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: ENST00000355528
Querying Taster for transcript #2: ENST00000539345
Querying Taster for transcript #3: ENST00000572953
Querying Taster for transcript #4: ENST00000397466
MT speed 0 s - this script 2.701109 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
TBCD	polymorphism_automatic	5.24867604934087e-09	simple_aae		affected		M231T	single base exchange	rs2292971		show file
TBCD	polymorphism_automatic	7.08956904293956e-09	simple_aae		affected		M617T	single base exchange	rs2292971		show file
TBCD	polymorphism_automatic	7.08956904293956e-09	simple_aae		affected		M617T	single base exchange	rs2292971		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999994751324 (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)

chr17:80863857T>CN/A show variant in all transcripts IGV

HGNC symbol

TBCD

Ensembl transcript ID

ENST00000397466

Genbank transcript ID

N/A

UniProt peptide

Q9BTW9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.692T>C
cDNA.1959T>C
g.153918T>C

AA changes

M231T Score: 81 explain score(s)

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

231

frameshift

known variant

Reference ID: rs2292971

database	homozygous (C/C)	heterozygous	allele carriers
1000G	656	1122	1778
ExAC	12240	8287	20527

regulatory features

H2BK5me1, Histone, Histone 2B Lysine 5 mono-methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.6	0.697
	0.362	0.306
(flanking)	-1.798	0.098

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	153915	wt: 0.9701 / mu: 0.9828 (marginal change - not scored)	wt: TCTTCACATGAGGCA mu: TCTTCACACGAGGCA	TTCA\|catg
Donor increased	153918	wt: 0.24 / mu: 0.45	wt: TCACATGAGGCATGG mu: TCACACGAGGCATGG	ACAT\|gagg
Donor marginally increased	153920	wt: 0.9835 / mu: 0.9931 (marginal change - not scored)	wt: ACATGAGGCATGGGT mu: ACACGAGGCATGGGT	ATGA\|ggca
Donor marginally increased	153916	wt: 0.5639 / mu: 0.5833 (marginal change - not scored)	wt: CTTCACATGAGGCAT mu: CTTCACACGAGGCAT	TCAC\|atga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

231

mutated

not conserved

231

Ptroglodytes

not conserved

ENSPTRG00000009811

607

Mmulatta

not conserved

ENSMMUG00000005376

558

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000039230

619

Ggallus

not conserved

ENSGALG00000001503

622

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000040099

614

Dmelanogaster

not conserved

FBgn0027509

611

Celegans

all conserved

F16D3.4

702

ETRISPF

Xtropicalis

not conserved

ENSXETG00000033254

608

protein features

start (aa)	end (aa)	feature	details
361	399	REPEAT	HEAT 1.	might get lost (downstream of altered splice site)
472	472	CONFLICT	W -> C (in Ref. 3; BAA76832).	might get lost (downstream of altered splice site)
557	594	REPEAT	HEAT 2.	might get lost (downstream of altered splice site)
596	632	REPEAT	HEAT 3.	might get lost (downstream of altered splice site)
799	801	CONFLICT	RAV -> GAL (in Ref. 1; CAA07022).	might get lost (downstream of altered splice site)
985	985	CONFLICT	G -> R (in Ref. 1; CAA07022).	might get lost (downstream of altered splice site)
1068	1068	CONFLICT	A -> S (in Ref. 8; AAH12824).	might get lost (downstream of altered splice site)
1075	1075	CONFLICT	C -> V (in Ref. 1; CAA07022).	might get lost (downstream of altered splice site)
1097	1097	CONFLICT	E -> G (in Ref. 1; CAA07022, 3; BAA76832 and 8; AAH03094).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

