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 4 transcript(s)...
Querying Taster for transcript #1: ENST00000395665
Querying Taster for transcript #2: ENST00000308799
Querying Taster for transcript #3: ENST00000301938
Querying Taster for transcript #4: ENST00000395667
MT speed 0 s - this script 3.070069 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
FBXW10	polymorphism_automatic	6.16200424019553e-11	simple_aae		affected		E236K	single base exchange	rs9895749		show file
FBXW10	polymorphism_automatic	6.16200424019553e-11	simple_aae		affected		E236K	single base exchange	rs9895749		show file
FBXW10	polymorphism_automatic	6.16200424019553e-11	simple_aae		affected		E236K	single base exchange	rs9895749		show file
FBXW10	polymorphism_automatic	6.16200424019553e-11	simple_aae		affected		E236K	single base exchange	rs9895749		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.99999999993838 (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
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr17:18653070G>AN/A show variant in all transcripts IGV

HGNC symbol

FBXW10

Ensembl transcript ID

ENST00000395665

Genbank transcript ID

N/A

UniProt peptide

Q5XX13

alteration type

single base exchange

alteration region

CDS

DNA changes

c.706G>A
cDNA.927G>A
g.5745G>A

AA changes

E236K Score: 56 explain score(s)

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

236

frameshift

known variant

Reference ID: rs9895749

database	homozygous (A/A)	heterozygous	allele carriers
1000G	-	-	-
ExAC	5030	22707	27737

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-1.408	0
	0.584	0.005
(flanking)	0.347	0.006

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
Donor marginally increased	5749	wt: 0.9402 / mu: 0.9833 (marginal change - not scored)	wt: CGAAATGAATAGGCT mu: CAAAATGAATAGGCT	AAAT\|gaat
Donor marginally increased	5747	wt: 0.2023 / mu: 0.2358 (marginal change - not scored)	wt: TCCGAAATGAATAGG mu: TCCAAAATGAATAGG	CGAA\|atga
Donor increased	5742	wt: 0.41 / mu: 0.47	wt: GTATATCCGAAATGA mu: GTATATCCAAAATGA	ATAT\|ccga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

236

mutated

all conserved

236

Ptroglodytes

no alignment

ENSPTRG00000008801

n/a

Mmulatta

all identical

ENSMMUG00000019200

236

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000090173

241

Ggallus

no alignment

ENSGALG00000001323

n/a

Trubripes

no homologue

Drerio

no alignment

ENSDARG00000086484

n/a

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000031311

217

protein features

start (aa)	end (aa)	feature	details
236	236	CONFLICT	E -> K (in Ref. 2; CAB66756).	lost
275	275	CONFLICT	R -> L (in Ref. 1; AAU43731 and 4; AAH28364).	might get lost (downstream of altered splice site)
276	323	DOMAIN	F-box.	might get lost (downstream of altered splice site)
409	447	REPEAT	WD 2.	might get lost (downstream of altered splice site)
413	413	CONFLICT	D -> V (in Ref. 2; CAB66756).	might get lost (downstream of altered splice site)
451	490	REPEAT	WD 3.	might get lost (downstream of altered splice site)
493	532	REPEAT	WD 4.	might get lost (downstream of altered splice site)
534	569	REPEAT	WD 5.	might get lost (downstream of altered splice site)
572	609	REPEAT	WD 6.	might get lost (downstream of altered splice site)
611	652	REPEAT	WD 7.	might get lost (downstream of altered splice site)
638	638	CONFLICT	R -> L (in Ref. 1; AAU43731).	might get lost (downstream of altered splice site)
690	719	COILED	Potential.	might get lost (downstream of altered splice site)
986	1010	COILED	Potential.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3159 / 3159

