GTVCDDSWDT
NDANVVCRQL GCGWAMSAPG NARFGQGSGP IVLDDVRCSG NESYLWSCPH KGWLTHNCGH
HEDAGVICSA TQINSTTTDW WHPTTTTTAR PSSNCGGFLF YASGTFSSPS YPAYYPNNAK
CVWEIEVNSG YRINLGFSNL KLEAHHNCSF DYVEIFDGSL NSSLLLGKIC NDTRQIFTSS
YNRMTIHFRS DISFQNTGFL AWYNSFPSDA TLRLVNLNSS YGLCAGRVEI YHGGTWGTVC
DDSWTIQEAE VVCRQLGCGR AVSALGNAYF GSGSGPITLD DVECSGTEST LWQCRNRGWF
SHNCNHREDA GVICSGNHLS TPAPFLNITR PNTDYSCGGF LSQPSGDFSS PFYPGNYPNN
AKCVWDIEVQ NNYRVTVIFR DVQLEGGCNY DYIEVFDGPY RSSPLIARVC DGARGSFTSS
SNFMSIRFIS DHSITRRGFR AEYYSSPSND STNLLCLPNH MQASVSRSYL QSLGFSASDL
VISTWNGYYE CRPQITPNLV IFTIPYSGCG TFKQADNDTI DYSNFLTAAV SGGIIKRRTD
LRIHVSCRML QNTWVDTMYI ANDTIHVANN TIQVEEVQYG NFDVNISFYT SSSFLYPVTS
RPYYVDLNQD LYVQAEILHS DAVLTLFVDT CVASPYSNDF TSLTYDLIRS GCVRDDTYGP
YSSPSLRIAR FRFRAFHFLN RFPSVYLRCK MVVCRAYDPS SRCYRGCVLR SKRDVGSYQE
KVDVVLGPIQ LQTPPRREEE PR*
mutated AA sequence MGISTVILEM CLLWGQVLST GGWIPRTTDY ASLIPSEVPL DPTVAEGSPF PSELTLESTV
AEGSPISLES TLESTVAEGS LIPSESTLES TVAEGSDSGL ALRLVNGDGR CQGRVEILYR
GSWGTVCDDS WDTNDANVVC RQLGCGWAMS APGNAWFGQG SGPIALDDVR CSGHESYLWS
CPHNGWLSHN CGHGEDAGVI CSAAQPQSTL RPESWPVRIS PPVPTEGSES SLALRLVNGG
DRCRGRVEVL YRGSWGTVCD DYWDTNDANV VCRQLGCGWA MSAPGNAQFG QGSGPIVLDD
VRCSGHESYL WSCPHNGWLT HNCGHSEDAG VICSAPQSRP TPSPDTWPTS HASTAGPESS
LALRLVNGGD RCQGRVEVLY RGSWGTVCDD SWDTSDANVV CRQLGCGWAT SAPGNARFGQ
GSGPIVLDDV RCSGYESYLW SCPHNGWLSH NCQHSEDAGV ICSAAHSWST PSPDTLPTIT
LPASTVGSES SLALRLVNGG DRCQGRVEVL YRGSWGTVCD DSWDTNDANV VCRQLGCGWA
MLAPGNARFG QGSGPIVLDD VRCSGNESYL WSCPHNGWLS HNCGHSEDAG VICSGPESSL
ALRLVNGGDR CQGRVEVLYR GSWGTVCDDS WDTNDANVVC RQLGCGWATS APGNARFGQG
SGPIVLDDVR CSGHESYLWS CPNNGWLSHN CGHHEDAGVI CSAAQSRSTP RPDTLSTITL
PPSTVGSESS LTLRLVNGSD RCQGRVEVLY RGSWGTVCDD SWDTNDANVV CRQLGCGWAT
SAPGNARFGQ GSGPIVLDDV RCSGHESYLW SCPHNGWLSH NCGHHEDAGV ICSVSQSRPT
PSPDTWPTSH ASTAGPESSL ALRLVNGGDR CQGRVEVLYR GSWGTVCDDS WDTSDANVVC
