MutationTaster - study a chromosomal position

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input seems to be ok - now mapping the variant to the different transcripts...
found 1 transcript(s)...
Querying Taster for transcript #1: ENST00000311127
MT speed 0.31 s - this script 2.355424 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
HEG1	polymorphism_automatic	7.01301243539731e-05	simple_aae				F602S	single base exchange	rs6790837		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999929869875646 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr3:124732618A>GN/A show variant in all transcripts IGV

HGNC symbol

HEG1

Ensembl transcript ID

ENST00000311127

Genbank transcript ID

NM_020733

UniProt peptide

Q9ULI3

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1805T>C
cDNA.1873T>C
g.42185T>C

AA changes

F602S Score: 155 explain score(s)

position(s) of altered AA
if AA alteration in CDS

602

frameshift

known variant

Reference ID: rs6790837

database	homozygous (G/G)	heterozygous	allele carriers
1000G	-	-	-
ExAC	15444	1879	17323

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.581	0.831
	1.313	0.9
(flanking)	0.351	0.908

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	42186	wt: 0.7559 / mu: 0.7917 (marginal change - not scored)	wt: TCAGAGTATTCCTCCTTTTTTCATGCTCAGACTGAGAGAAG mu: TCAGAGTATTCCTCCTTTTCTCATGCTCAGACTGAGAGAAG	tttt\|CATG
Acc marginally increased	42191	wt: 0.9895 / mu: 0.9907 (marginal change - not scored)	wt: GTATTCCTCCTTTTTTCATGCTCAGACTGAGAGAAGTAACA mu: GTATTCCTCCTTTTCTCATGCTCAGACTGAGAGAAGTAACA	atgc\|TCAG

distance from splice site

217

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

602

mutated

not conserved

602

Ptroglodytes

all identical

ENSPTRG00000015315

602

Mmulatta

no alignment

ENSMMUG00000001168

n/a

Fcatus

not conserved

ENSFCAG00000015098

484

Mmusculus

not conserved

ENSMUSG00000075254

582

Ggallus

not conserved

ENSGALG00000011813

Trubripes

not conserved

ENSTRUG00000006637

Drerio

not conserved

ENSDARG00000018441

234

TDPTF

Dmelanogaster

no homologue

Celegans

not conserved

Y70G10A.2

296

STS

Xtropicalis

no alignment

ENSXETG00000023380

n/a

protein features

start (aa)	end (aa)	feature	details
30	1248	TOPO_DOM	Extracellular (Potential).	lost
463	743	COMPBIAS	Ser-rich.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

4146 / 4146

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

1382 / 1382

position of stopcodon in wt / mu cDNA

4214 / 4214

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

69 / 69

chromosome

strand

-1

last intron/exon boundary

4065

theoretical NMD boundary in CDS

3946

length of CDS

4146

coding sequence (CDS) position

1805

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

1873

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

42185

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

124732618

original gDNA sequence snippet

TTCAGAGTATTCCTCCTTTTTTCATGCTCAGACTGAGAGAA

altered gDNA sequence snippet

TTCAGAGTATTCCTCCTTTTCTCATGCTCAGACTGAGAGAA

original cDNA sequence snippet

TTCAGAGTATTCCTCCTTTTTTCATGCTCAGACTGAGAGAA

altered cDNA sequence snippet

TTCAGAGTATTCCTCCTTTTCTCATGCTCAGACTGAGAGAA

wildtype AA sequence

MASPRASRWP PPLLLLLLPL LLLPPAAPGT RDPPPSPARR ALSLAPLAGA GLELQLERRP
EREPPPTPPR ERRGPATPGP SYRAPEPGAA TQRGPSGRAP RGGSADAAWK HWPESNTEAH
VENITFYQNQ EDFSTVSSKE GVMVQTSGKS HAASDAPENL TLLAETADAR GRSGSSSRTN
FTILPVGYSL EIATALTSQS GNLASESLHL PSSSSEFDER IAAFQTKSGT ASEMGTERAM
GLSEEWTVHS QEATTSAWSP SFLPALEMGE LTTPSRKRNS SGPDLSWLHF YRTAASSPLL
DLSSSSESTE KLNNSTGLQS SSVSQTKTMH VATVFTDGGP RTLRSLTVSL GPVSKTEGFP
KDSRIATTSS SVLLSPSAVE SRRNSRVTGN PGDEEFIEPS TENEFGLTSL RWQNDSPTFG
EHQLASSSEV QNGSPMSQTE TVSRSVAPMR GGEITAHWLL TNSTTSADVT GSSASYPEGV
NASVLTQFSD STVQSGGSHT ALGDRSYSES SSTSSSESLN SSAPRGERSI AGISYGQVRG
TAIEQRTSSD HTDHTYLSST FTKGERALLS ITDNSSSSDI VESSTSYIKI SNSSHSEYSS
FFHAQTERSN ISSYDGEYAQ PSTESPVLHT SNLPSYTPTI NMPNTSVVLD TDAEFVSDSS
SSSSSSSSSS SSGPPLPLPS VSQSHHLFSS ILPSTRASVH LLKSTSDAST PWSSSPSPLP
VSLTTSTSAP LSVSQTTLPQ SSSTPVLPRA RETPVTSFQT STMTSFMTML HSSQTADLKS
QSTPHQEKVI TESKSPSLVS LPTESTKAVT TNSPLPPSLT ESSTEQTLPA TSTNLAQMSP
TFTTTILKTS QPLMTTPGTL SSTASLVTGP IAVQTTAGKQ LSLTHPEILV PQISTEGGIS
TERNRVIVDA TTGLIPLTSV PTSAKEMTTK LGVTAEYSPA SRSLGTSPSP QTTVVSTAED
LAPKSATFAV QSSTQSPTTV SSSASVNSCA VNPCLHNGEC VADNTSRGYH CRCPPSWQGD
DCSVDVNECL SNPCPSTAMC NNTQGSFICK CPVGYQLEKG ICNLVRTFVT EFKLKRTFLN
TTVEKHSDLQ EVENEITKTL NMCFSALPSY IRSTVHASRE SNAVVISLQT TFSLASNVTL
FDLADRMQKC VNSCKSSAEV CQLLGSQRRI FRAGSLCKRK SPECDKDTSI CTDLDGVALC
QCKSGYFQFN KMDHSCRACE DGYRLENETC MSCPFGLGGL NCGNPYQLIT VVIAAAGGGL
LLILGIALIV TCCRKNKNDI SKLIFKSGDF QMSPYAEYPK NPRSQEWGRE AIEMHENGST
KNLLQMTDVY YSPTSVRNPE LERNGLYPAY TGLPGSRHSC IFPGQYNPSF ISDESRRRDY
F*

mutated AA sequence

MASPRASRWP PPLLLLLLPL LLLPPAAPGT RDPPPSPARR ALSLAPLAGA GLELQLERRP
EREPPPTPPR ERRGPATPGP SYRAPEPGAA TQRGPSGRAP RGGSADAAWK HWPESNTEAH
VENITFYQNQ EDFSTVSSKE GVMVQTSGKS HAASDAPENL TLLAETADAR GRSGSSSRTN
FTILPVGYSL EIATALTSQS GNLASESLHL PSSSSEFDER IAAFQTKSGT ASEMGTERAM
GLSEEWTVHS QEATTSAWSP SFLPALEMGE LTTPSRKRNS SGPDLSWLHF YRTAASSPLL
DLSSSSESTE KLNNSTGLQS SSVSQTKTMH VATVFTDGGP RTLRSLTVSL GPVSKTEGFP
KDSRIATTSS SVLLSPSAVE SRRNSRVTGN PGDEEFIEPS TENEFGLTSL RWQNDSPTFG
EHQLASSSEV QNGSPMSQTE TVSRSVAPMR GGEITAHWLL TNSTTSADVT GSSASYPEGV
NASVLTQFSD STVQSGGSHT ALGDRSYSES SSTSSSESLN SSAPRGERSI AGISYGQVRG
TAIEQRTSSD HTDHTYLSST FTKGERALLS ITDNSSSSDI VESSTSYIKI SNSSHSEYSS
FSHAQTERSN ISSYDGEYAQ PSTESPVLHT SNLPSYTPTI NMPNTSVVLD TDAEFVSDSS
SSSSSSSSSS SSGPPLPLPS VSQSHHLFSS ILPSTRASVH LLKSTSDAST PWSSSPSPLP
VSLTTSTSAP LSVSQTTLPQ SSSTPVLPRA RETPVTSFQT STMTSFMTML HSSQTADLKS
QSTPHQEKVI TESKSPSLVS LPTESTKAVT TNSPLPPSLT ESSTEQTLPA TSTNLAQMSP
TFTTTILKTS QPLMTTPGTL SSTASLVTGP IAVQTTAGKQ LSLTHPEILV PQISTEGGIS
TERNRVIVDA TTGLIPLTSV PTSAKEMTTK LGVTAEYSPA SRSLGTSPSP QTTVVSTAED
LAPKSATFAV QSSTQSPTTV SSSASVNSCA VNPCLHNGEC VADNTSRGYH CRCPPSWQGD
DCSVDVNECL SNPCPSTAMC NNTQGSFICK CPVGYQLEKG ICNLVRTFVT EFKLKRTFLN
TTVEKHSDLQ EVENEITKTL NMCFSALPSY IRSTVHASRE SNAVVISLQT TFSLASNVTL
FDLADRMQKC VNSCKSSAEV CQLLGSQRRI FRAGSLCKRK SPECDKDTSI CTDLDGVALC
QCKSGYFQFN KMDHSCRACE DGYRLENETC MSCPFGLGGL NCGNPYQLIT VVIAAAGGGL
LLILGIALIV TCCRKNKNDI SKLIFKSGDF QMSPYAEYPK NPRSQEWGRE AIEMHENGST
KNLLQMTDVY YSPTSVRNPE LERNGLYPAY TGLPGSRHSC IFPGQYNPSF ISDESRRRDY
F*

speed

0.31 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

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

Problems