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 9 transcript(s)...
Querying Taster for transcript #1: ENST00000357249
Querying Taster for transcript #2: ENST00000359125
Querying Taster for transcript #3: ENST00000370226
Querying Taster for transcript #4: ENST00000360480
Querying Taster for transcript #5: ENST00000344462
Querying Taster for transcript #6: ENST00000370224
Querying Taster for transcript #7: ENST00000354587
Querying Taster for transcript #8: ENST00000359689
Querying Taster for transcript #9: ENST00000430658
MT speed 0 s - this script 7.082426 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
KCNQ2	polymorphism_automatic	1.56916307947341e-07	simple_aae		affected		N762T	single base exchange	rs1801475		show file
KCNQ2	polymorphism_automatic	1.56916307947341e-07	simple_aae		affected		N780T	single base exchange	rs1801475		show file
KCNQ2	polymorphism_automatic	1.56916307947341e-07	simple_aae		affected		N750T	single base exchange	rs1801475		show file
KCNQ2	polymorphism_automatic	1.56916307947341e-07	simple_aae		affected		N752T	single base exchange	rs1801475		show file
KCNQ2	polymorphism_automatic	1.56916307947341e-07	simple_aae		affected		N776T	single base exchange	rs1801475		show file
KCNQ2	polymorphism_automatic	1.56916307947341e-07	simple_aae		affected		N788T	single base exchange	rs1801475		show file
KCNQ2	polymorphism_automatic	1.56916307947341e-07	simple_aae		affected		N788T	single base exchange	rs1801475		show file
KCNQ2	polymorphism_automatic	1.56916307947341e-07	simple_aae		affected		N780T	single base exchange	rs1801475		show file
KCNQ2	polymorphism_automatic	1.56916307947341e-07	simple_aae		affected		N749T	single base exchange	rs1801475		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999843083692 (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
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr20:62038277T>GN/A show variant in all transcripts IGV

HGNC symbol

KCNQ2

Ensembl transcript ID

ENST00000357249

Genbank transcript ID

NM_172106

UniProt peptide

O43526

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2285A>C
cDNA.2460A>C
g.65717A>C

AA changes

N762T Score: 65 explain score(s)

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

762

frameshift

known variant

Reference ID: rs1801475

database	homozygous (G/G)	heterozygous	allele carriers
1000G	911	1135	2046
ExAC	19837	-6907	12930

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.584	0.891
	0.774	0.871
(flanking)	1.446	0.695

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	65711	wt: 0.23 / mu: 0.32	wt: CCCGGGCTGCAGGCCCCCCGAGGGGAACCTGCGGGACAGCG mu: CCCGGGCTGCAGGCCCCCCGAGGGGACCCTGCGGGACAGCG	ccga\|GGGG

distance from splice site

452

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

762

mutated

not conserved

762

Ptroglodytes

not conserved

ENSPTRG00000013736

713

Mmulatta

not conserved

ENSMMUG00000015918

767

Fcatus

not conserved

ENSFCAG00000008923

684

Mmusculus

not conserved

ENSMUSG00000016346

778

Ggallus

not conserved

ENSGALG00000005822

762

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no alignment

FBgn0033494

n/a

Celegans

no alignment

C25B8.1

n/a

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
313	872	TOPO_DOM	Cytoplasmic (Potential).	lost
854	854	CONFLICT	R -> C (in Ref. 4; AAD16988).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2565 / 2565

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

855 / 855

position of stopcodon in wt / mu cDNA

2740 / 2740

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

176 / 176

chromosome

strand

-1

last intron/exon boundary

2009

theoretical NMD boundary in CDS

1783

length of CDS

2565

coding sequence (CDS) position

2285

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

2460

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

65717

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

62038277

original gDNA sequence snippet

CTGCAGGCCCCCCGAGGGGAACCTGCGGGACAGCGACACGT

altered gDNA sequence snippet

CTGCAGGCCCCCCGAGGGGACCCTGCGGGACAGCGACACGT

original cDNA sequence snippet

CTGCAGGCCCCCCGAGGGGAACCTGCGGGACAGCGACACGT

altered cDNA sequence snippet

CTGCAGGCCCCCCGAGGGGACCCTGCGGGACAGCGACACGT

wildtype AA sequence

MVQKSRNGGV YPGPSGEKKL KVGFVGLDPG APDSTRDGAL LIAGSEAPKR GSILSKPRAG
GAGAGKPPKR NAFYRKLQNF LYNVLERPRG WAFIYHAYVF LLVFSCLVLS VFSTIKEYEK
SSEGALYILE IVTIVVFGVE YFVRIWAAGC CCRYRGWRGR LKFARKPFCV IDIMVLIASI
AVLAAGSQGN VFATSALRSL RFLQILRMIR MDRRGGTWKL LGSVVYAHSK ELVTAWYIGF
LCLILASFLV YLAEKGENDH FDTYADALWW GLITLTTIGY GDKYPQTWNG RLLAATFTLI
GVSFFALPAG ILGSGFALKV QEQHRQKHFE KRRNPAAGLI QSAWRFYATN LSRTDLHSTW
QYYERTVTVP MYSSQTQTYG ASRLIPPLNQ LELLRNLKSK SGLAFRKDPP PEPSPSQKVS
LKDRVFSSPR GVAAKGKGSP QAQTVRRSPS ADQSLEDSPS KVPKSWSFGD RSRARQAFRI
KGAASRQNSE EASLPGEDIV DDKSCPCEFV TEDLTPGLKV SIRAVCVMRF LVSKRKFKES
LRPYDVMDVI EQYSAGHLDM LSRIKSLQSR VDQIVGRGPA ITDKDRTKGP AEAELPEDPS
MMGRLGKVEK QVLSMEKKLD FLVNIYMQRM GIPPTETEAY FGAKEPEPAP PYHSPEDSRE
HVDRHGCIVK IVRSSSSTGQ KNFSAPPAAP PVQCPPSTSW QPQSHPRQGH GTSPVGDHGS
LVRIPPPPAH ERSLSAYGGG NRASMEFLRQ EDTPGCRPPE GNLRDSDTSI SIPSVDHEEL
ERSFSGFSIS QSKENLDALN SCYAAVAPCA KVRPYIAEGE SDTDSDLCTP CGPPPRSATG
EGPFGDVGWA GPRK*

mutated AA sequence

MVQKSRNGGV YPGPSGEKKL KVGFVGLDPG APDSTRDGAL LIAGSEAPKR GSILSKPRAG
GAGAGKPPKR NAFYRKLQNF LYNVLERPRG WAFIYHAYVF LLVFSCLVLS VFSTIKEYEK
SSEGALYILE IVTIVVFGVE YFVRIWAAGC CCRYRGWRGR LKFARKPFCV IDIMVLIASI
AVLAAGSQGN VFATSALRSL RFLQILRMIR MDRRGGTWKL LGSVVYAHSK ELVTAWYIGF
LCLILASFLV YLAEKGENDH FDTYADALWW GLITLTTIGY GDKYPQTWNG RLLAATFTLI
GVSFFALPAG ILGSGFALKV QEQHRQKHFE KRRNPAAGLI QSAWRFYATN LSRTDLHSTW
QYYERTVTVP MYSSQTQTYG ASRLIPPLNQ LELLRNLKSK SGLAFRKDPP PEPSPSQKVS
LKDRVFSSPR GVAAKGKGSP QAQTVRRSPS ADQSLEDSPS KVPKSWSFGD RSRARQAFRI
KGAASRQNSE EASLPGEDIV DDKSCPCEFV TEDLTPGLKV SIRAVCVMRF LVSKRKFKES
LRPYDVMDVI EQYSAGHLDM LSRIKSLQSR VDQIVGRGPA ITDKDRTKGP AEAELPEDPS
MMGRLGKVEK QVLSMEKKLD FLVNIYMQRM GIPPTETEAY FGAKEPEPAP PYHSPEDSRE
HVDRHGCIVK IVRSSSSTGQ KNFSAPPAAP PVQCPPSTSW QPQSHPRQGH GTSPVGDHGS
LVRIPPPPAH ERSLSAYGGG NRASMEFLRQ EDTPGCRPPE GTLRDSDTSI SIPSVDHEEL
ERSFSGFSIS QSKENLDALN SCYAAVAPCA KVRPYIAEGE SDTDSDLCTP CGPPPRSATG
EGPFGDVGWA GPRK*

speed

1.01 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: 0.999999843083692 (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
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr20:62038277T>GN/A show variant in all transcripts IGV

HGNC symbol

KCNQ2

Ensembl transcript ID

ENST00000359125

Genbank transcript ID

NM_172107

UniProt peptide

O43526

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2339A>C
cDNA.2514A>C
g.65717A>C

AA changes

N780T Score: 65 explain score(s)

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

780

frameshift

known variant

Reference ID: rs1801475

database	homozygous (G/G)	heterozygous	allele carriers
1000G	911	1135	2046
ExAC	19837	-6907	12930

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.584	0.891
	0.774	0.871
(flanking)	1.446	0.695

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	65711	wt: 0.23 / mu: 0.32	wt: CCCGGGCTGCAGGCCCCCCGAGGGGAACCTGCGGGACAGCG mu: CCCGGGCTGCAGGCCCCCCGAGGGGACCCTGCGGGACAGCG	ccga\|GGGG

distance from splice site

452

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

780

mutated

not conserved

780

Ptroglodytes

not conserved

ENSPTRG00000013736

713

Mmulatta

not conserved

ENSMMUG00000015918

767

Fcatus

not conserved

ENSFCAG00000008923

684

Mmusculus

not conserved

ENSMUSG00000016346

778

Ggallus

not conserved

ENSGALG00000005822

761

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no alignment

FBgn0033494

n/a

Celegans

no alignment

C25B8.1

n/a

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
313	872	TOPO_DOM	Cytoplasmic (Potential).	lost
854	854	CONFLICT	R -> C (in Ref. 4; AAD16988).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2619 / 2619

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

873 / 873

position of stopcodon in wt / mu cDNA

2794 / 2794

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

176 / 176

chromosome

strand

-1

last intron/exon boundary

2063

theoretical NMD boundary in CDS

1837

length of CDS

2619

coding sequence (CDS) position

2339

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

2514

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

65717

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

62038277

original gDNA sequence snippet

CTGCAGGCCCCCCGAGGGGAACCTGCGGGACAGCGACACGT

altered gDNA sequence snippet

CTGCAGGCCCCCCGAGGGGACCCTGCGGGACAGCGACACGT

original cDNA sequence snippet

CTGCAGGCCCCCCGAGGGGAACCTGCGGGACAGCGACACGT

altered cDNA sequence snippet

CTGCAGGCCCCCCGAGGGGACCCTGCGGGACAGCGACACGT

wildtype AA sequence

MVQKSRNGGV YPGPSGEKKL KVGFVGLDPG APDSTRDGAL LIAGSEAPKR GSILSKPRAG
GAGAGKPPKR NAFYRKLQNF LYNVLERPRG WAFIYHAYVF LLVFSCLVLS VFSTIKEYEK
SSEGALYILE IVTIVVFGVE YFVRIWAAGC CCRYRGWRGR LKFARKPFCV IDIMVLIASI
AVLAAGSQGN VFATSALRSL RFLQILRMIR MDRRGGTWKL LGSVVYAHSK ELVTAWYIGF
LCLILASFLV YLAEKGENDH FDTYADALWW GLITLTTIGY GDKYPQTWNG RLLAATFTLI
GVSFFALPAG ILGSGFALKV QEQHRQKHFE KRRNPAAGLI QSAWRFYATN LSRTDLHSTW
QYYERTVTVP MYSSQTQTYG ASRLIPPLNQ LELLRNLKSK SGLAFRKDPP PEPSPSKGSP
CRGPLCGCCP GRSSQKVSLK DRVFSSPRGV AAKGKGSPQA QTVRRSPSAD QSLEDSPSKV
PKSWSFGDRS RARQAFRIKG AASRQNSEEA SLPGEDIVDD KSCPCEFVTE DLTPGLKVSI
RAVCVMRFLV SKRKFKESLR PYDVMDVIEQ YSAGHLDMLS RIKSLQSRVD QIVGRGPAIT
DKDRTKGPAE AELPEDPSMM GRLGKVEKQV LSMEKKLDFL VNIYMQRMGI PPTETEAYFG
AKEPEPAPPY HSPEDSREHV DRHGCIVKIV RSSSSTGQKN FSAPPAAPPV QCPPSTSWQP
QSHPRQGHGT SPVGDHGSLV RIPPPPAHER SLSAYGGGNR ASMEFLRQED TPGCRPPEGN
LRDSDTSISI PSVDHEELER SFSGFSISQS KENLDALNSC YAAVAPCAKV RPYIAEGESD
TDSDLCTPCG PPPRSATGEG PFGDVGWAGP RK*

mutated AA sequence

MVQKSRNGGV YPGPSGEKKL KVGFVGLDPG APDSTRDGAL LIAGSEAPKR GSILSKPRAG
GAGAGKPPKR NAFYRKLQNF LYNVLERPRG WAFIYHAYVF LLVFSCLVLS VFSTIKEYEK
SSEGALYILE IVTIVVFGVE YFVRIWAAGC CCRYRGWRGR LKFARKPFCV IDIMVLIASI
AVLAAGSQGN VFATSALRSL RFLQILRMIR MDRRGGTWKL LGSVVYAHSK ELVTAWYIGF
LCLILASFLV YLAEKGENDH FDTYADALWW GLITLTTIGY GDKYPQTWNG RLLAATFTLI
GVSFFALPAG ILGSGFALKV QEQHRQKHFE KRRNPAAGLI QSAWRFYATN LSRTDLHSTW
QYYERTVTVP MYSSQTQTYG ASRLIPPLNQ LELLRNLKSK SGLAFRKDPP PEPSPSKGSP
CRGPLCGCCP GRSSQKVSLK DRVFSSPRGV AAKGKGSPQA QTVRRSPSAD QSLEDSPSKV
PKSWSFGDRS RARQAFRIKG AASRQNSEEA SLPGEDIVDD KSCPCEFVTE DLTPGLKVSI
RAVCVMRFLV SKRKFKESLR PYDVMDVIEQ YSAGHLDMLS RIKSLQSRVD QIVGRGPAIT
DKDRTKGPAE AELPEDPSMM GRLGKVEKQV LSMEKKLDFL VNIYMQRMGI PPTETEAYFG
AKEPEPAPPY HSPEDSREHV DRHGCIVKIV RSSSSTGQKN FSAPPAAPPV QCPPSTSWQP
QSHPRQGHGT SPVGDHGSLV RIPPPPAHER SLSAYGGGNR ASMEFLRQED TPGCRPPEGT
LRDSDTSISI PSVDHEELER SFSGFSISQS KENLDALNSC YAAVAPCAKV RPYIAEGESD
TDSDLCTPCG PPPRSATGEG PFGDVGWAGP RK*

speed

1.06 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999843083692 (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
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr20:62038277T>GN/A show variant in all transcripts IGV

HGNC symbol

KCNQ2

Ensembl transcript ID

ENST00000370226

Genbank transcript ID

N/A

UniProt peptide

O43526

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2249A>C
cDNA.2424A>C
g.65717A>C

AA changes

N750T Score: 65 explain score(s)

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

750

frameshift

known variant

Reference ID: rs1801475

database	homozygous (G/G)	heterozygous	allele carriers
1000G	911	1135	2046
ExAC	19837	-6907	12930

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.584	0.891
	0.774	0.871
(flanking)	1.446	0.695

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	65711	wt: 0.23 / mu: 0.32	wt: CCCGGGCTGCAGGCCCCCCGAGGGGAACCTGCGGGACAGCG mu: CCCGGGCTGCAGGCCCCCCGAGGGGACCCTGCGGGACAGCG	ccga\|GGGG

distance from splice site

452

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

750

mutated

not conserved

750

Ptroglodytes

not conserved

ENSPTRG00000013736

713

Mmulatta

not conserved

ENSMMUG00000015918

767

Fcatus

not conserved

ENSFCAG00000008923

684

Mmusculus

not conserved

ENSMUSG00000016346

778

Ggallus

not conserved

ENSGALG00000005822

762

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no alignment

FBgn0033494

n/a

Celegans

no alignment

C25B8.1

n/a

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
313	872	TOPO_DOM	Cytoplasmic (Potential).	lost
854	854	CONFLICT	R -> C (in Ref. 4; AAD16988).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2529 / 2529

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

843 / 843

position of stopcodon in wt / mu cDNA

2704 / 2704

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

176 / 176

chromosome

strand

-1

last intron/exon boundary

1973

theoretical NMD boundary in CDS

1747

length of CDS

2529

coding sequence (CDS) position

2249

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

2424

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

65717

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

62038277

original gDNA sequence snippet

CTGCAGGCCCCCCGAGGGGAACCTGCGGGACAGCGACACGT

altered gDNA sequence snippet

CTGCAGGCCCCCCGAGGGGACCCTGCGGGACAGCGACACGT

original cDNA sequence snippet

CTGCAGGCCCCCCGAGGGGAACCTGCGGGACAGCGACACGT

altered cDNA sequence snippet

CTGCAGGCCCCCCGAGGGGACCCTGCGGGACAGCGACACGT

wildtype AA sequence

MVQKSRNGGV YPGPSGEKKL KVGFVGLDPG APDSTRDGAL LIAGSEAPKR GSILSKPRAG
GAGAGKPPKR NAFYRKLQNF LYNVLERPRG WAFIYHAYVF LLVFSCLVLS VFSTIKEYEK
SSEGALYILE IVTIVVFGVE YFVRIWAAGC CCRYRGWRGR LKFARKPFCV IDIMVLIASI
AVLAAGSQGN VFATSALRSL RFLQILRMIR MDRRGGTWKL LGSVVYAHSK ELVTAWYIGF
LCLILASFLV YLAEKGENDH FDTYADALWW GLITLTTIGY GDKYPQTWNG RLLAATFTLI
GVSFFALPAG ILGSGFALKV QEQHRQKHFE KRRNPAAGLI QSAWRFYATN LSRTDLHSTW
QYYERTVTVP MYSSQTQTYG ASRLIPPLNQ LELLRNLKSK SGLAFRKDPP PEPSPSPRGV
AAKGKGSPQA QTVRRSPSAD QSLEDSPSKV PKSWSFGDRS RARQAFRIKG AASRQNSEEA
SLPGEDIVDD KSCPCEFVTE DLTPGLKVSI RAVCVMRFLV SKRKFKESLR PYDVMDVIEQ
YSAGHLDMLS RIKSLQSRVD QIVGRGPAIT DKDRTKGPAE AELPEDPSMM GRLGKVEKQV
LSMEKKLDFL VNIYMQRMGI PPTETEAYFG AKEPEPAPPY HSPEDSREHV DRHGCIVKIV
RSSSSTGQKN FSAPPAAPPV QCPPSTSWQP QSHPRQGHGT SPVGDHGSLV RIPPPPAHER
SLSAYGGGNR ASMEFLRQED TPGCRPPEGN LRDSDTSISI PSVDHEELER SFSGFSISQS
KENLDALNSC YAAVAPCAKV RPYIAEGESD TDSDLCTPCG PPPRSATGEG PFGDVGWAGP
RK*

mutated AA sequence

MVQKSRNGGV YPGPSGEKKL KVGFVGLDPG APDSTRDGAL LIAGSEAPKR GSILSKPRAG
GAGAGKPPKR NAFYRKLQNF LYNVLERPRG WAFIYHAYVF LLVFSCLVLS VFSTIKEYEK
SSEGALYILE IVTIVVFGVE YFVRIWAAGC CCRYRGWRGR LKFARKPFCV IDIMVLIASI
AVLAAGSQGN VFATSALRSL RFLQILRMIR MDRRGGTWKL LGSVVYAHSK ELVTAWYIGF
LCLILASFLV YLAEKGENDH FDTYADALWW GLITLTTIGY GDKYPQTWNG RLLAATFTLI
GVSFFALPAG ILGSGFALKV QEQHRQKHFE KRRNPAAGLI QSAWRFYATN LSRTDLHSTW
QYYERTVTVP MYSSQTQTYG ASRLIPPLNQ LELLRNLKSK SGLAFRKDPP PEPSPSPRGV
AAKGKGSPQA QTVRRSPSAD QSLEDSPSKV PKSWSFGDRS RARQAFRIKG AASRQNSEEA
SLPGEDIVDD KSCPCEFVTE DLTPGLKVSI RAVCVMRFLV SKRKFKESLR PYDVMDVIEQ
YSAGHLDMLS RIKSLQSRVD QIVGRGPAIT DKDRTKGPAE AELPEDPSMM GRLGKVEKQV
LSMEKKLDFL VNIYMQRMGI PPTETEAYFG AKEPEPAPPY HSPEDSREHV DRHGCIVKIV
RSSSSTGQKN FSAPPAAPPV QCPPSTSWQP QSHPRQGHGT SPVGDHGSLV RIPPPPAHER
SLSAYGGGNR ASMEFLRQED TPGCRPPEGT LRDSDTSISI PSVDHEELER SFSGFSISQS
KENLDALNSC YAAVAPCAKV RPYIAEGESD TDSDLCTPCG PPPRSATGEG PFGDVGWAGP
RK*

speed

1.03 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999843083692 (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
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr20:62038277T>GN/A show variant in all transcripts IGV

HGNC symbol

KCNQ2

Ensembl transcript ID

ENST00000360480

Genbank transcript ID

NM_004518

UniProt peptide

O43526

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2255A>C
cDNA.2430A>C
g.65717A>C

AA changes

N752T Score: 65 explain score(s)

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

752

frameshift

known variant

Reference ID: rs1801475

database	homozygous (G/G)	heterozygous	allele carriers
1000G	911	1135	2046
ExAC	19837	-6907	12930

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.584	0.891
	0.774	0.871
(flanking)	1.446	0.695

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	65711	wt: 0.23 / mu: 0.32	wt: CCCGGGCTGCAGGCCCCCCGAGGGGAACCTGCGGGACAGCG mu: CCCGGGCTGCAGGCCCCCCGAGGGGACCCTGCGGGACAGCG	ccga\|GGGG

distance from splice site

452

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

752

mutated

not conserved

752

Ptroglodytes

not conserved

ENSPTRG00000013736

713

Mmulatta

not conserved

ENSMMUG00000015918

767

Fcatus

not conserved

ENSFCAG00000008923

684

Mmusculus

not conserved

ENSMUSG00000016346

778

Ggallus

not conserved

ENSGALG00000005822

762

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no alignment

FBgn0033494

n/a

Celegans

no alignment

C25B8.1

n/a

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
313	872	TOPO_DOM	Cytoplasmic (Potential).	lost
854	854	CONFLICT	R -> C (in Ref. 4; AAD16988).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2535 / 2535

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

845 / 845

position of stopcodon in wt / mu cDNA

2710 / 2710

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

176 / 176

chromosome

strand

-1

last intron/exon boundary

1979

theoretical NMD boundary in CDS

1753

length of CDS

2535

coding sequence (CDS) position

2255

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

2430

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

65717

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

62038277

original gDNA sequence snippet

CTGCAGGCCCCCCGAGGGGAACCTGCGGGACAGCGACACGT

altered gDNA sequence snippet

CTGCAGGCCCCCCGAGGGGACCCTGCGGGACAGCGACACGT

original cDNA sequence snippet

CTGCAGGCCCCCCGAGGGGAACCTGCGGGACAGCGACACGT

altered cDNA sequence snippet

CTGCAGGCCCCCCGAGGGGACCCTGCGGGACAGCGACACGT

wildtype AA sequence

MVQKSRNGGV YPGPSGEKKL KVGFVGLDPG APDSTRDGAL LIAGSEAPKR GSILSKPRAG
GAGAGKPPKR NAFYRKLQNF LYNVLERPRG WAFIYHAYVF LLVFSCLVLS VFSTIKEYEK
SSEGALYILE IVTIVVFGVE YFVRIWAAGC CCRYRGWRGR LKFARKPFCV IDIMVLIASI
AVLAAGSQGN VFATSALRSL RFLQILRMIR MDRRGGTWKL LGSVVYAHSK ELVTAWYIGF
LCLILASFLV YLAEKGENDH FDTYADALWW GLITLTTIGY GDKYPQTWNG RLLAATFTLI
GVSFFALPAG ILGSGFALKV QEQHRQKHFE KRRNPAAGLI QSAWRFYATN LSRTDLHSTW
QYYERTVTVP MYRLIPPLNQ LELLRNLKSK SGLAFRKDPP PEPSPSQKVS LKDRVFSSPR
GVAAKGKGSP QAQTVRRSPS ADQSLEDSPS KVPKSWSFGD RSRARQAFRI KGAASRQNSE
EASLPGEDIV DDKSCPCEFV TEDLTPGLKV SIRAVCVMRF LVSKRKFKES LRPYDVMDVI
EQYSAGHLDM LSRIKSLQSR VDQIVGRGPA ITDKDRTKGP AEAELPEDPS MMGRLGKVEK
QVLSMEKKLD FLVNIYMQRM GIPPTETEAY FGAKEPEPAP PYHSPEDSRE HVDRHGCIVK
IVRSSSSTGQ KNFSAPPAAP PVQCPPSTSW QPQSHPRQGH GTSPVGDHGS LVRIPPPPAH
ERSLSAYGGG NRASMEFLRQ EDTPGCRPPE GNLRDSDTSI SIPSVDHEEL ERSFSGFSIS
QSKENLDALN SCYAAVAPCA KVRPYIAEGE SDTDSDLCTP CGPPPRSATG EGPFGDVGWA
GPRK*

mutated AA sequence

MVQKSRNGGV YPGPSGEKKL KVGFVGLDPG APDSTRDGAL LIAGSEAPKR GSILSKPRAG
GAGAGKPPKR NAFYRKLQNF LYNVLERPRG WAFIYHAYVF LLVFSCLVLS VFSTIKEYEK
SSEGALYILE IVTIVVFGVE YFVRIWAAGC CCRYRGWRGR LKFARKPFCV IDIMVLIASI
AVLAAGSQGN VFATSALRSL RFLQILRMIR MDRRGGTWKL LGSVVYAHSK ELVTAWYIGF
LCLILASFLV YLAEKGENDH FDTYADALWW GLITLTTIGY GDKYPQTWNG RLLAATFTLI
GVSFFALPAG ILGSGFALKV QEQHRQKHFE KRRNPAAGLI QSAWRFYATN LSRTDLHSTW
QYYERTVTVP MYRLIPPLNQ LELLRNLKSK SGLAFRKDPP PEPSPSQKVS LKDRVFSSPR
GVAAKGKGSP QAQTVRRSPS ADQSLEDSPS KVPKSWSFGD RSRARQAFRI KGAASRQNSE
EASLPGEDIV DDKSCPCEFV TEDLTPGLKV SIRAVCVMRF LVSKRKFKES LRPYDVMDVI
EQYSAGHLDM LSRIKSLQSR VDQIVGRGPA ITDKDRTKGP AEAELPEDPS MMGRLGKVEK
QVLSMEKKLD FLVNIYMQRM GIPPTETEAY FGAKEPEPAP PYHSPEDSRE HVDRHGCIVK
IVRSSSSTGQ KNFSAPPAAP PVQCPPSTSW QPQSHPRQGH GTSPVGDHGS LVRIPPPPAH
ERSLSAYGGG NRASMEFLRQ EDTPGCRPPE GTLRDSDTSI SIPSVDHEEL ERSFSGFSIS
QSKENLDALN SCYAAVAPCA KVRPYIAEGE SDTDSDLCTP CGPPPRSATG EGPFGDVGWA
GPRK*

speed

1.03 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999843083692 (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
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr20:62038277T>GN/A show variant in all transcripts IGV

HGNC symbol

KCNQ2

Ensembl transcript ID

ENST00000344462

Genbank transcript ID

N/A

UniProt peptide

O43526

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2327A>C
cDNA.2502A>C
g.65717A>C

AA changes

N776T Score: 65 explain score(s)

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

776

frameshift

known variant

Reference ID: rs1801475

database	homozygous (G/G)	heterozygous	allele carriers
1000G	911	1135	2046
ExAC	19837	-6907	12930

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.584	0.891
	0.774	0.871
(flanking)	1.446	0.695

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	65711	wt: 0.23 / mu: 0.32	wt: CCCGGGCTGCAGGCCCCCCGAGGGGAACCTGCGGGACAGCG mu: CCCGGGCTGCAGGCCCCCCGAGGGGACCCTGCGGGACAGCG	ccga\|GGGG

distance from splice site

452

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

776

mutated

not conserved

776

Ptroglodytes

not conserved

ENSPTRG00000013736

713

Mmulatta

not conserved

ENSMMUG00000015918

767

Fcatus

not conserved

ENSFCAG00000008923

684

Mmusculus

not conserved

ENSMUSG00000016346

778

Ggallus

not conserved

ENSGALG00000005822

762

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no alignment

FBgn0033494

n/a

Celegans

no alignment

C25B8.1

n/a

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
313	872	TOPO_DOM	Cytoplasmic (Potential).	lost
854	854	CONFLICT	R -> C (in Ref. 4; AAD16988).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2607 / 2607

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

869 / 869

position of stopcodon in wt / mu cDNA

2782 / 2782

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

176 / 176

chromosome

strand

-1

last intron/exon boundary

2051

theoretical NMD boundary in CDS

1825

length of CDS

2607

coding sequence (CDS) position

2327

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

2502

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

65717

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

62038277

original gDNA sequence snippet

CTGCAGGCCCCCCGAGGGGAACCTGCGGGACAGCGACACGT

altered gDNA sequence snippet

CTGCAGGCCCCCCGAGGGGACCCTGCGGGACAGCGACACGT

original cDNA sequence snippet

CTGCAGGCCCCCCGAGGGGAACCTGCGGGACAGCGACACGT

altered cDNA sequence snippet

CTGCAGGCCCCCCGAGGGGACCCTGCGGGACAGCGACACGT

wildtype AA sequence

MVQKSRNGGV YPGPSGEKKL KVGFVGLDPG APDSTRDGAL LIAGSEAPKR GSILSKPRAG
GAGAGKPPKR NAFYRKLQNF LYNVLERPRG WAFIYHAYVF LLVFSCLVLS VFSTIKEYEK
SSEGALYILE IVTIVVFGVE YFVRIWAAGC CCRYRGWRGR LKFARKPFCV IDIMVLIASI
AVLAAGSQGN VFATSALRSL RFLQILRMIR MDRRGGTWKL LGSVVYAHSK ELVTAWYIGF
LCLILASFLV YLAEKGENDH FDTYADALWW GLITLTTIGY GDKYPQTWNG RLLAATFTLI
GVSFFALPAG ILGSGFALKV QEQHRQKHFE KRRNPAAGLI QSAWRFYATN LSRTDLHSTW
QYYERTVTVP MYRLIPPLNQ LELLRNLKSK SGLAFRKDPP PEPSPSPRGV AAKGKGSPQA
QTVRRSPSAD QSLEDSPSKV PKSWSFGDRS RARQAFRIKG AASRQNSEEA SLPGEDIVDD
KSCPCEFVTE DLTPGLKVSI RAVCVMRFLV SKRKFKESLR PYDVMDVIEQ YSAGHLDMLS
RIKSLQSRID MIVGPPPPST PRHKKYPTKG PTAPPRESPQ YSPRVDQIVG RGPAITDKDR
TKGPAEAELP EDPSMMGRLG KVEKQVLSME KKLDFLVNIY MQRMGIPPTE TEAYFGAKEP
EPAPPYHSPE DSREHVDRHG CIVKIVRSSS STGQKNFSAP PAAPPVQCPP STSWQPQSHP
RQGHGTSPVG DHGSLVRIPP PPAHERSLSA YGGGNRASME FLRQEDTPGC RPPEGNLRDS
DTSISIPSVD HEELERSFSG FSISQSKENL DALNSCYAAV APCAKVRPYI AEGESDTDSD
LCTPCGPPPR SATGEGPFGD VGWAGPRK*

mutated AA sequence

MVQKSRNGGV YPGPSGEKKL KVGFVGLDPG APDSTRDGAL LIAGSEAPKR GSILSKPRAG
GAGAGKPPKR NAFYRKLQNF LYNVLERPRG WAFIYHAYVF LLVFSCLVLS VFSTIKEYEK
SSEGALYILE IVTIVVFGVE YFVRIWAAGC CCRYRGWRGR LKFARKPFCV IDIMVLIASI
AVLAAGSQGN VFATSALRSL RFLQILRMIR MDRRGGTWKL LGSVVYAHSK ELVTAWYIGF
LCLILASFLV YLAEKGENDH FDTYADALWW GLITLTTIGY GDKYPQTWNG RLLAATFTLI
GVSFFALPAG ILGSGFALKV QEQHRQKHFE KRRNPAAGLI QSAWRFYATN LSRTDLHSTW
QYYERTVTVP MYRLIPPLNQ LELLRNLKSK SGLAFRKDPP PEPSPSPRGV AAKGKGSPQA
QTVRRSPSAD QSLEDSPSKV PKSWSFGDRS RARQAFRIKG AASRQNSEEA SLPGEDIVDD
KSCPCEFVTE DLTPGLKVSI RAVCVMRFLV SKRKFKESLR PYDVMDVIEQ YSAGHLDMLS
RIKSLQSRID MIVGPPPPST PRHKKYPTKG PTAPPRESPQ YSPRVDQIVG RGPAITDKDR
TKGPAEAELP EDPSMMGRLG KVEKQVLSME KKLDFLVNIY MQRMGIPPTE TEAYFGAKEP
EPAPPYHSPE DSREHVDRHG CIVKIVRSSS STGQKNFSAP PAAPPVQCPP STSWQPQSHP
RQGHGTSPVG DHGSLVRIPP PPAHERSLSA YGGGNRASME FLRQEDTPGC RPPEGTLRDS
DTSISIPSVD HEELERSFSG FSISQSKENL DALNSCYAAV APCAKVRPYI AEGESDTDSD
LCTPCGPPPR SATGEGPFGD VGWAGPRK*

speed

0.99 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999843083692 (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
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr20:62038277T>GN/A show variant in all transcripts IGV

HGNC symbol

KCNQ2

Ensembl transcript ID

ENST00000354587

Genbank transcript ID

N/A

UniProt peptide

O43526

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2363A>C
cDNA.2540A>C
g.65717A>C

AA changes

N788T Score: 65 explain score(s)

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

788

frameshift

known variant

Reference ID: rs1801475

database	homozygous (G/G)	heterozygous	allele carriers
1000G	911	1135	2046
ExAC	19837	-6907	12930

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.584	0.891
	0.774	0.871
(flanking)	1.446	0.695

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	65711	wt: 0.23 / mu: 0.32	wt: CCCGGGCTGCAGGCCCCCCGAGGGGAACCTGCGGGACAGCG mu: CCCGGGCTGCAGGCCCCCCGAGGGGACCCTGCGGGACAGCG	ccga\|GGGG

distance from splice site

452

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

788

mutated

not conserved

788

Ptroglodytes

not conserved

ENSPTRG00000013736

713

Mmulatta

not conserved

ENSMMUG00000015918

767

Fcatus

not conserved

ENSFCAG00000008923

684

Mmusculus

not conserved

ENSMUSG00000016346

778

Ggallus

not conserved

ENSGALG00000005822

762

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no alignment

FBgn0033494

n/a

Celegans

no alignment

C25B8.1

n/a

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
313	872	TOPO_DOM	Cytoplasmic (Potential).	lost
854	854	CONFLICT	R -> C (in Ref. 4; AAD16988).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2643 / 2643

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

881 / 881

position of stopcodon in wt / mu cDNA

2820 / 2820

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

178 / 178

chromosome

strand

-1

last intron/exon boundary

2089

theoretical NMD boundary in CDS

1861

length of CDS

2643

coding sequence (CDS) position

2363

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

2540

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

65717

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

62038277

original gDNA sequence snippet

CTGCAGGCCCCCCGAGGGGAACCTGCGGGACAGCGACACGT

altered gDNA sequence snippet

CTGCAGGCCCCCCGAGGGGACCCTGCGGGACAGCGACACGT

original cDNA sequence snippet

CTGCAGGCCCCCCGAGGGGAACCTGCGGGACAGCGACACGT

altered cDNA sequence snippet

CTGCAGGCCCCCCGAGGGGACCCTGCGGGACAGCGACACGT

wildtype AA sequence

MVQKSRNGGV YPGPSGEKKL KVGFVGLDPG APDSTRDGAL LIAGSEAPKR GSILSKPRAG
GAGAGKPPKR NAFYRKLQNF LYNVLERPRG WAFIYHAYVF LLVFSCLVLS VFSTIKEYEK
SSEGALYILE IVTIVVFGVE YFVRIWAAGC CCRYRGWRGR LKFARKPFCV IDIMVLIASI
AVLAAGSQGN VFATSALRSL RFLQILRMIR MDRRGGTWKL LGSVVYAHSK ELVTAWYIGF
LCLILASFLV YLAEKGENDH FDTYADALWW GLITLTTIGY GDKYPQTWNG RLLAATFTLI
GVSFFALPAG ILGSGFALKV QEQHRQKHFE KRRNPAAGLI QSAWRFYATN LSRTDLHSTW
QYYERTVTVP MYRLIPPLNQ LELLRNLKSK SGLAFRKDPP PEPSPSQKVS LKDRVFSSPR
GVAAKGKGSP QAQTVRRSPS ADQSLEDSPS KVPKSWSFGD RSRARQAFRI KGAASRQNSE
EASLPGEDIV DDKSCPCEFV TEDLTPGLKV SIRAVCVMRF LVSKRKFKES LRPYDVMDVI
EQYSAGHLDM LSRIKSLQTG IDMIVGPPPP STPRHKKYPT KGPTAPPRES PQYSPRVDQI
VGRGPAITDK DRTKGPAEAE LPEDPSMMGR LGKVEKQVLS MEKKLDFLVN IYMQRMGIPP
TETEAYFGAK EPEPAPPYHS PEDSREHVDR HGCIVKIVRS SSSTGQKNFS APPAAPPVQC
PPSTSWQPQS HPRQGHGTSP VGDHGSLVRI PPPPAHERSL SAYGGGNRAS MEFLRQEDTP
GCRPPEGNLR DSDTSISIPS VDHEELERSF SGFSISQSKE NLDALNSCYA AVAPCAKVRP
YIAEGESDTD SDLCTPCGPP PRSATGEGPF GDVGWAGPRK *

mutated AA sequence

MVQKSRNGGV YPGPSGEKKL KVGFVGLDPG APDSTRDGAL LIAGSEAPKR GSILSKPRAG
GAGAGKPPKR NAFYRKLQNF LYNVLERPRG WAFIYHAYVF LLVFSCLVLS VFSTIKEYEK
SSEGALYILE IVTIVVFGVE YFVRIWAAGC CCRYRGWRGR LKFARKPFCV IDIMVLIASI
AVLAAGSQGN VFATSALRSL RFLQILRMIR MDRRGGTWKL LGSVVYAHSK ELVTAWYIGF
LCLILASFLV YLAEKGENDH FDTYADALWW GLITLTTIGY GDKYPQTWNG RLLAATFTLI
GVSFFALPAG ILGSGFALKV QEQHRQKHFE KRRNPAAGLI QSAWRFYATN LSRTDLHSTW
QYYERTVTVP MYRLIPPLNQ LELLRNLKSK SGLAFRKDPP PEPSPSQKVS LKDRVFSSPR
GVAAKGKGSP QAQTVRRSPS ADQSLEDSPS KVPKSWSFGD RSRARQAFRI KGAASRQNSE
EASLPGEDIV DDKSCPCEFV TEDLTPGLKV SIRAVCVMRF LVSKRKFKES LRPYDVMDVI
EQYSAGHLDM LSRIKSLQTG IDMIVGPPPP STPRHKKYPT KGPTAPPRES PQYSPRVDQI
VGRGPAITDK DRTKGPAEAE LPEDPSMMGR LGKVEKQVLS MEKKLDFLVN IYMQRMGIPP
TETEAYFGAK EPEPAPPYHS PEDSREHVDR HGCIVKIVRS SSSTGQKNFS APPAAPPVQC
PPSTSWQPQS HPRQGHGTSP VGDHGSLVRI PPPPAHERSL SAYGGGNRAS MEFLRQEDTP
GCRPPEGTLR DSDTSISIPS VDHEELERSF SGFSISQSKE NLDALNSCYA AVAPCAKVRP
YIAEGESDTD SDLCTPCGPP PRSATGEGPF GDVGWAGPRK *

speed

1.00 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999843083692 (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
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr20:62038277T>GN/A show variant in all transcripts IGV

HGNC symbol

KCNQ2

Ensembl transcript ID

ENST00000370224

Genbank transcript ID

N/A

UniProt peptide

O43526

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2363A>C
cDNA.2538A>C
g.65717A>C

AA changes

N788T Score: 65 explain score(s)

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

788

frameshift

known variant

Reference ID: rs1801475

database	homozygous (G/G)	heterozygous	allele carriers
1000G	911	1135	2046
ExAC	19837	-6907	12930

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.584	0.891
	0.774	0.871
(flanking)	1.446	0.695

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	65711	wt: 0.23 / mu: 0.32	wt: CCCGGGCTGCAGGCCCCCCGAGGGGAACCTGCGGGACAGCG mu: CCCGGGCTGCAGGCCCCCCGAGGGGACCCTGCGGGACAGCG	ccga\|GGGG

distance from splice site

452

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

788

mutated

not conserved

788

Ptroglodytes

not conserved

ENSPTRG00000013736

713

Mmulatta

not conserved

ENSMMUG00000015918

767

Fcatus

not conserved

ENSFCAG00000008923

684

Mmusculus

not conserved

ENSMUSG00000016346

778

Ggallus

not conserved

ENSGALG00000005822

762

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no alignment

FBgn0033494

n/a

Celegans

no alignment

C25B8.1

n/a

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
313	872	TOPO_DOM	Cytoplasmic (Potential).	lost
854	854	CONFLICT	R -> C (in Ref. 4; AAD16988).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2643 / 2643

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

881 / 881

position of stopcodon in wt / mu cDNA

2818 / 2818

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

176 / 176

chromosome

strand

-1

last intron/exon boundary

2087

theoretical NMD boundary in CDS

1861

length of CDS

2643

coding sequence (CDS) position

2363

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

2538

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

65717

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

62038277

original gDNA sequence snippet

CTGCAGGCCCCCCGAGGGGAACCTGCGGGACAGCGACACGT

altered gDNA sequence snippet

CTGCAGGCCCCCCGAGGGGACCCTGCGGGACAGCGACACGT

original cDNA sequence snippet

CTGCAGGCCCCCCGAGGGGAACCTGCGGGACAGCGACACGT

altered cDNA sequence snippet

CTGCAGGCCCCCCGAGGGGACCCTGCGGGACAGCGACACGT

wildtype AA sequence

MVQKSRNGGV YPGPSGEKKL KVGFVGLDPG APDSTRDGAL LIAGSEAPKR GSILSKPRAG
GAGAGKPPKR NAFYRKLQNF LYNVLERPRG WAFIYHAYVF LLVFSCLVLS VFSTIKEYEK
SSEGALYILE IVTIVVFGVE YFVRIWAAGC CCRYRGWRGR LKFARKPFCV IDIMVLIASI
AVLAAGSQGN VFATSALRSL RFLQILRMIR MDRRGGTWKL LGSVVYAHSK ELVTAWYIGF
LCLILASFLV YLAEKGENDH FDTYADALWW GLITLTTIGY GDKYPQTWNG RLLAATFTLI
GVSFFALPAG ILGSGFALKV QEQHRQKHFE KRRNPAAGLI QSAWRFYATN LSRTDLHSTW
QYYERTVTVP MYRLIPPLNQ LELLRNLKSK SGLAFRKDPP PEPSPSQKVS LKDRVFSSPR
GVAAKGKGSP QAQTVRRSPS ADQSLEDSPS KVPKSWSFGD RSRARQAFRI KGAASRQNSE
EASLPGEDIV DDKSCPCEFV TEDLTPGLKV SIRAVCVMRF LVSKRKFKES LRPYDVMDVI
EQYSAGHLDM LSRIKSLQSR IDMIVGPPPP STPRHKKYPT KGPTAPPRES PQYSPRVDQI
VGRGPAITDK DRTKGPAEAE LPEDPSMMGR LGKVEKQVLS MEKKLDFLVN IYMQRMGIPP
TETEAYFGAK EPEPAPPYHS PEDSREHVDR HGCIVKIVRS SSSTGQKNFS APPAAPPVQC
PPSTSWQPQS HPRQGHGTSP VGDHGSLVRI PPPPAHERSL SAYGGGNRAS MEFLRQEDTP
GCRPPEGNLR DSDTSISIPS VDHEELERSF SGFSISQSKE NLDALNSCYA AVAPCAKVRP
YIAEGESDTD SDLCTPCGPP PRSATGEGPF GDVGWAGPRK *