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

1053 / 1053

position of stopcodon in wt / mu cDNA

3380 / 3380

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

222 / 222

chromosome

strand

last intron/exon boundary

2557

theoretical NMD boundary in CDS

2285

length of CDS

3159

coding sequence (CDS) position

706

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

927

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

5745

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

18653070

original gDNA sequence snippet

ATTCACTCCGGTGTATATCCGAAATGAATAGGCTGTTTTCT

altered gDNA sequence snippet

ATTCACTCCGGTGTATATCCAAAATGAATAGGCTGTTTTCT

original cDNA sequence snippet

ATTCACTCCGGTGTATATCCGAAATGAATAGGCTGTTTTCT

altered cDNA sequence snippet

ATTCACTCCGGTGTATATCCAAAATGAATAGGCTGTTTTCT

wildtype AA sequence

MENLESRLKN APYFRCEKGT DSIPLCRKCE TCVLAWKIFS TKEWFCRIND ISQRRFLVGI
LKQLNSLYLL HYFQNILQTT QGKDFIYNRS RINLSKKEGK VVKSSLNQML DKTVEQKMKE
ILYWFANSTQ WTKANYTLLL LQMCNPKLLL TAANVIRVLF LREENNISGL NQDITDVCFS
PEKDHSSKSA TSQVYWTAKT QHTSLPLSKA PENEHLLGAA SNPEEPWRNS LRCISEMNRL
FSGKGDITKP GYDPCNLLVD LDDIRDLSSG FSKYRDFIRY LPIHLSKYIL RMLDRHTLNK
CASVSQHWAA MAQQVKMDLS AHGFIQNQIT FLQGSYTRGI DPNYANKVSI PVPKMVDDGK
SMRVKHPKWK LRTKNEYNLW TAYQNEETQQ VLIEERNVFC GTYNVRILSD TWDQNRVIHY
SGGDLIAVSS NRKIHLLDII QVKAIPVEFR GHAGSVRALF LCEEENFLLS GSYDLSIRYW
DLKSGVCTRI FGGHQGTITC MDLCKNRLVS GGRDCQVKVW DVDTGKCLKT FRHKDPILAT
RINDTYIVSS CERGLVKVWH IAMAQLVKTL SGHEGAVKCL FFDQWHLLSG STDGLVMAWS
MVGKYERCLM AFKHPKEVLD VSLLFLRVIS ACADGKIRIY NFLNGNCMKV LKANGRGDPV
LSFFIQGNRM VVNTESNVLM FQFEHIKWQY AVEKTKQKKN KEKEEEKEEN SLMEILSKCN
IQVHSPRESV SSKQTVIQEL LPGKPPKSRV LLKPAKFSSA VLIEELQSQG KSKSPRRDAD
DVEKAQKQGQ LETPGKLPSH PKKKSWKIPM SPDQFLLTVS ALQHAHNSGE FAYPCRPQTE
ITDVWGPSIS YPRKVLNFKG KSIQRAVDRL RLSNPPIDVK RTSIPLEIQK LQPNLKISLH
SPRVQSTIPQ PMIIRSRFSG SLKGGDQVTS SIERAVCSTG PLTSMQVIKP NRMLAPQVGT
ATLSLKKERP RIYTALDPFR VNTEFVLLTV KEEKEHQEAK MKEYQAREST GVVDPGKVSK
AAWIRKIKGL PIDNFTKQGK TAAPELGQNV FI*

mutated AA sequence

MENLESRLKN APYFRCEKGT DSIPLCRKCE TCVLAWKIFS TKEWFCRIND ISQRRFLVGI
LKQLNSLYLL HYFQNILQTT QGKDFIYNRS RINLSKKEGK VVKSSLNQML DKTVEQKMKE
ILYWFANSTQ WTKANYTLLL LQMCNPKLLL TAANVIRVLF LREENNISGL NQDITDVCFS
PEKDHSSKSA TSQVYWTAKT QHTSLPLSKA PENEHLLGAA SNPEEPWRNS LRCISKMNRL
FSGKGDITKP GYDPCNLLVD LDDIRDLSSG FSKYRDFIRY LPIHLSKYIL RMLDRHTLNK
CASVSQHWAA MAQQVKMDLS AHGFIQNQIT FLQGSYTRGI DPNYANKVSI PVPKMVDDGK
SMRVKHPKWK LRTKNEYNLW TAYQNEETQQ VLIEERNVFC GTYNVRILSD TWDQNRVIHY
SGGDLIAVSS NRKIHLLDII QVKAIPVEFR GHAGSVRALF LCEEENFLLS GSYDLSIRYW
DLKSGVCTRI FGGHQGTITC MDLCKNRLVS GGRDCQVKVW DVDTGKCLKT FRHKDPILAT
RINDTYIVSS CERGLVKVWH IAMAQLVKTL SGHEGAVKCL FFDQWHLLSG STDGLVMAWS
MVGKYERCLM AFKHPKEVLD VSLLFLRVIS ACADGKIRIY NFLNGNCMKV LKANGRGDPV
LSFFIQGNRM VVNTESNVLM FQFEHIKWQY AVEKTKQKKN KEKEEEKEEN SLMEILSKCN
IQVHSPRESV SSKQTVIQEL LPGKPPKSRV LLKPAKFSSA VLIEELQSQG KSKSPRRDAD
DVEKAQKQGQ LETPGKLPSH PKKKSWKIPM SPDQFLLTVS ALQHAHNSGE FAYPCRPQTE
ITDVWGPSIS YPRKVLNFKG KSIQRAVDRL RLSNPPIDVK RTSIPLEIQK LQPNLKISLH
SPRVQSTIPQ PMIIRSRFSG SLKGGDQVTS SIERAVCSTG PLTSMQVIKP NRMLAPQVGT
ATLSLKKERP RIYTALDPFR VNTEFVLLTV KEEKEHQEAK MKEYQAREST GVVDPGKVSK
AAWIRKIKGL PIDNFTKQGK TAAPELGQNV FI*

