mutation t@sting

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

ENST00000338354

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

frameshift

known variant

Reference ID: rs3013236

database	homozygous (T/T)	heterozygous	allele carriers
1000G	1277	978	2255
ExAC	31281	-29795	1486

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.488	0
	-2.894	0
(flanking)	0.121	0

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Acc marginally increased	10243	wt: 0.9424 / mu: 0.9617 (marginal change - not scored)	wt: CAGGTTCTCCATTTCCCTCGGAGTCGACCCTGGAGTCAACT mu: CAGGTTCTCCATTTCCCTCGGAGTTGACCCTGGAGTCAACT	tcgg\|AGTC
Acc marginally increased	10246	wt: 0.2024 / mu: 0.2499 (marginal change - not scored)	wt: GTTCTCCATTTCCCTCGGAGTCGACCCTGGAGTCAACTGTA mu: GTTCTCCATTTCCCTCGGAGTTGACCCTGGAGTCAACTGTA	gagt\|CGAC
Acc marginally increased	10240	wt: 0.6394 / mu: 0.6516 (marginal change - not scored)	wt: CTGCAGGTTCTCCATTTCCCTCGGAGTCGACCCTGGAGTCA mu: CTGCAGGTTCTCCATTTCCCTCGGAGTTGACCCTGGAGTCA	ccct\|CGGA

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

not conserved

ENSPTRG00000022758

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

7242 / 7242

position (AA) of stopcodon in wt / mu AA sequence

2414 / 2414

position of stopcodon in wt / mu cDNA

7348 / 7348

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

strand

last intron/exon boundary

7072

theoretical NMD boundary in CDS

6915

length of CDS

7242

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 DTWPTSRAST
AGSESTLALR LVNGGDRCRG RVEVLYQGSW GTVCDDYWDT NDANVVCRQL GCGWAMSAPG
NAQFGQGSGP IVLDDVRCSG HESYLWSCPH NGWLSHNCGH HEDAGVICSA AQSQSTPRPD
TWLTTNLPAL TVGSESSLAL RLVNGGDRCR GRVEVLYRGS WGTVCDDSWD TNDANVVCRQ
LGCGWAMSAP GNARFGQGSG PIVLDDVRCS GNESYLWSCP HKGWLTHNCG HHEDAGVICS
ATQINSTTTD WWHPTTTTTA RPSSNCGGFL FYASGTFSSP SYPAYYPNNA KCVWEIEVNS
GYRINLGFSN LKLEAHHNCS FDYVEIFDGS LNSSLLLGKI CNDTRQIFTS SYNRMTIHFR
SDISFQNTGF LAWYNSFPSD ATLRLVNLNS SYGLCAGRVE IYHGGTWGTV CDDSWTIQEA
EVVCRQLGCG RAVSALGNAY FGSGSGPITL DDVECSGTES TLWQCRNRGW FSHNCNHRED
AGVICSGNHL STPAPFLNIT RPNTDYSCGG FLSQPSGDFS SPFYPGNYPN NAKCVWDIEV
QNNYRVTVIF RDVQLEGGCN YDYIEVFDGP YRSSPLIARV CDGARGSFTS SSNFMSIRFI
SDHSITRRGF RAEYYSSPSN DSTNLLCLPN HMQASVSRSY LQSLGFSASD LVISTWNGYY
ECRPQITPNL VIFTIPYSGC GTFKQADNDT IDYSNFLTAA VSGGIIKRRT DLRIHVSCRM
LQNTWVDTMY IANDTIHVAN NTIQVEEVQY GNFDVNISFY TSSSFLYPVT SRPYYVDLNQ
DLYVQAEILH SDAVLTLFVD TCVASPYSND FTSLTYDLIR SGCVRDDTYG PYSSPSLRIA
RFRFRAFHFL NRFPSVYLRC KMVVCRAYDP SSRCYRGCVL RSKRDVGSYQ EKVDVVLGPI
QLQTPPRREE EPR*

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 DTWPTSRAST
AGSESTLALR LVNGGDRCRG RVEVLYQGSW GTVCDDYWDT NDANVVCRQL GCGWAMSAPG
NAQFGQGSGP IVLDDVRCSG HESYLWSCPH NGWLSHNCGH HEDAGVICSA AQSQSTPRPD
TWLTTNLPAL TVGSESSLAL RLVNGGDRCR GRVEVLYRGS WGTVCDDSWD TNDANVVCRQ
LGCGWAMSAP GNARFGQGSG PIVLDDVRCS GNESYLWSCP HKGWLTHNCG HHEDAGVICS
ATQINSTTTD WWHPTTTTTA RPSSNCGGFL FYASGTFSSP SYPAYYPNNA KCVWEIEVNS
GYRINLGFSN LKLEAHHNCS FDYVEIFDGS LNSSLLLGKI CNDTRQIFTS SYNRMTIHFR
SDISFQNTGF LAWYNSFPSD ATLRLVNLNS SYGLCAGRVE IYHGGTWGTV CDDSWTIQEA
EVVCRQLGCG RAVSALGNAY FGSGSGPITL DDVECSGTES TLWQCRNRGW FSHNCNHRED
AGVICSGNHL STPAPFLNIT RPNTDYSCGG FLSQPSGDFS SPFYPGNYPN NAKCVWDIEV
QNNYRVTVIF RDVQLEGGCN YDYIEVFDGP YRSSPLIARV CDGARGSFTS SSNFMSIRFI
SDHSITRRGF RAEYYSSPSN DSTNLLCLPN HMQASVSRSY LQSLGFSASD LVISTWNGYY
ECRPQITPNL VIFTIPYSGC GTFKQADNDT IDYSNFLTAA VSGGIIKRRT DLRIHVSCRM
LQNTWVDTMY IANDTIHVAN NTIQVEEVQY GNFDVNISFY TSSSFLYPVT SRPYYVDLNQ
DLYVQAEILH SDAVLTLFVD TCVASPYSND FTSLTYDLIR SGCVRDDTYG PYSSPSLRIA
RFRFRAFHFL NRFPSVYLRC KMVVCRAYDP SSRCYRGCVL RSKRDVGSYQ EKVDVVLGPI
QLQTPPRREE EPR*

speed

1.21 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