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: ENST00000389641
Querying Taster for transcript #2: ENST00000392346
Querying Taster for transcript #3: ENST00000392347
Querying Taster for transcript #4: ENST00000324808
MT speed 0 s - this script 5.523294 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
CCDC57	polymorphism_automatic	4.22994972382185e-13	simple_aae				A135T	single base exchange	rs7406162		show file
CCDC57	polymorphism_automatic	4.22994972382185e-13	simple_aae				A84T	single base exchange	rs7406162		show file
CCDC57	polymorphism_automatic	1.27498012147953e-12	simple_aae				A778T	single base exchange	rs7406162		show file
CCDC57	polymorphism_automatic	1.27498012147953e-12	simple_aae				A778T	single base exchange	rs7406162		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999577 (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)

chr17:80086386C>TN/A show variant in all transcripts IGV

HGNC symbol

CCDC57

Ensembl transcript ID

ENST00000392346

Genbank transcript ID

N/A

UniProt peptide

Q2TAC2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.403G>A
cDNA.950G>A
g.84321G>A

AA changes

A135T Score: 58 explain score(s)

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

135

frameshift

known variant

Reference ID: rs7406162

database	homozygous (T/T)	heterozygous	allele carriers
1000G	504	1098	1602
ExAC	3857	9511	13368

regulatory features

H2BK120ac, Histone, Histone 2B Lysine 120 Acetylation
H2BK20ac, Histone, Histone 2B Lysine 20 Acetylation
H2BK5ac, Histone, Histone 2B Lysine 5 Acetylation
H3K18ac, Histone, Histone 3 Lysine 18 Acetylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4ac, Histone, Histone 3 Lysine 4 Acetylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H4K91ac, Histone, Histone 4 Lysine 91 Acetylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.211	0.002
	-1.171	0
(flanking)	-1.397	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
Donor marginally increased	84325	wt: 0.9890 / mu: 0.9925 (marginal change - not scored)	wt: CGCCCTGCAAGGCCC mu: CACCCTGCAAGGCCC	CCCT\|gcaa
Donor marginally increased	84324	wt: 0.8429 / mu: 0.9257 (marginal change - not scored)	wt: ACGCCCTGCAAGGCC mu: ACACCCTGCAAGGCC	GCCC\|tgca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

135

mutated

not conserved

135

Ptroglodytes

no homologue

Mmulatta

no homologue

Fcatus

no alignment

ENSFCAG00000008326

n/a

Mmusculus

not conserved

ENSMUSG00000048445

858

AEMASRPAQLSQK

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
25	487	COILED	Potential.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1059 / 1059

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

353 / 353

position of stopcodon in wt / mu cDNA

1606 / 1606

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

548 / 548

chromosome

strand

-1

last intron/exon boundary

1185

theoretical NMD boundary in CDS

587

length of CDS

1059

coding sequence (CDS) position

403

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

950

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

84321

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

80086386

original gDNA sequence snippet

AGGTGGGCAGCAGACTTGACGCCCTGCAAGGCCCGAAGGTG

altered gDNA sequence snippet

AGGTGGGCAGCAGACTTGACACCCTGCAAGGCCCGAAGGTG

original cDNA sequence snippet

AGGTGGGCAGCAGACTTGACGCCCTGCAAGGCCCGAAGACA

altered cDNA sequence snippet

AGGTGGGCAGCAGACTTGACACCCTGCAAGGCCCGAAGACA

wildtype AA sequence

MEAEDQGELF LHLRSVARAP QTLSMHRLQR KLKEAARKII SLRLEKEQLI EMGNRLRAEL
GRPERWLLHH ALPPAPEARK PGEEPRRPLD RSPPLGQVQP HFTSQDAKSA EDEAPSRHLG
KHQPRSAQVG SRLDALQGPK TQHSIHTVTC KSPRQKEDRS PKPPQAPQHP EEHGRQSHSS
SSFASGTLQD MWRLLDLGSS PSGVTSQGDS TPEMGSHYVT QAGLELLGSS SPAALASQSA
EMTGVGPTPS LAWSGALHPN MNQEASLVRS TWAPGMRGGM NGGSSSVCKN MQRGPHWSPS
QQPCSGIRTV LLSRKERTLL SCFSLPAPVV LVPLLLSGQA VTERAGHAGD IL*

mutated AA sequence

MEAEDQGELF LHLRSVARAP QTLSMHRLQR KLKEAARKII SLRLEKEQLI EMGNRLRAEL
GRPERWLLHH ALPPAPEARK PGEEPRRPLD RSPPLGQVQP HFTSQDAKSA EDEAPSRHLG
KHQPRSAQVG SRLDTLQGPK TQHSIHTVTC KSPRQKEDRS PKPPQAPQHP EEHGRQSHSS
SSFASGTLQD MWRLLDLGSS PSGVTSQGDS TPEMGSHYVT QAGLELLGSS SPAALASQSA
EMTGVGPTPS LAWSGALHPN MNQEASLVRS TWAPGMRGGM NGGSSSVCKN MQRGPHWSPS
QQPCSGIRTV LLSRKERTLL SCFSLPAPVV LVPLLLSGQA VTERAGHAGD IL*

speed

0.48 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: 0.999999999999577 (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)

chr17:80086386C>TN/A show variant in all transcripts IGV

HGNC symbol

CCDC57

Ensembl transcript ID

ENST00000324808

Genbank transcript ID

N/A

UniProt peptide

Q2TAC2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.250G>A
cDNA.264G>A
g.84321G>A

AA changes

A84T Score: 58 explain score(s)

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

frameshift

known variant

Reference ID: rs7406162

database	homozygous (T/T)	heterozygous	allele carriers
1000G	504	1098	1602
ExAC	3857	9511	13368

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.211	0.002
	-1.171	0
(flanking)	-1.397	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
Donor marginally increased	84325	wt: 0.9890 / mu: 0.9925 (marginal change - not scored)	wt: CGCCCTGCAAGGCCC mu: CACCCTGCAAGGCCC	CCCT\|gcaa
Donor marginally increased	84324	wt: 0.8429 / mu: 0.9257 (marginal change - not scored)	wt: ACGCCCTGCAAGGCC mu: ACACCCTGCAAGGCC	GCCC\|tgca

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 homologue

Mmulatta

no homologue

Fcatus

no alignment

ENSFCAG00000008326

n/a

Mmusculus

not conserved

ENSMUSG00000048445

858

AEMASRPAQLSQK

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
25	487	COILED	Potential.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

906 / 906

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

302 / 302

position of stopcodon in wt / mu cDNA

920 / 920

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

15 / 15

chromosome

strand

-1

last intron/exon boundary

499

theoretical NMD boundary in CDS

434

length of CDS

906

coding sequence (CDS) position

250

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

264

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

84321

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

80086386

original gDNA sequence snippet

AGGTGGGCAGCAGACTTGACGCCCTGCAAGGCCCGAAGGTG

altered gDNA sequence snippet

AGGTGGGCAGCAGACTTGACACCCTGCAAGGCCCGAAGGTG

original cDNA sequence snippet

AGGTGGGCAGCAGACTTGACGCCCTGCAAGGCCCGAAGACA

altered cDNA sequence snippet

AGGTGGGCAGCAGACTTGACACCCTGCAAGGCCCGAAGACA

wildtype AA sequence

MGNRLRAELG RPERWLLHHA LPPAPEARKP GEEPRRPLDR SPPLGQVQPH FTSQDAKSAE
DEAPSRHLGK HQPRSAQVGS RLDALQGPKT QHSIHTVTCK SPRQKEDRSP KPPQAPQHPE
EHGRQSHSSS SFASGTLQDM WRLLDLGSSP SGVTSQGDST PEMGSHYVTQ AGLELLGSSS
PAALASQSAE MTGVGPTPSL AWSGALHPNM NQEASLVRST WAPGMRGGMN GGSSSVCKNM
QRGPHWSPSQ QPCSGIRTVL LSRKERTLLS CFSLPAPVVL VPLLLSGQAV TERAGHAGDI
L*

mutated AA sequence

MGNRLRAELG RPERWLLHHA LPPAPEARKP GEEPRRPLDR SPPLGQVQPH FTSQDAKSAE
DEAPSRHLGK HQPRSAQVGS RLDTLQGPKT QHSIHTVTCK SPRQKEDRSP KPPQAPQHPE
EHGRQSHSSS SFASGTLQDM WRLLDLGSSP SGVTSQGDST PEMGSHYVTQ AGLELLGSSS
PAALASQSAE MTGVGPTPSL AWSGALHPNM NQEASLVRST WAPGMRGGMN GGSSSVCKNM
QRGPHWSPSQ QPCSGIRTVL LSRKERTLLS CFSLPAPVVL VPLLLSGQAV TERAGHAGDI
L*

speed

1.60 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999998725 (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)

chr17:80086386C>TN/A show variant in all transcripts IGV

HGNC symbol

CCDC57

Ensembl transcript ID

ENST00000389641

Genbank transcript ID

NM_198082

UniProt peptide

Q2TAC2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2332G>A
cDNA.2369G>A
g.84321G>A

AA changes

A778T Score: 58 explain score(s)

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

778

frameshift

known variant

Reference ID: rs7406162

database	homozygous (T/T)	heterozygous	allele carriers
1000G	504	1098	1602
ExAC	3857	9511	13368

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.211	0.002
	-1.171	0
(flanking)	-1.397	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
Donor marginally increased	84325	wt: 0.9890 / mu: 0.9925 (marginal change - not scored)	wt: CGCCCTGCAAGGCCC mu: CACCCTGCAAGGCCC	CCCT\|gcaa
Donor marginally increased	84324	wt: 0.8429 / mu: 0.9257 (marginal change - not scored)	wt: ACGCCCTGCAAGGCC mu: ACACCCTGCAAGGCC	GCCC\|tgca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

778

mutated

not conserved

778

Ptroglodytes

no homologue

Mmulatta

no homologue

Fcatus

no alignment

ENSFCAG00000008326

n/a

Mmusculus

not conserved

ENSMUSG00000048445

858

AEMASRPAQLSQK

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

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

2751 / 2751

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

917 / 917

position of stopcodon in wt / mu cDNA

2788 / 2788

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

38 / 38

chromosome

strand

-1

last intron/exon boundary

2604

theoretical NMD boundary in CDS

2516

length of CDS

2751

coding sequence (CDS) position

2332

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

2369

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

84321

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

80086386

original gDNA sequence snippet

AGGTGGGCAGCAGACTTGACGCCCTGCAAGGCCCGAAGGTG

altered gDNA sequence snippet

AGGTGGGCAGCAGACTTGACACCCTGCAAGGCCCGAAGGTG

original cDNA sequence snippet

AGGTGGGCAGCAGACTTGACGCCCTGCAAGGCCCGAAGACA

altered cDNA sequence snippet

AGGTGGGCAGCAGACTTGACACCCTGCAAGGCCCGAAGACA

wildtype AA sequence

MLPLGSEPAL NELLLRKEEE WRALQAHRTQ LQEAALQDTR SQLEEAQGKL RCLQEDFVYN
LQVLEERDLE LERYDAAFAQ AREWEEARRA EVSELKIEAA KLRQALAREA RKVEELQQQQ
QLAFQEHRLE LERVHSDKNG EIDHHREQYE NLKWTLERKL EELDGELALQ RQELLLEFES
KMRKREHEFR LQADNMSNTA LSRELKVKLL HKELEALKEA GAKAAESLQR AEATNAELER
KLQSRAGELQ DLEAMSRARV KDLEDKLHSV QLTRKKEEET FKRKHEELDR LAREKDAVLV
AVKGAHVEQL QELQTRVLEL QAHCETLEAQ LRRAEWRQAD TAKEKDAAID QLREDASTVK
SAWDAQIAQL SKEMVSRDLQ IQTLQEEEVK LKAQVARSQQ DIERYKQQLS LAVERERSLE
RDQVQLGLDW QRRCDDIERD QIQKSEALIQ GLSMAKSQVA AKLQETEQAL QEQEVVLKAV
TLERDQAVQA LRMHGLPRPG AQMLLRQHEE EISKDFPSSE IQRLREQNTS LRNAIAQMRK
EMEALSHQIP PPIQTAAEST DANQPDPEAG GDAATPDYVL ALEAEIRTLK HKFKTLEKHL
EDVLDPLKMS SPHAESQPSV RTSTETTGGS AQAGQAGGSV QAGQAGGSVQ AGPVSSGLAL
RKLGDRVQLL NLLVTRLRQK VLREPLEPAA LQRELPREVD QVHLEVLELR KQVAELGKHL
RIAQHGGAEP SGRKQPPASD AVALGREQDA KSAEDEAPSR HLGKHQPRSA QVGSRLDALQ
GPKTQHSIHT VTCKSPRQKE DRSPKPPQAP QHPEEHGRQS HSSSSFASGT LQDMWRLLDL
GSSPSGVTSQ GDSTPELPAP PAADRRPVKM QAGIATPGMK TAAQAKAKTT GASRSHPAKA
KGCQRPPKIR NYNIMD*

mutated AA sequence

MLPLGSEPAL NELLLRKEEE WRALQAHRTQ LQEAALQDTR SQLEEAQGKL RCLQEDFVYN
LQVLEERDLE LERYDAAFAQ AREWEEARRA EVSELKIEAA KLRQALAREA RKVEELQQQQ
QLAFQEHRLE LERVHSDKNG EIDHHREQYE NLKWTLERKL EELDGELALQ RQELLLEFES
KMRKREHEFR LQADNMSNTA LSRELKVKLL HKELEALKEA GAKAAESLQR AEATNAELER
KLQSRAGELQ DLEAMSRARV KDLEDKLHSV QLTRKKEEET FKRKHEELDR LAREKDAVLV
AVKGAHVEQL QELQTRVLEL QAHCETLEAQ LRRAEWRQAD TAKEKDAAID QLREDASTVK
SAWDAQIAQL SKEMVSRDLQ IQTLQEEEVK LKAQVARSQQ DIERYKQQLS LAVERERSLE
RDQVQLGLDW QRRCDDIERD QIQKSEALIQ GLSMAKSQVA AKLQETEQAL QEQEVVLKAV
TLERDQAVQA LRMHGLPRPG AQMLLRQHEE EISKDFPSSE IQRLREQNTS LRNAIAQMRK
EMEALSHQIP PPIQTAAEST DANQPDPEAG GDAATPDYVL ALEAEIRTLK HKFKTLEKHL
EDVLDPLKMS SPHAESQPSV RTSTETTGGS AQAGQAGGSV QAGQAGGSVQ AGPVSSGLAL
RKLGDRVQLL NLLVTRLRQK VLREPLEPAA LQRELPREVD QVHLEVLELR KQVAELGKHL
RIAQHGGAEP SGRKQPPASD AVALGREQDA KSAEDEAPSR HLGKHQPRSA QVGSRLDTLQ
GPKTQHSIHT VTCKSPRQKE DRSPKPPQAP QHPEEHGRQS HSSSSFASGT LQDMWRLLDL
GSSPSGVTSQ GDSTPELPAP PAADRRPVKM QAGIATPGMK TAAQAKAKTT GASRSHPAKA
KGCQRPPKIR NYNIMD*

speed

1.41 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999998725 (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)

chr17:80086386C>TN/A show variant in all transcripts IGV

HGNC symbol

CCDC57

Ensembl transcript ID

ENST00000392347

Genbank transcript ID

NM_198082

UniProt peptide

Q2TAC2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2332G>A
cDNA.2369G>A
g.84321G>A

AA changes

A778T Score: 58 explain score(s)

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

778

frameshift

known variant

Reference ID: rs7406162

database	homozygous (T/T)	heterozygous	allele carriers
1000G	504	1098	1602
ExAC	3857	9511	13368

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.211	0.002
	-1.171	0
(flanking)	-1.397	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
Donor marginally increased	84325	wt: 0.9890 / mu: 0.9925 (marginal change - not scored)	wt: CGCCCTGCAAGGCCC mu: CACCCTGCAAGGCCC	CCCT\|gcaa
Donor marginally increased	84324	wt: 0.8429 / mu: 0.9257 (marginal change - not scored)	wt: ACGCCCTGCAAGGCC mu: ACACCCTGCAAGGCC	GCCC\|tgca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

778

mutated

not conserved

778

Ptroglodytes

no homologue

Mmulatta

no homologue

Fcatus

no alignment

ENSFCAG00000008326

n/a

Mmusculus

not conserved

ENSMUSG00000048445

858

AEMASRPAQLSQK

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

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

2751 / 2751

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

917 / 917

position of stopcodon in wt / mu cDNA

2788 / 2788

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

38 / 38

chromosome

strand

-1

last intron/exon boundary

2604

theoretical NMD boundary in CDS

2516

length of CDS

2751

coding sequence (CDS) position

2332

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

2369

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

84321

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

80086386

original gDNA sequence snippet

AGGTGGGCAGCAGACTTGACGCCCTGCAAGGCCCGAAGGTG

altered gDNA sequence snippet

AGGTGGGCAGCAGACTTGACACCCTGCAAGGCCCGAAGGTG

original cDNA sequence snippet

AGGTGGGCAGCAGACTTGACGCCCTGCAAGGCCCGAAGACA

altered cDNA sequence snippet

AGGTGGGCAGCAGACTTGACACCCTGCAAGGCCCGAAGACA

wildtype AA sequence

mutated AA sequence

MLPLGSEPAL NELLLRKEEE WRALQAHRTQ LQEAALQDTR SQLEEAQGKL RCLQEDFVYN
LQVLEERDLE LERYDAAFAQ AREWEEARRA EVSELKIEAA KLRQALAREA RKVEELQQQQ
QLAFQEHRLE LERVHSDKNG EIDHHREQYE NLKWTLERKL EELDGELALQ RQELLLEFES
KMRKREHEFR LQADNMSNTA LSRELKVKLL HKELEALKEA GAKAAESLQR AEATNAELER
KLQSRAGELQ DLEAMSRARV KDLEDKLHSV QLTRKKEEET FKRKHEELDR LAREKDAVLV
AVKGAHVEQL QELQTRVLEL QAHCETLEAQ LRRAEWRQAD TAKEKDAAID QLREDASTVK
SAWDAQIAQL SKEMVSRDLQ IQTLQEEEVK LKAQVARSQQ DIERYKQQLS LAVERERSLE
RDQVQLGLDW QRRCDDIERD QIQKSEALIQ GLSMAKSQVA AKLQETEQAL QEQEVVLKAV
TLERDQAVQA LRMHGLPRPG AQMLLRQHEE EISKDFPSSE IQRLREQNTS LRNAIAQMRK
EMEALSHQIP PPIQTAAEST DANQPDPEAG GDAATPDYVL ALEAEIRTLK HKFKTLEKHL
EDVLDPLKMS SPHAESQPSV RTSTETTGGS AQAGQAGGSV QAGQAGGSVQ AGPVSSGLAL
RKLGDRVQLL NLLVTRLRQK VLREPLEPAA LQRELPREVD QVHLEVLELR KQVAELGKHL
RIAQHGGAEP SGRKQPPASD AVALGREQDA KSAEDEAPSR HLGKHQPRSA QVGSRLDTLQ
GPKTQHSIHT VTCKSPRQKE DRSPKPPQAP QHPEEHGRQS HSSSSFASGT LQDMWRLLDL
GSSPSGVTSQ GDSTPELPAP PAADRRPVKM QAGIATPGMK TAAQAKAKTT GASRSHPAKA
KGCQRPPKIR NYNIMD*

speed

1.52 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