936 / 936

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

312 / 312

position of stopcodon in wt / mu cDNA

2203 / 2203

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

1268 / 1268

chromosome

strand

last intron/exon boundary

2093

theoretical NMD boundary in CDS

775

length of CDS

936

coding sequence (CDS) position

692

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

1959

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

153918

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

80863857

original gDNA sequence snippet

ACTGAGTCCAGATCTTCACATGAGGCATGGGTCGATTCTCG

altered gDNA sequence snippet

ACTGAGTCCAGATCTTCACACGAGGCATGGGTCGATTCTCG

original cDNA sequence snippet

ACTGAGTCCAGATCTTCACATGAGGCATGGGTCGATTCTCG

altered cDNA sequence snippet

ACTGAGTCCAGATCTTCACACGAGGCATGGGTCGATTCTCG

wildtype AA sequence

MAGRLPRALA DDVVGSVLDC FSFQETDKAW HGGCLALAEL GRRGLLLPSR LVDVVAVILK
ALTYDEKRGA CSVGTNVRDA ACYVCWAFAR AYEPQELKPF VTAISSALVI AAVFDRDINC
RRAASAAFQE NVGRQGTFPH GIDILTTADY FAVGNRSNCF LVISVFIAGF PEYTQPMIDH
LVTMKISHWD GVIRELAARA LHNLAQQAPE FSATQVFPRL LSMTLSPDLH MRHGSILACA
EVAYALYKLA AQENRPVTDH LDEQAVQGLK QIHQQPCICS WGLMSPESKA EFCVCVCRIS
LGRQCVHLSG L*

mutated AA sequence

MAGRLPRALA DDVVGSVLDC FSFQETDKAW HGGCLALAEL GRRGLLLPSR LVDVVAVILK
ALTYDEKRGA CSVGTNVRDA ACYVCWAFAR AYEPQELKPF VTAISSALVI AAVFDRDINC
RRAASAAFQE NVGRQGTFPH GIDILTTADY FAVGNRSNCF LVISVFIAGF PEYTQPMIDH
LVTMKISHWD GVIRELAARA LHNLAQQAPE FSATQVFPRL LSMTLSPDLH TRHGSILACA
EVAYALYKLA AQENRPVTDH LDEQAVQGLK QIHQQPCICS WGLMSPESKA EFCVCVCRIS
LGRQCVHLSG L*

speed

0.30 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: 0.999999992910431 (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)

chr17:80863857T>CN/A show variant in all transcripts IGV

HGNC symbol

TBCD

Ensembl transcript ID

ENST00000355528

Genbank transcript ID

NM_005993

UniProt peptide

Q9BTW9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1850T>C
cDNA.1980T>C
g.153918T>C

AA changes

M617T Score: 81 explain score(s)

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

617

frameshift

known variant

Reference ID: rs2292971

database	homozygous (C/C)	heterozygous	allele carriers
1000G	656	1122	1778
ExAC	12240	8287	20527

regulatory features

H2BK5me1, Histone, Histone 2B Lysine 5 mono-methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.6	0.697
	0.362	0.306
(flanking)	-1.798	0.098

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	153915	wt: 0.9701 / mu: 0.9828 (marginal change - not scored)	wt: TCTTCACATGAGGCA mu: TCTTCACACGAGGCA	TTCA\|catg
Donor increased	153918	wt: 0.24 / mu: 0.45	wt: TCACATGAGGCATGG mu: TCACACGAGGCATGG	ACAT\|gagg
Donor marginally increased	153920	wt: 0.9835 / mu: 0.9931 (marginal change - not scored)	wt: ACATGAGGCATGGGT mu: ACACGAGGCATGGGT	ATGA\|ggca
Donor marginally increased	153916	wt: 0.5639 / mu: 0.5833 (marginal change - not scored)	wt: CTTCACATGAGGCAT mu: CTTCACACGAGGCAT	TCAC\|atga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

617

mutated

not conserved

617

Ptroglodytes

not conserved

ENSPTRG00000009811

607

Mmulatta

not conserved

ENSMMUG00000005376

558

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000039230

619

Ggallus

not conserved

ENSGALG00000001503

622

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000040099

614

Dmelanogaster

not conserved

FBgn0027509

611

Celegans

all conserved

F16D3.4

702

ETRISPF

Xtropicalis

not conserved

ENSXETG00000033254

608

protein features

start (aa)	end (aa)	feature	details
596	632	REPEAT	HEAT 3.	lost
799	801	CONFLICT	RAV -> GAL (in Ref. 1; CAA07022).	might get lost (downstream of altered splice site)
985	985	CONFLICT	G -> R (in Ref. 1; CAA07022).	might get lost (downstream of altered splice site)
1068	1068	CONFLICT	A -> S (in Ref. 8; AAH12824).	might get lost (downstream of altered splice site)
1075	1075	CONFLICT	C -> V (in Ref. 1; CAA07022).	might get lost (downstream of altered splice site)
1097	1097	CONFLICT	E -> G (in Ref. 1; CAA07022, 3; BAA76832 and 8; AAH03094).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3579 / 3579