speed

0.41 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: 0.99999999993838 (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
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr17:18653070G>AN/A show variant in all transcripts IGV

HGNC symbol

FBXW10

Ensembl transcript ID

ENST00000308799

Genbank transcript ID

N/A

UniProt peptide

Q5XX13

alteration type

single base exchange

alteration region

CDS

DNA changes

c.706G>A
cDNA.925G>A
g.5745G>A

AA changes

E236K Score: 56 explain score(s)

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

236

frameshift

known variant

Reference ID: rs9895749

database	homozygous (A/A)	heterozygous	allele carriers
1000G	-	-	-
ExAC	5030	22707	27737

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-1.408	0
	0.584	0.005
(flanking)	0.347	0.006

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
Donor marginally increased	5749	wt: 0.9402 / mu: 0.9833 (marginal change - not scored)	wt: CGAAATGAATAGGCT mu: CAAAATGAATAGGCT	AAAT\|gaat
Donor marginally increased	5747	wt: 0.2023 / mu: 0.2358 (marginal change - not scored)	wt: TCCGAAATGAATAGG mu: TCCAAAATGAATAGG	CGAA\|atga
Donor increased	5742	wt: 0.41 / mu: 0.47	wt: GTATATCCGAAATGA mu: GTATATCCAAAATGA	ATAT\|ccga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

236

mutated

all conserved

236

Ptroglodytes

no alignment

ENSPTRG00000008801

n/a

Mmulatta

all identical

ENSMMUG00000019200

236

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000090173

241

Ggallus

no alignment

ENSGALG00000001323

n/a

Trubripes

no homologue

Drerio

no alignment

ENSDARG00000086484

n/a

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000031311

217

protein features

start (aa)	end (aa)	feature	details
236	236	CONFLICT	E -> K (in Ref. 2; CAB66756).	lost
275	275	CONFLICT	R -> L (in Ref. 1; AAU43731 and 4; AAH28364).	might get lost (downstream of altered splice site)
276	323	DOMAIN	F-box.	might get lost (downstream of altered splice site)
409	447	REPEAT	WD 2.	might get lost (downstream of altered splice site)
413	413	CONFLICT	D -> V (in Ref. 2; CAB66756).	might get lost (downstream of altered splice site)
451	490	REPEAT	WD 3.	might get lost (downstream of altered splice site)
493	532	REPEAT	WD 4.	might get lost (downstream of altered splice site)
534	569	REPEAT	WD 5.	might get lost (downstream of altered splice site)
572	609	REPEAT	WD 6.	might get lost (downstream of altered splice site)
611	652	REPEAT	WD 7.	might get lost (downstream of altered splice site)
638	638	CONFLICT	R -> L (in Ref. 1; AAU43731).	might get lost (downstream of altered splice site)
690	719	COILED	Potential.	might get lost (downstream of altered splice site)
986	1010	COILED	Potential.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3186 / 3186

