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: ENST00000505113
Querying Taster for transcript #2: ENST00000316418
Querying Taster for transcript #3: ENST00000512529
Querying Taster for transcript #4: ENST00000506456
MT speed 4.01 s - this script 5.093223 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
AHRR	polymorphism_automatic	2.59792187762287e-14	simple_aae				D473H	single base exchange	rs34453673		show file
AHRR	polymorphism_automatic	2.59792187762287e-14	simple_aae				D483H	single base exchange	rs34453673		show file
AHRR	polymorphism_automatic	3.39728245535298e-14	simple_aae				D645H	single base exchange	rs34453673		show file
AHRR	polymorphism_automatic	3.39728245535298e-14	simple_aae				D627H	single base exchange	rs34453673		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999974 (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)

chr5:434722G>CN/A show variant in all transcripts IGV

HGNC symbol

AHRR

Ensembl transcript ID

ENST00000512529

Genbank transcript ID

N/A

UniProt peptide

A9YTQ3

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1417G>C
cDNA.1626G>C
g.130432G>C

AA changes

D473H Score: 81 explain score(s)

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

473

frameshift

known variant

Reference ID: rs34453673

database	homozygous (C/C)	heterozygous	allele carriers
1000G	125	526	651
ExAC	1771	7553	9324

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.395	0
	0.7	0.001
(flanking)	0.024	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

287

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

473

mutated

not conserved

473

Ptroglodytes

no homologue

Mmulatta

not conserved

ENSMMUG00000000752

655

Fcatus

not conserved

ENSFCAG00000015430

594

Mmusculus

not conserved

ENSMUSG00000021575

633

HFF

Ggallus

not conserved

ENSGALG00000013402

660

FYS

Trubripes

no alignment

ENSTRUG00000003745

n/a

Drerio

no alignment

ENSDARG00000052618

n/a

Dmelanogaster

no alignment

FBgn0003513

n/a

Celegans

no alignment

C41G7.5

n/a

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1644 / 1644

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

548 / 548

position of stopcodon in wt / mu cDNA

1853 / 1853

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

210 / 210

chromosome

strand

last intron/exon boundary

872

theoretical NMD boundary in CDS

612

length of CDS

1644

coding sequence (CDS) position

1417

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

1626

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

130432

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

434722

original gDNA sequence snippet

GTGCCTGCCTGGAGCCCACAGACGGCCTTCCCCAGTCGGAG

altered gDNA sequence snippet

GTGCCTGCCTGGAGCCCACACACGGCCTTCCCCAGTCGGAG

original cDNA sequence snippet

GTGCCTGCCTGGAGCCCACAGACGGCCTTCCCCAGTCGGAG

altered cDNA sequence snippet

GTGCCTGCCTGGAGCCCACACACGGCCTTCCCCAGTCGGAG

wildtype AA sequence

MHQNIYDYIH VDDRQDFCRQ LHWAMDPPQV VFGQPPPLET GDDAILGRLL RAQEWGTGTP
TEYSAFLTRC FICRVRCLLD STSGFLTMQF QGKLKFLFGQ KKKAPSGAML PPRLSLFCIA
APVLLPSAAE MKMRSALLRA KPRADTAATA DAKVKATTSL CESELHGKPN YSAGRSSRES
GVLVLREQTD AGRWAQVPAR APCLCLRGGP DLVLDPKGGS GDREEEQHRM LSRASGVTGR
RETPGPTKPL PWTAGKHSED GARPRLQPSK NDPPSLRPMP RGSCLPCPCV QGTFRNSPIS
HPPSPSPSAY SSRTSRPMRD VGEDQVHPPL CHFPQRSLQH QLPQPGAQRF ATRGYPMEDM
KLQGVPMPPG DLCGPTLLLD VSIKMEKDSG CEGAADGCVP SQVWLGASDR SHPATFPTRM
HLKTEPDSRQ QVYISHLGHG VRGAQPHGRA TAGRSRELTP FHPAHCACLE PTDGLPQSEP
PHQLCARGRG EQSCTCRAAE AAPVVKREPL DSPQWATHSQ GMVPGMLPKS ALATLVPPQA
SGCTFLP*

mutated AA sequence

MHQNIYDYIH VDDRQDFCRQ LHWAMDPPQV VFGQPPPLET GDDAILGRLL RAQEWGTGTP
TEYSAFLTRC FICRVRCLLD STSGFLTMQF QGKLKFLFGQ KKKAPSGAML PPRLSLFCIA
APVLLPSAAE MKMRSALLRA KPRADTAATA DAKVKATTSL CESELHGKPN YSAGRSSRES
GVLVLREQTD AGRWAQVPAR APCLCLRGGP DLVLDPKGGS GDREEEQHRM LSRASGVTGR
RETPGPTKPL PWTAGKHSED GARPRLQPSK NDPPSLRPMP RGSCLPCPCV QGTFRNSPIS
HPPSPSPSAY SSRTSRPMRD VGEDQVHPPL CHFPQRSLQH QLPQPGAQRF ATRGYPMEDM
KLQGVPMPPG DLCGPTLLLD VSIKMEKDSG CEGAADGCVP SQVWLGASDR SHPATFPTRM
HLKTEPDSRQ QVYISHLGHG VRGAQPHGRA TAGRSRELTP FHPAHCACLE PTHGLPQSEP
PHQLCARGRG EQSCTCRAAE AAPVVKREPL DSPQWATHSQ GMVPGMLPKS ALATLVPPQA
SGCTFLP*

speed

1.05 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: 0.999999999999974 (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)

chr5:434722G>CN/A show variant in all transcripts IGV

HGNC symbol

AHRR

Ensembl transcript ID

ENST00000506456

Genbank transcript ID

N/A

UniProt peptide

A9YTQ3

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1447G>C
cDNA.1847G>C
g.130432G>C

AA changes

D483H Score: 81 explain score(s)

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

483

frameshift

known variant

Reference ID: rs34453673

database	homozygous (C/C)	heterozygous	allele carriers
1000G	125	526	651
ExAC	1771	7553	9324

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.395	0
	0.7	0.001
(flanking)	0.024	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

504

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

483

mutated

not conserved

483

Ptroglodytes

no homologue

Mmulatta

not conserved

ENSMMUG00000000752

655

Fcatus

not conserved

ENSFCAG00000015430

594

Mmusculus

not conserved

ENSMUSG00000021575

633

HFF

Ggallus

not conserved

ENSGALG00000013402

660

FYS

Trubripes

no alignment

ENSTRUG00000003745

n/a

Drerio

no alignment

ENSDARG00000052618

n/a

Dmelanogaster

no alignment

FBgn0003513

n/a

Celegans

no alignment

C41G7.5

n/a

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1674 / 1674

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

558 / 558

position of stopcodon in wt / mu cDNA

2074 / 2074

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

401 / 401

chromosome

strand

last intron/exon boundary

1093

theoretical NMD boundary in CDS

642

length of CDS

1674

coding sequence (CDS) position

1447

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

1847

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

130432

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

434722

original gDNA sequence snippet

GTGCCTGCCTGGAGCCCACAGACGGCCTTCCCCAGTCGGAG

altered gDNA sequence snippet

GTGCCTGCCTGGAGCCCACACACGGCCTTCCCCAGTCGGAG

original cDNA sequence snippet

GTGCCTGCCTGGAGCCCACAGACGGCCTTCCCCAGTCGGAG

altered cDNA sequence snippet

GTGCCTGCCTGGAGCCCACACACGGCCTTCCCCAGTCGGAG

wildtype AA sequence

MRGRGMPTDV MHQNIYDYIH VDDRQDFCRQ LHWAMDPPQV VFGQPPPLET GDDAILGRLL
RAQEWGTGTP TEYSAFLTRC FICRVRCLLD STSGFLTMQF QGKLKFLFGQ KKKAPSGAML
PPRLSLFCIA APVLLPSAAE MKMRSALLRA KPRADTAATA DAKVKATTSL CESELHGKPN
YSAGRSSRES GVLVLREQTD AGRWAQVPAR APCLCLRGGP DLVLDPKGGS GDREEEQHRM
LSRASGVTGR RETPGPTKPL PWTAGKHSED GARPRLQPSK NDPPSLRPMP RGSCLPCPCV
QGTFRNSPIS HPPSPSPSAY SSRTSRPMRD VGEDQVHPPL CHFPQRSLQH QLPQPGAQRF
ATRGYPMEDM KLQGVPMPPG DLCGPTLLLD VSIKMEKDSG CEGAADGCVP SQVWLGASDR
SHPATFPTRM HLKTEPDSRQ QVYISHLGHG VRGAQPHGRA TAGRSRELTP FHPAHCACLE
PTDGLPQSEP PHQLCARGRG EQSCTCRAAE AAPVVKREPL DSPQWATHSQ GMVPGMLPKS
ALATLVPPQA SGCTFLP*

mutated AA sequence

MRGRGMPTDV MHQNIYDYIH VDDRQDFCRQ LHWAMDPPQV VFGQPPPLET GDDAILGRLL
RAQEWGTGTP TEYSAFLTRC FICRVRCLLD STSGFLTMQF QGKLKFLFGQ KKKAPSGAML
PPRLSLFCIA APVLLPSAAE MKMRSALLRA KPRADTAATA DAKVKATTSL CESELHGKPN
YSAGRSSRES GVLVLREQTD AGRWAQVPAR APCLCLRGGP DLVLDPKGGS GDREEEQHRM
LSRASGVTGR RETPGPTKPL PWTAGKHSED GARPRLQPSK NDPPSLRPMP RGSCLPCPCV
QGTFRNSPIS HPPSPSPSAY SSRTSRPMRD VGEDQVHPPL CHFPQRSLQH QLPQPGAQRF
ATRGYPMEDM KLQGVPMPPG DLCGPTLLLD VSIKMEKDSG CEGAADGCVP SQVWLGASDR
SHPATFPTRM HLKTEPDSRQ QVYISHLGHG VRGAQPHGRA TAGRSRELTP FHPAHCACLE
PTHGLPQSEP PHQLCARGRG EQSCTCRAAE AAPVVKREPL DSPQWATHSQ GMVPGMLPKS
ALATLVPPQA SGCTFLP*

speed

0.96 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999966 (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)

chr5:434722G>CN/A show variant in all transcripts IGV

HGNC symbol

AHRR

Ensembl transcript ID

ENST00000316418

Genbank transcript ID

NM_020731

UniProt peptide

A9YTQ3

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1933G>C
cDNA.1977G>C
g.130432G>C

AA changes

D645H Score: 81 explain score(s)

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

645

frameshift

known variant

Reference ID: rs34453673

database	homozygous (C/C)	heterozygous	allele carriers
1000G	125	526	651
ExAC	1771	7553	9324

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.395	0
	0.7	0.001
(flanking)	0.024	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

755

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

645

mutated

not conserved

645

Ptroglodytes

no homologue

Mmulatta

not conserved

ENSMMUG00000000752

655

Fcatus

not conserved

ENSFCAG00000015430

594

Mmusculus

not conserved

ENSMUSG00000021575

633

HFF

Ggallus

not conserved

ENSGALG00000013402

660

FYS

Trubripes

no alignment

ENSTRUG00000003745

n/a

Drerio

no alignment

ENSDARG00000052618

n/a

Dmelanogaster

no alignment

FBgn0003513

n/a

Celegans

no alignment

C41G7.5

n/a

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
551	701	REGION	Needed for transcriptional repression (By similarity).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2160 / 2160

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

720 / 720

position of stopcodon in wt / mu cDNA

2204 / 2204

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

45 / 45

chromosome

strand

last intron/exon boundary

1223

theoretical NMD boundary in CDS

1128

length of CDS

2160

coding sequence (CDS) position

1933

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

1977

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

130432

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

434722

original gDNA sequence snippet

GTGCCTGCCTGGAGCCCACAGACGGCCTTCCCCAGTCGGAG

altered gDNA sequence snippet

GTGCCTGCCTGGAGCCCACACACGGCCTTCCCCAGTCGGAG

original cDNA sequence snippet

GTGCCTGCCTGGAGCCCACAGACGGCCTTCCCCAGTCGGAG

altered cDNA sequence snippet

GTGCCTGCCTGGAGCCCACACACGGCCTTCCCCAGTCGGAG

wildtype AA sequence

MPRTMIPPGE CTYAGRKRRR PLQKQRPAVG AEKSNPSKRH RDRLNAELDH LASLLPFPPD
IISKLDKLSV LRLSVSYLRV KSFFQVVQEQ SSRQPAAGAP SPGDSCPLAG SAVLEGRLLL
ESLNGFALVV SAEGTIFYAS ATIVDYLGFH QTDVMHQNIY DYIHVDDRQD FCRQLHWAMD
PPQVVFGQPP PLETGDDAIL GRLLRAQEWG TGTPTEYSAF LTRCFICRVR CLLDSTSGFL
ARGSQAWQLR LCCPEPLMTM QFQGKLKFLF GQKKKAPSGA MLPPRLSLFC IAAPVLLPSA
AEMKMRSALL RAKPRADTAA TADAKVKATT SLCESELHGK PNYSAGRSSR ESGVLVLREQ
TDAGRWAQVP ARAPCLCLRG GPDLVLDPKG GSGDREEEQH RMLSRASGVT GRRETPGPTK
PLPWTAGKHS EDGARPRLQP SKNDPPSLRP MPRGSCLPCP CVQGTFRNSP ISHPPSPSPS
AYSSRTSRPM RDVGEDQVHP PLCHFPQRSL QHQLPQPGAQ RFATRGYPME DMKLQGVPMP
PGDLCGPTLL LDVSIKMEKD SGCEGAADGC VPSQVWLGAS DRSHPATFPT RMHLKTEPDS
RQQVYISHLG HGVRGAQPHG RATAGRSREL TPFHPAHCAC LEPTDGLPQS EPPHQLCARG
RGEQSCTCRA AEAAPVVKRE PLDSPQWATH SQGMVPGMLP KSALATLVPP QASGCTFLP*

mutated AA sequence

MPRTMIPPGE CTYAGRKRRR PLQKQRPAVG AEKSNPSKRH RDRLNAELDH LASLLPFPPD
IISKLDKLSV LRLSVSYLRV KSFFQVVQEQ SSRQPAAGAP SPGDSCPLAG SAVLEGRLLL
ESLNGFALVV SAEGTIFYAS ATIVDYLGFH QTDVMHQNIY DYIHVDDRQD FCRQLHWAMD
PPQVVFGQPP PLETGDDAIL GRLLRAQEWG TGTPTEYSAF LTRCFICRVR CLLDSTSGFL
ARGSQAWQLR LCCPEPLMTM QFQGKLKFLF GQKKKAPSGA MLPPRLSLFC IAAPVLLPSA
AEMKMRSALL RAKPRADTAA TADAKVKATT SLCESELHGK PNYSAGRSSR ESGVLVLREQ
TDAGRWAQVP ARAPCLCLRG GPDLVLDPKG GSGDREEEQH RMLSRASGVT GRRETPGPTK
PLPWTAGKHS EDGARPRLQP SKNDPPSLRP MPRGSCLPCP CVQGTFRNSP ISHPPSPSPS
AYSSRTSRPM RDVGEDQVHP PLCHFPQRSL QHQLPQPGAQ RFATRGYPME DMKLQGVPMP
PGDLCGPTLL LDVSIKMEKD SGCEGAADGC VPSQVWLGAS DRSHPATFPT RMHLKTEPDS
RQQVYISHLG HGVRGAQPHG RATAGRSREL TPFHPAHCAC LEPTHGLPQS EPPHQLCARG
RGEQSCTCRA AEAAPVVKRE PLDSPQWATH SQGMVPGMLP KSALATLVPP QASGCTFLP*

speed

0.97 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999966 (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)

chr5:434722G>CN/A show variant in all transcripts IGV

HGNC symbol

AHRR

Ensembl transcript ID

ENST00000505113

Genbank transcript ID

NM_001242412

UniProt peptide

A9YTQ3

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1879G>C
cDNA.1923G>C
g.130432G>C

AA changes

D627H Score: 81 explain score(s)

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

627

frameshift

known variant

Reference ID: rs34453673

database	homozygous (C/C)	heterozygous	allele carriers
1000G	125	526	651
ExAC	1771	7553	9324

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.395	0
	0.7	0.001
(flanking)	0.024	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

251

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

627

mutated

not conserved

627

Ptroglodytes

no homologue

Mmulatta

not conserved

ENSMMUG00000000752

655

Fcatus

not conserved

ENSFCAG00000015430

594

Mmusculus

not conserved

ENSMUSG00000021575

633

HFF

Ggallus

not conserved

ENSGALG00000013402

664

FYS

Trubripes

no alignment

ENSTRUG00000003745

n/a

Drerio

no alignment

ENSDARG00000052618

n/a

Dmelanogaster

no alignment

FBgn0003513

n/a

Celegans

no alignment

C41G7.5

n/a

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
551	701	REGION	Needed for transcriptional repression (By similarity).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2106 / 2106

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

702 / 702

position of stopcodon in wt / mu cDNA

2150 / 2150

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

45 / 45

chromosome

strand

last intron/exon boundary

1169

theoretical NMD boundary in CDS

1074

length of CDS

2106

coding sequence (CDS) position

1879

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

1923

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

130432

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

434722

original gDNA sequence snippet

GTGCCTGCCTGGAGCCCACAGACGGCCTTCCCCAGTCGGAG

altered gDNA sequence snippet

GTGCCTGCCTGGAGCCCACACACGGCCTTCCCCAGTCGGAG

original cDNA sequence snippet

GTGCCTGCCTGGAGCCCACAGACGGCCTTCCCCAGTCGGAG

altered cDNA sequence snippet

GTGCCTGCCTGGAGCCCACACACGGCCTTCCCCAGTCGGAG

wildtype AA sequence

MPRTMIPPGE CTYAGRKRRR PLQKQRPAVG AEKSNPSKRH RDRLNAELDH LASLLPFPPD
IISKLDKLSV LRLSVSYLRV KSFFQVVQEQ SSRQPAAGAP SPGDSCPLAG SAVLEGRLLL
ESLNGFALVV SAEGTIFYAS ATIVDYLGFH QTDVMHQNIY DYIHVDDRQD FCRQLHWAMD
PPQVVFGQPP PLETGDDAIL GRLLRAQEWG TGTPTEYSAF LTRCFICRVR CLLDSTSGFL
TMQFQGKLKF LFGQKKKAPS GAMLPPRLSL FCIAAPVLLP SAAEMKMRSA LLRAKPRADT
AATADAKVKA TTSLCESELH GKPNYSAGRS SRESGVLVLR EQTDAGRWAQ VPARAPCLCL
RGGPDLVLDP KGGSGDREEE QHRMLSRASG VTGRRETPGP TKPLPWTAGK HSEDGARPRL
QPSKNDPPSL RPMPRGSCLP CPCVQGTFRN SPISHPPSPS PSAYSSRTSR PMRDVGEDQV
HPPLCHFPQR SLQHQLPQPG AQRFATRGYP MEDMKLQGVP MPPGDLCGPT LLLDVSIKME
KDSGCEGAAD GCVPSQVWLG ASDRSHPATF PTRMHLKTEP DSRQQVYISH LGHGVRGAQP
HGRATAGRSR ELTPFHPAHC ACLEPTDGLP QSEPPHQLCA RGRGEQSCTC RAAEAAPVVK
REPLDSPQWA THSQGMVPGM LPKSALATLV PPQASGCTFL P*

mutated AA sequence

MPRTMIPPGE CTYAGRKRRR PLQKQRPAVG AEKSNPSKRH RDRLNAELDH LASLLPFPPD
IISKLDKLSV LRLSVSYLRV KSFFQVVQEQ SSRQPAAGAP SPGDSCPLAG SAVLEGRLLL
ESLNGFALVV SAEGTIFYAS ATIVDYLGFH QTDVMHQNIY DYIHVDDRQD FCRQLHWAMD
PPQVVFGQPP PLETGDDAIL GRLLRAQEWG TGTPTEYSAF LTRCFICRVR CLLDSTSGFL
TMQFQGKLKF LFGQKKKAPS GAMLPPRLSL FCIAAPVLLP SAAEMKMRSA LLRAKPRADT
AATADAKVKA TTSLCESELH GKPNYSAGRS SRESGVLVLR EQTDAGRWAQ VPARAPCLCL
RGGPDLVLDP KGGSGDREEE QHRMLSRASG VTGRRETPGP TKPLPWTAGK HSEDGARPRL
QPSKNDPPSL RPMPRGSCLP CPCVQGTFRN SPISHPPSPS PSAYSSRTSR PMRDVGEDQV
HPPLCHFPQR SLQHQLPQPG AQRFATRGYP MEDMKLQGVP MPPGDLCGPT LLLDVSIKME
KDSGCEGAAD GCVPSQVWLG ASDRSHPATF PTRMHLKTEP DSRQQVYISH LGHGVRGAQP
HGRATAGRSR ELTPFHPAHC ACLEPTHGLP QSEPPHQLCA RGRGEQSCTC RAAEAAPVVK
REPLDSPQWA THSQGMVPGM LPKSALATLV PPQASGCTFL P*

speed

1.03 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