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 6 transcript(s)...
Querying Taster for transcript #1: ENST00000585892
Querying Taster for transcript #2: ENST00000359692
Querying Taster for transcript #3: ENST00000355667
Querying Taster for transcript #4: ENST00000408974
Querying Taster for transcript #5: ENST00000389253
Querying Taster for transcript #6: ENST00000314646
MT speed 0 s - this script 5.8159 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
DNM2	disease_causing_automatic	0.999999999625626	simple_aae		affected	0	E368K	single base exchange	rs121909092		show file
DNM2	disease_causing_automatic	0.999999999625626	simple_aae		affected	0	E368K	single base exchange	rs121909092		show file
DNM2	disease_causing_automatic	0.999999999625626	simple_aae		affected	0	E368K	single base exchange	rs121909092		show file
DNM2	disease_causing_automatic	0.999999999625626	simple_aae		affected	0	E368K	single base exchange	rs121909092		show file
DNM2	disease_causing_automatic	0.999999999625626	simple_aae		affected	0	E368K	single base exchange	rs121909092		show file
DNM2	disease_causing_automatic	0.999999999625626	simple_aae		affected	0	E368K	single base exchange	rs121909092		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999625626 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM053834)
known disease mutation at this position (HGMD CM076152)
known disease mutation: rs7282 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr19:10904505G>AN/A show variant in all transcripts IGV

HGNC symbol

DNM2

Ensembl transcript ID

ENST00000585892

Genbank transcript ID

N/A

UniProt peptide

P50570

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1102G>A
cDNA.1266G>A
g.75751G>A

AA changes

E368K Score: 56 explain score(s)

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

368

frameshift

known variant

Reference ID: rs121909092

database	homozygous (A/A)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	1	1

known disease mutation: rs7282 (pathogenic for Myopathy|Myopathy, centronuclear, 1|Charcot-Marie-Tooth disease, dominant intermediate B|Centronuclear myopathy|not provided) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM053834)

known disease mutation at this position, please check HGMD for details (HGMD ID CM053834)
known disease mutation at this position, please check HGMD for details (HGMD ID CM076152)

known disease mutation at this position, please check HGMD for details (HGMD ID CM053834)
known disease mutation at this position, please check HGMD for details (HGMD ID CM076152)
known disease mutation at this position, please check HGMD for details (HGMD ID CM053834)

known disease mutation at this position, please check HGMD for details (HGMD ID CM053834)
known disease mutation at this position, please check HGMD for details (HGMD ID CM076152)
known disease mutation at this position, please check HGMD for details (HGMD ID CM053834)
known disease mutation at this position, please check HGMD for details (HGMD ID CM076152)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.804	0.634
	5.541	1
(flanking)	4.576	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	75748	wt: 0.30 / mu: 0.35	wt: CCCGAATCAATCGCATCTTCCACGAGCGGTTCCCATTTGAG mu: CCCGAATCAATCGCATCTTCCACAAGCGGTTCCCATTTGAG	ttcc\|ACGA
Donor increased	75747	wt: 0.71 / mu: 0.95	wt: ATCTTCCACGAGCGG mu: ATCTTCCACAAGCGG	CTTC\|cacg
Donor increased	75749	wt: 0.45 / mu: 0.57	wt: CTTCCACGAGCGGTT mu: CTTCCACAAGCGGTT	TCCA\|cgag
Donor gained	75752	0.49	mu: CCACAAGCGGTTCCC	ACAA\|gcgg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

368

mutated

all conserved

368

Ptroglodytes

all identical

ENSPTRG00000034439

368

Mmulatta

all identical

ENSMMUG00000014677

368

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000033335

368

Ggallus

no homologue

Trubripes

all identical

ENSTRUG00000012106

392

Drerio

all identical

ENSDARG00000069937

368

Dmelanogaster

all identical

FBgn0003392

364

Celegans

all identical

C02C6.1

371

Xtropicalis

all identical

ENSXETG00000009360

369

protein features

start (aa)	end (aa)	feature	details
449	449	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
519	625	DOMAIN	PH.	might get lost (downstream of altered splice site)
522	530	STRAND		might get lost (downstream of altered splice site)
533	535	STRAND		might get lost (downstream of altered splice site)
540	545	STRAND		might get lost (downstream of altered splice site)
550	555	STRAND		might get lost (downstream of altered splice site)
560	565	STRAND		might get lost (downstream of altered splice site)
567	573	STRAND		might get lost (downstream of altered splice site)
585	590	STRAND		might get lost (downstream of altered splice site)
596	599	STRAND		might get lost (downstream of altered splice site)
597	597	MOD_RES	Phosphotyrosine (By similarity).	might get lost (downstream of altered splice site)
598	598	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
601	606	STRAND		might get lost (downstream of altered splice site)
610	623	HELIX		might get lost (downstream of altered splice site)
653	744	DOMAIN	GED.	might get lost (downstream of altered splice site)
747	866	COMPBIAS	Pro-rich.	might get lost (downstream of altered splice site)
764	764	MOD_RES	Phosphoserine; by CDK1 (By similarity).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2610 / 2610

