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: ENST00000377636
Querying Taster for transcript #2: ENST00000431480
Querying Taster for transcript #3: ENST00000377625
Querying Taster for transcript #4: ENST00000425511
MT speed 0 s - this script 4.843079 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
TBC1D4	polymorphism_automatic	0	simple_aae				V811I	single base exchange	rs1062087		show file
TBC1D4	polymorphism_automatic	0	simple_aae				V819I	single base exchange	rs1062087		show file
TBC1D4	polymorphism_automatic	0	simple_aae				V36I	single base exchange	rs1062087		show file
TBC1D4	polymorphism_automatic	0	simple_aae				V756I	single base exchange	rs1062087		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 1 (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)

chr13:75884216C>TN/A show variant in all transcripts IGV

HGNC symbol

TBC1D4

Ensembl transcript ID

ENST00000431480

Genbank transcript ID

N/A

UniProt peptide

O60343

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2431G>A
cDNA.2778G>A
g.172035G>A

AA changes

V811I Score: 29 explain score(s)

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

811

frameshift

known variant

Reference ID: rs1062087

database	homozygous (T/T)	heterozygous	allele carriers
1000G	1384	797	2181
ExAC	-	-	-

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.562	0.016
	-0.161	0
(flanking)	-0.212	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
Acc marginally increased	172046	wt: 0.9719 / mu: 0.9722 (marginal change - not scored)	wt: CCGCTGGTTGTATTCCTGTCTGGGGAGGATGACCCAGAAAA mu: CCGCTGGTTATATTCCTGTCTGGGGAGGATGACCCAGAAAA	gtct\|GGGG

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

811

mutated

all conserved

811

Ptroglodytes

all conserved

ENSPTRG00000005932

819

Mmulatta

all conserved

ENSMMUG00000021197

822

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000033083

826

Ggallus

all conserved

ENSGALG00000016925

759

Trubripes

not conserved

ENSTRUG00000011039

756

Drerio

not conserved

ENSDARG00000075156

769

Dmelanogaster

not conserved

FBgn0261261

839

SKG

Celegans

no homologue

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3873 / 3873

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

1291 / 1291

position of stopcodon in wt / mu cDNA

4220 / 4220

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

348 / 348

chromosome

strand

-1

last intron/exon boundary

3987

theoretical NMD boundary in CDS

3589

length of CDS

3873

coding sequence (CDS) position

2431

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

2778

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

172035

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

75884216

original gDNA sequence snippet

TGGAGGAGGAACCGCTGGTTGTATTCCTGTCTGGGGAGGAT

altered gDNA sequence snippet

TGGAGGAGGAACCGCTGGTTATATTCCTGTCTGGGGAGGAT

original cDNA sequence snippet

TGGAGGAGGAACCGCTGGTTGTATTCCTGTCTGGGGAGGAT

altered cDNA sequence snippet

TGGAGGAGGAACCGCTGGTTATATTCCTGTCTGGGGAGGAT

wildtype AA sequence

MEPPSCIQDE PFPHPLEPEP GVSAQPGPGK PSDKRFRLWY VGGSCLDHRT TLPMLPWLMA
EIRRRSQKPE AGGCGAPAAR EVILVLSAPF LRCVPAPGAG ASGGTSPSAT QPNPAVFIFE
HKAQHISRFI HNSHDLTYFA YLIKAQPDDP ESQMACHVFR ATDPSQVPDV ISSIRQLSKA
AMKEDAKPSK DNEDAFYNSQ KFEVLYCGKV TVTHKKAPSS LIDDCMEKFS LHEQQRLKIQ
GEQRGPDPGE DLADLEVVVP GSPGDCLPEE ADGTDTHLGL PAGASQPALT SSRVCFPERI
LEDSGFDEQQ EFRSRCSSVT GVQRRVHEGS QKSQPRRRHA SAPSHVQPSD SEKNRTMLFQ
VGRFEINLIS PDTKSVVLEK NFKDISSCSQ GIKHVDHFGF ICRESPEPGL SQYICYVFQC
ASESLVDEVM LTLKQAFSTA AALQSAKTQI KLCEACPMHS LHKLCERIEG LYPPRAKLVI
QRHLSSLTDN EQADIFERVQ KMKPVSDQEE NELVILHLRQ LCEAKQKTHV HIGEGPSTIS
NSTIPENATS SGRFKLDILK NKAKRSLTSS LENIFSRGAN RMRGRLGSVD SFERSNSLAS
EKDYSPGDSP PGTPPASPPS SAWQTFPEED SDSPQFRRRA HTFSHPPSST KRKLNLQDGR
AQGVRSPLLR QSSSEQCSNL SSVRRMYKES NSSSSLPSLH TSFSAPSFTA PSFLKSFYQN
SGRLSPQYEN EISDGEGRKR TSSTCSNESL SVGGTSVTPR RISWRQRIFL RVASPMNKSP
SAMQQQDGLD RNELLPLSPL SPTMEEEPLV VFLSGEDDPE KIEERKKSKE LRSLWRKAIH
QQILLLRMEK ENQKLEASRD ELQSRKVKLD YEEVGACQKE VLITWDKKLL NCRAKIRCDM
EDIHTLLKEG VPKSRRGEIW QFLALQYRLR HRLPNKQQPP DISYKELLKQ LTAQQHAILV
DLGRTFPTHP YFSVQLGPGQ LSLFNLLKAY SLLDKEVGYC QGISFVAGVL LLHMSEEQAF
EMLKFLMYDL GFRKQYRPDM MSLQIQMYQL SRLLHDYHRD LYNHLEENEI SPSLYAAPWF
LTLFASQFSL GFVARVFDII FLQGTEVIFK VALSLLSSQE TLIMECESFE NIVEFLKNTL
PDMNTSEMEK IITQVFEMDI SKQLHAYEVE YHVLQDELQE SSYSCEDSET LEKLERANSQ
LKRQNMDLLE KLQVAHTKIQ ALESNLENLL TRETKMKSLI RTLEQEKMAY QKTVEQLRKL
LPADALVNCD LLLRDLNCNP NNKAKIGNKP *

mutated AA sequence

MEPPSCIQDE PFPHPLEPEP GVSAQPGPGK PSDKRFRLWY VGGSCLDHRT TLPMLPWLMA
EIRRRSQKPE AGGCGAPAAR EVILVLSAPF LRCVPAPGAG ASGGTSPSAT QPNPAVFIFE
HKAQHISRFI HNSHDLTYFA YLIKAQPDDP ESQMACHVFR ATDPSQVPDV ISSIRQLSKA
AMKEDAKPSK DNEDAFYNSQ KFEVLYCGKV TVTHKKAPSS LIDDCMEKFS LHEQQRLKIQ
GEQRGPDPGE DLADLEVVVP GSPGDCLPEE ADGTDTHLGL PAGASQPALT SSRVCFPERI
LEDSGFDEQQ EFRSRCSSVT GVQRRVHEGS QKSQPRRRHA SAPSHVQPSD SEKNRTMLFQ
VGRFEINLIS PDTKSVVLEK NFKDISSCSQ GIKHVDHFGF ICRESPEPGL SQYICYVFQC
ASESLVDEVM LTLKQAFSTA AALQSAKTQI KLCEACPMHS LHKLCERIEG LYPPRAKLVI
QRHLSSLTDN EQADIFERVQ KMKPVSDQEE NELVILHLRQ LCEAKQKTHV HIGEGPSTIS
NSTIPENATS SGRFKLDILK NKAKRSLTSS LENIFSRGAN RMRGRLGSVD SFERSNSLAS
EKDYSPGDSP PGTPPASPPS SAWQTFPEED SDSPQFRRRA HTFSHPPSST KRKLNLQDGR
AQGVRSPLLR QSSSEQCSNL SSVRRMYKES NSSSSLPSLH TSFSAPSFTA PSFLKSFYQN
SGRLSPQYEN EISDGEGRKR TSSTCSNESL SVGGTSVTPR RISWRQRIFL RVASPMNKSP
SAMQQQDGLD RNELLPLSPL SPTMEEEPLV IFLSGEDDPE KIEERKKSKE LRSLWRKAIH
QQILLLRMEK ENQKLEASRD ELQSRKVKLD YEEVGACQKE VLITWDKKLL NCRAKIRCDM
EDIHTLLKEG VPKSRRGEIW QFLALQYRLR HRLPNKQQPP DISYKELLKQ LTAQQHAILV
DLGRTFPTHP YFSVQLGPGQ LSLFNLLKAY SLLDKEVGYC QGISFVAGVL LLHMSEEQAF
EMLKFLMYDL GFRKQYRPDM MSLQIQMYQL SRLLHDYHRD LYNHLEENEI SPSLYAAPWF
LTLFASQFSL GFVARVFDII FLQGTEVIFK VALSLLSSQE TLIMECESFE NIVEFLKNTL
PDMNTSEMEK IITQVFEMDI SKQLHAYEVE YHVLQDELQE SSYSCEDSET LEKLERANSQ
LKRQNMDLLE KLQVAHTKIQ ALESNLENLL TRETKMKSLI RTLEQEKMAY QKTVEQLRKL
LPADALVNCD LLLRDLNCNP NNKAKIGNKP *

speed

1.36 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: 1 (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)

chr13:75884216C>TN/A show variant in all transcripts IGV

HGNC symbol

TBC1D4

Ensembl transcript ID

ENST00000377636

Genbank transcript ID

NM_014832

UniProt peptide

O60343

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2455G>A
cDNA.2802G>A
g.172035G>A

AA changes

V819I Score: 29 explain score(s)

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

819

frameshift

known variant

Reference ID: rs1062087

database	homozygous (T/T)	heterozygous	allele carriers
1000G	1384	797	2181
ExAC	-	-	-

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.562	0.016
	-0.161	0
(flanking)	-0.212	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
Acc marginally increased	172046	wt: 0.9719 / mu: 0.9722 (marginal change - not scored)	wt: CCGCTGGTTGTATTCCTGTCTGGGGAGGATGACCCAGAAAA mu: CCGCTGGTTATATTCCTGTCTGGGGAGGATGACCCAGAAAA	gtct\|GGGG

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

819

mutated

all conserved

819

Ptroglodytes

all conserved

ENSPTRG00000005932

819

Mmulatta

all conserved

ENSMMUG00000021197

822

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000033083

826

Ggallus

not conserved

ENSGALG00000016925

794

Trubripes

not conserved

ENSTRUG00000011039

756

Drerio

not conserved

ENSDARG00000075156

769

Dmelanogaster

not conserved

FBgn0261261

839

SKG

Celegans

no homologue

Xtropicalis

no homologue

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

4244 / 4244

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

348 / 348

chromosome

strand

-1

last intron/exon boundary

4011

theoretical NMD boundary in CDS

3613

length of CDS

3897

coding sequence (CDS) position

2455

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

2802

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

172035

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

75884216

original gDNA sequence snippet

TGGAGGAGGAACCGCTGGTTGTATTCCTGTCTGGGGAGGAT

altered gDNA sequence snippet

TGGAGGAGGAACCGCTGGTTATATTCCTGTCTGGGGAGGAT

original cDNA sequence snippet

TGGAGGAGGAACCGCTGGTTGTATTCCTGTCTGGGGAGGAT

altered cDNA sequence snippet

TGGAGGAGGAACCGCTGGTTATATTCCTGTCTGGGGAGGAT

wildtype AA sequence

MEPPSCIQDE PFPHPLEPEP GVSAQPGPGK PSDKRFRLWY VGGSCLDHRT TLPMLPWLMA
EIRRRSQKPE AGGCGAPAAR EVILVLSAPF LRCVPAPGAG ASGGTSPSAT QPNPAVFIFE
HKAQHISRFI HNSHDLTYFA YLIKAQPDDP ESQMACHVFR ATDPSQVPDV ISSIRQLSKA
AMKEDAKPSK DNEDAFYNSQ KFEVLYCGKV TVTHKKAPSS LIDDCMEKFS LHEQQRLKIQ
GEQRGPDPGE DLADLEVVVP GSPGDCLPEE ADGTDTHLGL PAGASQPALT SSRVCFPERI
LEDSGFDEQQ EFRSRCSSVT GVQRRVHEGS QKSQPRRRHA SAPSHVQPSD SEKNRTMLFQ
VGRFEINLIS PDTKSVVLEK NFKDISSCSQ GIKHVDHFGF ICRESPEPGL SQYICYVFQC
ASESLVDEVM LTLKQAFSTA AALQSAKTQI KLCEACPMHS LHKLCERIEG LYPPRAKLVI
QRHLSSLTDN EQADIFERVQ KMKPVSDQEE NELVILHLRQ LCEAKQKTHV HIGEGPSTIS
NSTIPENATS SGRFKLDILK NKAKRSLTSS LENIFSRGAN RMRGRLGSVD SFERSNSLAS
EKDYSPGDSP PGTPPASPPS SAWQTFPEED SDSPQFRRRA HTFSHPPSST KRKLNLQDGR
AQGVRSPLLR QSSSEQCSNL SSVRRMYKES NSSSSLPSLH TSFSAPSFTA PSFLKSFYQN
SGRLSPQYEN EIRQDTASES SDGEGRKRTS STCSNESLSV GGTSVTPRRI SWRQRIFLRV
ASPMNKSPSA MQQQDGLDRN ELLPLSPLSP TMEEEPLVVF LSGEDDPEKI EERKKSKELR
SLWRKAIHQQ ILLLRMEKEN QKLEASRDEL QSRKVKLDYE EVGACQKEVL ITWDKKLLNC
RAKIRCDMED IHTLLKEGVP KSRRGEIWQF LALQYRLRHR LPNKQQPPDI SYKELLKQLT
AQQHAILVDL GRTFPTHPYF SVQLGPGQLS LFNLLKAYSL LDKEVGYCQG ISFVAGVLLL
HMSEEQAFEM LKFLMYDLGF RKQYRPDMMS LQIQMYQLSR LLHDYHRDLY NHLEENEISP
SLYAAPWFLT LFASQFSLGF VARVFDIIFL QGTEVIFKVA LSLLSSQETL IMECESFENI
VEFLKNTLPD MNTSEMEKII TQVFEMDISK QLHAYEVEYH VLQDELQESS YSCEDSETLE
KLERANSQLK RQNMDLLEKL QVAHTKIQAL ESNLENLLTR ETKMKSLIRT LEQEKMAYQK
TVEQLRKLLP ADALVNCDLL LRDLNCNPNN KAKIGNKP*

mutated AA sequence

MEPPSCIQDE PFPHPLEPEP GVSAQPGPGK PSDKRFRLWY VGGSCLDHRT TLPMLPWLMA
EIRRRSQKPE AGGCGAPAAR EVILVLSAPF LRCVPAPGAG ASGGTSPSAT QPNPAVFIFE
HKAQHISRFI HNSHDLTYFA YLIKAQPDDP ESQMACHVFR ATDPSQVPDV ISSIRQLSKA
AMKEDAKPSK DNEDAFYNSQ KFEVLYCGKV TVTHKKAPSS LIDDCMEKFS LHEQQRLKIQ
GEQRGPDPGE DLADLEVVVP GSPGDCLPEE ADGTDTHLGL PAGASQPALT SSRVCFPERI
LEDSGFDEQQ EFRSRCSSVT GVQRRVHEGS QKSQPRRRHA SAPSHVQPSD SEKNRTMLFQ
VGRFEINLIS PDTKSVVLEK NFKDISSCSQ GIKHVDHFGF ICRESPEPGL SQYICYVFQC
ASESLVDEVM LTLKQAFSTA AALQSAKTQI KLCEACPMHS LHKLCERIEG LYPPRAKLVI
QRHLSSLTDN EQADIFERVQ KMKPVSDQEE NELVILHLRQ LCEAKQKTHV HIGEGPSTIS
NSTIPENATS SGRFKLDILK NKAKRSLTSS LENIFSRGAN RMRGRLGSVD SFERSNSLAS
EKDYSPGDSP PGTPPASPPS SAWQTFPEED SDSPQFRRRA HTFSHPPSST KRKLNLQDGR
AQGVRSPLLR QSSSEQCSNL SSVRRMYKES NSSSSLPSLH TSFSAPSFTA PSFLKSFYQN
SGRLSPQYEN EIRQDTASES SDGEGRKRTS STCSNESLSV GGTSVTPRRI SWRQRIFLRV
ASPMNKSPSA MQQQDGLDRN ELLPLSPLSP TMEEEPLVIF LSGEDDPEKI EERKKSKELR
SLWRKAIHQQ ILLLRMEKEN QKLEASRDEL QSRKVKLDYE EVGACQKEVL ITWDKKLLNC
RAKIRCDMED IHTLLKEGVP KSRRGEIWQF LALQYRLRHR LPNKQQPPDI SYKELLKQLT
AQQHAILVDL GRTFPTHPYF SVQLGPGQLS LFNLLKAYSL LDKEVGYCQG ISFVAGVLLL
HMSEEQAFEM LKFLMYDLGF RKQYRPDMMS LQIQMYQLSR LLHDYHRDLY NHLEENEISP
SLYAAPWFLT LFASQFSLGF VARVFDIIFL QGTEVIFKVA LSLLSSQETL IMECESFENI
VEFLKNTLPD MNTSEMEKII TQVFEMDISK QLHAYEVEYH VLQDELQESS YSCEDSETLE
KLERANSQLK RQNMDLLEKL QVAHTKIQAL ESNLENLLTR ETKMKSLIRT LEQEKMAYQK
TVEQLRKLLP ADALVNCDLL LRDLNCNPNN KAKIGNKP*

speed

0.12 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 1 (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)

chr13:75884216C>TN/A show variant in all transcripts IGV

HGNC symbol

TBC1D4

Ensembl transcript ID

ENST00000425511

Genbank transcript ID

N/A

UniProt peptide

O60343

alteration type

single base exchange

alteration region

CDS

DNA changes

c.106G>A
cDNA.2802G>A
g.172035G>A

AA changes

V36I Score: 29 explain score(s)

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

frameshift

known variant

Reference ID: rs1062087

database	homozygous (T/T)	heterozygous	allele carriers
1000G	1384	797	2181
ExAC	-	-	-

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.562	0.016
	-0.161	0
(flanking)	-0.212	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
Acc marginally increased	172046	wt: 0.9719 / mu: 0.9722 (marginal change - not scored)	wt: CCGCTGGTTGTATTCCTGTCTGGGGAGGATGACCCAGAAAA mu: CCGCTGGTTATATTCCTGTCTGGGGAGGATGACCCAGAAAA	gtct\|GGGG

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

all conserved

ENSPTRG00000005932

819

Mmulatta

all conserved

ENSMMUG00000021197

822

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000033083

826

Ggallus

all conserved

ENSGALG00000016925

759

Trubripes

not conserved

ENSTRUG00000011039

756

Drerio

not conserved

ENSDARG00000075156

769

Dmelanogaster

not conserved

FBgn0261261

835

SKG

Celegans

no homologue

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1389 / 1389

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

463 / 463

position of stopcodon in wt / mu cDNA

4085 / 4085

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

2697 / 2697

chromosome

strand

-1

last intron/exon boundary

3852

theoretical NMD boundary in CDS

1105

length of CDS

1389

coding sequence (CDS) position

106

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

2802

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

172035

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

75884216

original gDNA sequence snippet

TGGAGGAGGAACCGCTGGTTGTATTCCTGTCTGGGGAGGAT

altered gDNA sequence snippet

TGGAGGAGGAACCGCTGGTTATATTCCTGTCTGGGGAGGAT

original cDNA sequence snippet

TGGAGGAGGAACCGCTGGTTGTATTCCTGTCTGGGGAGGAT

altered cDNA sequence snippet

TGGAGGAGGAACCGCTGGTTATATTCCTGTCTGGGGAGGAT

wildtype AA sequence

MNKSPSAMQQ QDGLDRNELL PLSPLSPTME EEPLVVFLSG EDDPEKIEER KKSKELRSLW
RKAIHQQILL LRMEKENQKL EGVPKSRRGE IWQFLALQYR LRHRLPNKQQ PPDISYKELL
KQLTAQQHAI LVDLGRTFPT HPYFSVQLGP GQLSLFNLLK AYSLLDKEVG YCQGISFVAG
VLLLHMSEEQ AFEMLKFLMY DLGFRKQYRP DMMSLQIQMY QLSRLLHDYH RDLYNHLEEN
EISPSLYAAP WFLTLFASQF SLGFVARVFD IIFLQGTEVI FKVALSLLSS QETLIMECES
FENIVEFLKN TLPDMNTSEM EKIITQVFEM DISKQLHAYE VEYHVLQDEL QESSYSCEDS
ETLEKLERAN SQLKRQNMDL LEKLQVAHTK IQALESNLEN LLTRETKMKS LIRTLEQEKM
AYQKTVEQLR KLLPADALVN CDLLLRDLNC NPNNKAKIGN KP*

mutated AA sequence

MNKSPSAMQQ QDGLDRNELL PLSPLSPTME EEPLVIFLSG EDDPEKIEER KKSKELRSLW
RKAIHQQILL LRMEKENQKL EGVPKSRRGE IWQFLALQYR LRHRLPNKQQ PPDISYKELL
KQLTAQQHAI LVDLGRTFPT HPYFSVQLGP GQLSLFNLLK AYSLLDKEVG YCQGISFVAG
VLLLHMSEEQ AFEMLKFLMY DLGFRKQYRP DMMSLQIQMY QLSRLLHDYH RDLYNHLEEN
EISPSLYAAP WFLTLFASQF SLGFVARVFD IIFLQGTEVI FKVALSLLSS QETLIMECES
FENIVEFLKN TLPDMNTSEM EKIITQVFEM DISKQLHAYE VEYHVLQDEL QESSYSCEDS
ETLEKLERAN SQLKRQNMDL LEKLQVAHTK IQALESNLEN LLTRETKMKS LIRTLEQEKM
AYQKTVEQLR KLLPADALVN CDLLLRDLNC NPNNKAKIGN KP*

speed

0.12 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 1 (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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr13:75884216C>TN/A show variant in all transcripts IGV

HGNC symbol

TBC1D4

Ensembl transcript ID

ENST00000377625

Genbank transcript ID

N/A

UniProt peptide

O60343

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2266G>A
cDNA.2613G>A
g.172035G>A

AA changes

V756I Score: 29 explain score(s)

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

756

frameshift

known variant

Reference ID: rs1062087

database	homozygous (T/T)	heterozygous	allele carriers
1000G	1384	797	2181
ExAC	-	-	-

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.562	0.016
	-0.161	0
(flanking)	-0.212	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
Acc marginally increased	172046	wt: 0.9719 / mu: 0.9722 (marginal change - not scored)	wt: CCGCTGGTTGTATTCCTGTCTGGGGAGGATGACCCAGAAAA mu: CCGCTGGTTATATTCCTGTCTGGGGAGGATGACCCAGAAAA	gtct\|GGGG

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

756

mutated

all conserved

756

Ptroglodytes

all conserved

ENSPTRG00000005932

787

VASP

PSAMQQQDGLDRNELLPLSPLSPTMEEEP

Mmulatta

all conserved

ENSMMUG00000021197

822

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000033083

791

PLSP

Ggallus

all conserved

ENSGALG00000016925

759

Trubripes

not conserved

ENSTRUG00000011039

756

Drerio

not conserved

ENSDARG00000075156

769

Dmelanogaster

not conserved

FBgn0261261

847

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
672	759	COMPBIAS	Ser-rich.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3708 / 3708

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

1236 / 1236

position of stopcodon in wt / mu cDNA

4055 / 4055

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

348 / 348

chromosome

strand

-1

last intron/exon boundary

3822

theoretical NMD boundary in CDS

3424

length of CDS

3708

coding sequence (CDS) position

2266

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

2613

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

172035

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

75884216

original gDNA sequence snippet

TGGAGGAGGAACCGCTGGTTGTATTCCTGTCTGGGGAGGAT

altered gDNA sequence snippet

TGGAGGAGGAACCGCTGGTTATATTCCTGTCTGGGGAGGAT

original cDNA sequence snippet

TGGAGGAGGAACCGCTGGTTGTATTCCTGTCTGGGGAGGAT

altered cDNA sequence snippet

TGGAGGAGGAACCGCTGGTTATATTCCTGTCTGGGGAGGAT

wildtype AA sequence

MEPPSCIQDE PFPHPLEPEP GVSAQPGPGK PSDKRFRLWY VGGSCLDHRT TLPMLPWLMA
EIRRRSQKPE AGGCGAPAAR EVILVLSAPF LRCVPAPGAG ASGGTSPSAT QPNPAVFIFE
HKAQHISRFI HNSHDLTYFA YLIKAQPDDP ESQMACHVFR ATDPSQVPDV ISSIRQLSKA
AMKEDAKPSK DNEDAFYNSQ KFEVLYCGKV TVTHKKAPSS LIDDCMEKFS LHEQQRLKIQ
GEQRGPDPGE DLADLEVVVP GSPGDCLPEE ADGTDTHLGL PAGASQPALT SSRVCFPERI
LEDSGFDEQQ EFRSRCSSVT GVQRRVHEGS QKSQPRRRHA SAPSHVQPSD SEKNRTMLFQ
VGRFEINLIS PDTKSVVLEK NFKDISSCSQ GIKHVDHFGF ICRESPEPGL SQYICYVFQC
ASESLVDEVM LTLKQAFSTA AALQSAKTQI KLCEACPMHS LHKLCERIEG LYPPRAKLVI
QRHLSSLTDN EQADIFERVQ KMKPVSDQEE NELVILHLRQ LCEAKQKTHV HIGEGPSTIS
NSTIPENATS SGRFKLDILK NKAKRSLTSS LENIFSRGAN RMRGRLGSVD SFERSNSLAS
EKDYSPGDSP PGTPPASPPS SAWQTFPEED SDSPQFRRRA HTFSHPPSST KRKLNLQDGR
AQGVRSPLLR QSSSEQCSDG EGRKRTSSTC SNESLSVGGT SVTPRRISWR QRIFLRVASP
MNKSPSAMQQ QDGLDRNELL PLSPLSPTME EEPLVVFLSG EDDPEKIEER KKSKELRSLW
RKAIHQQILL LRMEKENQKL EASRDELQSR KVKLDYEEVG ACQKEVLITW DKKLLNCRAK
IRCDMEDIHT LLKEGVPKSR RGEIWQFLAL QYRLRHRLPN KQQPPDISYK ELLKQLTAQQ
HAILVDLGRT FPTHPYFSVQ LGPGQLSLFN LLKAYSLLDK EVGYCQGISF VAGVLLLHMS
EEQAFEMLKF LMYDLGFRKQ YRPDMMSLQI QMYQLSRLLH DYHRDLYNHL EENEISPSLY
AAPWFLTLFA SQFSLGFVAR VFDIIFLQGT EVIFKVALSL LSSQETLIME CESFENIVEF
LKNTLPDMNT SEMEKIITQV FEMDISKQLH AYEVEYHVLQ DELQESSYSC EDSETLEKLE
RANSQLKRQN MDLLEKLQVA HTKIQALESN LENLLTRETK MKSLIRTLEQ EKMAYQKTVE
QLRKLLPADA LVNCDLLLRD LNCNPNNKAK IGNKP*

mutated AA sequence

MEPPSCIQDE PFPHPLEPEP GVSAQPGPGK PSDKRFRLWY VGGSCLDHRT TLPMLPWLMA
EIRRRSQKPE AGGCGAPAAR EVILVLSAPF LRCVPAPGAG ASGGTSPSAT QPNPAVFIFE
HKAQHISRFI HNSHDLTYFA YLIKAQPDDP ESQMACHVFR ATDPSQVPDV ISSIRQLSKA
AMKEDAKPSK DNEDAFYNSQ KFEVLYCGKV TVTHKKAPSS LIDDCMEKFS LHEQQRLKIQ
GEQRGPDPGE DLADLEVVVP GSPGDCLPEE ADGTDTHLGL PAGASQPALT SSRVCFPERI
LEDSGFDEQQ EFRSRCSSVT GVQRRVHEGS QKSQPRRRHA SAPSHVQPSD SEKNRTMLFQ
VGRFEINLIS PDTKSVVLEK NFKDISSCSQ GIKHVDHFGF ICRESPEPGL SQYICYVFQC
ASESLVDEVM LTLKQAFSTA AALQSAKTQI KLCEACPMHS LHKLCERIEG LYPPRAKLVI
QRHLSSLTDN EQADIFERVQ KMKPVSDQEE NELVILHLRQ LCEAKQKTHV HIGEGPSTIS
NSTIPENATS SGRFKLDILK NKAKRSLTSS LENIFSRGAN RMRGRLGSVD SFERSNSLAS
EKDYSPGDSP PGTPPASPPS SAWQTFPEED SDSPQFRRRA HTFSHPPSST KRKLNLQDGR
AQGVRSPLLR QSSSEQCSDG EGRKRTSSTC SNESLSVGGT SVTPRRISWR QRIFLRVASP
MNKSPSAMQQ QDGLDRNELL PLSPLSPTME EEPLVIFLSG EDDPEKIEER KKSKELRSLW
RKAIHQQILL LRMEKENQKL EASRDELQSR KVKLDYEEVG ACQKEVLITW DKKLLNCRAK
IRCDMEDIHT LLKEGVPKSR RGEIWQFLAL QYRLRHRLPN KQQPPDISYK ELLKQLTAQQ
HAILVDLGRT FPTHPYFSVQ LGPGQLSLFN LLKAYSLLDK EVGYCQGISF VAGVLLLHMS
EEQAFEMLKF LMYDLGFRKQ YRPDMMSLQI QMYQLSRLLH DYHRDLYNHL EENEISPSLY
AAPWFLTLFA SQFSLGFVAR VFDIIFLQGT EVIFKVALSL LSSQETLIME CESFENIVEF
LKNTLPDMNT SEMEKIITQV FEMDISKQLH AYEVEYHVLQ DELQESSYSC EDSETLEKLE
RANSQLKRQN MDLLEKLQVA HTKIQALESN LENLLTRETK MKSLIRTLEQ EKMAYQKTVE
QLRKLLPADA LVNCDLLLRD LNCNPNNKAK IGNKP*

speed

1.36 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