MutationTaster - study a chromosomal position

NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 14 transcript(s)...
Querying Taster for transcript #1: ENST00000338354
Querying Taster for transcript #2: ENST00000368915
Querying Taster for transcript #3: ENST00000341278
Querying Taster for transcript #4: ENST00000368953
Querying Taster for transcript #5: ENST00000339871
Querying Taster for transcript #6: ENST00000368942
Querying Taster for transcript #7: ENST00000327438
Querying Taster for transcript #8: ENST00000344338
Querying Taster for transcript #9: ENST00000339712
Querying Taster for transcript #10: ENST00000330163
Querying Taster for transcript #11: ENST00000368909
Querying Taster for transcript #12: ENST00000368955
Querying Taster for transcript #13: ENST00000368956
Querying Taster for transcript #14: ENST00000359586
MT speed 1.99 s - this script 3.118836 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
DMBT1	polymorphism_automatic	1.00031094518727e-13	simple_aae				S54L	single base exchange	rs3013236		show file
DMBT1	polymorphism_automatic	1.00031094518727e-13	simple_aae				S54L	single base exchange	rs3013236		show file
DMBT1	polymorphism_automatic	1.00031094518727e-13	simple_aae				S54L	single base exchange	rs3013236		show file
DMBT1	polymorphism_automatic	1.00031094518727e-13	simple_aae				S54L	single base exchange	rs3013236		show file
DMBT1	polymorphism_automatic	1.00031094518727e-13	simple_aae				S54L	single base exchange	rs3013236		show file
DMBT1	polymorphism_automatic	1.00031094518727e-13	simple_aae				S54L	single base exchange	rs3013236		show file
DMBT1	polymorphism_automatic	1.00031094518727e-13	simple_aae				S54L	single base exchange	rs3013236		show file
DMBT1	polymorphism_automatic	1.00031094518727e-13	simple_aae				S54L	single base exchange	rs3013236		show file
DMBT1	polymorphism_automatic	1.00031094518727e-13	simple_aae				S54L	single base exchange	rs3013236		show file
DMBT1	polymorphism_automatic	1.00031094518727e-13	simple_aae				S54L	single base exchange	rs3013236		show file
DMBT1	polymorphism_automatic	1.00031094518727e-13	simple_aae				S54L	single base exchange	rs3013236		show file
DMBT1	polymorphism_automatic	1.00031094518727e-13	simple_aae				S54L	single base exchange	rs3013236		show file
DMBT1	polymorphism_automatic	1.00031094518727e-13	simple_aae				S54L	single base exchange	rs3013236		show file
DMBT1	polymorphism_automatic	6.89004409082372e-13	simple_aae				S54L	single base exchange	rs3013236		show file

Taster files

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

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	10240	wt: 0.6394 / mu: 0.6516 (marginal change - not scored)	wt: CTGCAGGTTCTCCATTTCCCTCGGAGTCGACCCTGGAGTCA mu: CTGCAGGTTCTCCATTTCCCTCGGAGTTGACCCTGGAGTCA	ccct\|CGGA
Acc marginally increased	10246	wt: 0.2024 / mu: 0.2499 (marginal change - not scored)	wt: GTTCTCCATTTCCCTCGGAGTCGACCCTGGAGTCAACTGTA mu: GTTCTCCATTTCCCTCGGAGTTGACCCTGGAGTCAACTGTA	gagt\|CGAC

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

0.18 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
back to results table

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

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	10240	wt: 0.6394 / mu: 0.6516 (marginal change - not scored)	wt: CTGCAGGTTCTCCATTTCCCTCGGAGTCGACCCTGGAGTCA mu: CTGCAGGTTCTCCATTTCCCTCGGAGTTGACCCTGGAGTCA	ccct\|CGGA
Acc marginally increased	10246	wt: 0.2024 / mu: 0.2499 (marginal change - not scored)	wt: GTTCTCCATTTCCCTCGGAGTCGACCCTGGAGTCAACTGTA mu: GTTCTCCATTTCCCTCGGAGTTGACCCTGGAGTCAACTGTA	gagt\|CGAC

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

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

strand

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

0.17 s

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

ENST00000341278

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	10240	wt: 0.6394 / mu: 0.6516 (marginal change - not scored)	wt: CTGCAGGTTCTCCATTTCCCTCGGAGTCGACCCTGGAGTCA mu: CTGCAGGTTCTCCATTTCCCTCGGAGTTGACCCTGGAGTCA	ccct\|CGGA
Acc marginally increased	10246	wt: 0.2024 / mu: 0.2499 (marginal change - not scored)	wt: GTTCTCCATTTCCCTCGGAGTCGACCCTGGAGTCAACTGTA mu: GTTCTCCATTTCCCTCGGAGTTGACCCTGGAGTCAACTGTA	gagt\|CGAC

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

mutated AA sequence

speed

0.12 s

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

ENST00000368953

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	10240	wt: 0.6394 / mu: 0.6516 (marginal change - not scored)	wt: CTGCAGGTTCTCCATTTCCCTCGGAGTCGACCCTGGAGTCA mu: CTGCAGGTTCTCCATTTCCCTCGGAGTTGACCCTGGAGTCA	ccct\|CGGA
Acc marginally increased	10246	wt: 0.2024 / mu: 0.2499 (marginal change - not scored)	wt: GTTCTCCATTTCCCTCGGAGTCGACCCTGGAGTCAACTGTA mu: GTTCTCCATTTCCCTCGGAGTTGACCCTGGAGTCAACTGTA	gagt\|CGAC

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

mutated AA sequence

speed

0.15 s

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

ENST00000339871

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	10240	wt: 0.6394 / mu: 0.6516 (marginal change - not scored)	wt: CTGCAGGTTCTCCATTTCCCTCGGAGTCGACCCTGGAGTCA mu: CTGCAGGTTCTCCATTTCCCTCGGAGTTGACCCTGGAGTCA	ccct\|CGGA
Acc marginally increased	10246	wt: 0.2024 / mu: 0.2499 (marginal change - not scored)	wt: GTTCTCCATTTCCCTCGGAGTCGACCCTGGAGTCAACTGTA mu: GTTCTCCATTTCCCTCGGAGTTGACCCTGGAGTCAACTGTA	gagt\|CGAC

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

mutated AA sequence

speed

0.15 s

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

ENST00000368942

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	10240	wt: 0.6394 / mu: 0.6516 (marginal change - not scored)	wt: CTGCAGGTTCTCCATTTCCCTCGGAGTCGACCCTGGAGTCA mu: CTGCAGGTTCTCCATTTCCCTCGGAGTTGACCCTGGAGTCA	ccct\|CGGA
Acc marginally increased	10246	wt: 0.2024 / mu: 0.2499 (marginal change - not scored)	wt: GTTCTCCATTTCCCTCGGAGTCGACCCTGGAGTCAACTGTA mu: GTTCTCCATTTCCCTCGGAGTTGACCCTGGAGTCAACTGTA	gagt\|CGAC

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

7239 / 7239

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

2413 / 2413

position of stopcodon in wt / mu cDNA

7345 / 7345

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

7069

theoretical NMD boundary in CDS

6912

length of CDS

7239

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 RPNNYSCGGF 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 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 RPNNYSCGGF 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

0.15 s

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

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

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	10240	wt: 0.6394 / mu: 0.6516 (marginal change - not scored)	wt: CTGCAGGTTCTCCATTTCCCTCGGAGTCGACCCTGGAGTCA mu: CTGCAGGTTCTCCATTTCCCTCGGAGTTGACCCTGGAGTCA	ccct\|CGGA
Acc marginally increased	10246	wt: 0.2024 / mu: 0.2499 (marginal change - not scored)	wt: GTTCTCCATTTCCCTCGGAGTCGACCCTGGAGTCAACTGTA mu: GTTCTCCATTTCCCTCGGAGTTGACCCTGGAGTCAACTGTA	gagt\|CGAC

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

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

strand

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

0.12 s

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

ENST00000344338

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	10240	wt: 0.6394 / mu: 0.6516 (marginal change - not scored)	wt: CTGCAGGTTCTCCATTTCCCTCGGAGTCGACCCTGGAGTCA mu: CTGCAGGTTCTCCATTTCCCTCGGAGTTGACCCTGGAGTCA	ccct\|CGGA
Acc marginally increased	10246	wt: 0.2024 / mu: 0.2499 (marginal change - not scored)	wt: GTTCTCCATTTCCCTCGGAGTCGACCCTGGAGTCAACTGTA mu: GTTCTCCATTTCCCTCGGAGTTGACCCTGGAGTCAACTGTA	gagt\|CGAC

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

7212 / 7212

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

2404 / 2404

position of stopcodon in wt / mu cDNA

7318 / 7318

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

7042

theoretical NMD boundary in CDS

6885

length of CDS

7212

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 ICSDTLPTIT 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 ICSDTLPTIT 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

0.13 s

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

ENST00000339712

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	10240	wt: 0.6394 / mu: 0.6516 (marginal change - not scored)	wt: CTGCAGGTTCTCCATTTCCCTCGGAGTCGACCCTGGAGTCA mu: CTGCAGGTTCTCCATTTCCCTCGGAGTTGACCCTGGAGTCA	ccct\|CGGA
Acc marginally increased	10246	wt: 0.2024 / mu: 0.2499 (marginal change - not scored)	wt: GTTCTCCATTTCCCTCGGAGTCGACCCTGGAGTCAACTGTA mu: GTTCTCCATTTCCCTCGGAGTTGACCCTGGAGTCAACTGTA	gagt\|CGAC

