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: ENST00000402050
Querying Taster for transcript #2: ENST00000438376
Querying Taster for transcript #3: ENST00000325979
Querying Taster for transcript #4: ENST00000404984
MT speed 0 s - this script 5.50452 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
IQCE	polymorphism_automatic	1.99840144432528e-15	simple_aae				T580A	single base exchange	rs2293407		show file
IQCE	polymorphism_automatic	1.99840144432528e-15	simple_aae				T596A	single base exchange	rs2293407		show file
IQCE	polymorphism_automatic	1.99840144432528e-15	simple_aae				T531A	single base exchange	rs2293407		show file
IQCE	polymorphism_automatic	1.99840144432528e-15	simple_aae				T545A	single base exchange	rs2293407		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999998 (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)

chr7:2645552A>GN/A show variant in all transcripts IGV

HGNC symbol

IQCE

Ensembl transcript ID

ENST00000438376

Genbank transcript ID

NM_001100390

UniProt peptide

Q6IPM2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1738A>G
cDNA.1868A>G
g.46921A>G

AA changes

T580A Score: 58 explain score(s)

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

580

frameshift

known variant

Reference ID: rs2293407

database	homozygous (G/G)	heterozygous	allele carriers
1000G	434	1205	1639
ExAC	7475	17817	25292

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.29	0
	0.438	0
(flanking)	-0.05	0

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

580

mutated

not conserved

580

Ptroglodytes

not conserved

ENSPTRG00000018866

596

Mmulatta

not conserved

ENSMMUG00000006458

596

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000036555

607

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000089930

585

STQ

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

2040 / 2040

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

680 / 680

position of stopcodon in wt / mu cDNA

2170 / 2170

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

2052

theoretical NMD boundary in CDS

1871

length of CDS

2040

coding sequence (CDS) position

1738

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

1868

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

46921

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

2645552

original gDNA sequence snippet

CGAGCCCCATCGCCCAGGCCACGGGCAGCCCTGTGCAGGAG

altered gDNA sequence snippet

CGAGCCCCATCGCCCAGGCCGCGGGCAGCCCTGTGCAGGAG

original cDNA sequence snippet

CGAGCCCCATCGCCCAGGCCACGGGCAGCCCTGTGCAGGAG

altered cDNA sequence snippet

CGAGCCCCATCGCCCAGGCCGCGGGCAGCCCTGTGCAGGAG

wildtype AA sequence

MFLGTGEPAL DTKAKRKAFH KPPPTSPKSP YLSKPRKVAS WRSLRTAGSM PLGGRASLTP
QKLWLGTAKP GSLTQALNSP LTWEHAWTGV PGGTPDCLTD TFRVKRPHLR RSASNGHVPG
TPVYREKEDM YDEIIELKKS LHVQKSDVDL MRTKLRRLEE ENSRKDRQIE QLLDPSRGTD
FVRTLAEKRP DASWVINGLK QRILKLEQQC KEKDGTISKL QTDMKTTNLE EMRIAMETYY
EEVHRLQTLL ASSETTGKKP LGEKKTGAKR QKKMGSALLS LSRSVQELTE ENQSLKEDLD
RVLSTSPTIS KTQGYVEWSK PRLLRRIVEL EKKLSVMESS KSHAAEPVRS HPPACLASSS
ALHRQPRGDR NKDHERLRGA VRDLKEERTA LQEQLLQRDL EVKQLLQAKA DLEKELECAR
EGEEERRERE EVLREEIQTL TSKLQELQEM KKEEKEDCPE VPHKAQELPA PTPSSRHCEQ
DWPPDSSEEG LPRPRSPCSD GRRDAAARVL QAQWKVYKHK KKKAVLDEAA VVLQAAFRGH
LTRTKLLASK AHGSEPPSVP GLPDQSSPVP RVPSPIAQAT GSPVQEEAIV IIQSALRAHL
ARARHSATGK RTTTAASTRR RSASATHGDA SSPPFLAALP DPSPSGPQAL APLPGDDVNS
DDSDDIVIAP SLPTKNFPV*

mutated AA sequence

MFLGTGEPAL DTKAKRKAFH KPPPTSPKSP YLSKPRKVAS WRSLRTAGSM PLGGRASLTP
QKLWLGTAKP GSLTQALNSP LTWEHAWTGV PGGTPDCLTD TFRVKRPHLR RSASNGHVPG
TPVYREKEDM YDEIIELKKS LHVQKSDVDL MRTKLRRLEE ENSRKDRQIE QLLDPSRGTD
FVRTLAEKRP DASWVINGLK QRILKLEQQC KEKDGTISKL QTDMKTTNLE EMRIAMETYY
EEVHRLQTLL ASSETTGKKP LGEKKTGAKR QKKMGSALLS LSRSVQELTE ENQSLKEDLD
RVLSTSPTIS KTQGYVEWSK PRLLRRIVEL EKKLSVMESS KSHAAEPVRS HPPACLASSS
ALHRQPRGDR NKDHERLRGA VRDLKEERTA LQEQLLQRDL EVKQLLQAKA DLEKELECAR
EGEEERRERE EVLREEIQTL TSKLQELQEM KKEEKEDCPE VPHKAQELPA PTPSSRHCEQ
DWPPDSSEEG LPRPRSPCSD GRRDAAARVL QAQWKVYKHK KKKAVLDEAA VVLQAAFRGH
LTRTKLLASK AHGSEPPSVP GLPDQSSPVP RVPSPIAQAA GSPVQEEAIV IIQSALRAHL
ARARHSATGK RTTTAASTRR RSASATHGDA SSPPFLAALP DPSPSGPQAL APLPGDDVNS
DDSDDIVIAP SLPTKNFPV*

speed

1.26 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: 0.999999999999998 (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)

chr7:2645552A>GN/A show variant in all transcripts IGV

HGNC symbol

IQCE

Ensembl transcript ID

ENST00000402050

Genbank transcript ID

NM_152558

UniProt peptide

Q6IPM2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1786A>G
cDNA.1970A>G
g.46921A>G

AA changes

T596A Score: 58 explain score(s)

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

596

frameshift

known variant

Reference ID: rs2293407

database	homozygous (G/G)	heterozygous	allele carriers
1000G	434	1205	1639
ExAC	7475	17817	25292

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.29	0
	0.438	0
(flanking)	-0.05	0

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

596

mutated

not conserved

596

Ptroglodytes

not conserved

ENSPTRG00000018866

596

Mmulatta

not conserved

ENSMMUG00000006458

596

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000036555

610

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000089930

571

STQ

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

2088 / 2088

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

696 / 696

position of stopcodon in wt / mu cDNA

2272 / 2272

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

185 / 185

chromosome

strand

last intron/exon boundary

2154

theoretical NMD boundary in CDS

1919

length of CDS

2088

coding sequence (CDS) position

1786

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

1970

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

46921

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

2645552

original gDNA sequence snippet

CGAGCCCCATCGCCCAGGCCACGGGCAGCCCTGTGCAGGAG

altered gDNA sequence snippet

CGAGCCCCATCGCCCAGGCCGCGGGCAGCCCTGTGCAGGAG

original cDNA sequence snippet

CGAGCCCCATCGCCCAGGCCACGGGCAGCCCTGTGCAGGAG

altered cDNA sequence snippet

CGAGCCCCATCGCCCAGGCCGCGGGCAGCCCTGTGCAGGAG

wildtype AA sequence

MFLGTGEPAL DTGDDSLSAV TFDSDVETKA KRKAFHKPPP TSPKSPYLSK PRKVASWRSL
RTAGSMPLGG RASLTPQKLW LGTAKPGSLT QALNSPLTWE HAWTGVPGGT PDCLTDTFRV
KRPHLRRSAS NGHVPGTPVY REKEDMYDEI IELKKSLHVQ KSDVDLMRTK LRRLEEENSR
KDRQIEQLLD PSRGTDFVRT LAEKRPDASW VINGLKQRIL KLEQQCKEKD GTISKLQTDM
KTTNLEEMRI AMETYYEEVH RLQTLLASSE TTGKKPLGEK KTGAKRQKKM GSALLSLSRS
VQELTEENQS LKEDLDRVLS TSPTISKTQG YVEWSKPRLL RRIVELEKKL SVMESSKSHA
AEPVRSHPPA CLASSSALHR QPRGDRNKDH ERLRGAVRDL KEERTALQEQ LLQRDLEVKQ
LLQAKADLEK ELECAREGEE ERREREEVLR EEIQTLTSKL QELQEMKKEE KEDCPEVPHK
AQELPAPTPS SRHCEQDWPP DSSEEGLPRP RSPCSDGRRD AAARVLQAQW KVYKHKKKKA
VLDEAAVVLQ AAFRGHLTRT KLLASKAHGS EPPSVPGLPD QSSPVPRVPS PIAQATGSPV
QEEAIVIIQS ALRAHLARAR HSATGKRTTT AASTRRRSAS ATHGDASSPP FLAALPDPSP
SGPQALAPLP GDDVNSDDSD DIVIAPSLPT KNFPV*

mutated AA sequence

MFLGTGEPAL DTGDDSLSAV TFDSDVETKA KRKAFHKPPP TSPKSPYLSK PRKVASWRSL
RTAGSMPLGG RASLTPQKLW LGTAKPGSLT QALNSPLTWE HAWTGVPGGT PDCLTDTFRV
KRPHLRRSAS NGHVPGTPVY REKEDMYDEI IELKKSLHVQ KSDVDLMRTK LRRLEEENSR
KDRQIEQLLD PSRGTDFVRT LAEKRPDASW VINGLKQRIL KLEQQCKEKD GTISKLQTDM
KTTNLEEMRI AMETYYEEVH RLQTLLASSE TTGKKPLGEK KTGAKRQKKM GSALLSLSRS
VQELTEENQS LKEDLDRVLS TSPTISKTQG YVEWSKPRLL RRIVELEKKL SVMESSKSHA
AEPVRSHPPA CLASSSALHR QPRGDRNKDH ERLRGAVRDL KEERTALQEQ LLQRDLEVKQ
LLQAKADLEK ELECAREGEE ERREREEVLR EEIQTLTSKL QELQEMKKEE KEDCPEVPHK
AQELPAPTPS SRHCEQDWPP DSSEEGLPRP RSPCSDGRRD AAARVLQAQW KVYKHKKKKA
VLDEAAVVLQ AAFRGHLTRT KLLASKAHGS EPPSVPGLPD QSSPVPRVPS PIAQAAGSPV
QEEAIVIIQS ALRAHLARAR HSATGKRTTT AASTRRRSAS ATHGDASSPP FLAALPDPSP
SGPQALAPLP GDDVNSDDSD DIVIAPSLPT KNFPV*

speed

0.85 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999998 (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)

chr7:2645552A>GN/A show variant in all transcripts IGV

HGNC symbol

IQCE

Ensembl transcript ID

ENST00000325979

Genbank transcript ID

N/A

UniProt peptide

Q6IPM2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1591A>G
cDNA.1877A>G
g.46921A>G

AA changes

T531A Score: 58 explain score(s)

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

531

frameshift

known variant

Reference ID: rs2293407

database	homozygous (G/G)	heterozygous	allele carriers
1000G	434	1205	1639
ExAC	7475	17817	25292

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.29	0
	0.438	0
(flanking)	-0.05	0

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

531

mutated

not conserved

531

Ptroglodytes

not conserved

ENSPTRG00000018866

596

Mmulatta

not conserved

ENSMMUG00000006458

596

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000036555

610

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000089930

573

STQ

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

1893 / 1893

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

631 / 631

position of stopcodon in wt / mu cDNA

2179 / 2179

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

287 / 287

chromosome

strand

last intron/exon boundary

2061

theoretical NMD boundary in CDS

1724

length of CDS

1893

coding sequence (CDS) position

1591

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

1877

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

46921

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

2645552

original gDNA sequence snippet

CGAGCCCCATCGCCCAGGCCACGGGCAGCCCTGTGCAGGAG

altered gDNA sequence snippet

CGAGCCCCATCGCCCAGGCCGCGGGCAGCCCTGTGCAGGAG

original cDNA sequence snippet

CGAGCCCCATCGCCCAGGCCACGGGCAGCCCTGTGCAGGAG

altered cDNA sequence snippet

CGAGCCCCATCGCCCAGGCCGCGGGCAGCCCTGTGCAGGAG

wildtype AA sequence

MPLGGRASLT PQKLWLGTAK PGSLTQALNS PLTWEHAWTG VPGGTPDCLT DTFRVKRPHL
RRSASNGHVP GTPVYREKED MYDEIIELKK SLHVQKSDVD LMRTKLRRLE EENSRKDRQI
EQLLDPSRGT DFVRTLAEKR PDASWVINGL KQRILKLEQQ CKEKDGTISK LQTDMKTTNL
EEMRIAMETY YEEVHRLQTL LASSETTGKK PLGEKKTGAK RQKKMGSALL SLSRSVQELT
EENQSLKEDL DRVLSTSPTI SKTQGYVEWS KPRLLRRIVE LEKKLSVMES SKSHAAEPVR
SHPPACLASS SALHRQPRGD RNKDHERLRG AVRDLKEERT ALQEQLLQRD LEVKQLLQAK
ADLEKELECA REGEEERRER EEVLREEIQT LTSKLQELQE MKKEEKEDCP EVPHKAQELP
APTPSSRHCE QDWPPDSSEE GLPRPRSPCS DGRRDAAARV LQAQWKVYKH KKKKAVLDEA
AVVLQAAFRG HLTRTKLLAS KAHGSEPPSV PGLPDQSSPV PRVPSPIAQA TGSPVQEEAI
VIIQSALRAH LARARHSATG KRTTTAASTR RRSASATHGD ASSPPFLAAL PDPSPSGPQA
LAPLPGDDVN SDDSDDIVIA PSLPTKNFPV *

mutated AA sequence

MPLGGRASLT PQKLWLGTAK PGSLTQALNS PLTWEHAWTG VPGGTPDCLT DTFRVKRPHL
RRSASNGHVP GTPVYREKED MYDEIIELKK SLHVQKSDVD LMRTKLRRLE EENSRKDRQI
EQLLDPSRGT DFVRTLAEKR PDASWVINGL KQRILKLEQQ CKEKDGTISK LQTDMKTTNL
EEMRIAMETY YEEVHRLQTL LASSETTGKK PLGEKKTGAK RQKKMGSALL SLSRSVQELT
EENQSLKEDL DRVLSTSPTI SKTQGYVEWS KPRLLRRIVE LEKKLSVMES SKSHAAEPVR
SHPPACLASS SALHRQPRGD RNKDHERLRG AVRDLKEERT ALQEQLLQRD LEVKQLLQAK
ADLEKELECA REGEEERRER EEVLREEIQT LTSKLQELQE MKKEEKEDCP EVPHKAQELP
APTPSSRHCE QDWPPDSSEE GLPRPRSPCS DGRRDAAARV LQAQWKVYKH KKKKAVLDEA
AVVLQAAFRG HLTRTKLLAS KAHGSEPPSV PGLPDQSSPV PRVPSPIAQA AGSPVQEEAI
VIIQSALRAH LARARHSATG KRTTTAASTR RRSASATHGD ASSPPFLAAL PDPSPSGPQA
LAPLPGDDVN SDDSDDIVIA PSLPTKNFPV *

speed

0.98 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999998 (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)

chr7:2645552A>GN/A show variant in all transcripts IGV

HGNC symbol

IQCE

Ensembl transcript ID

ENST00000404984

Genbank transcript ID

N/A

UniProt peptide

Q6IPM2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1633A>G
cDNA.1817A>G
g.46921A>G

AA changes

T545A Score: 58 explain score(s)

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

545

frameshift

known variant

Reference ID: rs2293407

database	homozygous (G/G)	heterozygous	allele carriers
1000G	434	1205	1639
ExAC	7475	17817	25292

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.29	0
	0.438	0
(flanking)	-0.05	0

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

545

mutated

not conserved

545

Ptroglodytes

not conserved

ENSPTRG00000018866

596

Mmulatta

not conserved

ENSMMUG00000006458

596

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000036555

610

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000089930

573

STQ

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
542	571	DOMAIN	IQ 1.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1935 / 1935