RQLGCGWATS APGNARFGQG SGPIVLDDVR CSGYESYLWS CPHNGWLSHN CQHSEDAGVI
CSAAHSWSTP SPDTLPTITL PASTVGSESS LALRLVNGGD RCQGRVEVLY QGSWGTVCDD
SWDTNDANVV CRQLGCGWAM SAPGNARFGQ GSGPIVLDDV RCSGHESYLW SCPHNGWLSH
NCGHSEDAGV ICSASQSRPT PSPDTWPTSH ASTAGSESSL ALRLVNGGDR CQGRVEVLYR
GSWGTVCDDY WDTNDANVVC RQLGCGWAMS APGNARFGQG SGPIVLDDVR CSGHESYLWS
CPHNGWLSHN CGHHEDAGVI CSASQSQPTP SPDTWPTSHA STAGSESSLA LRLVNGGDRC
QGRVEVLYRG SWGTVCDDYW DTNDANVVCR QLGCGWATSA PGNARFGQGS GPIVLDDVRC
SGHESYLWSC PHNGWLSHNC GHHEDAGVIC SASQSQPTPS PDTWPTSHAS TAGSESSLAL
RLVNGGDRCQ GRVEVLYRGS WGTVCDDYWD TNDANVVCRQ LGCGWATSAP GNARFGQGSG
PIVLDDVRCS GHESYLWSCP HNGWLSHNCG HHEDAGVICS ASQSQPTPSP DTWPTSHAST
AGSESSLALR LVNGGDRCQG RVEVLYRGSW GTVCDDYWDT NDANVVCRQL GCGWATSAPG
NARFGQGSGP IVLDDVRCSG HESYLWSCPH NGWLSHNCGH HEDAGVICSA SQSQPTPSPD
TWPTSRASTA GSESTLALRL VNGGDRCRGR VEVLYQGSWG TVCDDYWDTN DANVVCRQLG
CGWAMSAPGN AQFGQGSGPI VLDDVRCSGH ESYLWSCPHN GWLSHNCGHH EDAGVICSAA
QSQSTPRPDT WLTTNLPALT VGSESSLALR LVNGGDRCRG RVEVLYRGSW GTVCDDSWDT
NDANVVCRQL GCGWAMSAPG NARFGQGSGP IVLDDVRCSG NESYLWSCPH KGWLTHNCGH
HEDAGVICSA TQINSTTTDW WHPTTTTTAR PSSNCGGFLF YASGTFSSPS YPAYYPNNAK
CVWEIEVNSG YRINLGFSNL KLEAHHNCSF DYVEIFDGSL NSSLLLGKIC NDTRQIFTSS
YNRMTIHFRS DISFQNTGFL AWYNSFPSDA TLRLVNLNSS YGLCAGRVEI YHGGTWGTVC
DDSWTIQEAE VVCRQLGCGR AVSALGNAYF GSGSGPITLD DVECSGTEST LWQCRNRGWF
SHNCNHREDA GVICSGNHLS TPAPFLNITR PNTDYSCGGF LSQPSGDFSS PFYPGNYPNN
AKCVWDIEVQ NNYRVTVIFR DVQLEGGCNY DYIEVFDGPY RSSPLIARVC DGARGSFTSS
SNFMSIRFIS DHSITRRGFR AEYYSSPSND STNLLCLPNH MQASVSRSYL QSLGFSASDL
VISTWNGYYE CRPQITPNLV IFTIPYSGCG TFKQADNDTI DYSNFLTAAV SGGIIKRRTD
LRIHVSCRML QNTWVDTMYI ANDTIHVANN TIQVEEVQYG NFDVNISFYT SSSFLYPVTS
RPYYVDLNQD LYVQAEILHS DAVLTLFVDT CVASPYSNDF TSLTYDLIRS GCVRDDTYGP
YSSPSLRIAR FRFRAFHFLN RFPSVYLRCK MVVCRAYDPS SRCYRGCVLR SKRDVGSYQE
KVDVVLGPIQ LQTPPRREEE PR*
speed 1.38 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