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

1062 / 1062

position of stopcodon in wt / mu cDNA

3405 / 3405

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

220 / 220

chromosome

strand

last intron/exon boundary

2585

theoretical NMD boundary in CDS

2315

length of CDS

3186

coding sequence (CDS) position

706

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

925

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

5745

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

18653070

original gDNA sequence snippet

ATTCACTCCGGTGTATATCCGAAATGAATAGGCTGTTTTCT

altered gDNA sequence snippet

ATTCACTCCGGTGTATATCCAAAATGAATAGGCTGTTTTCT

original cDNA sequence snippet

ATTCACTCCGGTGTATATCCGAAATGAATAGGCTGTTTTCT

altered cDNA sequence snippet

ATTCACTCCGGTGTATATCCAAAATGAATAGGCTGTTTTCT

wildtype AA sequence

MENLESRLKN APYFRCEKGT DSIPLCRKCE TCVLAWKIFS TKEWFCRIND ISQRRFLVGI
LKQLNSLYLL HYFQNILQTT QGKDFIYNRS RINLSKKEGK VVKSSLNQML DKTVEQKMKE
ILYWFANSTQ WTKANYTLLL LQMCNPKLLL TAANVIRVLF LREENNISGL NQDITDVCFS
PEKDHSSKSA TSQVYWTAKT QHTSLPLSKA PENEHLLGAA SNPEEPWRNS LRCISEMNRL
FSGKGDITKP GYDPCNLLVD LDDIRDLSSG FSKYRDFIRY LPIHLSKYIL SMLGCMRGFP
RHLPSWPSSG VSGSIFFFPG MLDRHTLNKC ASVSQHWAAM AQQVKMDLSA HGFIQNQITF
LQGSYTRGID PNYANKVSIP VPKMVDDGKS MRVKHPKWKL RTKNEYNLWT AYQNEETQQV
LIEERNVFCG TYNVRILSDT WDQNRVIHYS GGDLIAVSSN RKIHLLDIIQ VKAIPVEFRG
HAGSVRALFL CEEENFLLSG SYDLSIRYWD LKSGVCTRIF GGHQGTITCM DLCKNRLVSG
GRDCQVKVWD VDTGKCLKTF RHKDPILATR INDTYIVSSC ERGLVKVWHI AMAQLVKTLS
GHEGAVKCLF FDQWHLLSGS TDGLVMAWSM VGKYERCLMA FKHPKEVLDV SLLFLRVISA
CADGKIRIYN FLNGNCMKVL KANGRGDPVL SFFIQGNRMV VNTESNVLMF QFEHIKWQYA
VEKTKQKKNK EKEEEKEENS LMEILSKCNI QVHSPRESVS SKQTVIQELL PGKPPKSRVL
LKPAKFSSDD VEKAQKQGQL ETPGKLPSHP KKKSWKIPMS PDQFLLTVSA LQHAHNSGEF
AYPCRPQTEI TDVWGPSISY PRKVLNFKGK SIQRAVDRLR LSNPPIDVKR TSIPLEIQKL
QPNLKISLHS PRVQSTIPQP MIIRSRFSGS LKGGDQVTSS IERAVCSTGP LTSMQVIKPN
RMLAPQVGTA TLSLKKERPR IYTALDPFRV NTEFVLLTVK EEKEHQEAKM KEYQARESTG
VVDPGKVSKA AWIRKIKGLP IDNFTKQGKT AAPELGQNVF I*

mutated AA sequence

MENLESRLKN APYFRCEKGT DSIPLCRKCE TCVLAWKIFS TKEWFCRIND ISQRRFLVGI
LKQLNSLYLL HYFQNILQTT QGKDFIYNRS RINLSKKEGK VVKSSLNQML DKTVEQKMKE
ILYWFANSTQ WTKANYTLLL LQMCNPKLLL TAANVIRVLF LREENNISGL NQDITDVCFS
PEKDHSSKSA TSQVYWTAKT QHTSLPLSKA PENEHLLGAA SNPEEPWRNS LRCISKMNRL
FSGKGDITKP GYDPCNLLVD LDDIRDLSSG FSKYRDFIRY LPIHLSKYIL SMLGCMRGFP
RHLPSWPSSG VSGSIFFFPG MLDRHTLNKC ASVSQHWAAM AQQVKMDLSA HGFIQNQITF
LQGSYTRGID PNYANKVSIP VPKMVDDGKS MRVKHPKWKL RTKNEYNLWT AYQNEETQQV
LIEERNVFCG TYNVRILSDT WDQNRVIHYS GGDLIAVSSN RKIHLLDIIQ VKAIPVEFRG
HAGSVRALFL CEEENFLLSG SYDLSIRYWD LKSGVCTRIF GGHQGTITCM DLCKNRLVSG
GRDCQVKVWD VDTGKCLKTF RHKDPILATR INDTYIVSSC ERGLVKVWHI AMAQLVKTLS
GHEGAVKCLF FDQWHLLSGS TDGLVMAWSM VGKYERCLMA FKHPKEVLDV SLLFLRVISA
CADGKIRIYN FLNGNCMKVL KANGRGDPVL SFFIQGNRMV VNTESNVLMF QFEHIKWQYA
VEKTKQKKNK EKEEEKEENS LMEILSKCNI QVHSPRESVS SKQTVIQELL PGKPPKSRVL
LKPAKFSSDD VEKAQKQGQL ETPGKLPSHP KKKSWKIPMS PDQFLLTVSA LQHAHNSGEF
AYPCRPQTEI TDVWGPSISY PRKVLNFKGK SIQRAVDRLR LSNPPIDVKR TSIPLEIQKL
QPNLKISLHS PRVQSTIPQP MIIRSRFSGS LKGGDQVTSS IERAVCSTGP LTSMQVIKPN
RMLAPQVGTA TLSLKKERPR IYTALDPFRV NTEFVLLTVK EEKEHQEAKM KEYQARESTG
VVDPGKVSKA AWIRKIKGLP IDNFTKQGKT AAPELGQNVF I*

speed

0.40 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.99999999993838 (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
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr17:18653070G>AN/A show variant in all transcripts IGV

HGNC symbol

FBXW10

Ensembl transcript ID

ENST00000301938

Genbank transcript ID

NM_001267586

UniProt peptide

Q5XX13

alteration type

single base exchange

alteration region

CDS

DNA changes

c.706G>A
cDNA.876G>A
g.5745G>A

AA changes

E236K Score: 56 explain score(s)

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

236

frameshift

known variant

Reference ID: rs9895749

database	homozygous (A/A)	heterozygous	allele carriers
1000G	-	-	-
ExAC	5030	22707	27737

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-1.408	0
	0.584	0.005
(flanking)	0.347	0.006

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
Donor marginally increased	5749	wt: 0.9402 / mu: 0.9833 (marginal change - not scored)	wt: CGAAATGAATAGGCT mu: CAAAATGAATAGGCT	AAAT\|gaat
Donor marginally increased	5747	wt: 0.2023 / mu: 0.2358 (marginal change - not scored)	wt: TCCGAAATGAATAGG mu: TCCAAAATGAATAGG	CGAA\|atga
Donor increased	5742	wt: 0.41 / mu: 0.47	wt: GTATATCCGAAATGA mu: GTATATCCAAAATGA	ATAT\|ccga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

236

mutated

all conserved

236

Ptroglodytes

no alignment

ENSPTRG00000008801

n/a

Mmulatta

all identical

ENSMMUG00000019200

236

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000090173

241

Ggallus

no alignment

ENSGALG00000001323

n/a

Trubripes

no homologue

Drerio

no alignment

ENSDARG00000086484

n/a

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000031311

217

protein features

start (aa)	end (aa)	feature	details
236	236	CONFLICT	E -> K (in Ref. 2; CAB66756).	lost
275	275	CONFLICT	R -> L (in Ref. 1; AAU43731 and 4; AAH28364).	might get lost (downstream of altered splice site)
276	323	DOMAIN	F-box.	might get lost (downstream of altered splice site)
409	447	REPEAT	WD 2.	might get lost (downstream of altered splice site)
413	413	CONFLICT	D -> V (in Ref. 2; CAB66756).	might get lost (downstream of altered splice site)
451	490	REPEAT	WD 3.	might get lost (downstream of altered splice site)
493	532	REPEAT	WD 4.	might get lost (downstream of altered splice site)
534	569	REPEAT	WD 5.	might get lost (downstream of altered splice site)
572	609	REPEAT	WD 6.	might get lost (downstream of altered splice site)
611	652	REPEAT	WD 7.	might get lost (downstream of altered splice site)
638	638	CONFLICT	R -> L (in Ref. 1; AAU43731).	might get lost (downstream of altered splice site)
690	719	COILED	Potential.	might get lost (downstream of altered splice site)
986	1010	COILED	Potential.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3000 / 3000

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

1000 / 1000

position of stopcodon in wt / mu cDNA

3170 / 3170

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

171 / 171

chromosome

strand

last intron/exon boundary

2347

theoretical NMD boundary in CDS

2126

length of CDS

3000

coding sequence (CDS) position

706

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

876

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

5745

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

18653070

original gDNA sequence snippet

ATTCACTCCGGTGTATATCCGAAATGAATAGGCTGTTTTCT

altered gDNA sequence snippet

ATTCACTCCGGTGTATATCCAAAATGAATAGGCTGTTTTCT

original cDNA sequence snippet

ATTCACTCCGGTGTATATCCGAAATGAATAGGCTGTTTTCT

altered cDNA sequence snippet

ATTCACTCCGGTGTATATCCAAAATGAATAGGCTGTTTTCT

wildtype AA sequence

MENLESRLKN APYFRCEKGT DSIPLCRKCE TCVLAWKIFS TKEWFCRIND ISQRRFLVGI
LKQLNSLYLL HYFQNILQTT QGKDFIYNRS RINLSKKEGK VVKSSLNQML DKTVEQKMKE
ILYWFANSTQ WTKANYTLLL LQMCNPKLLL TAANVIRVLF LREENNISGL NQDITDVCFS
PEKDHSSKSA TSQVYWTAKT QHTSLPLSKA PENEHLLGAA SNPEEPWRNS LRCISEMNRL
FSGKGDITKP GYDPCNLLVD LDDIRDLSSG FSKYRDFIRY LPIHLSKYIL RMLDRHTLNK
CASVSQHWAA MAQQVKMDLS AHGFIQNQIT FLQGSYTRGI DPNYANKVSI PVPKMVDDGK
SMRVKHPKWK LRTKNEYNLW TAYQNEETQQ VLIEERNVFC GTYNVRILSD TWDQNRVIHY
SGGDLIAVSS NRKIHLLDII QVKAIPVEFR GHAGSVRALF LCEEENFLLS GSYDLSIRYW
DLKSGVCTRI FGGHQGTITC MDLCKNRLVS GGRDCQVKVW DVDTGKCLKT FRHKDPILAT
RINDTYIVSS CERGLVKVWH IAMAQLVKTL SGHEGAVKCL FFDQWHLLSG STDGLVMAWS
MVGKYERCLM AFKHPKMVVN TESNVLMFQF EHIKWQYAVE KTKQKKNKEK EEEKEENSLM
EILSKCNIQV HSPRESVSSK QTVIQELLPG KPPKSRVLLK PAKFSSAVLI EELQSQGKSK
SPRRDADDVE KAQKQGQLET PGKLPSHPKK KSWKIPMSPD QFLLTVSALQ HAHNSGEFAY
PCRPQTEITD VWGPSISYPR KVLNFKGKSI QRAVDRLRLS NPPIDVKRTS IPLEIQKLQP
NLKISLHSPR VQSTIPQPMI IRSRFSGSLK GGDQVTSSIE RAVCSTGPLT SMQVIKPNRM
LAPQVGTATL SLKKERPRIY TALDPFRVNT EFVLLTVKEE KEHQEAKMKE YQARESTGVV
DPGKVSKAAW IRKIKGLPID NFTKQGKTAA PELGQNVFI*

mutated AA sequence

MENLESRLKN APYFRCEKGT DSIPLCRKCE TCVLAWKIFS TKEWFCRIND ISQRRFLVGI
LKQLNSLYLL HYFQNILQTT QGKDFIYNRS RINLSKKEGK VVKSSLNQML DKTVEQKMKE
ILYWFANSTQ WTKANYTLLL LQMCNPKLLL TAANVIRVLF LREENNISGL NQDITDVCFS
PEKDHSSKSA TSQVYWTAKT QHTSLPLSKA PENEHLLGAA SNPEEPWRNS LRCISKMNRL
FSGKGDITKP GYDPCNLLVD LDDIRDLSSG FSKYRDFIRY LPIHLSKYIL RMLDRHTLNK
CASVSQHWAA MAQQVKMDLS AHGFIQNQIT FLQGSYTRGI DPNYANKVSI PVPKMVDDGK
SMRVKHPKWK LRTKNEYNLW TAYQNEETQQ VLIEERNVFC GTYNVRILSD TWDQNRVIHY
SGGDLIAVSS NRKIHLLDII QVKAIPVEFR GHAGSVRALF LCEEENFLLS GSYDLSIRYW
DLKSGVCTRI FGGHQGTITC MDLCKNRLVS GGRDCQVKVW DVDTGKCLKT FRHKDPILAT
RINDTYIVSS CERGLVKVWH IAMAQLVKTL SGHEGAVKCL FFDQWHLLSG STDGLVMAWS
MVGKYERCLM AFKHPKMVVN TESNVLMFQF EHIKWQYAVE KTKQKKNKEK EEEKEENSLM
EILSKCNIQV HSPRESVSSK QTVIQELLPG KPPKSRVLLK PAKFSSAVLI EELQSQGKSK
SPRRDADDVE KAQKQGQLET PGKLPSHPKK KSWKIPMSPD QFLLTVSALQ HAHNSGEFAY
PCRPQTEITD VWGPSISYPR KVLNFKGKSI QRAVDRLRLS NPPIDVKRTS IPLEIQKLQP
NLKISLHSPR VQSTIPQPMI IRSRFSGSLK GGDQVTSSIE RAVCSTGPLT SMQVIKPNRM
LAPQVGTATL SLKKERPRIY TALDPFRVNT EFVLLTVKEE KEHQEAKMKE YQARESTGVV
DPGKVSKAAW IRKIKGLPID NFTKQGKTAA PELGQNVFI*

speed

0.36 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.99999999993838 (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
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr17:18653070G>AN/A show variant in all transcripts IGV

HGNC symbol

FBXW10

Ensembl transcript ID

ENST00000395667

Genbank transcript ID

NM_001267585

UniProt peptide

Q5XX13

alteration type

single base exchange

alteration region

CDS

DNA changes

c.706G>A
cDNA.938G>A
g.5745G>A

AA changes

E236K Score: 56 explain score(s)

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

236

frameshift

known variant

Reference ID: rs9895749

database	homozygous (A/A)	heterozygous	allele carriers
1000G	-	-	-
ExAC	5030	22707	27737

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-1.408	0
	0.584	0.005
(flanking)	0.347	0.006

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
Donor marginally increased	5749	wt: 0.9402 / mu: 0.9833 (marginal change - not scored)	wt: CGAAATGAATAGGCT mu: CAAAATGAATAGGCT	AAAT\|gaat
Donor marginally increased	5747	wt: 0.2023 / mu: 0.2358 (marginal change - not scored)	wt: TCCGAAATGAATAGG mu: TCCAAAATGAATAGG	CGAA\|atga
Donor increased	5742	wt: 0.41 / mu: 0.47	wt: GTATATCCGAAATGA mu: GTATATCCAAAATGA	ATAT\|ccga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

236

mutated

all conserved

236

Ptroglodytes

no alignment

ENSPTRG00000008801

n/a

Mmulatta

all identical

ENSMMUG00000019200

236

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000090173

241

Ggallus

no alignment

ENSGALG00000001323

n/a

Trubripes

no homologue

Drerio

no alignment

ENSDARG00000086484

n/a

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000031311

217

protein features

start (aa)	end (aa)	feature	details
236	236	CONFLICT	E -> K (in Ref. 2; CAB66756).	lost
275	275	CONFLICT	R -> L (in Ref. 1; AAU43731 and 4; AAH28364).	might get lost (downstream of altered splice site)
276	323	DOMAIN	F-box.	might get lost (downstream of altered splice site)
409	447	REPEAT	WD 2.	might get lost (downstream of altered splice site)
413	413	CONFLICT	D -> V (in Ref. 2; CAB66756).	might get lost (downstream of altered splice site)
451	490	REPEAT	WD 3.	might get lost (downstream of altered splice site)
493	532	REPEAT	WD 4.	might get lost (downstream of altered splice site)
534	569	REPEAT	WD 5.	might get lost (downstream of altered splice site)
572	609	REPEAT	WD 6.	might get lost (downstream of altered splice site)
611	652	REPEAT	WD 7.	might get lost (downstream of altered splice site)
638	638	CONFLICT	R -> L (in Ref. 1; AAU43731).	might get lost (downstream of altered splice site)
690	719	COILED	Potential.	might get lost (downstream of altered splice site)
986	1010	COILED	Potential.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3156 / 3156

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

1052 / 1052

position of stopcodon in wt / mu cDNA

3388 / 3388

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

233 / 233

chromosome

strand

last intron/exon boundary

2568

theoretical NMD boundary in CDS

2285

length of CDS

3156

coding sequence (CDS) position

706

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

938

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

5745

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

18653070

original gDNA sequence snippet

ATTCACTCCGGTGTATATCCGAAATGAATAGGCTGTTTTCT

altered gDNA sequence snippet

ATTCACTCCGGTGTATATCCAAAATGAATAGGCTGTTTTCT

original cDNA sequence snippet

ATTCACTCCGGTGTATATCCGAAATGAATAGGCTGTTTTCT

altered cDNA sequence snippet

ATTCACTCCGGTGTATATCCAAAATGAATAGGCTGTTTTCT

wildtype AA sequence

MENLESRLKN APYFRCEKGT DSIPLCRKCE TCVLAWKIFS TKEWFCRIND ISQRRFLVGI
LKQLNSLYLL HYFQNILQTT QGKDFIYNRS RINLSKKEGK VVKSSLNQML DKTVEQKMKE
ILYWFANSTQ WTKANYTLLL LQMCNPKLLL TAANVIRVLF LREENNISGL NQDITDVCFS
PEKDHSSKSA TSQVYWTAKT QHTSLPLSKA PENEHLLGAA SNPEEPWRNS LRCISEMNRL
FSGKGDITKP GYDPCNLLVD LDDIRDLSSG FSKYRDFIRY LPIHLSKYIL RMLDRHTLNK
CASVSQHWAA MAQQVKMDLS AHGFIQNQIT FLQGSYTRGI DPNYANKVSI PVPKMVDDGK
SMRVKHPKWK LRTKNEYNLW TAYQNEETQQ VLIEERNVFC GTYNVRILSD TWDQNRVIHY
SGGDLIAVSS NRKIHLLDII QVKAIPVEFR GHAGSVRALF LCEEENFLLS GSYDLSIRYW
DLKSGVCTRI FGGHQGTITC MDLCKNRLVS GGRDCQVKVW DVDTGKCLKT FRHKDPILAT
RINDTYIVSS CERGLVKVWH IAMAQLVKTL SGHEGAVKCL FFDQWHLLSG STDGLVMAWS
MVGKYERCLM AFKHPKEVLD VSLLFLRVIS ACADGKIRIY NFLNGNCMKV LKANGRGDPV
LSFFIQGNRM VVNTESNVLM FQFEHIKWQY AVEKTKQKKN KEKEEEKEEN SLMEILSKCN
IQVHSPRESV SSKQTVIQEL LPGKPPKSRV LLKPAKFSSA VLIEELQSQG KSKSPRRDDD
VEKAQKQGQL ETPGKLPSHP KKKSWKIPMS PDQFLLTVSA LQHAHNSGEF AYPCRPQTEI
TDVWGPSISY PRKVLNFKGK SIQRAVDRLR LSNPPIDVKR TSIPLEIQKL QPNLKISLHS
PRVQSTIPQP MIIRSRFSGS LKGGDQVTSS IERAVCSTGP LTSMQVIKPN RMLAPQVGTA
TLSLKKERPR IYTALDPFRV NTEFVLLTVK EEKEHQEAKM KEYQARESTG VVDPGKVSKA
AWIRKIKGLP IDNFTKQGKT AAPELGQNVF I*

mutated AA sequence

MENLESRLKN APYFRCEKGT DSIPLCRKCE TCVLAWKIFS TKEWFCRIND ISQRRFLVGI
LKQLNSLYLL HYFQNILQTT QGKDFIYNRS RINLSKKEGK VVKSSLNQML DKTVEQKMKE
ILYWFANSTQ WTKANYTLLL LQMCNPKLLL TAANVIRVLF LREENNISGL NQDITDVCFS
PEKDHSSKSA TSQVYWTAKT QHTSLPLSKA PENEHLLGAA SNPEEPWRNS LRCISKMNRL
FSGKGDITKP GYDPCNLLVD LDDIRDLSSG FSKYRDFIRY LPIHLSKYIL RMLDRHTLNK
CASVSQHWAA MAQQVKMDLS AHGFIQNQIT FLQGSYTRGI DPNYANKVSI PVPKMVDDGK
SMRVKHPKWK LRTKNEYNLW TAYQNEETQQ VLIEERNVFC GTYNVRILSD TWDQNRVIHY
SGGDLIAVSS NRKIHLLDII QVKAIPVEFR GHAGSVRALF LCEEENFLLS GSYDLSIRYW
DLKSGVCTRI FGGHQGTITC MDLCKNRLVS GGRDCQVKVW DVDTGKCLKT FRHKDPILAT
RINDTYIVSS CERGLVKVWH IAMAQLVKTL SGHEGAVKCL FFDQWHLLSG STDGLVMAWS
MVGKYERCLM AFKHPKEVLD VSLLFLRVIS ACADGKIRIY NFLNGNCMKV LKANGRGDPV
LSFFIQGNRM VVNTESNVLM FQFEHIKWQY AVEKTKQKKN KEKEEEKEEN SLMEILSKCN
IQVHSPRESV SSKQTVIQEL LPGKPPKSRV LLKPAKFSSA VLIEELQSQG KSKSPRRDDD
VEKAQKQGQL ETPGKLPSHP KKKSWKIPMS PDQFLLTVSA LQHAHNSGEF AYPCRPQTEI
TDVWGPSISY PRKVLNFKGK SIQRAVDRLR LSNPPIDVKR TSIPLEIQKL QPNLKISLHS
PRVQSTIPQP MIIRSRFSGS LKGGDQVTSS IERAVCSTGP LTSMQVIKPN RMLAPQVGTA
TLSLKKERPR IYTALDPFRV NTEFVLLTVK EEKEHQEAKM KEYQARESTG VVDPGKVSKA
AWIRKIKGLP IDNFTKQGKT AAPELGQNVF I*

speed

0.21 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

Problems