mutated AA sequence

MVQKSRNGGV YPGPSGEKKL KVGFVGLDPG APDSTRDGAL LIAGSEAPKR GSILSKPRAG
GAGAGKPPKR NAFYRKLQNF LYNVLERPRG WAFIYHAYVF LLVFSCLVLS VFSTIKEYEK
SSEGALYILE IVTIVVFGVE YFVRIWAAGC CCRYRGWRGR LKFARKPFCV IDIMVLIASI
AVLAAGSQGN VFATSALRSL RFLQILRMIR MDRRGGTWKL LGSVVYAHSK ELVTAWYIGF
LCLILASFLV YLAEKGENDH FDTYADALWW GLITLTTIGY GDKYPQTWNG RLLAATFTLI
GVSFFALPAG ILGSGFALKV QEQHRQKHFE KRRNPAAGLI QSAWRFYATN LSRTDLHSTW
QYYERTVTVP MYRLIPPLNQ LELLRNLKSK SGLAFRKDPP PEPSPSQKVS LKDRVFSSPR
GVAAKGKGSP QAQTVRRSPS ADQSLEDSPS KVPKSWSFGD RSRARQAFRI KGAASRQNSE
EASLPGEDIV DDKSCPCEFV TEDLTPGLKV SIRAVCVMRF LVSKRKFKES LRPYDVMDVI
EQYSAGHLDM LSRIKSLQSR IDMIVGPPPP STPRHKKYPT KGPTAPPRES PQYSPRVDQI
VGRGPAITDK DRTKGPAEAE LPEDPSMMGR LGKVEKQVLS MEKKLDFLVN IYMQRMGIPP
TETEAYFGAK EPEPAPPYHS PEDSREHVDR HGCIVKIVRS SSSTGQKNFS APPAAPPVQC
PPSTSWQPQS HPRQGHGTSP VGDHGSLVRI PPPPAHERSL SAYGGGNRAS MEFLRQEDTP
GCRPPEGTLR DSDTSISIPS VDHEELERSF SGFSISQSKE NLDALNSCYA AVAPCAKVRP
YIAEGESDTD SDLCTPCGPP PRSATGEGPF GDVGWAGPRK *

speed

0.99 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999843083692 (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
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr20:62038277T>GN/A show variant in all transcripts IGV

HGNC symbol

KCNQ2

Ensembl transcript ID

ENST00000359689

Genbank transcript ID

N/A

UniProt peptide

O43526

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2339A>C
cDNA.2516A>C
g.65717A>C

AA changes

N780T Score: 65 explain score(s)

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

780

frameshift

known variant

Reference ID: rs1801475

database	homozygous (G/G)	heterozygous	allele carriers
1000G	911	1135	2046
ExAC	19837	-6907	12930

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.584	0.891
	0.774	0.871
(flanking)	1.446	0.695

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	65711	wt: 0.23 / mu: 0.32	wt: CCCGGGCTGCAGGCCCCCCGAGGGGAACCTGCGGGACAGCG mu: CCCGGGCTGCAGGCCCCCCGAGGGGACCCTGCGGGACAGCG	ccga\|GGGG

distance from splice site

452

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

780

mutated

not conserved

780

Ptroglodytes

not conserved

ENSPTRG00000013736

713

Mmulatta

not conserved

ENSMMUG00000015918

767

Fcatus

not conserved

ENSFCAG00000008923

684

Mmusculus

not conserved

ENSMUSG00000016346

778

Ggallus

not conserved

ENSGALG00000005822

761

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no alignment

FBgn0033494

n/a

Celegans

no alignment

C25B8.1

n/a

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
313	872	TOPO_DOM	Cytoplasmic (Potential).	lost
854	854	CONFLICT	R -> C (in Ref. 4; AAD16988).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2619 / 2619

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

873 / 873

position of stopcodon in wt / mu cDNA

2796 / 2796

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

178 / 178

chromosome

strand

-1

last intron/exon boundary

2065

theoretical NMD boundary in CDS

1837

length of CDS

2619

coding sequence (CDS) position

2339

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

2516

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

65717

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

62038277

original gDNA sequence snippet

CTGCAGGCCCCCCGAGGGGAACCTGCGGGACAGCGACACGT

altered gDNA sequence snippet

CTGCAGGCCCCCCGAGGGGACCCTGCGGGACAGCGACACGT

original cDNA sequence snippet

CTGCAGGCCCCCCGAGGGGAACCTGCGGGACAGCGACACGT

altered cDNA sequence snippet

CTGCAGGCCCCCCGAGGGGACCCTGCGGGACAGCGACACGT

wildtype AA sequence

MVQKSRNGGV YPGPSGEKKL KVGFVGLDPG APDSTRDGAL LIAGSEAPKR GSILSKPRAG
GAGAGKPPKR NAFYRKLQNF LYNVLERPRG WAFIYHAYVF LLVFSCLVLS VFSTIKEYEK
SSEGALYILE IVTIVVFGVE YFVRIWAAGC CCRYRGWRGR LKFARKPFCV IDIMVLIASI
AVLAAGSQGN VFATSALRSL RFLQILRMIR MDRRGGTWKL LGSVVYAHSK ELVTAWYIGF
LCLILASFLV YLAEKGENDH FDTYADALWW GLITLTTIGY GDKYPQTWNG RLLAATFTLI
GVSFFALPAG ILGSGFALKV QEQHRQKHFE KRRNPAAGLI QSAWRFYATN LSRTDLHSTW
QYYERTVTVP MYSSQTQTYG ASRLIPPLNQ LELLRNLKSK SGLAFRKDPP PEPSPSKGSP
CRGPLCGCCP GRSSQKVSLK DRVFSSPRGV AAKGKGSPQA QTVRRSPSAD QSLEDSPSKV
PKSWSFGDRS RARQAFRIKG AASRQNSEEA SLPGEDIVDD KSCPCEFVTE DLTPGLKVSI
RAVCVMRFLV SKRKFKESLR PYDVMDVIEQ YSAGHLDMLS RIKSLQSQVD QIVGRGPAIT
DKDRTKGPAE AELPEDPSMM GRLGKVEKQV LSMEKKLDFL VNIYMQRMGI PPTETEAYFG
AKEPEPAPPY HSPEDSREHV DRHGCIVKIV RSSSSTGQKN FSAPPAAPPV QCPPSTSWQP
QSHPRQGHGT SPVGDHGSLV RIPPPPAHER SLSAYGGGNR ASMEFLRQED TPGCRPPEGN
LRDSDTSISI PSVDHEELER SFSGFSISQS KENLDALNSC YAAVAPCAKV RPYIAEGESD
TDSDLCTPCG PPPRSATGEG PFGDVGWAGP RK*

mutated AA sequence

MVQKSRNGGV YPGPSGEKKL KVGFVGLDPG APDSTRDGAL LIAGSEAPKR GSILSKPRAG
GAGAGKPPKR NAFYRKLQNF LYNVLERPRG WAFIYHAYVF LLVFSCLVLS VFSTIKEYEK
SSEGALYILE IVTIVVFGVE YFVRIWAAGC CCRYRGWRGR LKFARKPFCV IDIMVLIASI
AVLAAGSQGN VFATSALRSL RFLQILRMIR MDRRGGTWKL LGSVVYAHSK ELVTAWYIGF
LCLILASFLV YLAEKGENDH FDTYADALWW GLITLTTIGY GDKYPQTWNG RLLAATFTLI
GVSFFALPAG ILGSGFALKV QEQHRQKHFE KRRNPAAGLI QSAWRFYATN LSRTDLHSTW
QYYERTVTVP MYSSQTQTYG ASRLIPPLNQ LELLRNLKSK SGLAFRKDPP PEPSPSKGSP
CRGPLCGCCP GRSSQKVSLK DRVFSSPRGV AAKGKGSPQA QTVRRSPSAD QSLEDSPSKV
PKSWSFGDRS RARQAFRIKG AASRQNSEEA SLPGEDIVDD KSCPCEFVTE DLTPGLKVSI
RAVCVMRFLV SKRKFKESLR PYDVMDVIEQ YSAGHLDMLS RIKSLQSQVD QIVGRGPAIT
DKDRTKGPAE AELPEDPSMM GRLGKVEKQV LSMEKKLDFL VNIYMQRMGI PPTETEAYFG
AKEPEPAPPY HSPEDSREHV DRHGCIVKIV RSSSSTGQKN FSAPPAAPPV QCPPSTSWQP
QSHPRQGHGT SPVGDHGSLV RIPPPPAHER SLSAYGGGNR ASMEFLRQED TPGCRPPEGT
LRDSDTSISI PSVDHEELER SFSGFSISQS KENLDALNSC YAAVAPCAKV RPYIAEGESD
TDSDLCTPCG PPPRSATGEG PFGDVGWAGP RK*

speed

1.02 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999843083692 (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
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr20:62038277T>GN/A show variant in all transcripts IGV

HGNC symbol

KCNQ2

Ensembl transcript ID

ENST00000430658

Genbank transcript ID

NM_172108

UniProt peptide

O43526

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2246A>C
cDNA.2423A>C
g.65717A>C

AA changes

N749T Score: 65 explain score(s)

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

749

frameshift

known variant

Reference ID: rs1801475

database	homozygous (G/G)	heterozygous	allele carriers
1000G	911	1135	2046
ExAC	19837	-6907	12930

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.584	0.891
	0.774	0.871
(flanking)	1.446	0.695

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	65711	wt: 0.23 / mu: 0.32	wt: CCCGGGCTGCAGGCCCCCCGAGGGGAACCTGCGGGACAGCG mu: CCCGGGCTGCAGGCCCCCCGAGGGGACCCTGCGGGACAGCG	ccga\|GGGG

distance from splice site

452

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

749

mutated

not conserved

749

Ptroglodytes

not conserved

ENSPTRG00000013736

713

Mmulatta

not conserved

ENSMMUG00000015918

767

Fcatus

not conserved

ENSFCAG00000008923

684

Mmusculus

not conserved

ENSMUSG00000016346

778

Ggallus

not conserved

ENSGALG00000005822

762

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no alignment

FBgn0033494

n/a

Celegans

no alignment

C25B8.1

n/a

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
313	872	TOPO_DOM	Cytoplasmic (Potential).	lost
854	854	CONFLICT	R -> C (in Ref. 4; AAD16988).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2526 / 2526

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

842 / 842

position of stopcodon in wt / mu cDNA

2703 / 2703

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

178 / 178

chromosome

strand

-1

last intron/exon boundary

1972

theoretical NMD boundary in CDS

1744

length of CDS

2526

coding sequence (CDS) position

2246

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

2423

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

65717

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

62038277

original gDNA sequence snippet

CTGCAGGCCCCCCGAGGGGAACCTGCGGGACAGCGACACGT

altered gDNA sequence snippet

CTGCAGGCCCCCCGAGGGGACCCTGCGGGACAGCGACACGT

original cDNA sequence snippet

CTGCAGGCCCCCCGAGGGGAACCTGCGGGACAGCGACACGT

altered cDNA sequence snippet

CTGCAGGCCCCCCGAGGGGACCCTGCGGGACAGCGACACGT

wildtype AA sequence

MVQKSRNGGV YPGPSGEKKL KVGFVGLDPG APDSTRDGAL LIAGSEAPKR GSILSKPRAG
GAGAGKPPKR NAFYRKLQNF LYNVLERPRG WAFIYHAYVF LLVFSCLVLS VFSTIKEYEK
SSEGALYILE IVTIVVFGVE YFVRIWAAGC CCRYRGWRGR LKFARKPFCV IDIMVLIASI
AVLAAGSQGN VFATSALRSL RFLQILRMIR MDRRGGTWKL LGSVVYAHSK ELVTAWYIGF
LCLILASFLV YLAEKGENDH FDTYADALWW GLITLTTIGY GDKYPQTWNG RLLAATFTLI
GVSFFALPAG ILGSGFALKV QEQHRQKHFE KRRNPAAGLI QSAWRFYATN LSRTDLHSTW
QYYERTVTVP MYSSQTQTYG ASRLIPPLNQ LELLRNLKSK SGLAFRKDPP PEPSPSPRGV
AAKGKGSPQA QTVRRSPSAD QSLEDSPSKV PKSWSFGDRS RARQAFRIKG AASRQNSEAS
LPGEDIVDDK SCPCEFVTED LTPGLKVSIR AVCVMRFLVS KRKFKESLRP YDVMDVIEQY
SAGHLDMLSR IKSLQSRVDQ IVGRGPAITD KDRTKGPAEA ELPEDPSMMG RLGKVEKQVL
SMEKKLDFLV NIYMQRMGIP PTETEAYFGA KEPEPAPPYH SPEDSREHVD RHGCIVKIVR
SSSSTGQKNF SAPPAAPPVQ CPPSTSWQPQ SHPRQGHGTS PVGDHGSLVR IPPPPAHERS
LSAYGGGNRA SMEFLRQEDT PGCRPPEGNL RDSDTSISIP SVDHEELERS FSGFSISQSK
ENLDALNSCY AAVAPCAKVR PYIAEGESDT DSDLCTPCGP PPRSATGEGP FGDVGWAGPR
K*

mutated AA sequence

MVQKSRNGGV YPGPSGEKKL KVGFVGLDPG APDSTRDGAL LIAGSEAPKR GSILSKPRAG
GAGAGKPPKR NAFYRKLQNF LYNVLERPRG WAFIYHAYVF LLVFSCLVLS VFSTIKEYEK
SSEGALYILE IVTIVVFGVE YFVRIWAAGC CCRYRGWRGR LKFARKPFCV IDIMVLIASI
AVLAAGSQGN VFATSALRSL RFLQILRMIR MDRRGGTWKL LGSVVYAHSK ELVTAWYIGF
LCLILASFLV YLAEKGENDH FDTYADALWW GLITLTTIGY GDKYPQTWNG RLLAATFTLI
GVSFFALPAG ILGSGFALKV QEQHRQKHFE KRRNPAAGLI QSAWRFYATN LSRTDLHSTW
QYYERTVTVP MYSSQTQTYG ASRLIPPLNQ LELLRNLKSK SGLAFRKDPP PEPSPSPRGV
AAKGKGSPQA QTVRRSPSAD QSLEDSPSKV PKSWSFGDRS RARQAFRIKG AASRQNSEAS
LPGEDIVDDK SCPCEFVTED LTPGLKVSIR AVCVMRFLVS KRKFKESLRP YDVMDVIEQY
SAGHLDMLSR IKSLQSRVDQ IVGRGPAITD KDRTKGPAEA ELPEDPSMMG RLGKVEKQVL
SMEKKLDFLV NIYMQRMGIP PTETEAYFGA KEPEPAPPYH SPEDSREHVD RHGCIVKIVR
SSSSTGQKNF SAPPAAPPVQ CPPSTSWQPQ SHPRQGHGTS PVGDHGSLVR IPPPPAHERS
LSAYGGGNRA SMEFLRQEDT PGCRPPEGTL RDSDTSISIP SVDHEELERS FSGFSISQSK
ENLDALNSCY AAVAPCAKVR PYIAEGESDT DSDLCTPCGP PPRSATGEGP FGDVGWAGPR
K*

speed

0.95 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

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems