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
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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 ENST00000327438
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 5358 / 5358
position (AA) of stopcodon in wt / mu AA sequence 1786 / 1786
position of stopcodon in wt / mu cDNA 5464 / 5464
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 5188
theoretical NMD boundary in CDS 5031
length of CDS 5358
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 YQGSWGTVCD DSWDTNDANV VCRQLGCGWA
MSAPGNARFG QGSGPIVLDD VRCSGHESYL WSCPHNGWLS HNCGHSEDAG VICSASQSRP
TPSPDTWPTS HASTAGSESS LALRLVNGGD RCQGRVEVLY RGSWGTVCDD YWDTNDANVV
CRQLGCGWAM SAPGNARFGQ GSGPIVLDDV RCSGHESYLW SCPHNGWLSH NCGHHEDAGV
ICSASQSQPT PSPDTWPTSH ASTAGSESSL ALRLVNGGDR CQGRVEVLYR GSWGTVCDDY
WDTNDANVVC RQLGCGWATS APGNARFGQG SGPIVLDDVR CSGHESYLWS CPHNGWLSHN
CGHHEDAGVI CSASQSQPTP SPDTWPTSRA STAGSESTLA LRLVNGGDRC RGRVEVLYQG
SWGTVCDDYW DTNDANVVCR QLGCGWAMSA PGNAQFGQGS GPIVLDDVRC SGHESYLWSC
PHNGWLSHNC GHHEDAGVIC SAAQSQSTPR PDTWLTTNLP ALTVGSESSL ALRLVNGGDR
CRGRVEVLYR GSWGTVCDDS WDTNDANVVC RQLGCGWAMS APGNARFGQG SGPIVLDDVR
CSGNESYLWS CPHKGWLTHN CGHHEDAGVI CSATQINSTT TDWWHPTTTT TARPSSNCGG
FLFYASGTFS SPSYPAYYPN NAKCVWEIEV NSGYRINLGF SNLKLEAHHN CSFDYVEIFD
GSLNSSLLLG KICNDTRQIF TSSYNRMTIH FRSDISFQNT GFLAWYNSFP SDATLRLVNL
NSSYGLCAGR VEIYHGGTWG TVCDDSWTIQ EAEVVCRQLG CGRAVSALGN AYFGSGSGPI
TLDDVECSGT ESTLWQCRNR GWFSHNCNHR EDAGVICSGN HLSTPAPFLN ITRPNTDYSC
GGFLSQPSGD FSSPFYPGNY PNNAKCVWDI EVQNNYRVTV IFRDVQLEGG CNYDYIEVFD
GPYRSSPLIA RVCDGARGSF TSSSNFMSIR FISDHSITRR GFRAEYYSSP SNDSTNLLCL
PNHMQASVSR SYLQSLGFSA SDLVISTWNG YYECRPQITP NLVIFTIPYS GCGTFKQADN
DTIDYSNFLT AAVSGGIIKR RTDLRIHVSC RMLQNTWVDT MYIANDTIHV ANNTIQVEEV
QYGNFDVNIS FYTSSSFLYP VTSRPYYVDL NQDLYVQAEI LHSDAVLTLF VDTCVASPYS
NDFTSLTYDL IRSGCVRDDT YGPYSSPSLR IARFRFRAFH FLNRFPSVYL RCKMVVCRAY
DPSSRCYRGC VLRSKRDVGS YQEKVDVVLG PIQLQTPPRR EEEPR*
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 YQGSWGTVCD DSWDTNDANV VCRQLGCGWA
MSAPGNARFG QGSGPIVLDD VRCSGHESYL WSCPHNGWLS HNCGHSEDAG VICSASQSRP
TPSPDTWPTS HASTAGSESS LALRLVNGGD RCQGRVEVLY RGSWGTVCDD YWDTNDANVV
CRQLGCGWAM SAPGNARFGQ GSGPIVLDDV RCSGHESYLW SCPHNGWLSH NCGHHEDAGV
ICSASQSQPT PSPDTWPTSH ASTAGSESSL ALRLVNGGDR CQGRVEVLYR GSWGTVCDDY
WDTNDANVVC RQLGCGWATS APGNARFGQG SGPIVLDDVR CSGHESYLWS CPHNGWLSHN
CGHHEDAGVI CSASQSQPTP SPDTWPTSRA STAGSESTLA LRLVNGGDRC RGRVEVLYQG
SWGTVCDDYW DTNDANVVCR QLGCGWAMSA PGNAQFGQGS GPIVLDDVRC SGHESYLWSC
PHNGWLSHNC GHHEDAGVIC SAAQSQSTPR PDTWLTTNLP ALTVGSESSL ALRLVNGGDR
CRGRVEVLYR GSWGTVCDDS WDTNDANVVC RQLGCGWAMS APGNARFGQG SGPIVLDDVR
CSGNESYLWS CPHKGWLTHN CGHHEDAGVI CSATQINSTT TDWWHPTTTT TARPSSNCGG
FLFYASGTFS SPSYPAYYPN NAKCVWEIEV NSGYRINLGF SNLKLEAHHN CSFDYVEIFD
GSLNSSLLLG KICNDTRQIF TSSYNRMTIH FRSDISFQNT GFLAWYNSFP SDATLRLVNL
NSSYGLCAGR VEIYHGGTWG TVCDDSWTIQ EAEVVCRQLG CGRAVSALGN AYFGSGSGPI
TLDDVECSGT ESTLWQCRNR GWFSHNCNHR EDAGVICSGN HLSTPAPFLN ITRPNTDYSC
GGFLSQPSGD FSSPFYPGNY PNNAKCVWDI EVQNNYRVTV IFRDVQLEGG CNYDYIEVFD
GPYRSSPLIA RVCDGARGSF TSSSNFMSIR FISDHSITRR GFRAEYYSSP SNDSTNLLCL
PNHMQASVSR SYLQSLGFSA SDLVISTWNG YYECRPQITP NLVIFTIPYS GCGTFKQADN
DTIDYSNFLT AAVSGGIIKR RTDLRIHVSC RMLQNTWVDT MYIANDTIHV ANNTIQVEEV
QYGNFDVNIS FYTSSSFLYP VTSRPYYVDL NQDLYVQAEI LHSDAVLTLF VDTCVASPYS
NDFTSLTYDL IRSGCVRDDT YGPYSSPSLR IARFRFRAFH FLNRFPSVYL RCKMVVCRAY
DPSSRCYRGC VLRSKRDVGS YQEKVDVVLG PIQLQTPPRR EEEPR*
speed 1.00 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