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

1193 / 1193

position of stopcodon in wt / mu cDNA

3709 / 3709

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

131 / 131

chromosome

strand

last intron/exon boundary

3695

theoretical NMD boundary in CDS

3514

length of CDS

3579

coding sequence (CDS) position

1850

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

1980

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

153918

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

80863857

original gDNA sequence snippet

ACTGAGTCCAGATCTTCACATGAGGCATGGGTCGATTCTCG

altered gDNA sequence snippet

ACTGAGTCCAGATCTTCACACGAGGCATGGGTCGATTCTCG

original cDNA sequence snippet

ACTGAGTCCAGATCTTCACATGAGGCATGGGTCGATTCTCG

altered cDNA sequence snippet

ACTGAGTCCAGATCTTCACACGAGGCATGGGTCGATTCTCG

wildtype AA sequence

MALSDEPAAG GPEEEAEDET LAFGAALEAF GESAETRALL GRLREVHGGG AEREVALERF
RVIMDKYQEQ PHLLDPHLEW MMNLLLDIVQ DQTSPASLVH LAFKFLYIIT KVRGYKTFLR
LFPHEVADVE PVLDLVTIQN PKDHEAWETR YMLLLWLSVT CLIPFDFSRL DGNLLTQPGQ
ARMSIMDRIL QIAESYLIVS DKARDAAAVL VSRFITRPDV KQSKMAEFLD WSLCNLARSS
FQTMQGVITM DGTLQALAQI FKHGKREDCL PYAATVLRCL DGCRLPESNQ TLLRKLGVKL
VQRLGLTFLK PKVAAWRYQR GCRSLAANLQ LLTQGQSEQK PLILTEDDDE DDDVPEGVER
VIEQLLVGLK DKDTVVRWSA AKGIGRMAGR LPRALADDVV GSVLDCFSFQ ETDKAWHGGC
LALAELGRRG LLLPSRLVDV VAVILKALTY DEKRGACSVG TNVRDAACYV CWAFARAYEP
QELKPFVTAI SSALVIAAVF DRDINCRRAA SAAFQENVGR QGTFPHGIDI LTTADYFAVG
NRSNCFLVIS VFIAGFPEYT QPMIDHLVTM KISHWDGVIR ELAARALHNL AQQAPEFSAT
QVFPRLLSMT LSPDLHMRHG SILACAEVAY ALYKLAAQEN RPVTDHLDEQ AVQGLKQIHQ
QLYDRQLYRG LGGQLMRQAV CVLIEKLSLS KMPFRGDTVI DGWQWLINDT LRHLHLISSH
SRQQMKDAAV SALAALCSEY YMKEPGEADP AIQEELITQY LAELRNPEEM TRCGFSLALG
ALPGFLLKGR LQQVLTGLRA VTHTSPEDVS FAESRRDGLK AIARICQTVG VKAGAPDEAV
CGENVSQIYC ALLGCMDDYT TDSRGDVGTW VRKAAMTSLM DLTLLLARSQ PELIEAHTCE
RIMCCVAQQA SEKIDRFRAH AASVFLTLLH FDSPPIPHVP HRGELEKLFP RSDVASVNWS
APSQAFPRIT QLLGLPTYRY HVLLGLVVSL GGLTESTIRH STQSLFEYMK GIQSDPQALG
SFSGTLLQIF EDNLLNERVS VPLLKTLDHV LTHGCFDIFT TEEDHPFAVK LLALCKKEIK
NSKDIQKLLS GIAVFCEMVQ FPGDVRRQAL LQLCLLLCHR FPLIRKTTAS QVYETLLTYS
DVVGADVLDE VVTVLSDTAW DAELAVVREQ RNRLCDLLGV PRPQLVPQPG AC*

mutated AA sequence

MALSDEPAAG GPEEEAEDET LAFGAALEAF GESAETRALL GRLREVHGGG AEREVALERF
RVIMDKYQEQ PHLLDPHLEW MMNLLLDIVQ DQTSPASLVH LAFKFLYIIT KVRGYKTFLR
LFPHEVADVE PVLDLVTIQN PKDHEAWETR YMLLLWLSVT CLIPFDFSRL DGNLLTQPGQ
ARMSIMDRIL QIAESYLIVS DKARDAAAVL VSRFITRPDV KQSKMAEFLD WSLCNLARSS
FQTMQGVITM DGTLQALAQI FKHGKREDCL PYAATVLRCL DGCRLPESNQ TLLRKLGVKL
VQRLGLTFLK PKVAAWRYQR GCRSLAANLQ LLTQGQSEQK PLILTEDDDE DDDVPEGVER
VIEQLLVGLK DKDTVVRWSA AKGIGRMAGR LPRALADDVV GSVLDCFSFQ ETDKAWHGGC
LALAELGRRG LLLPSRLVDV VAVILKALTY DEKRGACSVG TNVRDAACYV CWAFARAYEP
QELKPFVTAI SSALVIAAVF DRDINCRRAA SAAFQENVGR QGTFPHGIDI LTTADYFAVG
NRSNCFLVIS VFIAGFPEYT QPMIDHLVTM KISHWDGVIR ELAARALHNL AQQAPEFSAT
QVFPRLLSMT LSPDLHTRHG SILACAEVAY ALYKLAAQEN RPVTDHLDEQ AVQGLKQIHQ
QLYDRQLYRG LGGQLMRQAV CVLIEKLSLS KMPFRGDTVI DGWQWLINDT LRHLHLISSH
SRQQMKDAAV SALAALCSEY YMKEPGEADP AIQEELITQY LAELRNPEEM TRCGFSLALG
ALPGFLLKGR LQQVLTGLRA VTHTSPEDVS FAESRRDGLK AIARICQTVG VKAGAPDEAV
CGENVSQIYC ALLGCMDDYT TDSRGDVGTW VRKAAMTSLM DLTLLLARSQ PELIEAHTCE
RIMCCVAQQA SEKIDRFRAH AASVFLTLLH FDSPPIPHVP HRGELEKLFP RSDVASVNWS
APSQAFPRIT QLLGLPTYRY HVLLGLVVSL GGLTESTIRH STQSLFEYMK GIQSDPQALG
SFSGTLLQIF EDNLLNERVS VPLLKTLDHV LTHGCFDIFT TEEDHPFAVK LLALCKKEIK
NSKDIQKLLS GIAVFCEMVQ FPGDVRRQAL LQLCLLLCHR FPLIRKTTAS QVYETLLTYS
DVVGADVLDE VVTVLSDTAW DAELAVVREQ RNRLCDLLGV PRPQLVPQPG AC*

speed

0.33 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999992910431 (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)

chr17:80863857T>CN/A show variant in all transcripts IGV

HGNC symbol

TBCD

Ensembl transcript ID

ENST00000539345

Genbank transcript ID

N/A

UniProt peptide

Q9BTW9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1850T>C
cDNA.1886T>C
g.153918T>C

AA changes

M617T Score: 81 explain score(s)

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

617

frameshift

known variant

Reference ID: rs2292971

database	homozygous (C/C)	heterozygous	allele carriers
1000G	656	1122	1778
ExAC	12240	8287	20527

regulatory features

H2BK5me1, Histone, Histone 2B Lysine 5 mono-methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.6	0.697
	0.362	0.306
(flanking)	-1.798	0.098

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	153915	wt: 0.9701 / mu: 0.9828 (marginal change - not scored)	wt: TCTTCACATGAGGCA mu: TCTTCACACGAGGCA	TTCA\|catg
Donor increased	153918	wt: 0.24 / mu: 0.45	wt: TCACATGAGGCATGG mu: TCACACGAGGCATGG	ACAT\|gagg
Donor marginally increased	153920	wt: 0.9835 / mu: 0.9931 (marginal change - not scored)	wt: ACATGAGGCATGGGT mu: ACACGAGGCATGGGT	ATGA\|ggca
Donor marginally increased	153916	wt: 0.5639 / mu: 0.5833 (marginal change - not scored)	wt: CTTCACATGAGGCAT mu: CTTCACACGAGGCAT	TCAC\|atga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

617

mutated

not conserved

617

Ptroglodytes

not conserved

ENSPTRG00000009811

607

Mmulatta

not conserved

ENSMMUG00000005376

558

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000039230

619

Ggallus

not conserved

ENSGALG00000001503

622

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000040099

614

Dmelanogaster

not conserved

FBgn0027509

611

Celegans

all conserved

F16D3.4

702

ETRISPF

Xtropicalis

not conserved

ENSXETG00000033254

608

protein features

start (aa)	end (aa)	feature	details
596	632	REPEAT	HEAT 3.	lost
799	801	CONFLICT	RAV -> GAL (in Ref. 1; CAA07022).	might get lost (downstream of altered splice site)
985	985	CONFLICT	G -> R (in Ref. 1; CAA07022).	might get lost (downstream of altered splice site)
1068	1068	CONFLICT	A -> S (in Ref. 8; AAH12824).	might get lost (downstream of altered splice site)
1075	1075	CONFLICT	C -> V (in Ref. 1; CAA07022).	might get lost (downstream of altered splice site)
1097	1097	CONFLICT	E -> G (in Ref. 1; CAA07022, 3; BAA76832 and 8; AAH03094).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3693 / 3693

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

1231 / 1231

position of stopcodon in wt / mu cDNA

3729 / 3729

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

37 / 37

chromosome

strand

last intron/exon boundary

3715

theoretical NMD boundary in CDS

3628

length of CDS

3693

coding sequence (CDS) position

1850

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

1886

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

153918

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

80863857

original gDNA sequence snippet

ACTGAGTCCAGATCTTCACATGAGGCATGGGTCGATTCTCG

altered gDNA sequence snippet

ACTGAGTCCAGATCTTCACACGAGGCATGGGTCGATTCTCG

original cDNA sequence snippet

ACTGAGTCCAGATCTTCACATGAGGCATGGGTCGATTCTCG

altered cDNA sequence snippet

ACTGAGTCCAGATCTTCACACGAGGCATGGGTCGATTCTCG

wildtype AA sequence

MALSDEPAAG GPEEEAEDET LAFGAALEAF GESAETRALL GRLREVHGGG AEREVALERF
RVIMDKYQEQ PHLLDPHLEW MMNLLLDIVQ DQTSPASLVH LAFKFLYIIT KVRGYKTFLR
LFPHEVADVE PVLDLVTIQN PKDHEAWETR YMLLLWLSVT CLIPFDFSRL DGNLLTQPGQ
ARMSIMDRIL QIAESYLIVS DKARDAAAVL VSRFITRPDV KQSKMAEFLD WSLCNLARSS
FQTMQGVITM DGTLQALAQI FKHGKREDCL PYAATVLRCL DGCRLPESNQ TLLRKLGVKL
VQRLGLTFLK PKVAAWRYQR GCRSLAANLQ LLTQGQSEQK PLILTEDDDE DDDVPEGVER
VIEQLLVGLK DKDTVVRWSA AKGIGRMAGR LPRALADDVV GSVLDCFSFQ ETDKAWHGGC
LALAELGRRG LLLPSRLVDV VAVILKALTY DEKRGACSVG TNVRDAACYV CWAFARAYEP
QELKPFVTAI SSALVIAAVF DRDINCRRAA SAAFQENVGR QGTFPHGIDI LTTADYFAVG
NRSNCFLVIS VFIAGFPEYT QPMIDHLVTM KISHWDGVIR ELAARALHNL AQQAPEFSAT
QVFPRLLSMT LSPDLHMRHG SILACAEVAY ALYKLAAQEN RPVTDHLDEQ AVQGLKQIHQ
QLYDRQLYRG LGGQLMRQAV CVLIEKLSLS KMPFRGDTVI DGWQWLINDT LRHLHLISSH
SRQQMKDAAV SALAALCSEY YMKEPGEADP AIQEELITQY LAELRNPEEM TRCGFSLALG
ALPGFLLKGR LQQVLTGLRA VTHTSPEDVS FAESRRDGLK AIARICQTVG VKAGAPDEAV
CGENVSQIYC ALLGCMDDYT TDSRGDVGTW VRKAAMTSLM DLTLLLARSQ PELIEAHTCE
RIMCCVAQQA SEKIDRFRAH AASVFLTLLH FDSPPIPHVP HRGELEKLFP RSDVASVNWS
APSQAFPRIT QLLGLPTYRY HVLLGLVVSL GGLTESTIRH STQSLFEYMK GIQSDPQALG
SFSGTLLQIF EDNLLNERVS VPLLKTLDHV LTHGCFDIFT TEEDHPFAVK LLALCKKEIK
NSKDIQKLLS GIAVDFPSAT LVCVGTVQMY AHTHLRLGAP GPHCAHGSAL PRFCEMVQFP
GDVRRQALLQ LCLLLCHRFP LIRKTTASQV YETLLTYSDV VGADVLDEVV TVLSDTAWDA
ELAVVREQRN RLCDLLGVPR PQLVPQPGAC *

