mutation t@sting

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	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

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

MGISTVILEM CLLWGQVLST GGWIPRTTDY ASLIPSEVPL DPTVAEGSPF PSESTLESTV
AEGSPISLES TLESTVAEGS LIPSESTLES TVAEGSDSGL ALRLVNGDGR CQGRVEILYR
GSWGTVCDDS WDTNDANVVC RQLGCGWAMS APGNAWFGQG SGPIALDDVR CSGHESYLWS
CPHNGWLSHN CGHGEDAGVI CSAPQSRPTP SPDTWPTSHA STAGSESSLA LRLVNGGDRC
QGRVEVLYRG SWGTVCDDYW DTNDANVVCR QLGCGWATSA PGNARFGQGS GPIVLDDVRC
SGHESYLWSC PHNGWLSHNC GHHEDAGVIC SASQSQPTPS PDTWPTSRAS TAGSESTLAL
RLVNGGDRCR GRVEVLYQGS WGTVCDDYWD TNDANVVCRQ LGCGWAMSAP GNAQFGQGSG
PIVLDDVRCS GHESYLWSCP HNGWLSHNCG 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 CSAPQSRPTP SPDTWPTSHA STAGSESSLA LRLVNGGDRC
QGRVEVLYRG SWGTVCDDYW DTNDANVVCR QLGCGWATSA PGNARFGQGS GPIVLDDVRC
SGHESYLWSC PHNGWLSHNC GHHEDAGVIC SASQSQPTPS PDTWPTSRAS TAGSESTLAL
RLVNGGDRCR GRVEVLYQGS WGTVCDDYWD TNDANVVCRQ LGCGWAMSAP GNAQFGQGSG
PIVLDDVRCS GHESYLWSCP HNGWLSHNCG 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

1.27 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