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

870 / 870

position of stopcodon in wt / mu cDNA

2774 / 2774

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

165 / 165

chromosome

strand

last intron/exon boundary

2708

theoretical NMD boundary in CDS

2493

length of CDS

2610

coding sequence (CDS) position

1102

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

1266

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

75751

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

10904505

original gDNA sequence snippet

GAATCAATCGCATCTTCCACGAGCGGTTCCCATTTGAGCTG

altered gDNA sequence snippet

GAATCAATCGCATCTTCCACAAGCGGTTCCCATTTGAGCTG

original cDNA sequence snippet

GAATCAATCGCATCTTCCACGAGCGGTTCCCATTTGAGCTG

altered cDNA sequence snippet

GAATCAATCGCATCTTCCACAAGCGGTTCCCATTTGAGCTG

wildtype AA sequence

MGNRGMEELI PLVNKLQDAF SSIGQSCHLD LPQIAVVGGQ SAGKSSVLEN FVGRDFLPRG
SGIVTRRPLI LQLIFSKTEH AEFLHCKSKK FTDFDEVRQE IEAETDRVTG TNKGISPVPI
NLRVYSPHVL NLTLIDLPGI TKVPVGDQPP DIEYQIKDMI LQFISRESSL ILAVTPANMD
LANSDALKLA KEVDPQGLRT IGVITKLDLM DEGTDARDVL ENKLLPLRRG YIGVVNRSQK
DIEGKKDIRA ALAAERKFFL SHPAYRHMAD RMGTPHLQKT LNQQLTNHIR ESLPALRSKL
QSQLLSLEKE VEEYKNFRPD DPTRKTKALL QMVQQFGVDF EKRIEGSGDQ VDTLELSGGA
RINRIFHERF PFELVKMEFD EKDLRREISY AIKNIHGVRT GLFTPDLAFE AIVKKQVVKL
KEPCLKCVDL VIQELINTVR QCTSKLSSYP RLREETERIV TTYIREREGR TKDQILLLID
IEQSYINTNH EDFIGFANAQ QRSTQLNKKR AIPNQGEILV IRRGWLTINN ISLMKGGSKE
YWFVLTAESL SWYKDEEEKE KKYMLPLDNL KIRDVEKGFM SNKHVFAIFN TEQRNVYKDL
RQIELACDSQ EDVDSWKASF LRAGVYPEKD QAENEDGAQE NTFSMDPQLE RQVETIRNLV
DSYVAIINKS IRDLMPKTIM HLMINNTKAF IHHELLAYLY SSADQSSLME ESADQAQRRD
DMLRMYHALK EALNIIGDIS TSTVSTPVPP PVDDTWLQSA SSHSPTPQRR PVSSIHPPGR
PPAVRGPTPG PPLIPVPVGA AASFSAPPIP SRPGPQSVFA NSDLFPAPPQ IPSRPVRIPP
GIPPGVPRRP PAAPSRPTII RPAEPSLLD*

mutated AA sequence

MGNRGMEELI PLVNKLQDAF SSIGQSCHLD LPQIAVVGGQ SAGKSSVLEN FVGRDFLPRG
SGIVTRRPLI LQLIFSKTEH AEFLHCKSKK FTDFDEVRQE IEAETDRVTG TNKGISPVPI
NLRVYSPHVL NLTLIDLPGI TKVPVGDQPP DIEYQIKDMI LQFISRESSL ILAVTPANMD
LANSDALKLA KEVDPQGLRT IGVITKLDLM DEGTDARDVL ENKLLPLRRG YIGVVNRSQK
DIEGKKDIRA ALAAERKFFL SHPAYRHMAD RMGTPHLQKT LNQQLTNHIR ESLPALRSKL
QSQLLSLEKE VEEYKNFRPD DPTRKTKALL QMVQQFGVDF EKRIEGSGDQ VDTLELSGGA
RINRIFHKRF PFELVKMEFD EKDLRREISY AIKNIHGVRT GLFTPDLAFE AIVKKQVVKL
KEPCLKCVDL VIQELINTVR QCTSKLSSYP RLREETERIV TTYIREREGR TKDQILLLID
IEQSYINTNH EDFIGFANAQ QRSTQLNKKR AIPNQGEILV IRRGWLTINN ISLMKGGSKE
YWFVLTAESL SWYKDEEEKE KKYMLPLDNL KIRDVEKGFM SNKHVFAIFN TEQRNVYKDL
RQIELACDSQ EDVDSWKASF LRAGVYPEKD QAENEDGAQE NTFSMDPQLE RQVETIRNLV
DSYVAIINKS IRDLMPKTIM HLMINNTKAF IHHELLAYLY SSADQSSLME ESADQAQRRD
DMLRMYHALK EALNIIGDIS TSTVSTPVPP PVDDTWLQSA SSHSPTPQRR PVSSIHPPGR
PPAVRGPTPG PPLIPVPVGA AASFSAPPIP SRPGPQSVFA NSDLFPAPPQ IPSRPVRIPP
GIPPGVPRRP PAAPSRPTII RPAEPSLLD*

speed

1.08 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: 0.999999999625626 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM053834)
known disease mutation at this position (HGMD CM076152)
known disease mutation: rs7282 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr19:10904505G>AN/A show variant in all transcripts IGV

HGNC symbol

DNM2

Ensembl transcript ID

ENST00000359692

Genbank transcript ID

NM_001190716

UniProt peptide

P50570

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1102G>A
cDNA.1252G>A
g.75751G>A

AA changes

E368K Score: 56 explain score(s)

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

368

frameshift

known variant

Reference ID: rs121909092

database	homozygous (A/A)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	1	1

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.804	0.634
	5.541	1
(flanking)	4.576	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	75748	wt: 0.30 / mu: 0.35	wt: CCCGAATCAATCGCATCTTCCACGAGCGGTTCCCATTTGAG mu: CCCGAATCAATCGCATCTTCCACAAGCGGTTCCCATTTGAG	ttcc\|ACGA
Donor increased	75747	wt: 0.71 / mu: 0.95	wt: ATCTTCCACGAGCGG mu: ATCTTCCACAAGCGG	CTTC\|cacg
Donor increased	75749	wt: 0.45 / mu: 0.57	wt: CTTCCACGAGCGGTT mu: CTTCCACAAGCGGTT	TCCA\|cgag
Donor gained	75752	0.49	mu: CCACAAGCGGTTCCC	ACAA\|gcgg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

368

mutated

all conserved

368

Ptroglodytes

all identical

ENSPTRG00000034439

368

Mmulatta

all identical

ENSMMUG00000014677

368

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000033335

368

Ggallus

no homologue

Trubripes

all identical

ENSTRUG00000012106

392

Drerio

all identical

ENSDARG00000069937

368

Dmelanogaster

all identical

FBgn0003392

364

Celegans

all identical

C02C6.1

371

Xtropicalis

all identical

ENSXETG00000009360

369

protein features

start (aa)	end (aa)	feature	details
449	449	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
519	625	DOMAIN	PH.	might get lost (downstream of altered splice site)
522	530	STRAND		might get lost (downstream of altered splice site)
533	535	STRAND		might get lost (downstream of altered splice site)
540	545	STRAND		might get lost (downstream of altered splice site)
550	555	STRAND		might get lost (downstream of altered splice site)
560	565	STRAND		might get lost (downstream of altered splice site)
567	573	STRAND		might get lost (downstream of altered splice site)
585	590	STRAND		might get lost (downstream of altered splice site)
596	599	STRAND		might get lost (downstream of altered splice site)
597	597	MOD_RES	Phosphotyrosine (By similarity).	might get lost (downstream of altered splice site)
598	598	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
601	606	STRAND		might get lost (downstream of altered splice site)
610	623	HELIX		might get lost (downstream of altered splice site)
653	744	DOMAIN	GED.	might get lost (downstream of altered splice site)
747	866	COMPBIAS	Pro-rich.	might get lost (downstream of altered splice site)
764	764	MOD_RES	Phosphoserine; by CDK1 (By similarity).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2601 / 2601

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

867 / 867

position of stopcodon in wt / mu cDNA

2751 / 2751

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

151 / 151

chromosome

strand

last intron/exon boundary

2682

theoretical NMD boundary in CDS

2481

length of CDS

2601

coding sequence (CDS) position

1102

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

1252

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

75751

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

10904505

original gDNA sequence snippet

GAATCAATCGCATCTTCCACGAGCGGTTCCCATTTGAGCTG

altered gDNA sequence snippet

GAATCAATCGCATCTTCCACAAGCGGTTCCCATTTGAGCTG

original cDNA sequence snippet

GAATCAATCGCATCTTCCACGAGCGGTTCCCATTTGAGCTG

altered cDNA sequence snippet

GAATCAATCGCATCTTCCACAAGCGGTTCCCATTTGAGCTG

wildtype AA sequence

MGNRGMEELI PLVNKLQDAF SSIGQSCHLD LPQIAVVGGQ SAGKSSVLEN FVGRDFLPRG
SGIVTRRPLI LQLIFSKTEH AEFLHCKSKK FTDFDEVRQE IEAETDRVTG TNKGISPVPI
NLRVYSPHVL NLTLIDLPGI TKVPVGDQPP DIEYQIKDMI LQFISRESSL ILAVTPANMD
LANSDALKLA KEVDPQGLRT IGVITKLDLM DEGTDARDVL ENKLLPLRRG YIGVVNRSQK
DIEGKKDIRA ALAAERKFFL SHPAYRHMAD RMGTPHLQKT LNQQLTNHIR ESLPALRSKL
QSQLLSLEKE VEEYKNFRPD DPTRKTKALL QMVQQFGVDF EKRIEGSGDQ VDTLELSGGA
RINRIFHERF PFELVKMEFD EKDLRREISY AIKNIHGVRT GLFTPDLAFE AIVKKQVVKL
KEPCLKCVDL VIQELINTVR QCTSKLSSYP RLREETERIV TTYIREREGR TKDQILLLID
IEQSYINTNH EDFIGFANAQ QRSTQLNKKR AIPNQVIRRG WLTINNISLM KGGSKEYWFV
LTAESLSWYK DEEEKEKKYM LPLDNLKIRD VEKGFMSNKH VFAIFNTEQR NVYKDLRQIE
LACDSQEDVD SWKASFLRAG VYPEKDQAEN EDGAQENTFS MDPQLERQVE TIRNLVDSYV
AIINKSIRDL MPKTIMHLMI NNTKAFIHHE LLAYLYSSAD QSSLMEESAD QAQRRDDMLR
MYHALKEALN IIGDISTSTV STPVPPPVDD TWLQSASSHS PTPQRRPVSS IHPPGRPPAV
RGPTPGPPLI PVPVGAAASF SAPPIPSRPG PQSVFANSDL FPAPPQIPSR PVRIPPGIPP
GVPSRRPPAA PSRPTIIRPA EPSLLD*

mutated AA sequence

MGNRGMEELI PLVNKLQDAF SSIGQSCHLD LPQIAVVGGQ SAGKSSVLEN FVGRDFLPRG
SGIVTRRPLI LQLIFSKTEH AEFLHCKSKK FTDFDEVRQE IEAETDRVTG TNKGISPVPI
NLRVYSPHVL NLTLIDLPGI TKVPVGDQPP DIEYQIKDMI LQFISRESSL ILAVTPANMD
LANSDALKLA KEVDPQGLRT IGVITKLDLM DEGTDARDVL ENKLLPLRRG YIGVVNRSQK
DIEGKKDIRA ALAAERKFFL SHPAYRHMAD RMGTPHLQKT LNQQLTNHIR ESLPALRSKL
QSQLLSLEKE VEEYKNFRPD DPTRKTKALL QMVQQFGVDF EKRIEGSGDQ VDTLELSGGA
RINRIFHKRF PFELVKMEFD EKDLRREISY AIKNIHGVRT GLFTPDLAFE AIVKKQVVKL
KEPCLKCVDL VIQELINTVR QCTSKLSSYP RLREETERIV TTYIREREGR TKDQILLLID
IEQSYINTNH EDFIGFANAQ QRSTQLNKKR AIPNQVIRRG WLTINNISLM KGGSKEYWFV
LTAESLSWYK DEEEKEKKYM LPLDNLKIRD VEKGFMSNKH VFAIFNTEQR NVYKDLRQIE
LACDSQEDVD SWKASFLRAG VYPEKDQAEN EDGAQENTFS MDPQLERQVE TIRNLVDSYV
AIINKSIRDL MPKTIMHLMI NNTKAFIHHE LLAYLYSSAD QSSLMEESAD QAQRRDDMLR
MYHALKEALN IIGDISTSTV STPVPPPVDD TWLQSASSHS PTPQRRPVSS IHPPGRPPAV
RGPTPGPPLI PVPVGAAASF SAPPIPSRPG PQSVFANSDL FPAPPQIPSR PVRIPPGIPP
GVPSRRPPAA PSRPTIIRPA EPSLLD*

speed

1.29 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999625626 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM053834)
known disease mutation at this position (HGMD CM076152)
known disease mutation: rs7282 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr19:10904505G>AN/A show variant in all transcripts IGV

HGNC symbol

DNM2

Ensembl transcript ID

ENST00000355667

Genbank transcript ID

NM_001005360

UniProt peptide

P50570

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1102G>A
cDNA.1182G>A
g.75751G>A

AA changes

E368K Score: 56 explain score(s)

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

368

frameshift

known variant

Reference ID: rs121909092

database	homozygous (A/A)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	1	1

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.804	0.634
	5.541	1
(flanking)	4.576	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	75748	wt: 0.30 / mu: 0.35	wt: CCCGAATCAATCGCATCTTCCACGAGCGGTTCCCATTTGAG mu: CCCGAATCAATCGCATCTTCCACAAGCGGTTCCCATTTGAG	ttcc\|ACGA
Donor increased	75747	wt: 0.71 / mu: 0.95	wt: ATCTTCCACGAGCGG mu: ATCTTCCACAAGCGG	CTTC\|cacg
Donor increased	75749	wt: 0.45 / mu: 0.57	wt: CTTCCACGAGCGGTT mu: CTTCCACAAGCGGTT	TCCA\|cgag
Donor gained	75752	0.49	mu: CCACAAGCGGTTCCC	ACAA\|gcgg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

368

mutated

all conserved

368

Ptroglodytes

all identical

ENSPTRG00000034439

368

Mmulatta

all identical

ENSMMUG00000014677

368

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000033335

368

Ggallus

no homologue

Trubripes

all identical

ENSTRUG00000012106

392

Drerio

all identical

ENSDARG00000069937

368

Dmelanogaster

all identical

FBgn0003392

364

Celegans

all identical

C02C6.1

371

Xtropicalis

all identical

ENSXETG00000009360

369

protein features

start (aa)	end (aa)	feature	details
449	449	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
519	625	DOMAIN	PH.	might get lost (downstream of altered splice site)
522	530	STRAND		might get lost (downstream of altered splice site)
533	535	STRAND		might get lost (downstream of altered splice site)
540	545	STRAND		might get lost (downstream of altered splice site)
550	555	STRAND		might get lost (downstream of altered splice site)
560	565	STRAND		might get lost (downstream of altered splice site)
567	573	STRAND		might get lost (downstream of altered splice site)
585	590	STRAND		might get lost (downstream of altered splice site)
596	599	STRAND		might get lost (downstream of altered splice site)
597	597	MOD_RES	Phosphotyrosine (By similarity).	might get lost (downstream of altered splice site)
598	598	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
601	606	STRAND		might get lost (downstream of altered splice site)
610	623	HELIX		might get lost (downstream of altered splice site)
653	744	DOMAIN	GED.	might get lost (downstream of altered splice site)
747	866	COMPBIAS	Pro-rich.	might get lost (downstream of altered splice site)
764	764	MOD_RES	Phosphoserine; by CDK1 (By similarity).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2613 / 2613

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

871 / 871

position of stopcodon in wt / mu cDNA

2693 / 2693

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

81 / 81

chromosome

strand

last intron/exon boundary

2624

theoretical NMD boundary in CDS

2493

length of CDS

2613

coding sequence (CDS) position

1102

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

1182

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

75751

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

10904505

original gDNA sequence snippet

GAATCAATCGCATCTTCCACGAGCGGTTCCCATTTGAGCTG

altered gDNA sequence snippet

GAATCAATCGCATCTTCCACAAGCGGTTCCCATTTGAGCTG

original cDNA sequence snippet

GAATCAATCGCATCTTCCACGAGCGGTTCCCATTTGAGCTG

altered cDNA sequence snippet

GAATCAATCGCATCTTCCACAAGCGGTTCCCATTTGAGCTG

wildtype AA sequence

mutated AA sequence

MGNRGMEELI PLVNKLQDAF SSIGQSCHLD LPQIAVVGGQ SAGKSSVLEN FVGRDFLPRG
SGIVTRRPLI LQLIFSKTEH AEFLHCKSKK FTDFDEVRQE IEAETDRVTG TNKGISPVPI
NLRVYSPHVL NLTLIDLPGI TKVPVGDQPP DIEYQIKDMI LQFISRESSL ILAVTPANMD
LANSDALKLA KEVDPQGLRT IGVITKLDLM DEGTDARDVL ENKLLPLRRG YIGVVNRSQK
DIEGKKDIRA ALAAERKFFL SHPAYRHMAD RMGTPHLQKT LNQQLTNHIR ESLPALRSKL
QSQLLSLEKE VEEYKNFRPD DPTRKTKALL QMVQQFGVDF EKRIEGSGDQ VDTLELSGGA
RINRIFHKRF PFELVKMEFD EKDLRREISY AIKNIHGVRT GLFTPDLAFE AIVKKQVVKL
KEPCLKCVDL VIQELINTVR QCTSKLSSYP RLREETERIV TTYIREREGR TKDQILLLID
IEQSYINTNH EDFIGFANAQ QRSTQLNKKR AIPNQGEILV IRRGWLTINN ISLMKGGSKE
YWFVLTAESL SWYKDEEEKE KKYMLPLDNL KIRDVEKGFM SNKHVFAIFN TEQRNVYKDL
RQIELACDSQ EDVDSWKASF LRAGVYPEKD QAENEDGAQE NTFSMDPQLE RQVETIRNLV
DSYVAIINKS IRDLMPKTIM HLMINNTKAF IHHELLAYLY SSADQSSLME ESADQAQRRD
DMLRMYHALK EALNIIGDIS TSTVSTPVPP PVDDTWLQSA SSHSPTPQRR PVSSIHPPGR
PPAVRGPTPG PPLIPVPVGA AASFSAPPIP SRPGPQSVFA NSDLFPAPPQ IPSRPVRIPP
GIPPGVPSRR PPAAPSRPTI IRPAEPSLLD *

speed

1.10 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999625626 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM053834)
known disease mutation at this position (HGMD CM076152)
known disease mutation: rs7282 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr19:10904505G>AN/A show variant in all transcripts IGV

HGNC symbol

DNM2

Ensembl transcript ID

ENST00000408974

Genbank transcript ID

NM_001005362

UniProt peptide

P50570

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1102G>A
cDNA.1137G>A
g.75751G>A

AA changes

E368K Score: 56 explain score(s)

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

368

frameshift

known variant

Reference ID: rs121909092

database	homozygous (A/A)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	1	1

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.804	0.634
	5.541	1
(flanking)	4.576	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	75748	wt: 0.30 / mu: 0.35	wt: CCCGAATCAATCGCATCTTCCACGAGCGGTTCCCATTTGAG mu: CCCGAATCAATCGCATCTTCCACAAGCGGTTCCCATTTGAG	ttcc\|ACGA
Donor increased	75747	wt: 0.71 / mu: 0.95	wt: ATCTTCCACGAGCGG mu: ATCTTCCACAAGCGG	CTTC\|cacg
Donor increased	75749	wt: 0.45 / mu: 0.57	wt: CTTCCACGAGCGGTT mu: CTTCCACAAGCGGTT	TCCA\|cgag
Donor gained	75752	0.49	mu: CCACAAGCGGTTCCC	ACAA\|gcgg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

368

mutated

all conserved

368

Ptroglodytes

all identical

ENSPTRG00000034439

368

Mmulatta

all identical

ENSMMUG00000014677

368

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000033335

368

Ggallus

no homologue

Trubripes

all identical

ENSTRUG00000012106

392

Drerio

all identical

ENSDARG00000069937

368

Dmelanogaster

all identical

FBgn0003392

364

Celegans

all identical

C02C6.1

371

Xtropicalis

all identical

ENSXETG00000009360

369

protein features

start (aa)	end (aa)	feature	details
449	449	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
519	625	DOMAIN	PH.	might get lost (downstream of altered splice site)
522	530	STRAND		might get lost (downstream of altered splice site)
533	535	STRAND		might get lost (downstream of altered splice site)
540	545	STRAND		might get lost (downstream of altered splice site)
550	555	STRAND		might get lost (downstream of altered splice site)
560	565	STRAND		might get lost (downstream of altered splice site)
567	573	STRAND		might get lost (downstream of altered splice site)
585	590	STRAND		might get lost (downstream of altered splice site)
596	599	STRAND		might get lost (downstream of altered splice site)
597	597	MOD_RES	Phosphotyrosine (By similarity).	might get lost (downstream of altered splice site)
598	598	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
601	606	STRAND		might get lost (downstream of altered splice site)
610	623	HELIX		might get lost (downstream of altered splice site)
653	744	DOMAIN	GED.	might get lost (downstream of altered splice site)
747	866	COMPBIAS	Pro-rich.	might get lost (downstream of altered splice site)
764	764	MOD_RES	Phosphoserine; by CDK1 (By similarity).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2601 / 2601

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

867 / 867

position of stopcodon in wt / mu cDNA

2636 / 2636

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

36 / 36

chromosome

strand

last intron/exon boundary

2567

theoretical NMD boundary in CDS

2481

length of CDS

2601

coding sequence (CDS) position

1102

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

1137

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

75751

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

10904505

original gDNA sequence snippet

GAATCAATCGCATCTTCCACGAGCGGTTCCCATTTGAGCTG

altered gDNA sequence snippet

GAATCAATCGCATCTTCCACAAGCGGTTCCCATTTGAGCTG

original cDNA sequence snippet

GAATCAATCGCATCTTCCACGAGCGGTTCCCATTTGAGCTG

altered cDNA sequence snippet

GAATCAATCGCATCTTCCACAAGCGGTTCCCATTTGAGCTG

wildtype AA sequence

MGNRGMEELI PLVNKLQDAF SSIGQSCHLD LPQIAVVGGQ SAGKSSVLEN FVGRDFLPRG
SGIVTRRPLI LQLIFSKTEH AEFLHCKSKK FTDFDEVRQE IEAETDRVTG TNKGISPVPI
NLRVYSPHVL NLTLIDLPGI TKVPVGDQPP DIEYQIKDMI LQFISRESSL ILAVTPANMD
LANSDALKLA KEVDPQGLRT IGVITKLDLM DEGTDARDVL ENKLLPLRRG YIGVVNRSQK
DIEGKKDIRA ALAAERKFFL SHPAYRHMAD RMGTPHLQKT LNQQLTNHIR ESLPALRSKL
QSQLLSLEKE VEEYKNFRPD DPTRKTKALL QMVQQFGVDF EKRIEGSGDQ VDTLELSGGA
RINRIFHERF PFELVKMEFD EKDLRREISY AIKNIHGVRT GLFTPDMAFE AIVKKQIVKL
KEPSLKCVDL VVSELATVIK KCAEKLSSYP RLREETERIV TTYIREREGR TKDQILLLID
IEQSYINTNH EDFIGFANAQ QRSTQLNKKR AIPNQVIRRG WLTINNISLM KGGSKEYWFV
LTAESLSWYK DEEEKEKKYM LPLDNLKIRD VEKGFMSNKH VFAIFNTEQR NVYKDLRQIE
LACDSQEDVD SWKASFLRAG VYPEKDQAEN EDGAQENTFS MDPQLERQVE TIRNLVDSYV
AIINKSIRDL MPKTIMHLMI NNTKAFIHHE LLAYLYSSAD QSSLMEESAD QAQRRDDMLR
MYHALKEALN IIGDISTSTV STPVPPPVDD TWLQSASSHS PTPQRRPVSS IHPPGRPPAV
RGPTPGPPLI PVPVGAAASF SAPPIPSRPG PQSVFANSDL FPAPPQIPSR PVRIPPGIPP
GVPSRRPPAA PSRPTIIRPA EPSLLD*

mutated AA sequence

MGNRGMEELI PLVNKLQDAF SSIGQSCHLD LPQIAVVGGQ SAGKSSVLEN FVGRDFLPRG
SGIVTRRPLI LQLIFSKTEH AEFLHCKSKK FTDFDEVRQE IEAETDRVTG TNKGISPVPI
NLRVYSPHVL NLTLIDLPGI TKVPVGDQPP DIEYQIKDMI LQFISRESSL ILAVTPANMD
LANSDALKLA KEVDPQGLRT IGVITKLDLM DEGTDARDVL ENKLLPLRRG YIGVVNRSQK
DIEGKKDIRA ALAAERKFFL SHPAYRHMAD RMGTPHLQKT LNQQLTNHIR ESLPALRSKL
QSQLLSLEKE VEEYKNFRPD DPTRKTKALL QMVQQFGVDF EKRIEGSGDQ VDTLELSGGA
RINRIFHKRF PFELVKMEFD EKDLRREISY AIKNIHGVRT GLFTPDMAFE AIVKKQIVKL
KEPSLKCVDL VVSELATVIK KCAEKLSSYP RLREETERIV TTYIREREGR TKDQILLLID
IEQSYINTNH EDFIGFANAQ QRSTQLNKKR AIPNQVIRRG WLTINNISLM KGGSKEYWFV
LTAESLSWYK DEEEKEKKYM LPLDNLKIRD VEKGFMSNKH VFAIFNTEQR NVYKDLRQIE
LACDSQEDVD SWKASFLRAG VYPEKDQAEN EDGAQENTFS MDPQLERQVE TIRNLVDSYV
AIINKSIRDL MPKTIMHLMI NNTKAFIHHE LLAYLYSSAD QSSLMEESAD QAQRRDDMLR
MYHALKEALN IIGDISTSTV STPVPPPVDD TWLQSASSHS PTPQRRPVSS IHPPGRPPAV
RGPTPGPPLI PVPVGAAASF SAPPIPSRPG PQSVFANSDL FPAPPQIPSR PVRIPPGIPP
GVPSRRPPAA PSRPTIIRPA EPSLLD*

speed

1.09 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999625626 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM053834)
known disease mutation at this position (HGMD CM076152)
known disease mutation: rs7282 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr19:10904505G>AN/A show variant in all transcripts IGV

HGNC symbol

DNM2

Ensembl transcript ID

ENST00000389253

Genbank transcript ID

NM_001005361

UniProt peptide

P50570

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1102G>A
cDNA.1266G>A
g.75751G>A

AA changes

E368K Score: 56 explain score(s)

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

368

frameshift

known variant

Reference ID: rs121909092

database	homozygous (A/A)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	1	1

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.804	0.634
	5.541	1
(flanking)	4.576	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	75748	wt: 0.30 / mu: 0.35	wt: CCCGAATCAATCGCATCTTCCACGAGCGGTTCCCATTTGAG mu: CCCGAATCAATCGCATCTTCCACAAGCGGTTCCCATTTGAG	ttcc\|ACGA
Donor increased	75747	wt: 0.71 / mu: 0.95	wt: ATCTTCCACGAGCGG mu: ATCTTCCACAAGCGG	CTTC\|cacg
Donor increased	75749	wt: 0.45 / mu: 0.57	wt: CTTCCACGAGCGGTT mu: CTTCCACAAGCGGTT	TCCA\|cgag
Donor gained	75752	0.49	mu: CCACAAGCGGTTCCC	ACAA\|gcgg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

368

mutated

all conserved

368

Ptroglodytes

all identical

ENSPTRG00000034439

368

Mmulatta

all identical

ENSMMUG00000014677

368

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000033335

368

Ggallus

no homologue

Trubripes

all identical

ENSTRUG00000012106

392

Drerio

all identical

ENSDARG00000069937

368

Dmelanogaster

all identical

FBgn0003392

364

Celegans

all identical

C02C6.1

371

Xtropicalis

all identical

ENSXETG00000009360

369

protein features

start (aa)	end (aa)	feature	details
449	449	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
519	625	DOMAIN	PH.	might get lost (downstream of altered splice site)
522	530	STRAND		might get lost (downstream of altered splice site)
533	535	STRAND		might get lost (downstream of altered splice site)
540	545	STRAND		might get lost (downstream of altered splice site)
550	555	STRAND		might get lost (downstream of altered splice site)
560	565	STRAND		might get lost (downstream of altered splice site)
567	573	STRAND		might get lost (downstream of altered splice site)
585	590	STRAND		might get lost (downstream of altered splice site)
596	599	STRAND		might get lost (downstream of altered splice site)
597	597	MOD_RES	Phosphotyrosine (By similarity).	might get lost (downstream of altered splice site)
598	598	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
601	606	STRAND		might get lost (downstream of altered splice site)
610	623	HELIX		might get lost (downstream of altered splice site)
653	744	DOMAIN	GED.	might get lost (downstream of altered splice site)
747	866	COMPBIAS	Pro-rich.	might get lost (downstream of altered splice site)
764	764	MOD_RES	Phosphoserine; by CDK1 (By similarity).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2613 / 2613

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

871 / 871

position of stopcodon in wt / mu cDNA

2777 / 2777

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

165 / 165

chromosome

strand

last intron/exon boundary

2708

theoretical NMD boundary in CDS

2493

length of CDS

2613

coding sequence (CDS) position

1102

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

1266

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

75751

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

10904505

original gDNA sequence snippet

GAATCAATCGCATCTTCCACGAGCGGTTCCCATTTGAGCTG

altered gDNA sequence snippet

GAATCAATCGCATCTTCCACAAGCGGTTCCCATTTGAGCTG

original cDNA sequence snippet

GAATCAATCGCATCTTCCACGAGCGGTTCCCATTTGAGCTG

altered cDNA sequence snippet

GAATCAATCGCATCTTCCACAAGCGGTTCCCATTTGAGCTG

wildtype AA sequence

MGNRGMEELI PLVNKLQDAF SSIGQSCHLD LPQIAVVGGQ SAGKSSVLEN FVGRDFLPRG
SGIVTRRPLI LQLIFSKTEH AEFLHCKSKK FTDFDEVRQE IEAETDRVTG TNKGISPVPI
NLRVYSPHVL NLTLIDLPGI TKVPVGDQPP DIEYQIKDMI LQFISRESSL ILAVTPANMD
LANSDALKLA KEVDPQGLRT IGVITKLDLM DEGTDARDVL ENKLLPLRRG YIGVVNRSQK
DIEGKKDIRA ALAAERKFFL SHPAYRHMAD RMGTPHLQKT LNQQLTNHIR ESLPALRSKL
QSQLLSLEKE VEEYKNFRPD DPTRKTKALL QMVQQFGVDF EKRIEGSGDQ VDTLELSGGA
RINRIFHERF PFELVKMEFD EKDLRREISY AIKNIHGVRT GLFTPDMAFE AIVKKQIVKL
KEPSLKCVDL VVSELATVIK KCAEKLSSYP RLREETERIV TTYIREREGR TKDQILLLID
IEQSYINTNH EDFIGFANAQ QRSTQLNKKR AIPNQGEILV IRRGWLTINN ISLMKGGSKE
YWFVLTAESL SWYKDEEEKE KKYMLPLDNL KIRDVEKGFM SNKHVFAIFN TEQRNVYKDL
RQIELACDSQ EDVDSWKASF LRAGVYPEKD QAENEDGAQE NTFSMDPQLE RQVETIRNLV
DSYVAIINKS IRDLMPKTIM HLMINNTKAF IHHELLAYLY SSADQSSLME ESADQAQRRD
DMLRMYHALK EALNIIGDIS TSTVSTPVPP PVDDTWLQSA SSHSPTPQRR PVSSIHPPGR
PPAVRGPTPG PPLIPVPVGA AASFSAPPIP SRPGPQSVFA NSDLFPAPPQ IPSRPVRIPP
GIPPGVPSRR PPAAPSRPTI IRPAEPSLLD *

mutated AA sequence

MGNRGMEELI PLVNKLQDAF SSIGQSCHLD LPQIAVVGGQ SAGKSSVLEN FVGRDFLPRG
SGIVTRRPLI LQLIFSKTEH AEFLHCKSKK FTDFDEVRQE IEAETDRVTG TNKGISPVPI
NLRVYSPHVL NLTLIDLPGI TKVPVGDQPP DIEYQIKDMI LQFISRESSL ILAVTPANMD
LANSDALKLA KEVDPQGLRT IGVITKLDLM DEGTDARDVL ENKLLPLRRG YIGVVNRSQK
DIEGKKDIRA ALAAERKFFL SHPAYRHMAD RMGTPHLQKT LNQQLTNHIR ESLPALRSKL
QSQLLSLEKE VEEYKNFRPD DPTRKTKALL QMVQQFGVDF EKRIEGSGDQ VDTLELSGGA
RINRIFHKRF PFELVKMEFD EKDLRREISY AIKNIHGVRT GLFTPDMAFE AIVKKQIVKL
KEPSLKCVDL VVSELATVIK KCAEKLSSYP RLREETERIV TTYIREREGR TKDQILLLID
IEQSYINTNH EDFIGFANAQ QRSTQLNKKR AIPNQGEILV IRRGWLTINN ISLMKGGSKE
YWFVLTAESL SWYKDEEEKE KKYMLPLDNL KIRDVEKGFM SNKHVFAIFN TEQRNVYKDL
RQIELACDSQ EDVDSWKASF LRAGVYPEKD QAENEDGAQE NTFSMDPQLE RQVETIRNLV
DSYVAIINKS IRDLMPKTIM HLMINNTKAF IHHELLAYLY SSADQSSLME ESADQAQRRD
DMLRMYHALK EALNIIGDIS TSTVSTPVPP PVDDTWLQSA SSHSPTPQRR PVSSIHPPGR
PPAVRGPTPG PPLIPVPVGA AASFSAPPIP SRPGPQSVFA NSDLFPAPPQ IPSRPVRIPP
GIPPGVPSRR PPAAPSRPTI IRPAEPSLLD *

speed

1.15 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999625626 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM053834)
known disease mutation at this position (HGMD CM076152)
known disease mutation: rs7282 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr19:10904505G>AN/A show variant in all transcripts IGV

HGNC symbol

DNM2

Ensembl transcript ID

ENST00000314646

Genbank transcript ID

N/A

UniProt peptide

P50570

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1102G>A
cDNA.1266G>A
g.75751G>A

AA changes

E368K Score: 56 explain score(s)

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

368

frameshift

known variant

Reference ID: rs121909092

database	homozygous (A/A)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	1	1

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.804	0.634
	5.541	1
(flanking)	4.576	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	75748	wt: 0.30 / mu: 0.35	wt: CCCGAATCAATCGCATCTTCCACGAGCGGTTCCCATTTGAG mu: CCCGAATCAATCGCATCTTCCACAAGCGGTTCCCATTTGAG	ttcc\|ACGA
Donor increased	75747	wt: 0.71 / mu: 0.95	wt: ATCTTCCACGAGCGG mu: ATCTTCCACAAGCGG	CTTC\|cacg
Donor increased	75749	wt: 0.45 / mu: 0.57	wt: CTTCCACGAGCGGTT mu: CTTCCACAAGCGGTT	TCCA\|cgag
Donor gained	75752	0.49	mu: CCACAAGCGGTTCCC	ACAA\|gcgg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

368

mutated

all conserved

368

Ptroglodytes

all identical

ENSPTRG00000034439

368

Mmulatta

all identical

ENSMMUG00000014677

368

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000033335

368

Ggallus

no homologue

Trubripes

all identical

ENSTRUG00000012106

392

Drerio

all identical

ENSDARG00000069937

368

Dmelanogaster

all identical

FBgn0003392

364

Celegans

all identical

C02C6.1

371

Xtropicalis

all identical

ENSXETG00000009360

369

protein features

start (aa)	end (aa)	feature	details
449	449	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
519	625	DOMAIN	PH.	might get lost (downstream of altered splice site)
522	530	STRAND		might get lost (downstream of altered splice site)
533	535	STRAND		might get lost (downstream of altered splice site)
540	545	STRAND		might get lost (downstream of altered splice site)
550	555	STRAND		might get lost (downstream of altered splice site)
560	565	STRAND		might get lost (downstream of altered splice site)
567	573	STRAND		might get lost (downstream of altered splice site)
585	590	STRAND		might get lost (downstream of altered splice site)
596	599	STRAND		might get lost (downstream of altered splice site)
597	597	MOD_RES	Phosphotyrosine (By similarity).	might get lost (downstream of altered splice site)
598	598	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
601	606	STRAND		might get lost (downstream of altered splice site)
610	623	HELIX		might get lost (downstream of altered splice site)
653	744	DOMAIN	GED.	might get lost (downstream of altered splice site)
747	866	COMPBIAS	Pro-rich.	might get lost (downstream of altered splice site)
764	764	MOD_RES	Phosphoserine; by CDK1 (By similarity).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2613 / 2613

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

871 / 871

position of stopcodon in wt / mu cDNA

2777 / 2777

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

165 / 165

chromosome

strand

last intron/exon boundary

2708

theoretical NMD boundary in CDS

2493

length of CDS

2613

coding sequence (CDS) position

1102

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

1266

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

75751

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

10904505

original gDNA sequence snippet

GAATCAATCGCATCTTCCACGAGCGGTTCCCATTTGAGCTG

altered gDNA sequence snippet

GAATCAATCGCATCTTCCACAAGCGGTTCCCATTTGAGCTG

original cDNA sequence snippet

GAATCAATCGCATCTTCCACGAGCGGTTCCCATTTGAGCTG

altered cDNA sequence snippet

GAATCAATCGCATCTTCCACAAGCGGTTCCCATTTGAGCTG

wildtype AA sequence

MGNRGMEELI PLVNKLQDAF SSIGQSCHLD LPQIAVVGGQ SAGKSSVLEN FVGRDFLPRG
SGIVTRRPLI LQLIFSKTEH AEFLHCKSKK FTDFDEVRQE IEAETDRVTG TNKGISPVPI
NLRVYSPHVL NLTLIDLPGI TKVPVGDQPP DIEYQIKDMI LQFISRESSL ILAVTPANMD
LANSDALKLA KEVDPQGLRT IGVITKLDLM DEGTDARDVL ENKLLPLRRG YIGVVNRSQK
DIEGKKDIRA ALAAERKFFL SHPAYRHMAD RMGTPHLQKT LNQQLTNHIR ESLPALRSKL
QSQLLSLEKE VEEYKNFRPD DPTRKTKALL QMVQQFGVDF EKRIEGSGDQ VDTLELSGGA
RINRIFHERF PFELVKMEFD EKDLRREISY AIKNIHGVRT GLFTPDMAFE AIVKKQIVKL
KEPSLKCVDL VVSELATVIK KCAEKLSSYP RLREETERIV TTYIREREGR TKDQILLLID
IEQSYINTNH EDFIGFANAQ QRSTQLNKKR AIPNQPETLV IRRGWLTINN ISLMKGGSKE
YWFVLTAESL SWYKDEEEKE KKYMLPLDNL KIRDVEKGFM SNKHVFAIFN TEQRNVYKDL
RQIELACDSQ EDVDSWKASF LRAGVYPEKD QAENEDGAQE NTFSMDPQLE RQVETIRNLV
DSYVAIINKS IRDLMPKTIM HLMINNTKAF IHHELLAYLY SSADQSSLME ESADQAQRRD
DMLRMYHALK EALNIIGDIS TSTVSTPVPP PVDDTWLQSA SSHSPTPQRR PVSSIHPPGR
PPAVRGPTPG PPLIPVPVGA AASFSAPPIP SRPGPQSVFA NSDLFPAPPQ IPSRPVRIPP
GIPPGVPSRR PPAAPSRPTI IRPAEPSLLD *

mutated AA sequence

MGNRGMEELI PLVNKLQDAF SSIGQSCHLD LPQIAVVGGQ SAGKSSVLEN FVGRDFLPRG
SGIVTRRPLI LQLIFSKTEH AEFLHCKSKK FTDFDEVRQE IEAETDRVTG TNKGISPVPI
NLRVYSPHVL NLTLIDLPGI TKVPVGDQPP DIEYQIKDMI LQFISRESSL ILAVTPANMD
LANSDALKLA KEVDPQGLRT IGVITKLDLM DEGTDARDVL ENKLLPLRRG YIGVVNRSQK
DIEGKKDIRA ALAAERKFFL SHPAYRHMAD RMGTPHLQKT LNQQLTNHIR ESLPALRSKL
QSQLLSLEKE VEEYKNFRPD DPTRKTKALL QMVQQFGVDF EKRIEGSGDQ VDTLELSGGA
RINRIFHKRF PFELVKMEFD EKDLRREISY AIKNIHGVRT GLFTPDMAFE AIVKKQIVKL
KEPSLKCVDL VVSELATVIK KCAEKLSSYP RLREETERIV TTYIREREGR TKDQILLLID
IEQSYINTNH EDFIGFANAQ QRSTQLNKKR AIPNQPETLV IRRGWLTINN ISLMKGGSKE
YWFVLTAESL SWYKDEEEKE KKYMLPLDNL KIRDVEKGFM SNKHVFAIFN TEQRNVYKDL
RQIELACDSQ EDVDSWKASF LRAGVYPEKD QAENEDGAQE NTFSMDPQLE RQVETIRNLV
DSYVAIINKS IRDLMPKTIM HLMINNTKAF IHHELLAYLY SSADQSSLME ESADQAQRRD
DMLRMYHALK EALNIIGDIS TSTVSTPVPP PVDDTWLQSA SSHSPTPQRR PVSSIHPPGR
PPAVRGPTPG PPLIPVPVGA AASFSAPPIP SRPGPQSVFA NSDLFPAPPQ IPSRPVRIPP
GIPPGVPSRR PPAAPSRPTI IRPAEPSLLD *

speed

1.11 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

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

Problems