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

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

strand

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

0.13 s

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

ENST00000330163

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	10240	wt: 0.6394 / mu: 0.6516 (marginal change - not scored)	wt: CTGCAGGTTCTCCATTTCCCTCGGAGTCGACCCTGGAGTCA mu: CTGCAGGTTCTCCATTTCCCTCGGAGTTGACCCTGGAGTCA	ccct\|CGGA
Acc marginally increased	10246	wt: 0.2024 / mu: 0.2499 (marginal change - not scored)	wt: GTTCTCCATTTCCCTCGGAGTCGACCCTGGAGTCAACTGTA mu: GTTCTCCATTTCCCTCGGAGTTGACCCTGGAGTCAACTGTA	gagt\|CGAC

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

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

strand

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

0.14 s

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

ENST00000368909

Genbank transcript ID

NM_007329

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	10240	wt: 0.6394 / mu: 0.6516 (marginal change - not scored)	wt: CTGCAGGTTCTCCATTTCCCTCGGAGTCGACCCTGGAGTCA mu: CTGCAGGTTCTCCATTTCCCTCGGAGTTGACCCTGGAGTCA	ccct\|CGGA
Acc marginally increased	10246	wt: 0.2024 / mu: 0.2499 (marginal change - not scored)	wt: GTTCTCCATTTCCCTCGGAGTCGACCCTGGAGTCAACTGTA mu: GTTCTCCATTTCCCTCGGAGTTGACCCTGGAGTCAACTGTA	gagt\|CGAC

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

mutated AA sequence

speed

0.18 s

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

ENST00000368955

Genbank transcript ID

NM_017579

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	10240	wt: 0.6394 / mu: 0.6516 (marginal change - not scored)	wt: CTGCAGGTTCTCCATTTCCCTCGGAGTCGACCCTGGAGTCA mu: CTGCAGGTTCTCCATTTCCCTCGGAGTTGACCCTGGAGTCA	ccct\|CGGA
Acc marginally increased	10246	wt: 0.2024 / mu: 0.2499 (marginal change - not scored)	wt: GTTCTCCATTTCCCTCGGAGTCGACCCTGGAGTCAACTGTA mu: GTTCTCCATTTCCCTCGGAGTTGACCCTGGAGTCAACTGTA	gagt\|CGAC

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

7212 / 7212

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

2404 / 2404

position of stopcodon in wt / mu cDNA

7318 / 7318

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

7042

theoretical NMD boundary in CDS

6885

length of CDS

7212

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 ICSDTLPTIT 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 ICSDTLPTIT 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

0.13 s

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

ENST00000368956

Genbank transcript ID

NM_004406

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	10240	wt: 0.6394 / mu: 0.6516 (marginal change - not scored)	wt: CTGCAGGTTCTCCATTTCCCTCGGAGTCGACCCTGGAGTCA mu: CTGCAGGTTCTCCATTTCCCTCGGAGTTGACCCTGGAGTCA	ccct\|CGGA
Acc marginally increased	10246	wt: 0.2024 / mu: 0.2499 (marginal change - not scored)	wt: GTTCTCCATTTCCCTCGGAGTCGACCCTGGAGTCAACTGTA mu: GTTCTCCATTTCCCTCGGAGTTGACCCTGGAGTCAACTGTA	gagt\|CGAC

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

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

strand

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

0.12 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999311 (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

ENST00000359586

Genbank transcript ID

N/A

UniProt peptide

Q9UGM3

alteration type

single base exchange

alteration region

CDS

DNA changes

c.161C>T
cDNA.247C>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	10240	wt: 0.6394 / mu: 0.6516 (marginal change - not scored)	wt: CTGCAGGTTCTCCATTTCCCTCGGAGTCGACCCTGGAGTCA mu: CTGCAGGTTCTCCATTTCCCTCGGAGTTGACCCTGGAGTCA	ccct\|CGGA
Acc marginally increased	10246	wt: 0.2024 / mu: 0.2499 (marginal change - not scored)	wt: GTTCTCCATTTCCCTCGGAGTCGACCCTGGAGTCAACTGTA mu: GTTCTCCATTTCCCTCGGAGTTGACCCTGGAGTCAACTGTA	gagt\|CGAC

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

no alignment

ENSPTRG00000022758

n/a

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000047517

453

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

3402 / 3402

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

1134 / 1134

position of stopcodon in wt / mu cDNA

3488 / 3488

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

87 / 87

chromosome

strand

last intron/exon boundary

3212

theoretical NMD boundary in CDS

3075

length of CDS

3402

coding sequence (CDS) position

161

cDNA position
(for ins/del: last normal base / first normal base)

247

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

mutated AA sequence

speed

0.12 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems