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: ENST00000436302
Querying Taster for transcript #2: ENST00000435976
Querying Taster for transcript #3: ENST00000359383
Querying Taster for transcript #4: ENST00000458078
MT speed 0 s - this script 5.360168 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
AGBL3	polymorphism_automatic	7.72049091324334e-13	simple_aae				F45Y	single base exchange	rs2348049		show file
AGBL3	polymorphism_automatic	7.72049091324334e-13	simple_aae				F45Y	single base exchange	rs2348049		show file
AGBL3	polymorphism_automatic	7.72049091324334e-13	simple_aae				F45Y	single base exchange	rs2348049		show file
AGBL3	polymorphism_automatic	7.72049091324334e-13	simple_aae				F19Y	single base exchange	rs2348049		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999228 (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)

chr7:134678253T>AN/A show variant in all transcripts IGV

HGNC symbol

AGBL3

Ensembl transcript ID

ENST00000435976

Genbank transcript ID

N/A

UniProt peptide

Q8NEM8

alteration type

single base exchange

alteration region

CDS

DNA changes

c.134T>A
cDNA.368T>A
g.6995T>A

AA changes

F45Y Score: 22 explain score(s)

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

frameshift

known variant

Reference ID: rs2348049

database	homozygous (A/A)	heterozygous	allele carriers
1000G	165	818	983
ExAC	825	4203	5028

regulatory features

H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.107	0
	0.218	0
(flanking)	0.083	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 decreased	6985	wt: 0.8829 / mu: 0.8352 (marginal change - not scored)	wt: GTGTTTGAATCTTTTTCTCAGCTGACTCTTTTGGTGATCCC mu: GTGTTTGAATCTTTTTCTCAGCTGACTCTTATGGTGATCCC	tcag\|CTGA
Acc marginally increased	6995	wt: 0.3129 / mu: 0.3131 (marginal change - not scored)	wt: CTTTTTCTCAGCTGACTCTTTTGGTGATCCCTTCTTCCCCC mu: CTTTTTCTCAGCTGACTCTTATGGTGATCCCTTCTTCCCCC	cttt\|TGGT
Acc marginally increased	6992	wt: 0.8336 / mu: 0.8557 (marginal change - not scored)	wt: AATCTTTTTCTCAGCTGACTCTTTTGGTGATCCCTTCTTCC mu: AATCTTTTTCTCAGCTGACTCTTATGGTGATCCCTTCTTCC	actc\|TTTT
Acc marginally increased	6998	wt: 0.3449 / mu: 0.3521 (marginal change - not scored)	wt: TTTCTCAGCTGACTCTTTTGGTGATCCCTTCTTCCCCCGGA mu: TTTCTCAGCTGACTCTTATGGTGATCCCTTCTTCCCCCGGA	ttgg\|TGAT

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

all identical

ENSPTRG00000019722

Mmulatta

all identical

ENSMMUG00000006530

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000038836

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no alignment

FBgn0052627

n/a

Celegans

no homologue

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2115 / 2115

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

705 / 705

position of stopcodon in wt / mu cDNA

2349 / 2349

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

235 / 235

chromosome

strand

last intron/exon boundary

2345

theoretical NMD boundary in CDS

2060

length of CDS

2115

coding sequence (CDS) position

134

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

368

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

6995

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

134678253

original gDNA sequence snippet

CTTTTTCTCAGCTGACTCTTTTGGTGATCCCTTCTTCCCCC

altered gDNA sequence snippet

CTTTTTCTCAGCTGACTCTTATGGTGATCCCTTCTTCCCCC

original cDNA sequence snippet

ACTTTTAACAGCTGACTCTTTTGGTGATCCCTTCTTCCCCC

altered cDNA sequence snippet

ACTTTTAACAGCTGACTCTTATGGTGATCCCTTCTTCCCCC

wildtype AA sequence

MSEDSEKEDY SDRTISDEDE SDEDMFMKFV SEDLHRCALL TADSFGDPFF PRTTQILLEY
QLGRWVPRLR EPRDLYGVSS SGPLSPTRWP YHCEVIDEKV QHIDWTPSCP EPVYIPTGLE
TEPLYPDSKE ATVVYLAEDA YKEPCFVYSR VGGNRTPLKQ PVDYRDNTLM FEARFESGNL
QKVVKVAEYE YQLTVRPDLF TNKHTQWYYF QVTNMRAGIV YRFTIVNFTK PASLYSRGMR
PLFYSEKEAK AHHIGWQRIG DQIKYYRNNP GQDGRHYFSL TWTFQFPHNK DTCYFAHCYP
YTYTNLQEYL SGINNDPVRS KFCKIRVLCH TLARNMVYIL TITTPLKNSD SRKRKAVILT
ARVHPGETNS SWIMKGFLDY ILGNSSDAQL LRDTFVFKVV PMLNPDGVIV GNYRCSLAGR
DLNRNYTSLL KESFPSVWYT RNMVHRLMEK REVILYCDLH GHSRKENIFM YGCDGSDRSK
TLYLQQRIFP LMLSKNCPDK FSFSACKFNV QKSKEGTGRV VMWKMGIRNS FTMEATFCGS
TLGNKRGTHF STKDLESMGY HFCDSLLDYC DPDRTKYYRC LKELEEMERH ITLEKVFEDS
DTPVIDITLD VESSSRGSDS SESIDSLTYL LKLTSQKKHL KTKKERNSTI ASHQNARGQE
VYDRGHLLQR HTQSNSDVKD TRPNEPDDYM VDYFRRQLPN QGLV*

mutated AA sequence

MSEDSEKEDY SDRTISDEDE SDEDMFMKFV SEDLHRCALL TADSYGDPFF PRTTQILLEY
QLGRWVPRLR EPRDLYGVSS SGPLSPTRWP YHCEVIDEKV QHIDWTPSCP EPVYIPTGLE
TEPLYPDSKE ATVVYLAEDA YKEPCFVYSR VGGNRTPLKQ PVDYRDNTLM FEARFESGNL
QKVVKVAEYE YQLTVRPDLF TNKHTQWYYF QVTNMRAGIV YRFTIVNFTK PASLYSRGMR
PLFYSEKEAK AHHIGWQRIG DQIKYYRNNP GQDGRHYFSL TWTFQFPHNK DTCYFAHCYP
YTYTNLQEYL SGINNDPVRS KFCKIRVLCH TLARNMVYIL TITTPLKNSD SRKRKAVILT
ARVHPGETNS SWIMKGFLDY ILGNSSDAQL LRDTFVFKVV PMLNPDGVIV GNYRCSLAGR
DLNRNYTSLL KESFPSVWYT RNMVHRLMEK REVILYCDLH GHSRKENIFM YGCDGSDRSK
TLYLQQRIFP LMLSKNCPDK FSFSACKFNV QKSKEGTGRV VMWKMGIRNS FTMEATFCGS
TLGNKRGTHF STKDLESMGY HFCDSLLDYC DPDRTKYYRC LKELEEMERH ITLEKVFEDS
DTPVIDITLD VESSSRGSDS SESIDSLTYL LKLTSQKKHL KTKKERNSTI ASHQNARGQE
VYDRGHLLQR HTQSNSDVKD TRPNEPDDYM VDYFRRQLPN QGLV*

speed

1.43 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: 0.999999999999228 (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)

chr7:134678253T>AN/A show variant in all transcripts IGV

HGNC symbol

AGBL3

Ensembl transcript ID

ENST00000359383

Genbank transcript ID

N/A

UniProt peptide

Q8NEM8

alteration type

single base exchange

alteration region

CDS

DNA changes

c.134T>A
cDNA.387T>A
g.6995T>A

AA changes

F45Y Score: 22 explain score(s)

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

frameshift

known variant

Reference ID: rs2348049

database	homozygous (A/A)	heterozygous	allele carriers
1000G	165	818	983
ExAC	825	4203	5028

regulatory features

H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.107	0
	0.218	0
(flanking)	0.083	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 decreased	6985	wt: 0.8829 / mu: 0.8352 (marginal change - not scored)	wt: GTGTTTGAATCTTTTTCTCAGCTGACTCTTTTGGTGATCCC mu: GTGTTTGAATCTTTTTCTCAGCTGACTCTTATGGTGATCCC	tcag\|CTGA
Acc marginally increased	6995	wt: 0.3129 / mu: 0.3131 (marginal change - not scored)	wt: CTTTTTCTCAGCTGACTCTTTTGGTGATCCCTTCTTCCCCC mu: CTTTTTCTCAGCTGACTCTTATGGTGATCCCTTCTTCCCCC	cttt\|TGGT
Acc marginally increased	6992	wt: 0.8336 / mu: 0.8557 (marginal change - not scored)	wt: AATCTTTTTCTCAGCTGACTCTTTTGGTGATCCCTTCTTCC mu: AATCTTTTTCTCAGCTGACTCTTATGGTGATCCCTTCTTCC	actc\|TTTT
Acc marginally increased	6998	wt: 0.3449 / mu: 0.3521 (marginal change - not scored)	wt: TTTCTCAGCTGACTCTTTTGGTGATCCCTTCTTCCCCCGGA mu: TTTCTCAGCTGACTCTTATGGTGATCCCTTCTTCCCCCGGA	ttgg\|TGAT

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

all identical

ENSPTRG00000019722

Mmulatta

all identical

ENSMMUG00000006530

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000038836

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no alignment

FBgn0052627

n/a

Celegans

no homologue

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

534 / 534

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

178 / 178

position of stopcodon in wt / mu cDNA

787 / 787

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

254 / 254

chromosome

strand

last intron/exon boundary

564

theoretical NMD boundary in CDS

260

length of CDS

534

coding sequence (CDS) position

134

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

387

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

6995

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

134678253

original gDNA sequence snippet

CTTTTTCTCAGCTGACTCTTTTGGTGATCCCTTCTTCCCCC

altered gDNA sequence snippet

CTTTTTCTCAGCTGACTCTTATGGTGATCCCTTCTTCCCCC

original cDNA sequence snippet

ACTTTTAACAGCTGACTCTTTTGGTGATCCCTTCTTCCCCC

altered cDNA sequence snippet

ACTTTTAACAGCTGACTCTTATGGTGATCCCTTCTTCCCCC

wildtype AA sequence

MSEDSEKEDY SDRTISDEDE SDEDMFMKFV SEDLHRCALL TADSFGDPFF PRTTQILLEY
QLGRWVPRLR EPRDLYGVSS SGPLSPTRWP YHCEVIDEKV QHIDGVSCWS ESHQAGAQWC
DLGSLQPPPP RFKRFACFSL LSSRDYRRVP PRSANFVFLV ETGFHHVGQD GLRLLTS*

mutated AA sequence

MSEDSEKEDY SDRTISDEDE SDEDMFMKFV SEDLHRCALL TADSYGDPFF PRTTQILLEY
QLGRWVPRLR EPRDLYGVSS SGPLSPTRWP YHCEVIDEKV QHIDGVSCWS ESHQAGAQWC
DLGSLQPPPP RFKRFACFSL LSSRDYRRVP PRSANFVFLV ETGFHHVGQD GLRLLTS*

speed

1.41 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999228 (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)

chr7:134678253T>AN/A show variant in all transcripts IGV

HGNC symbol

AGBL3

Ensembl transcript ID

ENST00000436302

Genbank transcript ID

NM_178563

UniProt peptide

Q8NEM8

alteration type

single base exchange

alteration region

CDS

DNA changes

c.134T>A
cDNA.387T>A
g.6995T>A

AA changes

F45Y Score: 22 explain score(s)

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

frameshift

known variant

Reference ID: rs2348049

database	homozygous (A/A)	heterozygous	allele carriers
1000G	165	818	983
ExAC	825	4203	5028

regulatory features

H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.107	0
	0.218	0
(flanking)	0.083	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 decreased	6985	wt: 0.8829 / mu: 0.8352 (marginal change - not scored)	wt: GTGTTTGAATCTTTTTCTCAGCTGACTCTTTTGGTGATCCC mu: GTGTTTGAATCTTTTTCTCAGCTGACTCTTATGGTGATCCC	tcag\|CTGA
Acc marginally increased	6995	wt: 0.3129 / mu: 0.3131 (marginal change - not scored)	wt: CTTTTTCTCAGCTGACTCTTTTGGTGATCCCTTCTTCCCCC mu: CTTTTTCTCAGCTGACTCTTATGGTGATCCCTTCTTCCCCC	cttt\|TGGT
Acc marginally increased	6992	wt: 0.8336 / mu: 0.8557 (marginal change - not scored)	wt: AATCTTTTTCTCAGCTGACTCTTTTGGTGATCCCTTCTTCC mu: AATCTTTTTCTCAGCTGACTCTTATGGTGATCCCTTCTTCC	actc\|TTTT
Acc marginally increased	6998	wt: 0.3449 / mu: 0.3521 (marginal change - not scored)	wt: TTTCTCAGCTGACTCTTTTGGTGATCCCTTCTTCCCCCGGA mu: TTTCTCAGCTGACTCTTATGGTGATCCCTTCTTCCCCCGGA	ttgg\|TGAT

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

all identical

ENSPTRG00000019722

Mmulatta

all identical

ENSMMUG00000006530

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000038836

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no alignment

FBgn0052627

n/a

Celegans

no homologue

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2763 / 2763

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

921 / 921

position of stopcodon in wt / mu cDNA

3016 / 3016

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

254 / 254

chromosome

strand

last intron/exon boundary

2596

theoretical NMD boundary in CDS

2292

length of CDS

2763

coding sequence (CDS) position

134

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

387

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

6995

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

134678253

original gDNA sequence snippet

CTTTTTCTCAGCTGACTCTTTTGGTGATCCCTTCTTCCCCC

altered gDNA sequence snippet

CTTTTTCTCAGCTGACTCTTATGGTGATCCCTTCTTCCCCC

original cDNA sequence snippet

ACTTTTAACAGCTGACTCTTTTGGTGATCCCTTCTTCCCCC

altered cDNA sequence snippet

ACTTTTAACAGCTGACTCTTATGGTGATCCCTTCTTCCCCC

wildtype AA sequence

mutated AA sequence

speed

0.51 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999228 (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)

chr7:134678253T>AN/A show variant in all transcripts IGV

HGNC symbol

AGBL3

Ensembl transcript ID

ENST00000458078

Genbank transcript ID

N/A

UniProt peptide

Q8NEM8

alteration type

single base exchange

alteration region

CDS

DNA changes

c.56T>A
cDNA.387T>A
g.6995T>A

AA changes

F19Y Score: 22 explain score(s)

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

frameshift

known variant

Reference ID: rs2348049

database	homozygous (A/A)	heterozygous	allele carriers
1000G	165	818	983
ExAC	825	4203	5028

regulatory features

H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.107	0
	0.218	0
(flanking)	0.083	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 decreased	6985	wt: 0.8829 / mu: 0.8352 (marginal change - not scored)	wt: GTGTTTGAATCTTTTTCTCAGCTGACTCTTTTGGTGATCCC mu: GTGTTTGAATCTTTTTCTCAGCTGACTCTTATGGTGATCCC	tcag\|CTGA
Acc marginally increased	6995	wt: 0.3129 / mu: 0.3131 (marginal change - not scored)	wt: CTTTTTCTCAGCTGACTCTTTTGGTGATCCCTTCTTCCCCC mu: CTTTTTCTCAGCTGACTCTTATGGTGATCCCTTCTTCCCCC	cttt\|TGGT
Acc marginally increased	6992	wt: 0.8336 / mu: 0.8557 (marginal change - not scored)	wt: AATCTTTTTCTCAGCTGACTCTTTTGGTGATCCCTTCTTCC mu: AATCTTTTTCTCAGCTGACTCTTATGGTGATCCCTTCTTCC	actc\|TTTT
Acc marginally increased	6998	wt: 0.3449 / mu: 0.3521 (marginal change - not scored)	wt: TTTCTCAGCTGACTCTTTTGGTGATCCCTTCTTCCCCCGGA mu: TTTCTCAGCTGACTCTTATGGTGATCCCTTCTTCCCCCGGA	ttgg\|TGAT

