MutationTaster - study a chromosomal position

NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 4 transcript(s)...
Querying Taster for transcript #1: ENST00000326639
Querying Taster for transcript #2: ENST00000264584
Querying Taster for transcript #3: ENST00000441387
Querying Taster for transcript #4: ENST00000354456
MT speed 3.55 s - this script 4.308682 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
LARP1B	polymorphism_automatic	0.017550609767498	simple_aae		affected		R601H	single base exchange	rs12645577		show file
LARP1B	polymorphism_automatic	0.017550609767498	simple_aae		affected		R79H	single base exchange	rs12645577		show file
LARP1B	polymorphism_automatic	0.017550609767498	simple_aae		affected		R660H	single base exchange	rs12645577		show file
LARP1B	polymorphism_automatic	0.017550609767498	simple_aae		affected		R660H	single base exchange	rs12645577		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.982449390232502 (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)

chr4:129100643G>AN/A show variant in all transcripts IGV

HGNC symbol

LARP1B

Ensembl transcript ID

ENST00000264584

Genbank transcript ID

N/A

UniProt peptide

Q659C4

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1802G>A
cDNA.1933G>A
g.118221G>A

AA changes

R601H Score: 29 explain score(s)

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

601

frameshift

known variant

Reference ID: rs12645577

database	homozygous (A/A)	heterozygous	allele carriers
1000G	885	1082	1967
ExAC	26108	-19449	6659

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.884	1
	2.591	0.998
(flanking)	-0.447	0.897

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 marginally increased	118214	wt: 0.7969 / mu: 0.7970 (marginal change - not scored)	wt: ATTCCAGAGACCGTG mu: ATTCCAGAGACCATG	TCCA\|gaga
Donor increased	118224	wt: 0.81 / mu: 0.93	wt: CCGTGGGCCAGGAAC mu: CCATGGGCCAGGAAC	GTGG\|gcca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

601

mutated

not conserved

601

Ptroglodytes

no homologue

Mmulatta

not conserved

ENSMMUG00000021347

659

Fcatus

no homologue

Mmusculus

no alignment

ENSMUSG00000037814

n/a

Ggallus

not conserved

ENSGALG00000010207

594

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

not conserved

FBgn0261618

1295

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000022512

734

protein features

start (aa)	end (aa)	feature	details
639	639	CONFLICT	T -> A (in Ref. 2; CAD97908).	might get lost (downstream of altered splice site)
671	671	CONFLICT	N -> S (in Ref. 4; AAH62606).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2568 / 2568

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

856 / 856

position of stopcodon in wt / mu cDNA

2699 / 2699

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

132 / 132

chromosome

strand

last intron/exon boundary

2502

theoretical NMD boundary in CDS

2320

length of CDS

2568

coding sequence (CDS) position

1802

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

1933

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

118221

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

129100643

original gDNA sequence snippet

GGTAATGGATTCCAGAGACCGTGGGCCAGGAACATCCTCTG

altered gDNA sequence snippet

GGTAATGGATTCCAGAGACCATGGGCCAGGAACATCCTCTG

original cDNA sequence snippet

GGTAATGGATTCCAGAGACCGTGGGCCAGGAACATCCTCTG

altered cDNA sequence snippet

GGTAATGGATTCCAGAGACCATGGGCCAGGAACATCCTCTG

wildtype AA sequence

MENWPTPSEL VNTGFQSVLS QGNKKPQNRK EKEEKVEKRS NSDSKENRET KLNGPGENVS
EDEAQSSNQR KRGWKRDREK RDDQDDVSSV RSEGGNIRGS FRGRGRGRGR GRGRGRGNPR
LNFDYSYGYQ EHGERTDQPF QTELNTSMMY YYDDGTGVQV YPVEEALLKE YIKRQIEYYF
SVENLERDFF LRGKMDEQGF LPISLIAGFQ RVQALTTNLN LILEALKDST EVEIVDEKMR
KKIEPEKWPI PGPPPRSVPP TDFSQLIDCP EFVPGQAFCS HTESAPNSPR IGSPLSPKKN
SETSILQAMS RGLSTSLPDL DSEPWIEVKK RHQPAPVKLR ESVSVPEGSL NQLCSSEEPE
QEELDFLFDE EIEQIGRKNT FTDWSDNDSD YEIDDQDLNK ILIVTQTPPY VKKHPGGDRT
GTHMSRAKIT SELAKVINDG LYYYEQDLWM EEDENKHTAI KQEVENFKKL NLISKEQFEN
LTPELPFEPN QEVPVAPSQS RQDLTDELAQ KLFDVSEITS AAMVHSLPTA VPESPRIHPT
RTPKTPRTPR LQDPNKTPRF YPVVKEPKAI DVKSPRKRKT RHSTNPPLEC HVGWVMDSRD
RGPGTSSVST SNASPSEGAP LAGSYGCTPH SFPKFQHPSH ELLKENGFTQ QVYHKYRRRC
LSERKRLGIG QSQEMNTLFR FWSFFLRDHF NKKMYEEFRQ LAWEDAKENY RYGLECLFRF
YSYGLEKKFR REIFQDFQEE TKKDYESGQL YGLEKFWAYL KYSQSKTQSI DPKLQEYLCS
FKRLEDFRVD PPISDEFGRK RHSSTSGEES NRHRLPPNSS TKPPNAAKPT STSELQVPIN
SPRRNISPES SDNSH*

mutated AA sequence

MENWPTPSEL VNTGFQSVLS QGNKKPQNRK EKEEKVEKRS NSDSKENRET KLNGPGENVS
EDEAQSSNQR KRGWKRDREK RDDQDDVSSV RSEGGNIRGS FRGRGRGRGR GRGRGRGNPR
LNFDYSYGYQ EHGERTDQPF QTELNTSMMY YYDDGTGVQV YPVEEALLKE YIKRQIEYYF
SVENLERDFF LRGKMDEQGF LPISLIAGFQ RVQALTTNLN LILEALKDST EVEIVDEKMR
KKIEPEKWPI PGPPPRSVPP TDFSQLIDCP EFVPGQAFCS HTESAPNSPR IGSPLSPKKN
SETSILQAMS RGLSTSLPDL DSEPWIEVKK RHQPAPVKLR ESVSVPEGSL NQLCSSEEPE
QEELDFLFDE EIEQIGRKNT FTDWSDNDSD YEIDDQDLNK ILIVTQTPPY VKKHPGGDRT
GTHMSRAKIT SELAKVINDG LYYYEQDLWM EEDENKHTAI KQEVENFKKL NLISKEQFEN
LTPELPFEPN QEVPVAPSQS RQDLTDELAQ KLFDVSEITS AAMVHSLPTA VPESPRIHPT
RTPKTPRTPR LQDPNKTPRF YPVVKEPKAI DVKSPRKRKT RHSTNPPLEC HVGWVMDSRD
HGPGTSSVST SNASPSEGAP LAGSYGCTPH SFPKFQHPSH ELLKENGFTQ QVYHKYRRRC
LSERKRLGIG QSQEMNTLFR FWSFFLRDHF NKKMYEEFRQ LAWEDAKENY RYGLECLFRF
YSYGLEKKFR REIFQDFQEE TKKDYESGQL YGLEKFWAYL KYSQSKTQSI DPKLQEYLCS
FKRLEDFRVD PPISDEFGRK RHSSTSGEES NRHRLPPNSS TKPPNAAKPT STSELQVPIN
SPRRNISPES SDNSH*

speed

0.62 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: 0.982449390232502 (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)

chr4:129100643G>AN/A show variant in all transcripts IGV

HGNC symbol

LARP1B

Ensembl transcript ID

ENST00000354456

Genbank transcript ID

N/A

UniProt peptide

Q659C4

alteration type

single base exchange

alteration region

CDS

DNA changes

c.236G>A
cDNA.2110G>A
g.118221G>A

AA changes

R79H Score: 29 explain score(s)

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

frameshift

known variant

Reference ID: rs12645577

database	homozygous (A/A)	heterozygous	allele carriers
1000G	885	1082	1967
ExAC	26108	-19449	6659

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.884	1
	2.591	0.998
(flanking)	-0.447	0.897

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 marginally increased	118214	wt: 0.7969 / mu: 0.7970 (marginal change - not scored)	wt: ATTCCAGAGACCGTG mu: ATTCCAGAGACCATG	TCCA\|gaga
Donor increased	118224	wt: 0.81 / mu: 0.93	wt: CCGTGGGCCAGGAAC mu: CCATGGGCCAGGAAC	GTGG\|gcca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

no homologue

Mmulatta

not conserved

ENSMMUG00000021347

659

Fcatus

no homologue

Mmusculus

no alignment

ENSMUSG00000037814

n/a

Ggallus

not conserved

ENSGALG00000010207

594

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

not conserved

FBgn0261618

1296

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000022512

734

protein features

start (aa)	end (aa)	feature	details
114	167	COMPBIAS	Arg-rich.	might get lost (downstream of altered splice site)
209	299	DOMAIN	HTH La-type RNA-binding.	might get lost (downstream of altered splice site)
272	272	CONFLICT	A -> V (in Ref. 1; BAC03970).	might get lost (downstream of altered splice site)
289	289	CONFLICT	K -> E (in Ref. 1; BAA91576).	might get lost (downstream of altered splice site)
291	291	CONFLICT	E -> T (in Ref. 1; BAC05306).	might get lost (downstream of altered splice site)
340	340	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
343	343	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
363	363	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
432	432	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
454	454	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
473	473	CONFLICT	R -> Q (in Ref. 1; BAC03970).	might get lost (downstream of altered splice site)
639	639	CONFLICT	T -> A (in Ref. 2; CAD97908).	might get lost (downstream of altered splice site)
671	671	CONFLICT	N -> S (in Ref. 4; AAH62606).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

846 / 846

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

282 / 282

position of stopcodon in wt / mu cDNA

2720 / 2720

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

1875 / 1875

chromosome

strand

last intron/exon boundary

2679

theoretical NMD boundary in CDS

754

length of CDS

846

coding sequence (CDS) position

236

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

2110

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

118221

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

129100643

original gDNA sequence snippet

GGTAATGGATTCCAGAGACCGTGGGCCAGGAACATCCTCTG

altered gDNA sequence snippet

GGTAATGGATTCCAGAGACCATGGGCCAGGAACATCCTCTG

original cDNA sequence snippet

GGTAATGGATTCCAGAGACCGTGGGCCAGGAACATCCTCTG

altered cDNA sequence snippet

GGTAATGGATTCCAGAGACCATGGGCCAGGAACATCCTCTG

wildtype AA sequence

MVHSLPTAVP ESPRIHPTRT PKTPRTPRLQ DPNKTPRFYP VVKEPKAIDV KSPRKRKTRH
STNPPLECHV GWVMDSRDRG PGTSSVSTSN ASPSEGAPLA GSYGCTPHSF PKFQHPSHEL
LKENGFTQQV YHKYRRRCLS ERKRLGIGQS QEMNTLFRFW SFFLRDHFNK KMYEEFRQLA
WEDAKENYRY GLECLFRFYS YGLEKKFRRE IFQDFQEETK KDYESGQLYG LEKFWAYLKY
SQSKTQSIDP KLQEYLCSFK RLEDFRVDNH HDRLLLLIIN I*

mutated AA sequence

MVHSLPTAVP ESPRIHPTRT PKTPRTPRLQ DPNKTPRFYP VVKEPKAIDV KSPRKRKTRH
STNPPLECHV GWVMDSRDHG PGTSSVSTSN ASPSEGAPLA GSYGCTPHSF PKFQHPSHEL
LKENGFTQQV YHKYRRRCLS ERKRLGIGQS QEMNTLFRFW SFFLRDHFNK KMYEEFRQLA
WEDAKENYRY GLECLFRFYS YGLEKKFRRE IFQDFQEETK KDYESGQLYG LEKFWAYLKY
SQSKTQSIDP KLQEYLCSFK RLEDFRVDNH HDRLLLLIIN I*

speed

0.70 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.982449390232502 (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)

chr4:129100643G>AN/A show variant in all transcripts IGV

HGNC symbol

LARP1B

Ensembl transcript ID

ENST00000441387

Genbank transcript ID

N/A

UniProt peptide

Q659C4

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1979G>A
cDNA.2110G>A
g.118221G>A

AA changes

R660H Score: 29 explain score(s)

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

660

frameshift

known variant

Reference ID: rs12645577

database	homozygous (A/A)	heterozygous	allele carriers
1000G	885	1082	1967
ExAC	26108	-19449	6659

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.884	1
	2.591	0.998
(flanking)	-0.447	0.897

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 marginally increased	118214	wt: 0.7969 / mu: 0.7970 (marginal change - not scored)	wt: ATTCCAGAGACCGTG mu: ATTCCAGAGACCATG	TCCA\|gaga
Donor increased	118224	wt: 0.81 / mu: 0.93	wt: CCGTGGGCCAGGAAC mu: CCATGGGCCAGGAAC	GTGG\|gcca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

660

mutated

not conserved

660

Ptroglodytes

no homologue

Mmulatta

not conserved

ENSMMUG00000021347

659

Fcatus

no homologue

Mmusculus

no alignment

ENSMUSG00000037814

n/a

Ggallus

not conserved

ENSGALG00000010207

594

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

not conserved

FBgn0261618

1314

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000022512

734

protein features

start (aa)	end (aa)	feature	details
671	671	CONFLICT	N -> S (in Ref. 4; AAH62606).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2364 / 2364

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

788 / 788

position of stopcodon in wt / mu cDNA

2495 / 2495

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

132 / 132

chromosome

strand

last intron/exon boundary

2569

theoretical NMD boundary in CDS

2387

length of CDS

2364

coding sequence (CDS) position

1979

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

2110

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

118221

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

129100643

original gDNA sequence snippet

GGTAATGGATTCCAGAGACCGTGGGCCAGGAACATCCTCTG

altered gDNA sequence snippet

GGTAATGGATTCCAGAGACCATGGGCCAGGAACATCCTCTG

original cDNA sequence snippet

GGTAATGGATTCCAGAGACCGTGGGCCAGGAACATCCTCTG

altered cDNA sequence snippet

GGTAATGGATTCCAGAGACCATGGGCCAGGAACATCCTCTG

wildtype AA sequence

MENWPTPSEL VNTGFQSVLS QGNKKPQNRK EKEEKVEKRS NSDSKENRET KLNGPGENVS
EDEAQSSNQR KRANKHKWVP LHLDVVRSES QERPGSRNSS RCQPEANKPT HNNRRNDTRS
WKRDREKRDD QDDVSSVRSE GGNIRGSFRG RGRGRGRGRG RGRGNPRLNF DYSYGYQEHG
ERTDQPFQTE LNTSMMYYYD DGTGVQVYPV EEALLKEYIK RQIEYYFSVE NLERDFFLRG
KMDEQGFLPI SLIAGFQRVQ ALTTNLNLIL EALKDSTEVE IVDEKMRKKI EPEKWPIPGP
PPRSVPPTDF SQLIDCPEFV PGQAFCSHTE SAPNSPRIGS PLSPKKNSET SILQAMSRGL
STSLPDLDSE PWIEVKKRHQ PAPVKLRESV SVPEGSLNQL CSSEEPEQEE LDFLFDEEIE
QIGRKNTFTD WSDNDSDYEI DDQDLNKILI VTQTPPYVKK HPGGDRTGTH MSRAKITSEL
AKVINDGLYY YEQDLWMEED ENKHTAIKQE VENFKKLNLI SKEQFENLTP ELPFEPNQEV
PVAPSQSRQG GVQGVLHIPK KDLTDELAQK LFDVSEITSA AMVHSLPTAV PESPRIHPTR
TPKTPRTPRL QDPNKTPRFY PVVKEPKAID VKSPRKRKTR HSTNPPLECH VGWVMDSRDR
GPGTSSVSTS NASPSEGAPL AGSYGCTPHS FPKFQHPSHE LLKENGFTQQ VYHKYRRRCL
SERKRLGIGQ SQEMNTLFRF WSFFLRDHFN KKMYEEFRQL AWEDAKENYR SAVWTRKVLG
LFEIFSI*

mutated AA sequence

MENWPTPSEL VNTGFQSVLS QGNKKPQNRK EKEEKVEKRS NSDSKENRET KLNGPGENVS
EDEAQSSNQR KRANKHKWVP LHLDVVRSES QERPGSRNSS RCQPEANKPT HNNRRNDTRS
WKRDREKRDD QDDVSSVRSE GGNIRGSFRG RGRGRGRGRG RGRGNPRLNF DYSYGYQEHG
ERTDQPFQTE LNTSMMYYYD DGTGVQVYPV EEALLKEYIK RQIEYYFSVE NLERDFFLRG
KMDEQGFLPI SLIAGFQRVQ ALTTNLNLIL EALKDSTEVE IVDEKMRKKI EPEKWPIPGP
PPRSVPPTDF SQLIDCPEFV PGQAFCSHTE SAPNSPRIGS PLSPKKNSET SILQAMSRGL
STSLPDLDSE PWIEVKKRHQ PAPVKLRESV SVPEGSLNQL CSSEEPEQEE LDFLFDEEIE
QIGRKNTFTD WSDNDSDYEI DDQDLNKILI VTQTPPYVKK HPGGDRTGTH MSRAKITSEL
AKVINDGLYY YEQDLWMEED ENKHTAIKQE VENFKKLNLI SKEQFENLTP ELPFEPNQEV
PVAPSQSRQG GVQGVLHIPK KDLTDELAQK LFDVSEITSA AMVHSLPTAV PESPRIHPTR
TPKTPRTPRL QDPNKTPRFY PVVKEPKAID VKSPRKRKTR HSTNPPLECH VGWVMDSRDH
GPGTSSVSTS NASPSEGAPL AGSYGCTPHS FPKFQHPSHE LLKENGFTQQ VYHKYRRRCL
SERKRLGIGQ SQEMNTLFRF WSFFLRDHFN KKMYEEFRQL AWEDAKENYR SAVWTRKVLG
LFEIFSI*

speed

1.17 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.982449390232502 (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)

chr4:129100643G>AN/A show variant in all transcripts IGV

HGNC symbol

LARP1B

Ensembl transcript ID

ENST00000326639

Genbank transcript ID

NM_018078

UniProt peptide

Q659C4

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1979G>A
cDNA.2190G>A
g.118221G>A

AA changes

R660H Score: 29 explain score(s)

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

660

frameshift

known variant

Reference ID: rs12645577

database	homozygous (A/A)	heterozygous	allele carriers
1000G	885	1082	1967
ExAC	26108	-19449	6659

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.884	1
	2.591	0.998
(flanking)	-0.447	0.897

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 marginally increased	118214	wt: 0.7969 / mu: 0.7970 (marginal change - not scored)	wt: ATTCCAGAGACCGTG mu: ATTCCAGAGACCATG	TCCA\|gaga
Donor increased	118224	wt: 0.81 / mu: 0.93	wt: CCGTGGGCCAGGAAC mu: CCATGGGCCAGGAAC	GTGG\|gcca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

660

mutated

not conserved

660

Ptroglodytes

no homologue

Mmulatta

not conserved

ENSMMUG00000021347

659

Fcatus

no homologue

Mmusculus

no alignment

ENSMUSG00000037814

n/a

Ggallus

not conserved

ENSGALG00000010207

594

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

not conserved

FBgn0261618

1296

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000022512

734

protein features

start (aa)	end (aa)	feature	details
671	671	CONFLICT	N -> S (in Ref. 4; AAH62606).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2745 / 2745

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

915 / 915

position of stopcodon in wt / mu cDNA

2956 / 2956

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

212 / 212

chromosome

strand

last intron/exon boundary

2759

theoretical NMD boundary in CDS

2497

length of CDS

2745

coding sequence (CDS) position

1979

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

2190

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

118221

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

129100643

original gDNA sequence snippet

GGTAATGGATTCCAGAGACCGTGGGCCAGGAACATCCTCTG

altered gDNA sequence snippet

GGTAATGGATTCCAGAGACCATGGGCCAGGAACATCCTCTG

original cDNA sequence snippet

GGTAATGGATTCCAGAGACCGTGGGCCAGGAACATCCTCTG

altered cDNA sequence snippet

GGTAATGGATTCCAGAGACCATGGGCCAGGAACATCCTCTG

wildtype AA sequence

mutated AA sequence

MENWPTPSEL VNTGFQSVLS QGNKKPQNRK EKEEKVEKRS NSDSKENRET KLNGPGENVS
EDEAQSSNQR KRANKHKWVP LHLDVVRSES QERPGSRNSS RCQPEANKPT HNNRRNDTRS
WKRDREKRDD QDDVSSVRSE GGNIRGSFRG RGRGRGRGRG RGRGNPRLNF DYSYGYQEHG
ERTDQPFQTE LNTSMMYYYD DGTGVQVYPV EEALLKEYIK RQIEYYFSVE NLERDFFLRG
KMDEQGFLPI SLIAGFQRVQ ALTTNLNLIL EALKDSTEVE IVDEKMRKKI EPEKWPIPGP
PPRSVPPTDF SQLIDCPEFV PGQAFCSHTE SAPNSPRIGS PLSPKKNSET SILQAMSRGL
STSLPDLDSE PWIEVKKRHQ PAPVKLRESV SVPEGSLNQL CSSEEPEQEE LDFLFDEEIE
QIGRKNTFTD WSDNDSDYEI DDQDLNKILI VTQTPPYVKK HPGGDRTGTH MSRAKITSEL
AKVINDGLYY YEQDLWMEED ENKHTAIKQE VENFKKLNLI SKEQFENLTP ELPFEPNQEV
PVAPSQSRQG GVQGVLHIPK KDLTDELAQK LFDVSEITSA AMVHSLPTAV PESPRIHPTR
TPKTPRTPRL QDPNKTPRFY PVVKEPKAID VKSPRKRKTR HSTNPPLECH VGWVMDSRDH
GPGTSSVSTS NASPSEGAPL AGSYGCTPHS FPKFQHPSHE LLKENGFTQQ VYHKYRRRCL
SERKRLGIGQ SQEMNTLFRF WSFFLRDHFN KKMYEEFRQL AWEDAKENYR YGLECLFRFY
SYGLEKKFRR EIFQDFQEET KKDYESGQLY GLEKFWAYLK YSQSKTQSID PKLQEYLCSF
KRLEDFRVDP PISDEFGRKR HSSTSGEESN RHRLPPNSST KPPNAAKPTS TSELQVPINS
PRRNISPESS DNSH*

speed

1.06 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems