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 5 transcript(s)...
Querying Taster for transcript #1: ENST00000262794
Querying Taster for transcript #2: ENST00000395858
Querying Taster for transcript #3: ENST00000545383
Querying Taster for transcript #4: ENST00000540615
Querying Taster for transcript #5: ENST00000395843
MT speed 0 s - this script 4.570912 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
MOV10L1	polymorphism_automatic	3.59712259978551e-14	simple_aae		affected		Q820R	single base exchange	rs2272837		show file
MOV10L1	polymorphism_automatic	3.59712259978551e-14	simple_aae		affected		Q820R	single base exchange	rs2272837		show file
MOV10L1	polymorphism_automatic	3.59712259978551e-14	simple_aae		affected		Q820R	single base exchange	rs2272837		show file
MOV10L1	polymorphism_automatic	3.59712259978551e-14	simple_aae		affected		Q800R	single base exchange	rs2272837		show file
MOV10L1	polymorphism_automatic	6.84472632195288e-06	without_aae		affected			single base exchange	rs2272837		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999964 (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)

chr22:50582626A>GN/A show variant in all transcripts IGV

HGNC symbol

MOV10L1

Ensembl transcript ID

ENST00000262794

Genbank transcript ID

NM_018995

UniProt peptide

Q9BXT6

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2459A>G
cDNA.2542A>G
g.54319A>G

AA changes

Q820R Score: 43 explain score(s)

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

820

frameshift

known variant

Reference ID: rs2272837

database	homozygous (G/G)	heterozygous	allele carriers
1000G	361	968	1329
ExAC	6239	20289	26528

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
CTCF, Transcription Factor, CCCTC-binding factor

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.645	0
	0.017	0
(flanking)	-0.33	0

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
Donor increased	54313	wt: 0.27 / mu: 0.93	wt: CAAGGTGCTACAGCC mu: CAAGGTGCTACGGCC	AGGT\|gcta

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

820

mutated

all conserved

820

Ptroglodytes

no homologue

Mmulatta

no alignment

ENSMMUG00000009120

n/a

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000015365

874

Ggallus

all conserved

ENSGALG00000008570

827

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000059037

562

Dmelanogaster

not conserved

FBgn0041164

859

Celegans

no homologue

Xtropicalis

all conserved

ENSXETG00000022273

729

protein features

start (aa)	end (aa)	feature	details
886	889	MOTIF	DEAG box.	might get lost (downstream of altered splice site)
1063	1063	CONFLICT	I -> V (in Ref. 2; BAA90895).	might get lost (downstream of altered splice site)
1096	1096	CONFLICT	F -> L (in Ref. 2; BAA90895).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3636 / 3636

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

1212 / 1212

position of stopcodon in wt / mu cDNA

3719 / 3719

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

84 / 84

chromosome

strand

last intron/exon boundary

3638

theoretical NMD boundary in CDS

3504

length of CDS

3636

coding sequence (CDS) position

2459

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

2542

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

54319

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

50582626

original gDNA sequence snippet

GCACGAGAGCAAGGTGCTACAGCCGGCCACCATGGTCCGGG

altered gDNA sequence snippet

GCACGAGAGCAAGGTGCTACGGCCGGCCACCATGGTCCGGG

original cDNA sequence snippet

GCACGAGAGCAAGGTGCTACAGCCGGCCACCATGGTCCGGG

altered cDNA sequence snippet

GCACGAGAGCAAGGTGCTACGGCCGGCCACCATGGTCCGGG

wildtype AA sequence

MLSLAAKLVA FFWRTADTPR EEAGQLEPEL AEGDTKLKTV RGVVTRYCSD YGMIDDMIYF
SSDAVTSRVL LNVGQEVIAV VEENKVSNGL KAIRVEAVSD KWEDDSRNHG SPSDCGPRVL
IGCVTSLVEG AGCISQTTYF SLESVCEGFE PCKGDWVEAE YRIRPGTWSS EATSVKPLRY
KRVDKVCISS LCGRNGVLEE SIFFTLDSLK LPDGYTPRRG DVVNAVVVES SQSCYVWRAL
CMTLVKRRDA APVHEATHFY GTILLKNKGD IEVTQVTHFG TLKEGRSKTM VIWIENKGDI
PQNLVSCKLA GWDKSKQFRF QMLDKDQMCP VVSFVSVPEK ENSSDENINS LNSHTKNKTS
QMSESSLVNN RGISPGDCTC KGENGEKDNI LSRKQMTEPE PGGLVPPGGK TFIVVICDGK
NPGRCKELLL LCFSDFLIGR YLEVNVISGE ESLIAAREPF SWKKLKSSQA LTSAKTTVVV
TAQKRNSRRQ LPSFLPQYPI PDRLRKCVEQ KIDILTFQPL LAELLNMSNY KEKFSTLLWL
EEIYAEMELK EYNMSGIILR RNGDLLVLEV PGLAEGRPSL YAGDKLILKT QEYNGHAIEY
ISYVTEIHEE DVTLKINPEF EQAYNFEPMD VEFTYNRTTS RRCHFALEHV IHLGVKVLFP
EEIILQSPQV TGNWNHAQDT KSSGQSTSKK NRKTMTDQAE HGTEERRVGD KDLPVLAPFT
AEMSDWVDEI QTPKARKMEF FNPVLNENQK LAVKRILSGD CRPLPYILFG PPGTGKTVTI
IEAVLQVHFA LPDSRILVCA PSNSAADLVC LRLHESKVLQ PATMVRVNAT CRFEEIVIDA
VKPYCRDGED IWKASRFRII ITTCSSSGLF YQIGVRVGHF THVFVDEAGQ ASEPECLIPL
GLMSDISGQI VLAGDPMQLG PVIKSRLAMA YGLNVSFLER LMSRPAYQRD ENAFGACGAH
NPLLVTKLVK NYRSHEALLM LPSRLFYHRE LEVCADPTVV TSLLGWEKLP KKGFPLIFHG
VRGSEAREGK SPSWFNPAEA VQVLRYCCLL AHSISSQVSA SDIGVITPYR KQVEKIRILL
RNVDLMDIKV GSVEEFQGQE YLVIIISTVR SNEDRFEDDR YFLGFLSNSK RFNVAITRPK
ALLIVLGNPH VLVRDPCFGA LLEYSITNGV YMGCDLPPAL QSLQNCGEGV ADPSYPVVPE
STGPEKHQEP S*

mutated AA sequence

MLSLAAKLVA FFWRTADTPR EEAGQLEPEL AEGDTKLKTV RGVVTRYCSD YGMIDDMIYF
SSDAVTSRVL LNVGQEVIAV VEENKVSNGL KAIRVEAVSD KWEDDSRNHG SPSDCGPRVL
IGCVTSLVEG AGCISQTTYF SLESVCEGFE PCKGDWVEAE YRIRPGTWSS EATSVKPLRY
KRVDKVCISS LCGRNGVLEE SIFFTLDSLK LPDGYTPRRG DVVNAVVVES SQSCYVWRAL
CMTLVKRRDA APVHEATHFY GTILLKNKGD IEVTQVTHFG TLKEGRSKTM VIWIENKGDI
PQNLVSCKLA GWDKSKQFRF QMLDKDQMCP VVSFVSVPEK ENSSDENINS LNSHTKNKTS
QMSESSLVNN RGISPGDCTC KGENGEKDNI LSRKQMTEPE PGGLVPPGGK TFIVVICDGK
NPGRCKELLL LCFSDFLIGR YLEVNVISGE ESLIAAREPF SWKKLKSSQA LTSAKTTVVV
TAQKRNSRRQ LPSFLPQYPI PDRLRKCVEQ KIDILTFQPL LAELLNMSNY KEKFSTLLWL
EEIYAEMELK EYNMSGIILR RNGDLLVLEV PGLAEGRPSL YAGDKLILKT QEYNGHAIEY
ISYVTEIHEE DVTLKINPEF EQAYNFEPMD VEFTYNRTTS RRCHFALEHV IHLGVKVLFP
EEIILQSPQV TGNWNHAQDT KSSGQSTSKK NRKTMTDQAE HGTEERRVGD KDLPVLAPFT
AEMSDWVDEI QTPKARKMEF FNPVLNENQK LAVKRILSGD CRPLPYILFG PPGTGKTVTI
IEAVLQVHFA LPDSRILVCA PSNSAADLVC LRLHESKVLR PATMVRVNAT CRFEEIVIDA
VKPYCRDGED IWKASRFRII ITTCSSSGLF YQIGVRVGHF THVFVDEAGQ ASEPECLIPL
GLMSDISGQI VLAGDPMQLG PVIKSRLAMA YGLNVSFLER LMSRPAYQRD ENAFGACGAH
NPLLVTKLVK NYRSHEALLM LPSRLFYHRE LEVCADPTVV TSLLGWEKLP KKGFPLIFHG
VRGSEAREGK SPSWFNPAEA VQVLRYCCLL AHSISSQVSA SDIGVITPYR KQVEKIRILL
RNVDLMDIKV GSVEEFQGQE YLVIIISTVR SNEDRFEDDR YFLGFLSNSK RFNVAITRPK
ALLIVLGNPH VLVRDPCFGA LLEYSITNGV YMGCDLPPAL QSLQNCGEGV ADPSYPVVPE
STGPEKHQEP S*

speed

0.98 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: 0.999999999999964 (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)

chr22:50582626A>GN/A show variant in all transcripts IGV

HGNC symbol

MOV10L1

Ensembl transcript ID

ENST00000545383

Genbank transcript ID

N/A

UniProt peptide

Q9BXT6

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2459A>G
cDNA.2543A>G
g.54319A>G

AA changes

Q820R Score: 43 explain score(s)

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

820

frameshift

known variant

Reference ID: rs2272837

database	homozygous (G/G)	heterozygous	allele carriers
1000G	361	968	1329
ExAC	6239	20289	26528

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.645	0
	0.017	0
(flanking)	-0.33	0

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
Donor increased	54313	wt: 0.27 / mu: 0.93	wt: CAAGGTGCTACAGCC mu: CAAGGTGCTACGGCC	AGGT\|gcta

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

820

mutated

all conserved

820

Ptroglodytes

no homologue

Mmulatta

no alignment

ENSMMUG00000009120

n/a

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000015365

874

Ggallus

all conserved

ENSGALG00000008570

827

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000059037

562

Dmelanogaster

not conserved

FBgn0041164

859

Celegans

no homologue

Xtropicalis

all conserved

ENSXETG00000022273

729

protein features

start (aa)	end (aa)	feature	details
886	889	MOTIF	DEAG box.	might get lost (downstream of altered splice site)
1063	1063	CONFLICT	I -> V (in Ref. 2; BAA90895).	might get lost (downstream of altered splice site)
1096	1096	CONFLICT	F -> L (in Ref. 2; BAA90895).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3636 / 3636