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

645 / 645

position of stopcodon in wt / mu cDNA

2119 / 2119

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

185 / 185

chromosome

strand

last intron/exon boundary

2001

theoretical NMD boundary in CDS

1766

length of CDS

1935

coding sequence (CDS) position

1633

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

1817

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

46921

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

2645552

original gDNA sequence snippet

CGAGCCCCATCGCCCAGGCCACGGGCAGCCCTGTGCAGGAG

altered gDNA sequence snippet

CGAGCCCCATCGCCCAGGCCGCGGGCAGCCCTGTGCAGGAG

original cDNA sequence snippet

CGAGCCCCATCGCCCAGGCCACGGGCAGCCCTGTGCAGGAG

altered cDNA sequence snippet

CGAGCCCCATCGCCCAGGCCGCGGGCAGCCCTGTGCAGGAG

wildtype AA sequence

MFLGTGEPAL DTSHLISLSR ASLTPQKLWL GTAKPGSLTQ ALNSPLTWEH AWTGVPGGTP
DCLTDTFRVK RPHLRRSASN GHVPGTPVYR EKEDMYDEII ELKKSLHVQK SDVDLMRTKL
RRLEEENSRK DRQIEQLLDP SRGTDFVRTL AEKRPDASWV INGLKQRILK LEQQCKEKDG
TISKLQTDMK TTNLEEMRIA METYYEEVHR LQTLLASSET TGKKPLGEKK TGAKRQKKMG
SALLSLSRSV QELTEENQSL KEDLDRVLST SPTISKTQGY VEWSKPRLLR RIVELEKKLS
VMESSKSHAA EPVRSHPPAC LASSSALHRQ PRGDRNKDHE RLRGAVRDLK EERTALQEQL
LQRDLEVKQL LQAKADLEKE LECAREGEEE RREREEVLRE EIQTLTSKLQ ELQEMKKEEK
EDCPEVPHKA QELPAPTPSS RHCEQDWPPD SSEEGLPRPR SPCSDGRRDA AARVLQAQWK
VYKHKKKKAV LDEAAVVLQA AFRGHLTRTK LLASKAHGSE PPSVPGLPDQ SSPVPRVPSP
IAQATGSPVQ EEAIVIIQSA LRAHLARARH SATGKRTTTA ASTRRRSASA THGDASSPPF
LAALPDPSPS GPQALAPLPG DDVNSDDSDD IVIAPSLPTK NFPV*

mutated AA sequence

MFLGTGEPAL DTSHLISLSR ASLTPQKLWL GTAKPGSLTQ ALNSPLTWEH AWTGVPGGTP
DCLTDTFRVK RPHLRRSASN GHVPGTPVYR EKEDMYDEII ELKKSLHVQK SDVDLMRTKL
RRLEEENSRK DRQIEQLLDP SRGTDFVRTL AEKRPDASWV INGLKQRILK LEQQCKEKDG
TISKLQTDMK TTNLEEMRIA METYYEEVHR LQTLLASSET TGKKPLGEKK TGAKRQKKMG
SALLSLSRSV QELTEENQSL KEDLDRVLST SPTISKTQGY VEWSKPRLLR RIVELEKKLS
VMESSKSHAA EPVRSHPPAC LASSSALHRQ PRGDRNKDHE RLRGAVRDLK EERTALQEQL
LQRDLEVKQL LQAKADLEKE LECAREGEEE RREREEVLRE EIQTLTSKLQ ELQEMKKEEK
EDCPEVPHKA QELPAPTPSS RHCEQDWPPD SSEEGLPRPR SPCSDGRRDA AARVLQAQWK
VYKHKKKKAV LDEAAVVLQA AFRGHLTRTK LLASKAHGSE PPSVPGLPDQ SSPVPRVPSP
IAQAAGSPVQ EEAIVIIQSA LRAHLARARH SATGKRTTTA ASTRRRSASA THGDASSPPF
LAALPDPSPS GPQALAPLPG DDVNSDDSDD IVIAPSLPTK NFPV*

speed

1.26 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