mutation t@sting

Prediction

polymorphism

Model: simple_aae, prob: 0.9999999999999 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr10:124330427C>TN/A show variant in all transcripts IGV

HGNC symbol

DMBT1

Ensembl transcript ID

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

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

not conserved

ENSPTRG00000022758

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

no alignment

ENSMUSG00000047517

n/a

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no alignment

ENSXETG00000005367

n/a

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

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

1.14 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