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

all identical

ENSPTRG00000019722

Mmulatta

all identical

ENSMMUG00000006530

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000038836

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no alignment

FBgn0052627

n/a

Celegans

no homologue

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2928 / 2928

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

976 / 976

position of stopcodon in wt / mu cDNA

3259 / 3259

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

332 / 332

chromosome

strand

last intron/exon boundary

2839

theoretical NMD boundary in CDS

2457

length of CDS

2928

coding sequence (CDS) position

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

387

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

6995

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

134678253

original gDNA sequence snippet

CTTTTTCTCAGCTGACTCTTTTGGTGATCCCTTCTTCCCCC

altered gDNA sequence snippet

CTTTTTCTCAGCTGACTCTTATGGTGATCCCTTCTTCCCCC

original cDNA sequence snippet

ACTTTTAACAGCTGACTCTTTTGGTGATCCCTTCTTCCCCC

altered cDNA sequence snippet

ACTTTTAACAGCTGACTCTTATGGTGATCCCTTCTTCCCCC

wildtype AA sequence

MKFVSEDLHR CALLTADSFG DPFFPRTTQI LLEYQLGRWV PRLREPRDLY GVSSSGPLSP
TRWPYHCEVI DEKVQHIDWT PSCPEPVYIP TGLETEPLYP DSKEATVVYL AEDAYKEPCF
VYSRVGGNRT PLKQPVDYRD NTLMFEARFE SGNLQKVVKV AEYEYQLTVR PDLFTNKHTQ
WYYFQVTNMR AGIVYRFTIV NFTKPASLYS RGMRPLFYSE KEAKAHHIGW QRIGDQIKYY
RNNPGQDGRH YFSLTWTFQF PHNKDTCYFA HCYPYTYTNL QEYLSGINND PVRSKFCKIR
VLCHTLARNM VYILTITTPL KNSDSRKRKA VILTARVHPG ETNSSWIMKG FLDYILGNSS
DAQLLRDTFV FKVVPMLNPD GVIVGNYRCS LAGRDLNRNY TSLLKESFPS VWYTRNMVHR
LMEKREVILY CDLHGHSRKE NIFMYGCDGS DRSKTLYLQQ RIFPLMLSKN CPDKFSFSAC
KFNVQKSKEG TGRVVMWKMG IRNSFTMEAT FCGSTLGNKR GTHFSTKDLE SMGYHFCDSL
LDYCDPDRTK YYRCLKELEE MERHITLEKV FEDSDTPVID ITLDVESSSR GSDSSESIDS
LTYLLKLTSQ KKHLKTKKER NSTIASHQNA RGQEVYDRGH LLQRHTQSNS DVKDTRPNEP
DDYMVDYFRR QLPNQGLAHC KLRLPGSRHS PASASRVAGT TGTRHHTWLI FVFLVEMGKK
IPLKGTDLYG NCFKVTSLQS PMGKQTSTWT EKTRIPTEDL HHNLKSKIKE CISFQSKKTG
INWTDDEKRS YKDKGIVQTQ EILQYLLPIV HSTKNMQTTQ IKQLFNPRTN FQIQHQLNPA
TCRNIKKYST SWTAPRNHPF VIQGDVMANS SEWVQSKPHR SLESLSPLKG PKKNKHSQIW
AIKNEDIKPL SSKWETASSS FGMDANVLKY KSLQAEETNQ QSSKHTALHL TKNKDEQANK
NDGQPTLYLK FQRES*

mutated AA sequence

MKFVSEDLHR CALLTADSYG DPFFPRTTQI LLEYQLGRWV PRLREPRDLY GVSSSGPLSP
TRWPYHCEVI DEKVQHIDWT PSCPEPVYIP TGLETEPLYP DSKEATVVYL AEDAYKEPCF
VYSRVGGNRT PLKQPVDYRD NTLMFEARFE SGNLQKVVKV AEYEYQLTVR PDLFTNKHTQ
WYYFQVTNMR AGIVYRFTIV NFTKPASLYS RGMRPLFYSE KEAKAHHIGW QRIGDQIKYY
RNNPGQDGRH YFSLTWTFQF PHNKDTCYFA HCYPYTYTNL QEYLSGINND PVRSKFCKIR
VLCHTLARNM VYILTITTPL KNSDSRKRKA VILTARVHPG ETNSSWIMKG FLDYILGNSS
DAQLLRDTFV FKVVPMLNPD GVIVGNYRCS LAGRDLNRNY TSLLKESFPS VWYTRNMVHR
LMEKREVILY CDLHGHSRKE NIFMYGCDGS DRSKTLYLQQ RIFPLMLSKN CPDKFSFSAC
KFNVQKSKEG TGRVVMWKMG IRNSFTMEAT FCGSTLGNKR GTHFSTKDLE SMGYHFCDSL
LDYCDPDRTK YYRCLKELEE MERHITLEKV FEDSDTPVID ITLDVESSSR GSDSSESIDS
LTYLLKLTSQ KKHLKTKKER NSTIASHQNA RGQEVYDRGH LLQRHTQSNS DVKDTRPNEP
DDYMVDYFRR QLPNQGLAHC KLRLPGSRHS PASASRVAGT TGTRHHTWLI FVFLVEMGKK
IPLKGTDLYG NCFKVTSLQS PMGKQTSTWT EKTRIPTEDL HHNLKSKIKE CISFQSKKTG
INWTDDEKRS YKDKGIVQTQ EILQYLLPIV HSTKNMQTTQ IKQLFNPRTN FQIQHQLNPA
TCRNIKKYST SWTAPRNHPF VIQGDVMANS SEWVQSKPHR SLESLSPLKG PKKNKHSQIW
AIKNEDIKPL SSKWETASSS FGMDANVLKY KSLQAEETNQ QSSKHTALHL TKNKDEQANK
NDGQPTLYLK FQRES*

speed

0.50 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