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 3 transcript(s)...
Querying Taster for transcript #1: ENST00000409134
Querying Taster for transcript #2: ENST00000553117
Querying Taster for transcript #3: ENST00000447989
MT speed 0 s - this script 4.393275 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
ALDH7A1	disease_causing_automatic	0.999999999877829	simple_aae		affected	0	A199V	single base exchange	rs121912709		show file
ALDH7A1	disease_causing_automatic	0.999999999877829	simple_aae		affected	0	A199V	single base exchange	rs121912709		show file
ALDH7A1	disease_causing_automatic	0.999999999877829	simple_aae		affected	0	A226V	single base exchange	rs121912709		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999877829 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM060820)
known disease mutation: rs17998 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr5:125912825G>AN/A show variant in all transcripts IGV

HGNC symbol

ALDH7A1

Ensembl transcript ID

ENST00000409134

Genbank transcript ID

NM_001182

UniProt peptide

P49419

alteration type

single base exchange

alteration region

CDS

DNA changes

c.596C>T
cDNA.816C>T
g.18286C>T

AA changes

A199V Score: 64 explain score(s)

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

199

frameshift

known variant

Reference ID: rs121912709
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs17998 (pathogenic for Pyridoxine-dependent epilepsy) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM060820)

known disease mutation at this position, please check HGMD for details (HGMD ID CM060820)
known disease mutation at this position, please check HGMD for details (HGMD ID CM060820)

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-4.051	0.004
	4.302	0.999
(flanking)	4.296	1

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 increased	18288	wt: 0.25 / mu: 0.27	wt: CATTCAATTTCCCTGTGGCAGTGTATGGTTGGAACAACGCC mu: CATTCAATTTCCCTGTGGTAGTGTATGGTTGGAACAACGCC	gcag\|TGTA
Acc increased	18285	wt: 0.61 / mu: 0.70	wt: CGGCATTCAATTTCCCTGTGGCAGTGTATGGTTGGAACAAC mu: CGGCATTCAATTTCCCTGTGGTAGTGTATGGTTGGAACAAC	gtgg\|CAGT

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

199

mutated

not conserved

199

Ptroglodytes

no homologue

Mmulatta

all identical

ENSMMUG00000002489

171

Fcatus

all identical

ENSFCAG00000011621

171

Mmusculus

all identical

ENSMUSG00000053644

199

Ggallus

all identical

ENSGALG00000008229

196

Trubripes

all identical

ENSTRUG00000017585

207

Drerio

all identical

ENSDARG00000018426

201

Dmelanogaster

all identical

FBgn0036857

197

Celegans

all identical

F01F1.6

189

Xtropicalis

all identical

ENSXETG00000005191

199

protein features

start (aa)	end (aa)	feature	details
199	210	HELIX		lost
214	218	STRAND		might get lost (downstream of altered splice site)
221	223	HELIX		might get lost (downstream of altered splice site)
224	240	HELIX		might get lost (downstream of altered splice site)
245	247	HELIX		might get lost (downstream of altered splice site)
248	251	STRAND		might get lost (downstream of altered splice site)
255	263	HELIX		might get lost (downstream of altered splice site)
268	274	STRAND		might get lost (downstream of altered splice site)
274	279	NP_BIND	NAD (By similarity).	might get lost (downstream of altered splice site)
276	288	HELIX		might get lost (downstream of altered splice site)
292	296	STRAND		might get lost (downstream of altered splice site)
296	296	ACT_SITE	Proton acceptor (By similarity).	might get lost (downstream of altered splice site)
301	305	STRAND		might get lost (downstream of altered splice site)
311	323	HELIX		might get lost (downstream of altered splice site)
324	327	HELIX		might get lost (downstream of altered splice site)
330	330	ACT_SITE	Nucleophile.	might get lost (downstream of altered splice site)
333	339	STRAND		might get lost (downstream of altered splice site)
340	342	TURN		might get lost (downstream of altered splice site)
343	355	HELIX		might get lost (downstream of altered splice site)
375	390	HELIX		might get lost (downstream of altered splice site)
394	397	STRAND		might get lost (downstream of altered splice site)
403	407	STRAND		might get lost (downstream of altered splice site)
412	416	STRAND		might get lost (downstream of altered splice site)
422	425	HELIX		might get lost (downstream of altered splice site)
429	438	STRAND		might get lost (downstream of altered splice site)
441	449	HELIX		might get lost (downstream of altered splice site)
455	460	STRAND		might get lost (downstream of altered splice site)
464	471	HELIX		might get lost (downstream of altered splice site)
478	485	STRAND		might get lost (downstream of altered splice site)
494	496	STRAND		might get lost (downstream of altered splice site)
500	502	HELIX		might get lost (downstream of altered splice site)
507	509	STRAND		might get lost (downstream of altered splice site)
512	516	HELIX		might get lost (downstream of altered splice site)
517	525	STRAND		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1620 / 1620

