MutationTaster - study a chromosomal position

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input seems to be ok - now mapping the variant to the different transcripts...
found 2 transcript(s)...
Querying Taster for transcript #1: ENST00000275159
Querying Taster for transcript #2: ENST00000398212
MT speed 0 s - this script 3.795874 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
TBC1D32	polymorphism_automatic	0.00288401231331903	simple_aae				I599V	single base exchange	rs7745023		show file
TBC1D32	polymorphism_automatic	0.00288401231331903	simple_aae				I599V	single base exchange	rs7745023		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.997115987686681 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr6:121577370T>CN/A show variant in all transcripts IGV

HGNC symbol

TBC1D32

Ensembl transcript ID

ENST00000275159

Genbank transcript ID

N/A

UniProt peptide

Q96NH3

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1795A>G
cDNA.1795A>G
g.78522A>G

AA changes

I599V Score: 29 explain score(s)

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

599

frameshift

known variant

Reference ID: rs7745023

database	homozygous (C/C)	heterozygous	allele carriers
1000G	283	740	1023
ExAC	14018	4731	18749

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.625	0.945
	0.153	0.941
(flanking)	0.369	0.957

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 marginally increased	78532	wt: 0.9616 / mu: 0.9637 (marginal change - not scored)	wt: AGATATTTCTATATTTTCTGGATCAGAAATGTTGCCTGTGG mu: AGATATTTCTGTATTTTCTGGATCAGAAATGTTGCCTGTGG	ctgg\|ATCA
Acc marginally increased	78530	wt: 0.9041 / mu: 0.9224 (marginal change - not scored)	wt: GAAGATATTTCTATATTTTCTGGATCAGAAATGTTGCCTGT mu: GAAGATATTTCTGTATTTTCTGGATCAGAAATGTTGCCTGT	ttct\|GGAT
Acc marginally increased	78531	wt: 0.7736 / mu: 0.8365 (marginal change - not scored)	wt: AAGATATTTCTATATTTTCTGGATCAGAAATGTTGCCTGTG mu: AAGATATTTCTGTATTTTCTGGATCAGAAATGTTGCCTGTG	tctg\|GATC

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

599

mutated

all conserved

599

Ptroglodytes

all identical

ENSPTRG00000018559

599

Mmulatta

all identical

ENSMMUG00000017715

586

Fcatus

no alignment

ENSFCAG00000014651

n/a

Mmusculus

all identical

ENSMUSG00000038122

596

Ggallus

all conserved

ENSGALG00000014876

492

Trubripes

no alignment

ENSTRUG00000002948

n/a

Drerio

all conserved

ENSDARG00000041734

607

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no alignment

ENSXETG00000032074

n/a

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3897 / 3897

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

1299 / 1299

position of stopcodon in wt / mu cDNA

3897 / 3897

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

1 / 1

chromosome

strand

-1

last intron/exon boundary

3778

theoretical NMD boundary in CDS

3727

length of CDS

3897

coding sequence (CDS) position

1795

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

1795

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

78522

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

121577370

original gDNA sequence snippet

TTCTCGATGAAGATATTTCTATATTTTCTGGATCAGAAATG

altered gDNA sequence snippet

TTCTCGATGAAGATATTTCTGTATTTTCTGGATCAGAAATG

original cDNA sequence snippet

TTCTCGATGAAGATATTTCTATATTTTCTGGATCAGAAATG

altered cDNA sequence snippet

TTCTCGATGAAGATATTTCTGTATTTTCTGGATCAGAAATG

wildtype AA sequence

MAHFSSEDQA MLQAMLRRLF QSVKEKITGA PSLECAEEIL LHLEETDENF HNYEFVKYLR
QHIGNTLGSM IEEEMEKCTS DRNQGEECGY DTVVQQVTKR TQESKEYKEM MHYLKNIMIA
VVESMINKFE EDETRNQERQ KKIQKEKSHS YRTDNCSDSD SSLNQSYKFC QGKLQLILDQ
LDPGQPKEVR YEALQTLCSA PPSDVLNCEN WTTLCEKLTV SLSDPDPVFS DRILKFCAQT
FLLSPLHMTK EIYTSLAKYL ESYFLSRENH IPTLSAGVDI TNPNMTRLLK KVRLLNEYQK
EAPSFWIRHP EKYMEEIVES TLSLLTVKHN QSHVVSQKIL DPIYFFALVD TKAVWFKKWM
HAHYSRTTVL RLLETKYKSL VTTAIQQCVQ YFEMCKTRKA DETLGHSKHC RNKQKTFYYL
GQELQYIYFI HSLCLLGRLL IYKQGRKLFP IKLKNKKGLV SLIDLLVLFT QLIYYSPSCP
KMTSAAHSEN YSPASMVTEV LWILSDQKEC AVECLYNNIV IETLLQPIHN LMKGNEASPN
CSETALIHIA GILARIASVE EGLILLLYGA NMNSSEESPT GAHIIAQFSK KLLDEDISIF
SGSEMLPVVK GAFISVCRHI YSTCEGLQVL ITYNLHESIA KAWKKTSLLS ERIPTPVEGS
DSVSSVSQES QNIMAWEDNL LDDLLHFAAT PKGLLLLQRT GAINECVTFI FNRYAKKLQV
SRHKKFGYGV LVTRVASTAA GGIALKKSGF INELITELWS NLEYGRDDVR VTHPRTTPVD
PIDRSCQKSF LALVNLLSYP AIYELVRNQD LPNKTEYSLR EVPTCVIDII DRLIILNSEA
KIRSLFNYEQ SHIFGLRLLS VICCDLDTLL LLEAQYQVSE MLLNAQEENI LEISESHRDF
IIDGLSVERN HVLVRINLVG GPLERILPPR LLEKSDNPYP WPMFSSYPLP NCYLSDITRN
AGIKQDNDLD KLLLCLKISD KQTEWIENCQ RQFCKMMKAK PDIISGEALI ELLEKFVLHL
TESPSECYFP SVEYTATDAN VKNESLSSVQ QLGIKMTVRY GKFLSLLKDG AENDLTWVLK
HCERFLKQQQ TSIKSSLLCL QGNYAGHDWF VSSLFMIMLG DKEKTFQFLH QFSRLLTSAF
LWLPRLHISS YLPNDTVESG IHPVYFCSTH YIEMLLKAEL PLVFSAFHMS GFAPSQICLQ
WITQCFWNYL DWIEICHYIA TCVFLGPDYQ VYICIAVFKH LQQDILQHTQ TQDLQVFLKE
EALHGFRVSD YFEYMEILEQ NYRTVLLRDM RNIRLQST*

mutated AA sequence

MAHFSSEDQA MLQAMLRRLF QSVKEKITGA PSLECAEEIL LHLEETDENF HNYEFVKYLR
QHIGNTLGSM IEEEMEKCTS DRNQGEECGY DTVVQQVTKR TQESKEYKEM MHYLKNIMIA
VVESMINKFE EDETRNQERQ KKIQKEKSHS YRTDNCSDSD SSLNQSYKFC QGKLQLILDQ
LDPGQPKEVR YEALQTLCSA PPSDVLNCEN WTTLCEKLTV SLSDPDPVFS DRILKFCAQT
FLLSPLHMTK EIYTSLAKYL ESYFLSRENH IPTLSAGVDI TNPNMTRLLK KVRLLNEYQK
EAPSFWIRHP EKYMEEIVES TLSLLTVKHN QSHVVSQKIL DPIYFFALVD TKAVWFKKWM
HAHYSRTTVL RLLETKYKSL VTTAIQQCVQ YFEMCKTRKA DETLGHSKHC RNKQKTFYYL
GQELQYIYFI HSLCLLGRLL IYKQGRKLFP IKLKNKKGLV SLIDLLVLFT QLIYYSPSCP
KMTSAAHSEN YSPASMVTEV LWILSDQKEC AVECLYNNIV IETLLQPIHN LMKGNEASPN
CSETALIHIA GILARIASVE EGLILLLYGA NMNSSEESPT GAHIIAQFSK KLLDEDISVF
SGSEMLPVVK GAFISVCRHI YSTCEGLQVL ITYNLHESIA KAWKKTSLLS ERIPTPVEGS
DSVSSVSQES QNIMAWEDNL LDDLLHFAAT PKGLLLLQRT GAINECVTFI FNRYAKKLQV
SRHKKFGYGV LVTRVASTAA GGIALKKSGF INELITELWS NLEYGRDDVR VTHPRTTPVD
PIDRSCQKSF LALVNLLSYP AIYELVRNQD LPNKTEYSLR EVPTCVIDII DRLIILNSEA
KIRSLFNYEQ SHIFGLRLLS VICCDLDTLL LLEAQYQVSE MLLNAQEENI LEISESHRDF
IIDGLSVERN HVLVRINLVG GPLERILPPR LLEKSDNPYP WPMFSSYPLP NCYLSDITRN
AGIKQDNDLD KLLLCLKISD KQTEWIENCQ RQFCKMMKAK PDIISGEALI ELLEKFVLHL
TESPSECYFP SVEYTATDAN VKNESLSSVQ QLGIKMTVRY GKFLSLLKDG AENDLTWVLK
HCERFLKQQQ TSIKSSLLCL QGNYAGHDWF VSSLFMIMLG DKEKTFQFLH QFSRLLTSAF
LWLPRLHISS YLPNDTVESG IHPVYFCSTH YIEMLLKAEL PLVFSAFHMS GFAPSQICLQ
WITQCFWNYL DWIEICHYIA TCVFLGPDYQ VYICIAVFKH LQQDILQHTQ TQDLQVFLKE
EALHGFRVSD YFEYMEILEQ NYRTVLLRDM RNIRLQST*

speed

0.47 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: 0.997115987686681 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr6:121577370T>CN/A show variant in all transcripts IGV

HGNC symbol

TBC1D32

Ensembl transcript ID

ENST00000398212

Genbank transcript ID

NM_152730

UniProt peptide

Q96NH3

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1795A>G
cDNA.1845A>G
g.78522A>G

AA changes

I599V Score: 29 explain score(s)

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

599

frameshift

known variant

Reference ID: rs7745023

database	homozygous (C/C)	heterozygous	allele carriers
1000G	283	740	1023
ExAC	14018	4731	18749

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.625	0.945
	0.153	0.941
(flanking)	0.369	0.957

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 marginally increased	78532	wt: 0.9616 / mu: 0.9637 (marginal change - not scored)	wt: AGATATTTCTATATTTTCTGGATCAGAAATGTTGCCTGTGG mu: AGATATTTCTGTATTTTCTGGATCAGAAATGTTGCCTGTGG	ctgg\|ATCA
Acc marginally increased	78530	wt: 0.9041 / mu: 0.9224 (marginal change - not scored)	wt: GAAGATATTTCTATATTTTCTGGATCAGAAATGTTGCCTGT mu: GAAGATATTTCTGTATTTTCTGGATCAGAAATGTTGCCTGT	ttct\|GGAT
Acc marginally increased	78531	wt: 0.7736 / mu: 0.8365 (marginal change - not scored)	wt: AAGATATTTCTATATTTTCTGGATCAGAAATGTTGCCTGTG mu: AAGATATTTCTGTATTTTCTGGATCAGAAATGTTGCCTGTG	tctg\|GATC

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

599

mutated

all conserved

599

Ptroglodytes

all identical

ENSPTRG00000018559

599

Mmulatta

all identical

ENSMMUG00000017715

586

Fcatus

no alignment

ENSFCAG00000014651

n/a

Mmusculus

all identical

ENSMUSG00000038122

596

Ggallus

all conserved

ENSGALG00000014876

492

Trubripes

no alignment

ENSTRUG00000002948

n/a

Drerio

all conserved

ENSDARG00000041734

607

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no alignment

ENSXETG00000032074

n/a

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3774 / 3774

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

1258 / 1258

position of stopcodon in wt / mu cDNA

3824 / 3824

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

51 / 51

chromosome

strand

-1

last intron/exon boundary

3705

theoretical NMD boundary in CDS

3604

length of CDS

3774

coding sequence (CDS) position

1795

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

1845

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

78522

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

121577370

original gDNA sequence snippet

TTCTCGATGAAGATATTTCTATATTTTCTGGATCAGAAATG

altered gDNA sequence snippet

TTCTCGATGAAGATATTTCTGTATTTTCTGGATCAGAAATG

original cDNA sequence snippet

TTCTCGATGAAGATATTTCTATATTTTCTGGATCAGAAATG

altered cDNA sequence snippet

TTCTCGATGAAGATATTTCTGTATTTTCTGGATCAGAAATG

wildtype AA sequence

MAHFSSEDQA MLQAMLRRLF QSVKEKITGA PSLECAEEIL LHLEETDENF HNYEFVKYLR
QHIGNTLGSM IEEEMEKCTS DRNQGEECGY DTVVQQVTKR TQESKEYKEM MHYLKNIMIA
VVESMINKFE EDETRNQERQ KKIQKEKSHS YRTDNCSDSD SSLNQSYKFC QGKLQLILDQ
LDPGQPKEVR YEALQTLCSA PPSDVLNCEN WTTLCEKLTV SLSDPDPVFS DRILKFCAQT
FLLSPLHMTK EIYTSLAKYL ESYFLSRENH IPTLSAGVDI TNPNMTRLLK KVRLLNEYQK
EAPSFWIRHP EKYMEEIVES TLSLLTVKHN QSHVVSQKIL DPIYFFALVD TKAVWFKKWM
HAHYSRTTVL RLLETKYKSL VTTAIQQCVQ YFEMCKTRKA DETLGHSKHC RNKQKTFYYL
GQELQYIYFI HSLCLLGRLL IYKQGRKLFP IKLKNKKGLV SLIDLLVLFT QLIYYSPSCP
KMTSAAHSEN YSPASMVTEV LWILSDQKEC AVECLYNNIV IETLLQPIHN LMKGNEASPN
CSETALIHIA GILARIASVE EGLILLLYGA NMNSSEESPT GAHIIAQFSK KLLDEDISIF
SGSEMLPVVK GAFISVCRHI YSTCEGLQVL ITYNLHESIA KAWKKTSLLS ERIPTPVEGS
DSVSSVSQES QNIMAWEDNL LDDLLHFAAT PKGLLLLQRT GAINECVTFI FNRYAKKLQV
SRHKKFGYGV LVTRVASTAA GGIALKKSGF INELITELWS NLEYGRDDVR VTHPRTTPVD
PIDRSCQKSF LALVNLLSYP AIYELVRNQD LPNKTEYSLR EVPTCVIDII DRLIILNSEA
KIRSLFNYEQ SHIFGLRDFI IDGLSVERNH VLVRINLVGG PLERILPPRL LEKSDNPYPW
PMFSSYPLPN CYLSDITRNA GIKQDNDLDK LLLCLKISDK QTEWIENCQR QFCKMMKAKP
DIISGEALIE LLEKFVLHLT ESPSECYFPS VEYTATDANV KNESLSSVQQ LGIKMTVRYG
KFLSLLKDGA ENDLTWVLKH CERFLKQQQT SIKSSLLCLQ GNYAGHDWFV SSLFMIMLGD
KEKTFQFLHQ FSRLLTSAFL WLPRLHISSY LPNDTVESGI HPVYFCSTHY IEMLLKAELP
LVFSAFHMSG FAPSQICLQW ITQCFWNYLD WIEICHYIAT CVFLGPDYQV YICIAVFKHL
QQDILQHTQT QDLQVFLKEE ALHGFRVSDY FEYMEILEQN YRTVLLRDMR NIRLQST*

mutated AA sequence

MAHFSSEDQA MLQAMLRRLF QSVKEKITGA PSLECAEEIL LHLEETDENF HNYEFVKYLR
QHIGNTLGSM IEEEMEKCTS DRNQGEECGY DTVVQQVTKR TQESKEYKEM MHYLKNIMIA
VVESMINKFE EDETRNQERQ KKIQKEKSHS YRTDNCSDSD SSLNQSYKFC QGKLQLILDQ
LDPGQPKEVR YEALQTLCSA PPSDVLNCEN WTTLCEKLTV SLSDPDPVFS DRILKFCAQT
FLLSPLHMTK EIYTSLAKYL ESYFLSRENH IPTLSAGVDI TNPNMTRLLK KVRLLNEYQK
EAPSFWIRHP EKYMEEIVES TLSLLTVKHN QSHVVSQKIL DPIYFFALVD TKAVWFKKWM
HAHYSRTTVL RLLETKYKSL VTTAIQQCVQ YFEMCKTRKA DETLGHSKHC RNKQKTFYYL
GQELQYIYFI HSLCLLGRLL IYKQGRKLFP IKLKNKKGLV SLIDLLVLFT QLIYYSPSCP
KMTSAAHSEN YSPASMVTEV LWILSDQKEC AVECLYNNIV IETLLQPIHN LMKGNEASPN
CSETALIHIA GILARIASVE EGLILLLYGA NMNSSEESPT GAHIIAQFSK KLLDEDISVF
SGSEMLPVVK GAFISVCRHI YSTCEGLQVL ITYNLHESIA KAWKKTSLLS ERIPTPVEGS
DSVSSVSQES QNIMAWEDNL LDDLLHFAAT PKGLLLLQRT GAINECVTFI FNRYAKKLQV
SRHKKFGYGV LVTRVASTAA GGIALKKSGF INELITELWS NLEYGRDDVR VTHPRTTPVD
PIDRSCQKSF LALVNLLSYP AIYELVRNQD LPNKTEYSLR EVPTCVIDII DRLIILNSEA
KIRSLFNYEQ SHIFGLRDFI IDGLSVERNH VLVRINLVGG PLERILPPRL LEKSDNPYPW
PMFSSYPLPN CYLSDITRNA GIKQDNDLDK LLLCLKISDK QTEWIENCQR QFCKMMKAKP
DIISGEALIE LLEKFVLHLT ESPSECYFPS VEYTATDANV KNESLSSVQQ LGIKMTVRYG
KFLSLLKDGA ENDLTWVLKH CERFLKQQQT SIKSSLLCLQ GNYAGHDWFV SSLFMIMLGD
KEKTFQFLHQ FSRLLTSAFL WLPRLHISSY LPNDTVESGI HPVYFCSTHY IEMLLKAELP
LVFSAFHMSG FAPSQICLQW ITQCFWNYLD WIEICHYIAT CVFLGPDYQV YICIAVFKHL
QQDILQHTQT QDLQVFLKEE ALHGFRVSDY FEYMEILEQN YRTVLLRDMR NIRLQST*

speed

1.38 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems