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: ENST00000265755
Querying Taster for transcript #2: ENST00000455841
Querying Taster for transcript #3: ENST00000424337
Querying Taster for transcript #4: ENST00000476977
MT speed 0 s - this script 5.382769 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
GTF2IRD1	polymorphism_automatic	0	simple_aae				M684V	single base exchange	rs2301895		show file
GTF2IRD1	polymorphism_automatic	0	simple_aae				M652V	single base exchange	rs2301895		show file
GTF2IRD1	polymorphism_automatic	0	simple_aae				M652V	single base exchange	rs2301895		show file
GTF2IRD1	polymorphism_automatic	0	simple_aae				M652V	single base exchange	rs2301895		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)

chr7:73969541A>GN/A show variant in all transcripts IGV

HGNC symbol

GTF2IRD1

Ensembl transcript ID

ENST00000455841

Genbank transcript ID

NM_001199207

UniProt peptide

Q9UHL9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2050A>G
cDNA.2263A>G
g.101422A>G

AA changes

M684V Score: 21 explain score(s)

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

684

frameshift

known variant

Reference ID: rs2301895

database	homozygous (G/G)	heterozygous	allele carriers
1000G	505	1066	1571
ExAC	6479	19809	26288

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.032	0
	-1.04	0
(flanking)	-0.161	0.01

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

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

684

mutated

all conserved

684

Ptroglodytes

all conserved

ENSPTRG00000019292

652

QGTASSLGFSPPALPP

Mmulatta

all conserved

ENSMMUG00000018842

684

Fcatus

no alignment

ENSFCAG00000006551

n/a

Mmusculus

all conserved

ENSMUSG00000023079

652

Ggallus

all conserved

ENSGALG00000001263

657

PGAKA

Trubripes

not conserved

ENSTRUG00000010068

663

SVCES

DAT

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all conserved

ENSXETG00000033663

652

PGSLGI

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2931 / 2931

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

977 / 977

position of stopcodon in wt / mu cDNA

3144 / 3144

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

214 / 214

chromosome

strand

last intron/exon boundary

3076

theoretical NMD boundary in CDS

2812

length of CDS

2931

coding sequence (CDS) position

2050

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

2263

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

101422

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

73969541

original gDNA sequence snippet

AGGGAGTCAAAGAGCCCATCATGGATAGTCAAGGTACCCAG

altered gDNA sequence snippet

AGGGAGTCAAAGAGCCCATCGTGGATAGTCAAGGTACCCAG

original cDNA sequence snippet

AGGGAGTCAAAGAGCCCATCATGGATAGTCAAGAGAGGGAT

altered cDNA sequence snippet

AGGGAGTCAAAGAGCCCATCGTGGATAGTCAAGAGAGGGAT

wildtype AA sequence

MALLGKRCDV PTNGCGPDRW NSAFTRKDEI ITSLVSALDS MCSALSKLNA EVACVAVHDE
SAFVVGTEKG RMFLNARKEL QSDFLRFCLS AAQHRAATSQ LEGRVVRRVL TVASRALCPT
GGPPWKDPEA EHPKKVQRGE GGGRSLPRSS LEHGSDVYLL RKMVEEVFDV LYSEALGRAS
VVPLPYERLL REPGLLAVQG LPEGLAFRRP AEYDPKALMA ILEHSHRIRF KLKRPLEDGG
RDSKALVELN GVSLIPKGSR DCGLHGQAPK VPPQDLPPTA TSSSMASFLY STALPNHAIR
ELKQEAPSCP LAPSDLGLSR PMPEPKATGA QDFSDCCGQK PTGPGGPLIQ NVHASKRILF
SIVHDKSEKW DAFIKETEDI NTLRECVQIL FNSRYAEALG LDHMVPVPYR KIACDPEAVE
IVGIPDKIPF KRPCTYGVPK LKRILEERHS IHFIIKRMFD ERIFTGNKFT KDTTKLEPAS
PPEDTSAEVS RATVLDLAGN ARSDKGSMSE DCGPGTSGEL GGLRPIKIEP EDLDIIQVTV
PDPSPTSEEM TDSMPGHLPS EDSGYGMEML TDKGLSEDAR PEERPVEDSH GDVIRPLRKQ
VELLFNTRYA KAIGISEPVK VPYSKFLMHP EELFVVGLPE GISLRRPNCF GIAKLRKILE
ASNSIQFVIK RPELLTEGVK EPIMDSQERD SGDPLVDESL KRQGFQENYD ARLSRIDIAN
TLREQVQDLF NKKYGEALGI KYPVQVPYKR IKSNPGSVII EGLPPGIPFR KPCTFGSQNL
ERILAVADKI KFTVTRPFQG LIPKPDEDDA NRLGEKVILR EQVKELFNEK YGEALGLNRP
VLVPYKLIRD SPDAVEVTGL PDDIPFRNPN TYDIHRLEKI LKAREHVRMV IINQLQPFAE
ICNDAKVPAK DSSIPKRKRK RVSEGNSVSS SSSSSSSSSS NPDSVASANQ ISLVQWPMYM
VDYAGLNVQL PGPLNY*

mutated AA sequence

MALLGKRCDV PTNGCGPDRW NSAFTRKDEI ITSLVSALDS MCSALSKLNA EVACVAVHDE
SAFVVGTEKG RMFLNARKEL QSDFLRFCLS AAQHRAATSQ LEGRVVRRVL TVASRALCPT
GGPPWKDPEA EHPKKVQRGE GGGRSLPRSS LEHGSDVYLL RKMVEEVFDV LYSEALGRAS
VVPLPYERLL REPGLLAVQG LPEGLAFRRP AEYDPKALMA ILEHSHRIRF KLKRPLEDGG
RDSKALVELN GVSLIPKGSR DCGLHGQAPK VPPQDLPPTA TSSSMASFLY STALPNHAIR
ELKQEAPSCP LAPSDLGLSR PMPEPKATGA QDFSDCCGQK PTGPGGPLIQ NVHASKRILF
SIVHDKSEKW DAFIKETEDI NTLRECVQIL FNSRYAEALG LDHMVPVPYR KIACDPEAVE
IVGIPDKIPF KRPCTYGVPK LKRILEERHS IHFIIKRMFD ERIFTGNKFT KDTTKLEPAS
PPEDTSAEVS RATVLDLAGN ARSDKGSMSE DCGPGTSGEL GGLRPIKIEP EDLDIIQVTV
PDPSPTSEEM TDSMPGHLPS EDSGYGMEML TDKGLSEDAR PEERPVEDSH GDVIRPLRKQ
VELLFNTRYA KAIGISEPVK VPYSKFLMHP EELFVVGLPE GISLRRPNCF GIAKLRKILE
ASNSIQFVIK RPELLTEGVK EPIVDSQERD SGDPLVDESL KRQGFQENYD ARLSRIDIAN
TLREQVQDLF NKKYGEALGI KYPVQVPYKR IKSNPGSVII EGLPPGIPFR KPCTFGSQNL
ERILAVADKI KFTVTRPFQG LIPKPDEDDA NRLGEKVILR EQVKELFNEK YGEALGLNRP
VLVPYKLIRD SPDAVEVTGL PDDIPFRNPN TYDIHRLEKI LKAREHVRMV IINQLQPFAE
ICNDAKVPAK DSSIPKRKRK RVSEGNSVSS SSSSSSSSSS NPDSVASANQ ISLVQWPMYM
VDYAGLNVQL PGPLNY*

speed

1.10 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)

chr7:73969541A>GN/A show variant in all transcripts IGV

HGNC symbol

GTF2IRD1

Ensembl transcript ID

ENST00000265755

Genbank transcript ID

NM_016328

UniProt peptide

Q9UHL9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1954A>G
cDNA.2347A>G
g.101422A>G

AA changes

M652V Score: 21 explain score(s)

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

652

frameshift

known variant

Reference ID: rs2301895

database	homozygous (G/G)	heterozygous	allele carriers
1000G	505	1066	1571
ExAC	6479	19809	26288

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.032	0
	-1.04	0
(flanking)	-0.161	0.01

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

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

652

mutated

all conserved

652

Ptroglodytes

all conserved

ENSPTRG00000019292

652

Mmulatta

all conserved

ENSMMUG00000018842

684

Fcatus

no alignment

ENSFCAG00000006551

n/a

Mmusculus

all conserved

ENSMUSG00000023079

652

Ggallus

all conserved

ENSGALG00000001263

657

Trubripes

not conserved

ENSTRUG00000010068

663

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all conserved

ENSXETG00000033663

652

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2880 / 2880

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

960 / 960

position of stopcodon in wt / mu cDNA

3273 / 3273

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

394 / 394

chromosome

strand

last intron/exon boundary

3205

theoretical NMD boundary in CDS

2761

length of CDS

2880

coding sequence (CDS) position

1954

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

2347

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

101422

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

73969541

original gDNA sequence snippet

AGGGAGTCAAAGAGCCCATCATGGATAGTCAAGGTACCCAG

altered gDNA sequence snippet

AGGGAGTCAAAGAGCCCATCGTGGATAGTCAAGGTACCCAG

original cDNA sequence snippet

AGGGAGTCAAAGAGCCCATCATGGATAGTCAAGGAACTGCC

altered cDNA sequence snippet

AGGGAGTCAAAGAGCCCATCGTGGATAGTCAAGGAACTGCC

wildtype AA sequence

MALLGKRCDV PTNGCGPDRW NSAFTRKDEI ITSLVSALDS MCSALSKLNA EVACVAVHDE
SAFVVGTEKG RMFLNARKEL QSDFLRFCRG PPWKDPEAEH PKKVQRGEGG GRSLPRSSLE
HGSDVYLLRK MVEEVFDVLY SEALGRASVV PLPYERLLRE PGLLAVQGLP EGLAFRRPAE
YDPKALMAIL EHSHRIRFKL KRPLEDGGRD SKALVELNGV SLIPKGSRDC GLHGQAPKVP
PQDLPPTATS SSMASFLYST ALPNHAIREL KQEAPSCPLA PSDLGLSRPM PEPKATGAQD
FSDCCGQKPT GPGGPLIQNV HASKRILFSI VHDKSEKWDA FIKETEDINT LRECVQILFN
SRYAEALGLD HMVPVPYRKI ACDPEAVEIV GIPDKIPFKR PCTYGVPKLK RILEERHSIH
FIIKRMFDER IFTGNKFTKD TTKLEPASPP EDTSAEVSRA TVLDLAGNAR SDKGSMSEDC
GPGTSGELGG LRPIKIEPED LDIIQVTVPD PSPTSEEMTD SMPGHLPSED SGYGMEMLTD
KGLSEDARPE ERPVEDSHGD VIRPLRKQVE LLFNTRYAKA IGISEPVKVP YSKFLMHPEE
LFVVGLPEGI SLRRPNCFGI AKLRKILEAS NSIQFVIKRP ELLTEGVKEP IMDSQGTASS
LGFSPPALPP ERDSGDPLVD ESLKRQGFQE NYDARLSRID IANTLREQVQ DLFNKKYGEA
LGIKYPVQVP YKRIKSNPGS VIIEGLPPGI PFRKPCTFGS QNLERILAVA DKIKFTVTRP
FQGLIPKPDE DDANRLGEKV ILREQVKELF NEKYGEALGL NRPVLVPYKL IRDSPDAVEV
TGLPDDIPFR NPNTYDIHRL EKILKAREHV RMVIINQLQP FAEICNDAKV PAKDSSIPKR
KRKRVSEGNS VSSSSSSSSS SSSNPDSVAS ANQISLVQWP MYMVDYAGLN VQLPGPLNY*

mutated AA sequence

MALLGKRCDV PTNGCGPDRW NSAFTRKDEI ITSLVSALDS MCSALSKLNA EVACVAVHDE
SAFVVGTEKG RMFLNARKEL QSDFLRFCRG PPWKDPEAEH PKKVQRGEGG GRSLPRSSLE
HGSDVYLLRK MVEEVFDVLY SEALGRASVV PLPYERLLRE PGLLAVQGLP EGLAFRRPAE
YDPKALMAIL EHSHRIRFKL KRPLEDGGRD SKALVELNGV SLIPKGSRDC GLHGQAPKVP
PQDLPPTATS SSMASFLYST ALPNHAIREL KQEAPSCPLA PSDLGLSRPM PEPKATGAQD
FSDCCGQKPT GPGGPLIQNV HASKRILFSI VHDKSEKWDA FIKETEDINT LRECVQILFN
SRYAEALGLD HMVPVPYRKI ACDPEAVEIV GIPDKIPFKR PCTYGVPKLK RILEERHSIH
FIIKRMFDER IFTGNKFTKD TTKLEPASPP EDTSAEVSRA TVLDLAGNAR SDKGSMSEDC
GPGTSGELGG LRPIKIEPED LDIIQVTVPD PSPTSEEMTD SMPGHLPSED SGYGMEMLTD
KGLSEDARPE ERPVEDSHGD VIRPLRKQVE LLFNTRYAKA IGISEPVKVP YSKFLMHPEE
LFVVGLPEGI SLRRPNCFGI AKLRKILEAS NSIQFVIKRP ELLTEGVKEP IVDSQGTASS
LGFSPPALPP ERDSGDPLVD ESLKRQGFQE NYDARLSRID IANTLREQVQ DLFNKKYGEA
LGIKYPVQVP YKRIKSNPGS VIIEGLPPGI PFRKPCTFGS QNLERILAVA DKIKFTVTRP
FQGLIPKPDE DDANRLGEKV ILREQVKELF NEKYGEALGL NRPVLVPYKL IRDSPDAVEV
TGLPDDIPFR NPNTYDIHRL EKILKAREHV RMVIINQLQP FAEICNDAKV PAKDSSIPKR
KRKRVSEGNS VSSSSSSSSS SSSNPDSVAS ANQISLVQWP MYMVDYAGLN VQLPGPLNY*

speed

1.00 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)

chr7:73969541A>GN/A show variant in all transcripts IGV

HGNC symbol

GTF2IRD1

Ensembl transcript ID

ENST00000424337

Genbank transcript ID

NM_005685

UniProt peptide

Q9UHL9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1954A>G
cDNA.2028A>G
g.101422A>G

AA changes

M652V Score: 21 explain score(s)

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

652

frameshift

known variant

Reference ID: rs2301895

database	homozygous (G/G)	heterozygous	allele carriers
1000G	505	1066	1571
ExAC	6479	19809	26288

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.032	0
	-1.04	0
(flanking)	-0.161	0.01

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

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

652

mutated

all conserved

652

Ptroglodytes

all conserved

ENSPTRG00000019292

652

QGTASS

Mmulatta

all conserved

ENSMMUG00000018842

684

Fcatus

no alignment

ENSFCAG00000006551

n/a

Mmusculus

all conserved

ENSMUSG00000023079

652

Ggallus

all conserved

ENSGALG00000001263

657

PGAKA

Trubripes

not conserved

ENSTRUG00000010068

663

SVCES

DAT

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all conserved

ENSXETG00000033663

652

PGSLGI

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2835 / 2835

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

945 / 945

position of stopcodon in wt / mu cDNA

2909 / 2909

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

75 / 75

chromosome

strand

last intron/exon boundary

2841

theoretical NMD boundary in CDS

2716

length of CDS

2835

coding sequence (CDS) position

1954

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

2028

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

101422

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

73969541

original gDNA sequence snippet

AGGGAGTCAAAGAGCCCATCATGGATAGTCAAGGTACCCAG

altered gDNA sequence snippet

AGGGAGTCAAAGAGCCCATCGTGGATAGTCAAGGTACCCAG

original cDNA sequence snippet

AGGGAGTCAAAGAGCCCATCATGGATAGTCAAGAGAGGGAT

altered cDNA sequence snippet

AGGGAGTCAAAGAGCCCATCGTGGATAGTCAAGAGAGGGAT

wildtype AA sequence

MALLGKRCDV PTNGCGPDRW NSAFTRKDEI ITSLVSALDS MCSALSKLNA EVACVAVHDE
SAFVVGTEKG RMFLNARKEL QSDFLRFCRG PPWKDPEAEH PKKVQRGEGG GRSLPRSSLE
HGSDVYLLRK MVEEVFDVLY SEALGRASVV PLPYERLLRE PGLLAVQGLP EGLAFRRPAE
YDPKALMAIL EHSHRIRFKL KRPLEDGGRD SKALVELNGV SLIPKGSRDC GLHGQAPKVP
PQDLPPTATS SSMASFLYST ALPNHAIREL KQEAPSCPLA PSDLGLSRPM PEPKATGAQD
FSDCCGQKPT GPGGPLIQNV HASKRILFSI VHDKSEKWDA FIKETEDINT LRECVQILFN
SRYAEALGLD HMVPVPYRKI ACDPEAVEIV GIPDKIPFKR PCTYGVPKLK RILEERHSIH
FIIKRMFDER IFTGNKFTKD TTKLEPASPP EDTSAEVSRA TVLDLAGNAR SDKGSMSEDC
GPGTSGELGG LRPIKIEPED LDIIQVTVPD PSPTSEEMTD SMPGHLPSED SGYGMEMLTD
KGLSEDARPE ERPVEDSHGD VIRPLRKQVE LLFNTRYAKA IGISEPVKVP YSKFLMHPEE
LFVVGLPEGI SLRRPNCFGI AKLRKILEAS NSIQFVIKRP ELLTEGVKEP IMDSQERDSG
DPLVDESLKR QGFQENYDAR LSRIDIANTL REQVQDLFNK KYGEALGIKY PVQVPYKRIK
SNPGSVIIEG LPPGIPFRKP CTFGSQNLER ILAVADKIKF TVTRPFQGLI PKPDEDDANR
LGEKVILREQ VKELFNEKYG EALGLNRPVL VPYKLIRDSP DAVEVTGLPD DIPFRNPNTY
DIHRLEKILK AREHVRMVII NQLQPFAEIC NDAKVPAKDS SIPKRKRKRV SEGNSVSSSS
SSSSSSSSNP DSVASANQIS LVQWPMYMVD YAGLNVQLPG PLNY*

mutated AA sequence

MALLGKRCDV PTNGCGPDRW NSAFTRKDEI ITSLVSALDS MCSALSKLNA EVACVAVHDE
SAFVVGTEKG RMFLNARKEL QSDFLRFCRG PPWKDPEAEH PKKVQRGEGG GRSLPRSSLE
HGSDVYLLRK MVEEVFDVLY SEALGRASVV PLPYERLLRE PGLLAVQGLP EGLAFRRPAE
YDPKALMAIL EHSHRIRFKL KRPLEDGGRD SKALVELNGV SLIPKGSRDC GLHGQAPKVP
PQDLPPTATS SSMASFLYST ALPNHAIREL KQEAPSCPLA PSDLGLSRPM PEPKATGAQD
FSDCCGQKPT GPGGPLIQNV HASKRILFSI VHDKSEKWDA FIKETEDINT LRECVQILFN
SRYAEALGLD HMVPVPYRKI ACDPEAVEIV GIPDKIPFKR PCTYGVPKLK RILEERHSIH
FIIKRMFDER IFTGNKFTKD TTKLEPASPP EDTSAEVSRA TVLDLAGNAR SDKGSMSEDC
GPGTSGELGG LRPIKIEPED LDIIQVTVPD PSPTSEEMTD SMPGHLPSED SGYGMEMLTD
KGLSEDARPE ERPVEDSHGD VIRPLRKQVE LLFNTRYAKA IGISEPVKVP YSKFLMHPEE
LFVVGLPEGI SLRRPNCFGI AKLRKILEAS NSIQFVIKRP ELLTEGVKEP IVDSQERDSG
DPLVDESLKR QGFQENYDAR LSRIDIANTL REQVQDLFNK KYGEALGIKY PVQVPYKRIK
SNPGSVIIEG LPPGIPFRKP CTFGSQNLER ILAVADKIKF TVTRPFQGLI PKPDEDDANR
LGEKVILREQ VKELFNEKYG EALGLNRPVL VPYKLIRDSP DAVEVTGLPD DIPFRNPNTY
DIHRLEKILK AREHVRMVII NQLQPFAEIC NDAKVPAKDS SIPKRKRKRV SEGNSVSSSS
SSSSSSSSNP DSVASANQIS LVQWPMYMVD YAGLNVQLPG PLNY*

speed

1.12 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)

chr7:73969541A>GN/A show variant in all transcripts IGV

HGNC symbol

GTF2IRD1

Ensembl transcript ID

ENST00000476977

Genbank transcript ID

N/A

UniProt peptide

Q9UHL9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1954A>G
cDNA.3645A>G
g.101422A>G

AA changes

M652V Score: 21 explain score(s)

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

652

frameshift

known variant

Reference ID: rs2301895

database	homozygous (G/G)	heterozygous	allele carriers
1000G	505	1066	1571
ExAC	6479	19809	26288

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.032	0
	-1.04	0
(flanking)	-0.161	0.01

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

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

652

mutated

all conserved

652

Ptroglodytes

all conserved

ENSPTRG00000019292

652

QGTASS

Mmulatta

all conserved

ENSMMUG00000018842

684

Fcatus

no alignment

ENSFCAG00000006551

n/a

Mmusculus

all conserved

ENSMUSG00000023079

652

Ggallus

all conserved

ENSGALG00000001263

657

PGAKA

Trubripes

not conserved

ENSTRUG00000010068

663

SVCES

DAT

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all conserved

ENSXETG00000033663

652

PGSLGI

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2883 / 2883

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

961 / 961

position of stopcodon in wt / mu cDNA

4574 / 4574

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

1692 / 1692

chromosome

strand

last intron/exon boundary

4321

theoretical NMD boundary in CDS

2579

length of CDS

2883

coding sequence (CDS) position

1954

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

3645

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

101422

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

73969541

original gDNA sequence snippet

AGGGAGTCAAAGAGCCCATCATGGATAGTCAAGGTACCCAG

altered gDNA sequence snippet

AGGGAGTCAAAGAGCCCATCGTGGATAGTCAAGGTACCCAG

original cDNA sequence snippet

AGGGAGTCAAAGAGCCCATCATGGATAGTCAAGAGAGGGAT

altered cDNA sequence snippet

AGGGAGTCAAAGAGCCCATCGTGGATAGTCAAGAGAGGGAT

wildtype AA sequence

MALLGKRCDV PTNGCGPDRW NSAFTRKDEI ITSLVSALDS MCSALSKLNA EVACVAVHDE
SAFVVGTEKG RMFLNARKEL QSDFLRFCRG PPWKDPEAEH PKKVQRGEGG GRSLPRSSLE
HGSDVYLLRK MVEEVFDVLY SEALGRASVV PLPYERLLRE PGLLAVQGLP EGLAFRRPAE
YDPKALMAIL EHSHRIRFKL KRPLEDGGRD SKALVELNGV SLIPKGSRDC GLHGQAPKVP
PQDLPPTATS SSMASFLYST ALPNHAIREL KQEAPSCPLA PSDLGLSRPM PEPKATGAQD
FSDCCGQKPT GPGGPLIQNV HASKRILFSI VHDKSEKWDA FIKETEDINT LRECVQILFN
SRYAEALGLD HMVPVPYRKI ACDPEAVEIV GIPDKIPFKR PCTYGVPKLK RILEERHSIH
FIIKRMFDER IFTGNKFTKD TTKLEPASPP EDTSAEVSRA TVLDLAGNAR SDKGSMSEDC
GPGTSGELGG LRPIKIEPED LDIIQVTVPD PSPTSEEMTD SMPGHLPSED SGYGMEMLTD
KGLSEDARPE ERPVEDSHGD VIRPLRKQVE LLFNTRYAKA IGISEPVKVP YSKFLMHPEE
LFVVGLPEGI SLRRPNCFGI AKLRKILEAS NSIQFVIKRP ELLTEGVKEP IMDSQERDSG
DPLVDESLKR QGFQENYDAR LSRIDIANTL REQVQDLFNK KYGEALGIKY PVQVPYKRIK
SNPGSVIIEG LPPGIPFRKP CTFGSQNLER ILAVADKIKF TVTRPFQGLI PKPDEDDANR
LGEKVILREQ VKELFNEKYG EALGLNRPVL VPYKLIRDSP DAVEVTGLPD DIPFRNPNTY
DIHRLEKILK AREHVRMVII NQLQPFAEIC NDAKVPAKDS SIPKRKRKRV SEGNSVSSSS
SSSSSSSSNP DSVASANQIS LVVKLHRFGL RHSSLWPSPL CLAGPSTLGC GPRGRGGTGL
*

mutated AA sequence

MALLGKRCDV PTNGCGPDRW NSAFTRKDEI ITSLVSALDS MCSALSKLNA EVACVAVHDE
SAFVVGTEKG RMFLNARKEL QSDFLRFCRG PPWKDPEAEH PKKVQRGEGG GRSLPRSSLE
HGSDVYLLRK MVEEVFDVLY SEALGRASVV PLPYERLLRE PGLLAVQGLP EGLAFRRPAE
YDPKALMAIL EHSHRIRFKL KRPLEDGGRD SKALVELNGV SLIPKGSRDC GLHGQAPKVP
PQDLPPTATS SSMASFLYST ALPNHAIREL KQEAPSCPLA PSDLGLSRPM PEPKATGAQD
FSDCCGQKPT GPGGPLIQNV HASKRILFSI VHDKSEKWDA FIKETEDINT LRECVQILFN
SRYAEALGLD HMVPVPYRKI ACDPEAVEIV GIPDKIPFKR PCTYGVPKLK RILEERHSIH
FIIKRMFDER IFTGNKFTKD TTKLEPASPP EDTSAEVSRA TVLDLAGNAR SDKGSMSEDC
GPGTSGELGG LRPIKIEPED LDIIQVTVPD PSPTSEEMTD SMPGHLPSED SGYGMEMLTD
KGLSEDARPE ERPVEDSHGD VIRPLRKQVE LLFNTRYAKA IGISEPVKVP YSKFLMHPEE
LFVVGLPEGI SLRRPNCFGI AKLRKILEAS NSIQFVIKRP ELLTEGVKEP IVDSQERDSG
DPLVDESLKR QGFQENYDAR LSRIDIANTL REQVQDLFNK KYGEALGIKY PVQVPYKRIK
SNPGSVIIEG LPPGIPFRKP CTFGSQNLER ILAVADKIKF TVTRPFQGLI PKPDEDDANR
LGEKVILREQ VKELFNEKYG EALGLNRPVL VPYKLIRDSP DAVEVTGLPD DIPFRNPNTY
DIHRLEKILK AREHVRMVII NQLQPFAEIC NDAKVPAKDS SIPKRKRKRV SEGNSVSSSS
SSSSSSSSNP DSVASANQIS LVVKLHRFGL RHSSLWPSPL CLAGPSTLGC GPRGRGGTGL
*

speed

1.15 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