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

540 / 540

position of stopcodon in wt / mu cDNA

1840 / 1840

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

221 / 221

chromosome

strand

-1

last intron/exon boundary

1786

theoretical NMD boundary in CDS

1515

length of CDS

1620

coding sequence (CDS) position

596

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

816

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

18286

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

125912825

original gDNA sequence snippet

GGCATTCAATTTCCCTGTGGCAGTGTATGGTTGGAACAACG

altered gDNA sequence snippet

GGCATTCAATTTCCCTGTGGTAGTGTATGGTTGGAACAACG

original cDNA sequence snippet

GGCATTCAATTTCCCTGTGGCAGTGTATGGTTGGAACAACG

altered cDNA sequence snippet

GGCATTCAATTTCCCTGTGGTAGTGTATGGTTGGAACAACG

wildtype AA sequence

MWRLPRALCV HAAKTSKLSG PWSRPAAFMS TLLINQPQYA WLKELGLREE NEGVYNGSWG
GRGEVITTYC PANNEPIARV RQASVADYEE TVKKAREAWK IWADIPAPKR GEIVRQIGDA
LREKIQVLGS LVSLEMGKIL VEGVGEVQEY VDICDYAVGL SRMIGGPILP SERSGHALIE
QWNPVGLVGI ITAFNFPVAV YGWNNAIAMI CGNVCLWKGA PTTSLISVAV TKIIAKVLED
NKLPGAICSL TCGGADIGTA MAKDERVNLL SFTGSTQVGK QVGLMVQERF GRSLLELGGN
NAIIAFEDAD LSLVVPSALF AAVGTAGQRC TTARRLFIHE SIHDEVVNRL KKAYAQIRVG
NPWDPNVLYG PLHTKQAVSM FLGAVEEAKK EGGTVVYGGK VMDRPGNYVE PTIVTGLGHD
ASIAHTETFA PILYVFKFKN EEEVFAWNNE VKQGLSSSIF TKDLGRIFRW LGPKGSDCGI
VNVNIPTSGA EIGGAFGGEK HTGGGRESGS DAWKQYMRRS TCTINYSKDL PLAQGIKFQ*

mutated AA sequence

MWRLPRALCV HAAKTSKLSG PWSRPAAFMS TLLINQPQYA WLKELGLREE NEGVYNGSWG
GRGEVITTYC PANNEPIARV RQASVADYEE TVKKAREAWK IWADIPAPKR GEIVRQIGDA
LREKIQVLGS LVSLEMGKIL VEGVGEVQEY VDICDYAVGL SRMIGGPILP SERSGHALIE
QWNPVGLVGI ITAFNFPVVV YGWNNAIAMI CGNVCLWKGA PTTSLISVAV TKIIAKVLED
NKLPGAICSL TCGGADIGTA MAKDERVNLL SFTGSTQVGK QVGLMVQERF GRSLLELGGN
NAIIAFEDAD LSLVVPSALF AAVGTAGQRC TTARRLFIHE SIHDEVVNRL KKAYAQIRVG
NPWDPNVLYG PLHTKQAVSM FLGAVEEAKK EGGTVVYGGK VMDRPGNYVE PTIVTGLGHD
ASIAHTETFA PILYVFKFKN EEEVFAWNNE VKQGLSSSIF TKDLGRIFRW LGPKGSDCGI
VNVNIPTSGA EIGGAFGGEK HTGGGRESGS DAWKQYMRRS TCTINYSKDL PLAQGIKFQ*

speed

1.21 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

disease causing

Model: simple_aae, prob: 0.999999999877829 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM060820)
known disease mutation: rs17998 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr5:125912825G>AN/A show variant in all transcripts IGV

HGNC symbol

ALDH7A1

Ensembl transcript ID

ENST00000553117

Genbank transcript ID

N/A

UniProt peptide

P49419

alteration type

single base exchange

alteration region

CDS

DNA changes

c.596C>T
cDNA.734C>T
g.18286C>T

AA changes

A199V Score: 64 explain score(s)

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

199

frameshift

known variant

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-4.051	0.004
	4.302	0.999
(flanking)	4.296	1

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 increased	18288	wt: 0.25 / mu: 0.27	wt: CATTCAATTTCCCTGTGGCAGTGTATGGTTGGAACAACGCC mu: CATTCAATTTCCCTGTGGTAGTGTATGGTTGGAACAACGCC	gcag\|TGTA
Acc increased	18285	wt: 0.61 / mu: 0.70	wt: CGGCATTCAATTTCCCTGTGGCAGTGTATGGTTGGAACAAC mu: CGGCATTCAATTTCCCTGTGGTAGTGTATGGTTGGAACAAC	gtgg\|CAGT

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

199

mutated

not conserved

199

Ptroglodytes

no homologue

Mmulatta

all identical

ENSMMUG00000002489

171

Fcatus

all identical

ENSFCAG00000011621

171

Mmusculus

all identical

ENSMUSG00000053644

199

Ggallus

all identical

ENSGALG00000008229

196

Trubripes

all identical

ENSTRUG00000017585

207

Drerio

all identical

ENSDARG00000018426

201

Dmelanogaster

all identical

FBgn0036857

197

Celegans

all identical

F01F1.6

189

Xtropicalis

all identical

ENSXETG00000005191

199

protein features

start (aa)	end (aa)	feature	details
199	210	HELIX		lost
214	218	STRAND		might get lost (downstream of altered splice site)
221	223	HELIX		might get lost (downstream of altered splice site)
224	240	HELIX		might get lost (downstream of altered splice site)
245	247	HELIX		might get lost (downstream of altered splice site)
248	251	STRAND		might get lost (downstream of altered splice site)
255	263	HELIX		might get lost (downstream of altered splice site)
268	274	STRAND		might get lost (downstream of altered splice site)
274	279	NP_BIND	NAD (By similarity).	might get lost (downstream of altered splice site)
276	288	HELIX		might get lost (downstream of altered splice site)
292	296	STRAND		might get lost (downstream of altered splice site)
296	296	ACT_SITE	Proton acceptor (By similarity).	might get lost (downstream of altered splice site)
301	305	STRAND		might get lost (downstream of altered splice site)
311	323	HELIX		might get lost (downstream of altered splice site)
324	327	HELIX		might get lost (downstream of altered splice site)
330	330	ACT_SITE	Nucleophile.	might get lost (downstream of altered splice site)
333	339	STRAND		might get lost (downstream of altered splice site)
340	342	TURN		might get lost (downstream of altered splice site)
343	355	HELIX		might get lost (downstream of altered splice site)
375	390	HELIX		might get lost (downstream of altered splice site)
394	397	STRAND		might get lost (downstream of altered splice site)
403	407	STRAND		might get lost (downstream of altered splice site)
412	416	STRAND		might get lost (downstream of altered splice site)
422	425	HELIX		might get lost (downstream of altered splice site)
429	438	STRAND		might get lost (downstream of altered splice site)
441	449	HELIX		might get lost (downstream of altered splice site)
455	460	STRAND		might get lost (downstream of altered splice site)
464	471	HELIX		might get lost (downstream of altered splice site)
478	485	STRAND		might get lost (downstream of altered splice site)
494	496	STRAND		might get lost (downstream of altered splice site)
500	502	HELIX		might get lost (downstream of altered splice site)
507	509	STRAND		might get lost (downstream of altered splice site)
512	516	HELIX		might get lost (downstream of altered splice site)
517	525	STRAND		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1428 / 1428

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

476 / 476

position of stopcodon in wt / mu cDNA

1566 / 1566

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

139 / 139

chromosome

strand

-1

last intron/exon boundary

1512

theoretical NMD boundary in CDS

1323

length of CDS

1428

coding sequence (CDS) position

596

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

734

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

18286

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

125912825

original gDNA sequence snippet

GGCATTCAATTTCCCTGTGGCAGTGTATGGTTGGAACAACG

altered gDNA sequence snippet

GGCATTCAATTTCCCTGTGGTAGTGTATGGTTGGAACAACG

original cDNA sequence snippet

GGCATTCAATTTCCCTGTGGCAGTGTATGGTTGGAACAACG

altered cDNA sequence snippet

GGCATTCAATTTCCCTGTGGTAGTGTATGGTTGGAACAACG

wildtype AA sequence

MWRLPRALCV HAAKTSKLSG PWSRPAAFMS TLLINQPQYA WLKELGLREE NEGVYNGSWG
GRGEVITTYC PANNEPIARV RQASVADYEE TVKKAREAWK IWADIPAPKR GEIVRQIGDA
LREKIQVLGS LVSLEMGKIL VEGVGEVQEY VDICDYAVGL SRMIGGPILP SERSGHALIE
QWNPVGLVGI ITAFNFPVAV YGWNNAIAMI CGNVCLWKGA PTTSLISVAV TKIIAKVLED
NKLPGAICSL TCGGADIGTA MAKDERVNLL SFTGSTQVGK QVGLMVQERF GRSLLELGGN
NAIIAFEDAD LSLVVPSALF AAVGTAGQRC TTARRLVMDR PGNYVEPTIV TGLGHDASIA
HTETFAPILY VFKFKNEEEV FAWNNEVKQG LSSSIFTKDL GRIFRWLGPK GSDCGIVNVN
IPTSGAEIGG AFGGEKHTGG GRESGSDAWK QYMRRSTCTI NYSKDLPLAQ GIKFQ*

mutated AA sequence

MWRLPRALCV HAAKTSKLSG PWSRPAAFMS TLLINQPQYA WLKELGLREE NEGVYNGSWG
GRGEVITTYC PANNEPIARV RQASVADYEE TVKKAREAWK IWADIPAPKR GEIVRQIGDA
LREKIQVLGS LVSLEMGKIL VEGVGEVQEY VDICDYAVGL SRMIGGPILP SERSGHALIE
QWNPVGLVGI ITAFNFPVVV YGWNNAIAMI CGNVCLWKGA PTTSLISVAV TKIIAKVLED
NKLPGAICSL TCGGADIGTA MAKDERVNLL SFTGSTQVGK QVGLMVQERF GRSLLELGGN
NAIIAFEDAD LSLVVPSALF AAVGTAGQRC TTARRLVMDR PGNYVEPTIV TGLGHDASIA
HTETFAPILY VFKFKNEEEV FAWNNEVKQG LSSSIFTKDL GRIFRWLGPK GSDCGIVNVN
IPTSGAEIGG AFGGEKHTGG GRESGSDAWK QYMRRSTCTI NYSKDLPLAQ GIKFQ*

speed

1.00 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999877829 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM060820)
known disease mutation: rs17998 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr5:125912825G>AN/A show variant in all transcripts IGV

HGNC symbol

ALDH7A1

Ensembl transcript ID

ENST00000447989

Genbank transcript ID

NM_001202404

UniProt peptide

P49419

alteration type

single base exchange

alteration region

CDS

DNA changes

c.677C>T
cDNA.734C>T
g.18286C>T

AA changes

A226V Score: 64 explain score(s)

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

226

frameshift

known variant

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-4.051	0.004
	4.302	0.999
(flanking)	4.296	1

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 increased	18288	wt: 0.25 / mu: 0.27	wt: CATTCAATTTCCCTGTGGCAGTGTATGGTTGGAACAACGCC mu: CATTCAATTTCCCTGTGGTAGTGTATGGTTGGAACAACGCC	gcag\|TGTA
Acc increased	18285	wt: 0.61 / mu: 0.70	wt: CGGCATTCAATTTCCCTGTGGCAGTGTATGGTTGGAACAAC mu: CGGCATTCAATTTCCCTGTGGTAGTGTATGGTTGGAACAAC	gtgg\|CAGT

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

226

mutated

not conserved

226

Ptroglodytes

no homologue

Mmulatta

all identical

ENSMMUG00000002489

171

Fcatus

all identical

ENSFCAG00000011621

171

Mmusculus

all identical

ENSMUSG00000053644

199

Ggallus

all identical

ENSGALG00000008229

196

Trubripes

all identical

ENSTRUG00000017585

207

Drerio

all identical

ENSDARG00000018426

201

Dmelanogaster

all identical

FBgn0036857

197

Celegans

all identical

F01F1.6

189

Xtropicalis

all identical

ENSXETG00000005191

199

protein features

start (aa)	end (aa)	feature	details
224	240	HELIX		lost
245	247	HELIX		might get lost (downstream of altered splice site)
248	251	STRAND		might get lost (downstream of altered splice site)
255	263	HELIX		might get lost (downstream of altered splice site)
268	274	STRAND		might get lost (downstream of altered splice site)
274	279	NP_BIND	NAD (By similarity).	might get lost (downstream of altered splice site)
276	288	HELIX		might get lost (downstream of altered splice site)
292	296	STRAND		might get lost (downstream of altered splice site)
296	296	ACT_SITE	Proton acceptor (By similarity).	might get lost (downstream of altered splice site)
301	305	STRAND		might get lost (downstream of altered splice site)
311	323	HELIX		might get lost (downstream of altered splice site)
324	327	HELIX		might get lost (downstream of altered splice site)
330	330	ACT_SITE	Nucleophile.	might get lost (downstream of altered splice site)
333	339	STRAND		might get lost (downstream of altered splice site)
340	342	TURN		might get lost (downstream of altered splice site)
343	355	HELIX		might get lost (downstream of altered splice site)
375	390	HELIX		might get lost (downstream of altered splice site)
394	397	STRAND		might get lost (downstream of altered splice site)
403	407	STRAND		might get lost (downstream of altered splice site)
412	416	STRAND		might get lost (downstream of altered splice site)
422	425	HELIX		might get lost (downstream of altered splice site)
429	438	STRAND		might get lost (downstream of altered splice site)
441	449	HELIX		might get lost (downstream of altered splice site)
455	460	STRAND		might get lost (downstream of altered splice site)
464	471	HELIX		might get lost (downstream of altered splice site)
478	485	STRAND		might get lost (downstream of altered splice site)
494	496	STRAND		might get lost (downstream of altered splice site)
500	502	HELIX		might get lost (downstream of altered splice site)
507	509	STRAND		might get lost (downstream of altered splice site)
512	516	HELIX		might get lost (downstream of altered splice site)
517	525	STRAND		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1509 / 1509

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

503 / 503

position of stopcodon in wt / mu cDNA

1566 / 1566

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

58 / 58

chromosome

strand

-1

last intron/exon boundary

1512

theoretical NMD boundary in CDS

1404

length of CDS

1509

coding sequence (CDS) position

677

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

734

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

18286

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

125912825

original gDNA sequence snippet

GGCATTCAATTTCCCTGTGGCAGTGTATGGTTGGAACAACG

altered gDNA sequence snippet

GGCATTCAATTTCCCTGTGGTAGTGTATGGTTGGAACAACG

original cDNA sequence snippet

GGCATTCAATTTCCCTGTGGCAGTGTATGGTTGGAACAACG

altered cDNA sequence snippet

GGCATTCAATTTCCCTGTGGTAGTGTATGGTTGGAACAACG

wildtype AA sequence

MGSPGRGAGL YFSSSQGLGL IPSPGLSMWR LPRALCVHAA KTSKLSGPWS RPAAFMSTLL
INQPQYAWLK ELGLREENEG VYNGSWGGRG EVITTYCPAN NEPIARVRQA SVADYEETVK
KAREAWKIWA DIPAPKRGEI VRQIGDALRE KIQVLGSLVS LEMGKILVEG VGEVQEYVDI
CDYAVGLSRM IGGPILPSER SGHALIEQWN PVGLVGIITA FNFPVAVYGW NNAIAMICGN
VCLWKGAPTT SLISVAVTKI IAKVLEDNKL PGAICSLTCG GADIGTAMAK DERVNLLSFT
GSTQVGKQVG LMVQERFGRS LLELGGNNAI IAFEDADLSL VVPSALFAAV GTAGQRCTTA
RRLVMDRPGN YVEPTIVTGL GHDASIAHTE TFAPILYVFK FKNEEEVFAW NNEVKQGLSS
SIFTKDLGRI FRWLGPKGSD CGIVNVNIPT SGAEIGGAFG GEKHTGGGRE SGSDAWKQYM
RRSTCTINYS KDLPLAQGIK FQ*

mutated AA sequence

MGSPGRGAGL YFSSSQGLGL IPSPGLSMWR LPRALCVHAA KTSKLSGPWS RPAAFMSTLL
INQPQYAWLK ELGLREENEG VYNGSWGGRG EVITTYCPAN NEPIARVRQA SVADYEETVK
KAREAWKIWA DIPAPKRGEI VRQIGDALRE KIQVLGSLVS LEMGKILVEG VGEVQEYVDI
CDYAVGLSRM IGGPILPSER SGHALIEQWN PVGLVGIITA FNFPVVVYGW NNAIAMICGN
VCLWKGAPTT SLISVAVTKI IAKVLEDNKL PGAICSLTCG GADIGTAMAK DERVNLLSFT
GSTQVGKQVG LMVQERFGRS LLELGGNNAI IAFEDADLSL VVPSALFAAV GTAGQRCTTA
RRLVMDRPGN YVEPTIVTGL GHDASIAHTE TFAPILYVFK FKNEEEVFAW NNEVKQGLSS
SIFTKDLGRI FRWLGPKGSD CGIVNVNIPT SGAEIGGAFG GEKHTGGGRE SGSDAWKQYM
RRSTCTINYS KDLPLAQGIK FQ*

speed

1.18 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

Problems