mutated AA sequence

MALSDEPAAG GPEEEAEDET LAFGAALEAF GESAETRALL GRLREVHGGG AEREVALERF
RVIMDKYQEQ PHLLDPHLEW MMNLLLDIVQ DQTSPASLVH LAFKFLYIIT KVRGYKTFLR
LFPHEVADVE PVLDLVTIQN PKDHEAWETR YMLLLWLSVT CLIPFDFSRL DGNLLTQPGQ
ARMSIMDRIL QIAESYLIVS DKARDAAAVL VSRFITRPDV KQSKMAEFLD WSLCNLARSS
FQTMQGVITM DGTLQALAQI FKHGKREDCL PYAATVLRCL DGCRLPESNQ TLLRKLGVKL
VQRLGLTFLK PKVAAWRYQR GCRSLAANLQ LLTQGQSEQK PLILTEDDDE DDDVPEGVER
VIEQLLVGLK DKDTVVRWSA AKGIGRMAGR LPRALADDVV GSVLDCFSFQ ETDKAWHGGC
LALAELGRRG LLLPSRLVDV VAVILKALTY DEKRGACSVG TNVRDAACYV CWAFARAYEP
QELKPFVTAI SSALVIAAVF DRDINCRRAA SAAFQENVGR QGTFPHGIDI LTTADYFAVG
NRSNCFLVIS VFIAGFPEYT QPMIDHLVTM KISHWDGVIR ELAARALHNL AQQAPEFSAT
QVFPRLLSMT LSPDLHTRHG SILACAEVAY ALYKLAAQEN RPVTDHLDEQ AVQGLKQIHQ
QLYDRQLYRG LGGQLMRQAV CVLIEKLSLS KMPFRGDTVI DGWQWLINDT LRHLHLISSH
SRQQMKDAAV SALAALCSEY YMKEPGEADP AIQEELITQY LAELRNPEEM TRCGFSLALG
ALPGFLLKGR LQQVLTGLRA VTHTSPEDVS FAESRRDGLK AIARICQTVG VKAGAPDEAV
CGENVSQIYC ALLGCMDDYT TDSRGDVGTW VRKAAMTSLM DLTLLLARSQ PELIEAHTCE
RIMCCVAQQA SEKIDRFRAH AASVFLTLLH FDSPPIPHVP HRGELEKLFP RSDVASVNWS
APSQAFPRIT QLLGLPTYRY HVLLGLVVSL GGLTESTIRH STQSLFEYMK GIQSDPQALG
SFSGTLLQIF EDNLLNERVS VPLLKTLDHV LTHGCFDIFT TEEDHPFAVK LLALCKKEIK
NSKDIQKLLS GIAVDFPSAT LVCVGTVQMY AHTHLRLGAP GPHCAHGSAL PRFCEMVQFP
GDVRRQALLQ LCLLLCHRFP LIRKTTASQV YETLLTYSDV VGADVLDEVV TVLSDTAWDA
ELAVVREQRN RLCDLLGVPR PQLVPQPGAC *

speed

0.34 s

Problems

annotation problem

The chosen transcript ENST00000572953 on chromosome 17 has no correct in-frame stop codon (TGA, TAA or TAG) annotated
This is likely to cause a false prediction. You should choose another transcript.

back to results table