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

1212 / 1212

position of stopcodon in wt / mu cDNA

3720 / 3720

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

85 / 85

chromosome

strand

last intron/exon boundary

3639

theoretical NMD boundary in CDS

3504

length of CDS

3636

coding sequence (CDS) position

2459

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

2543

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

54319

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

50582626

original gDNA sequence snippet

GCACGAGAGCAAGGTGCTACAGCCGGCCACCATGGTCCGGG

altered gDNA sequence snippet

GCACGAGAGCAAGGTGCTACGGCCGGCCACCATGGTCCGGG

original cDNA sequence snippet

GCACGAGAGCAAGGTGCTACAGCCGGCCACCATGGTCCGGG

altered cDNA sequence snippet

GCACGAGAGCAAGGTGCTACGGCCGGCCACCATGGTCCGGG

wildtype AA sequence

mutated AA sequence

MLSLAAKLVA FFWRTADTPR EEAGQLEPEL AEGDTKLKTV RGVVTRYCSD YGMIDDMIYF
SSDAVTSRVL LNVGQEVIAV VEENKVSNGL KAIRVEAVSD KWEDDSRNHG SPSDCGPRVL
IGCVTSLVEG AGCISQTTYF SLESVCEGFE PCKGDWVEAE YRIRPGTWSS EATSVKPLRY
KRVDKVCISS LCGRNGVLEE SIFFTLDSLK LPDGYTPRRG DVVNAVVVES SQSCYVWRAL
CMTLVKRRDA APVHEATHFY GTILLKNKGD IEVTQVTHFG TLKEGRSKTM VIWIENKGDI
PQNLVSCKLA GWDKSKQFRF QMLDKDQMCP VVSFVSVPEK ENSSDENINS LNSHTKNKTS
QMSESSLVNN RGISPGDCTC KGENGEKDNI LSRKQMTEPE PGGLVPPGGK TFIVVICDGK
NPGRCKELLL LCFSDFLIGR YLEVNVISGE ESLIAAREPF SWKKLKSSQA LTSAKTTVVV
TAQKRNSRRQ LPSFLPQYPI PDRLRKCVEQ KIDILTFQPL LAELLNMSNY KEKFSTLLWL
EEIYAEMELK EYNMSGIILR RNGDLLVLEV PGLAEGRPSL YAGDKLILKT QEYNGHAIEY
ISYVTEIHEE DVTLKINPEF EQAYNFEPMD VEFTYNRTTS RRCHFALEHV IHLGVKVLFP
EEIILQSPQV TGNWNHAQDT KSSGQSTSKK NRKTMTDQAE HGTEERRVGD KDLPVLAPFT
AEMSDWVDEI QTPKARKMEF FNPVLNENQK LAVKRILSGD CRPLPYILFG PPGTGKTVTI
IEAVLQVHFA LPDSRILVCA PSNSAADLVC LRLHESKVLR PATMVRVNAT CRFEEIVIDA
VKPYCRDGED IWKASRFRII ITTCSSSGLF YQIGVRVGHF THVFVDEAGQ ASEPECLIPL
GLMSDISGQI VLAGDPMQLG PVIKSRLAMA YGLNVSFLER LMSRPAYQRD ENAFGACGAH
NPLLVTKLVK NYRSHEALLM LPSRLFYHRE LEVCADPTVV TSLLGWEKLP KKGFPLIFHG
VRGSEAREGK SPSWFNPAEA VQVLRYCCLL AHSISSQVSA SDIGVITPYR KQVEKIRILL
RNVDLMDIKV GSVEEFQGQE YLVIIISTVR SNEDRFEDDR YFLGFLSNSK RFNVAITRPK
ALLIVLGNPH VLVRDPCFGA LLEYSITNGV YMGCDLPPAL QSLQNCGEGV ADPSYPVVPE
STGPEKHQEP S*

speed

0.82 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999964 (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)

chr22:50582626A>GN/A show variant in all transcripts IGV

HGNC symbol

MOV10L1

Ensembl transcript ID

ENST00000395858

Genbank transcript ID

NM_001164104

UniProt peptide

Q9BXT6

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2459A>G
cDNA.2483A>G
g.54319A>G

AA changes

Q820R Score: 43 explain score(s)

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

820

frameshift

known variant

Reference ID: rs2272837

database	homozygous (G/G)	heterozygous	allele carriers
1000G	361	968	1329
ExAC	6239	20289	26528

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.645	0
	0.017	0
(flanking)	-0.33	0

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
Donor increased	54313	wt: 0.27 / mu: 0.93	wt: CAAGGTGCTACAGCC mu: CAAGGTGCTACGGCC	AGGT\|gcta

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

820

mutated

all conserved

820

Ptroglodytes

no homologue

Mmulatta

no alignment

ENSMMUG00000009120

n/a

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000015365

874

Ggallus

all conserved

ENSGALG00000008570

827

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000059037

562

Dmelanogaster

not conserved

FBgn0041164

859

Celegans

no homologue

Xtropicalis

all conserved

ENSXETG00000022273

729

protein features

start (aa)	end (aa)	feature	details
886	889	MOTIF	DEAG box.	might get lost (downstream of altered splice site)
1063	1063	CONFLICT	I -> V (in Ref. 2; BAA90895).	might get lost (downstream of altered splice site)
1096	1096	CONFLICT	F -> L (in Ref. 2; BAA90895).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3498 / 3498

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

1166 / 1166

position of stopcodon in wt / mu cDNA

3522 / 3522

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

25 / 25

chromosome

strand

last intron/exon boundary

3441

theoretical NMD boundary in CDS

3366

length of CDS

3498

coding sequence (CDS) position

2459

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

2483

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

54319

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

50582626

original gDNA sequence snippet

GCACGAGAGCAAGGTGCTACAGCCGGCCACCATGGTCCGGG

altered gDNA sequence snippet

GCACGAGAGCAAGGTGCTACGGCCGGCCACCATGGTCCGGG

original cDNA sequence snippet

GCACGAGAGCAAGGTGCTACAGCCGGCCACCATGGTCCGGG

altered cDNA sequence snippet

GCACGAGAGCAAGGTGCTACGGCCGGCCACCATGGTCCGGG

wildtype AA sequence

MLSLAAKLVA FFWRTADTPR EEAGQLEPEL AEGDTKLKTV RGVVTRYCSD YGMIDDMIYF
SSDAVTSRVL LNVGQEVIAV VEENKVSNGL KAIRVEAVSD KWEDDSRNHG SPSDCGPRVL
IGCVTSLVEG AGCISQTTYF SLESVCEGFE PCKGDWVEAE YRIRPGTWSS EATSVKPLRY
KRVDKVCISS LCGRNGVLEE SIFFTLDSLK LPDGYTPRRG DVVNAVVVES SQSCYVWRAL
CMTLVKRRDA APVHEATHFY GTILLKNKGD IEVTQVTHFG TLKEGRSKTM VIWIENKGDI
PQNLVSCKLA GWDKSKQFRF QMLDKDQMCP VVSFVSVPEK ENSSDENINS LNSHTKNKTS
QMSESSLVNN RGISPGDCTC KGENGEKDNI LSRKQMTEPE PGGLVPPGGK TFIVVICDGK
NPGRCKELLL LCFSDFLIGR YLEVNVISGE ESLIAAREPF SWKKLKSSQA LTSAKTTVVV
TAQKRNSRRQ LPSFLPQYPI PDRLRKCVEQ KIDILTFQPL LAELLNMSNY KEKFSTLLWL
EEIYAEMELK EYNMSGIILR RNGDLLVLEV PGLAEGRPSL YAGDKLILKT QEYNGHAIEY
ISYVTEIHEE DVTLKINPEF EQAYNFEPMD VEFTYNRTTS RRCHFALEHV IHLGVKVLFP
EEIILQSPQV TGNWNHAQDT KSSGQSTSKK NRKTMTDQAE HGTEERRVGD KDLPVLAPFT
AEMSDWVDEI QTPKARKMEF FNPVLNENQK LAVKRILSGD CRPLPYILFG PPGTGKTVTI
IEAVLQVHFA LPDSRILVCA PSNSAADLVC LRLHESKVLQ PATMVRVNAT CRFEEIVIDA
VKPYCRDGED IWKASRFRII ITTCSSSGLF YQIGVRVGHF THVFVDEAGQ ASEPECLIPL
GLMSDISGQI VLAGDPMQLG PVIKSRLAMA YGLNVSFLER LMSRPAYQRD ENAFGACGAH
NPLLVTKLVK NYRSHEALLM LPSRLFYHRE LEVCADPTVV TSLLGWEKLP KKGFPLIFHG
VRGSEAREGK SPSWFNPAEA VQVLRYCCLL AHSISSQVSA SDIGVITPYR KQVEKIRILL
RNVDLMDIKV GSVEEFQGQE YLVIIISTDP CFGALLEYSI TNGVYMGCDL PPALQSLQNC
GEGVADPSYP VVPESTGPEK HQEPS*

mutated AA sequence

MLSLAAKLVA FFWRTADTPR EEAGQLEPEL AEGDTKLKTV RGVVTRYCSD YGMIDDMIYF
SSDAVTSRVL LNVGQEVIAV VEENKVSNGL KAIRVEAVSD KWEDDSRNHG SPSDCGPRVL
IGCVTSLVEG AGCISQTTYF SLESVCEGFE PCKGDWVEAE YRIRPGTWSS EATSVKPLRY
KRVDKVCISS LCGRNGVLEE SIFFTLDSLK LPDGYTPRRG DVVNAVVVES SQSCYVWRAL
CMTLVKRRDA APVHEATHFY GTILLKNKGD IEVTQVTHFG TLKEGRSKTM VIWIENKGDI
PQNLVSCKLA GWDKSKQFRF QMLDKDQMCP VVSFVSVPEK ENSSDENINS LNSHTKNKTS
QMSESSLVNN RGISPGDCTC KGENGEKDNI LSRKQMTEPE PGGLVPPGGK TFIVVICDGK
NPGRCKELLL LCFSDFLIGR YLEVNVISGE ESLIAAREPF SWKKLKSSQA LTSAKTTVVV
TAQKRNSRRQ LPSFLPQYPI PDRLRKCVEQ KIDILTFQPL LAELLNMSNY KEKFSTLLWL
EEIYAEMELK EYNMSGIILR RNGDLLVLEV PGLAEGRPSL YAGDKLILKT QEYNGHAIEY
ISYVTEIHEE DVTLKINPEF EQAYNFEPMD VEFTYNRTTS RRCHFALEHV IHLGVKVLFP
EEIILQSPQV TGNWNHAQDT KSSGQSTSKK NRKTMTDQAE HGTEERRVGD KDLPVLAPFT
AEMSDWVDEI QTPKARKMEF FNPVLNENQK LAVKRILSGD CRPLPYILFG PPGTGKTVTI
IEAVLQVHFA LPDSRILVCA PSNSAADLVC LRLHESKVLR PATMVRVNAT CRFEEIVIDA
VKPYCRDGED IWKASRFRII ITTCSSSGLF YQIGVRVGHF THVFVDEAGQ ASEPECLIPL
GLMSDISGQI VLAGDPMQLG PVIKSRLAMA YGLNVSFLER LMSRPAYQRD ENAFGACGAH
NPLLVTKLVK NYRSHEALLM LPSRLFYHRE LEVCADPTVV TSLLGWEKLP KKGFPLIFHG
VRGSEAREGK SPSWFNPAEA VQVLRYCCLL AHSISSQVSA SDIGVITPYR KQVEKIRILL
RNVDLMDIKV GSVEEFQGQE YLVIIISTDP CFGALLEYSI TNGVYMGCDL PPALQSLQNC
GEGVADPSYP VVPESTGPEK HQEPS*

speed

1.00 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999964 (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)

chr22:50582626A>GN/A show variant in all transcripts IGV

HGNC symbol

MOV10L1

Ensembl transcript ID

ENST00000540615

Genbank transcript ID

NM_001164105

UniProt peptide

Q9BXT6

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2399A>G
cDNA.2619A>G
g.54319A>G

AA changes

Q800R Score: 43 explain score(s)

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

800

frameshift

known variant

Reference ID: rs2272837

database	homozygous (G/G)	heterozygous	allele carriers
1000G	361	968	1329
ExAC	6239	20289	26528

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.645	0
	0.017	0
(flanking)	-0.33	0

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
Donor increased	54313	wt: 0.27 / mu: 0.93	wt: CAAGGTGCTACAGCC mu: CAAGGTGCTACGGCC	AGGT\|gcta

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

800

mutated

all conserved

800

Ptroglodytes

no homologue

Mmulatta

no alignment

ENSMMUG00000009120

n/a

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000015365

874

Ggallus

all conserved

ENSGALG00000008570

827

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000059037

562

Dmelanogaster

not conserved

FBgn0041164

859

Celegans

no homologue

Xtropicalis

all conserved

ENSXETG00000022273

729

protein features

start (aa)	end (aa)	feature	details
886	889	MOTIF	DEAG box.	might get lost (downstream of altered splice site)
1063	1063	CONFLICT	I -> V (in Ref. 2; BAA90895).	might get lost (downstream of altered splice site)
1096	1096	CONFLICT	F -> L (in Ref. 2; BAA90895).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3498 / 3498

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

1166 / 1166

position of stopcodon in wt / mu cDNA

3718 / 3718

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

221 / 221

chromosome

strand

last intron/exon boundary

3623

theoretical NMD boundary in CDS

3352

length of CDS

3498

coding sequence (CDS) position

2399

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

2619

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

54319

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

50582626

original gDNA sequence snippet

GCACGAGAGCAAGGTGCTACAGCCGGCCACCATGGTCCGGG

altered gDNA sequence snippet

GCACGAGAGCAAGGTGCTACGGCCGGCCACCATGGTCCGGG

original cDNA sequence snippet

GCACGAGAGCAAGGTGCTACAGCCGGCCACCATGGTCCGGG

altered cDNA sequence snippet

GCACGAGAGCAAGGTGCTACGGCCGGCCACCATGGTCCGGG

wildtype AA sequence

MSFLPVRSVI GGGDTKLKTV RGVVTRYCSD YGMIDDMIYF SSDAVTSRVL LNVGQEVIAV
VEENKVSNGL KAIRVEAVSD KWEDDSRNHG SPSDCGPRVL IGCVTSLVEG AGCISQTTYF
SLESVCEGFE PCKGDWVEAE YRIRPGTWSS EATSVKPLRY KRVDKVCISS LCGRNGVLEE
SIFFTLDSLK LPDGYTPRRG DVVNAVVVES SQSCYVWRAL CMTLVKRRDA APVHEATHFY
GTILLKNKGD IEVTQVTHFG TLKEGRSKTM VIWIENKGDI PQNLVSCKLA GWDKSKQFRF
QMLDKDQMCP VVSFVSVPEK ENSSDENINS LNSHTKNKTS QMSESSLVNN RGISPGDCTC
KGENGEKDNI LSRKQMTEPE PGGLVPPGGK TFIVVICDGK NPGRCKELLL LCFSDFLIGR
YLEVNVISGE ESLIAAREPF SWKKLKSSQA LTSAKTTVVV TAQKRNSRRQ LPSFLPQYPI
PDRLRKCVEQ KIDILTFQPL LAELLNMSNY KEKFSTLLWL EEIYAEMELK EYNMSGIILR
RNGDLLVLEV PGLAEGRPSL YAGDKLILKT QEYNGHAIEY ISYVTEIHEE DVTLKINPEF
EQAYNFEPMD VEFTYNRTTS RRCHFALEHV IHLGVKVLFP EEIILQSPQV TGNWNHAQDT
KSSGQSTSKK NRKTMTDQAE HGTEERRVGD KDLPVLAPFT AEMSDWVDEI QTPKARKMEF
FNPVLNENQK LAVKRILSGD CRPLPYILFG PPGTGKTVTI IEAVLQVHFA LPDSRILVCA
PSNSAADLVC LRLHESKVLQ PATMVRVNAT CRFEEIVIDA VKPYCRDGED IWKASRFRII
ITTCSSSGLF YQIGVRVGHF THVFVDEAGQ ASEPECLIPL GLMSDISGQI VLAGDPMQLG
PVIKSRLAMA YGLNVSFLER LMSRPAYQRD ENAFGACGAH NPLLVTKLVK NYRSHEALLM
LPSRLFYHRE LEVCADPTVV TSLLGWEKLP KKGFPLIFHG VRGSEAREGK SPSWFNPAEA
VQVLRYCCLL AHSISSQVSA SDIGVITPYR KQVEKIRILL RNVDLMDIKV GSVEEFQGQE
YLVIIISTVR SNEDRFEDDR YFLGFLSNSK RFNVAITRPK ALLIVLGNPH VLVRLWRGGG
RPLLPSGARI HRTREASGAQ LICSG*

mutated AA sequence

MSFLPVRSVI GGGDTKLKTV RGVVTRYCSD YGMIDDMIYF SSDAVTSRVL LNVGQEVIAV
VEENKVSNGL KAIRVEAVSD KWEDDSRNHG SPSDCGPRVL IGCVTSLVEG AGCISQTTYF
SLESVCEGFE PCKGDWVEAE YRIRPGTWSS EATSVKPLRY KRVDKVCISS LCGRNGVLEE
SIFFTLDSLK LPDGYTPRRG DVVNAVVVES SQSCYVWRAL CMTLVKRRDA APVHEATHFY
GTILLKNKGD IEVTQVTHFG TLKEGRSKTM VIWIENKGDI PQNLVSCKLA GWDKSKQFRF
QMLDKDQMCP VVSFVSVPEK ENSSDENINS LNSHTKNKTS QMSESSLVNN RGISPGDCTC
KGENGEKDNI LSRKQMTEPE PGGLVPPGGK TFIVVICDGK NPGRCKELLL LCFSDFLIGR
YLEVNVISGE ESLIAAREPF SWKKLKSSQA LTSAKTTVVV TAQKRNSRRQ LPSFLPQYPI
PDRLRKCVEQ KIDILTFQPL LAELLNMSNY KEKFSTLLWL EEIYAEMELK EYNMSGIILR
RNGDLLVLEV PGLAEGRPSL YAGDKLILKT QEYNGHAIEY ISYVTEIHEE DVTLKINPEF
EQAYNFEPMD VEFTYNRTTS RRCHFALEHV IHLGVKVLFP EEIILQSPQV TGNWNHAQDT
KSSGQSTSKK NRKTMTDQAE HGTEERRVGD KDLPVLAPFT AEMSDWVDEI QTPKARKMEF
FNPVLNENQK LAVKRILSGD CRPLPYILFG PPGTGKTVTI IEAVLQVHFA LPDSRILVCA
PSNSAADLVC LRLHESKVLR PATMVRVNAT CRFEEIVIDA VKPYCRDGED IWKASRFRII
ITTCSSSGLF YQIGVRVGHF THVFVDEAGQ ASEPECLIPL GLMSDISGQI VLAGDPMQLG
PVIKSRLAMA YGLNVSFLER LMSRPAYQRD ENAFGACGAH NPLLVTKLVK NYRSHEALLM
LPSRLFYHRE LEVCADPTVV TSLLGWEKLP KKGFPLIFHG VRGSEAREGK SPSWFNPAEA
VQVLRYCCLL AHSISSQVSA SDIGVITPYR KQVEKIRILL RNVDLMDIKV GSVEEFQGQE
YLVIIISTVR SNEDRFEDDR YFLGFLSNSK RFNVAITRPK ALLIVLGNPH VLVRLWRGGG
RPLLPSGARI HRTREASGAQ LICSG*

speed

0.50 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999993155273678 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

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)

chr22:50582626A>GN/A show variant in all transcripts IGV

HGNC symbol

MOV10L1

Ensembl transcript ID

ENST00000395843

Genbank transcript ID

N/A

UniProt peptide

Q9BXT6

alteration type

single base exchange

alteration region

5'UTR

DNA changes

cDNA.2461A>G
g.54319A>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs2272837

database	homozygous (G/G)	heterozygous	allele carriers
1000G	361	968	1329
ExAC	6239	20289	26528

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.645	0
	0.017	0
(flanking)	-0.33	0

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

splice sites

splice site change before start ATG (at aa -84) |

effect	gDNA position	score	detection sequence	exon-intron border
Donor increased	54313	wt: 0.27 / mu: 0.93	wt: CAAGGTGCTACAGCC mu: CAAGGTGCTACGGCC	AGGT\|gcta

distance from splice site

Kozak consensus sequence altered?

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
770	777	NP_BIND	ATP (Potential).	might get lost (downstream of altered splice site)
886	889	MOTIF	DEAG box.	might get lost (downstream of altered splice site)
1063	1063	CONFLICT	I -> V (in Ref. 2; BAA90895).	might get lost (downstream of altered splice site)
1096	1096	CONFLICT	F -> L (in Ref. 2; BAA90895).	might get lost (downstream of altered splice site)

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

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

N/A

position of stopcodon in wt / mu cDNA

N/A

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

2709 / 2709

chromosome

strand

last intron/exon boundary

2904

theoretical NMD boundary in CDS

145

length of CDS

378

coding sequence (CDS) position

N/A

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

2461

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

54319

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

50582626

original gDNA sequence snippet

GCACGAGAGCAAGGTGCTACAGCCGGCCACCATGGTCCGGG

altered gDNA sequence snippet

GCACGAGAGCAAGGTGCTACGGCCGGCCACCATGGTCCGGG

original cDNA sequence snippet

GCACGAGAGCAAGGTGCTACAGCCGGCCACCATGGTCCGGG

altered cDNA sequence snippet

GCACGAGAGCAAGGTGCTACGGCCGGCCACCATGGTCCGGG

wildtype AA sequence

MSDISGQVTK LVKNYRSHEA LLMLPSRLFY HRELEVCADP TVVTSLLGWE KLPKKGFPLI
FHGVRGSEAR EGKSPSWFNP AEAVQVLRYC CLLAHSISSQ VSASDIGVIT PYRKQVRPAQ
ARLVL*

mutated AA sequence

N/A

speed

0.66 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

Problems