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: ENST00000361413
Querying Taster for transcript #2: ENST00000572370
Querying Taster for transcript #3: ENST00000542606
Querying Taster for transcript #4: ENST00000589033
MT speed 0 s - this script 3.790924 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
KIAA0753	polymorphism_automatic	6.91973728983442e-07	simple_aae				Q597R	single base exchange	rs1443417		show file
KIAA0753	polymorphism_automatic	6.91973728983442e-07	simple_aae				Q597R	single base exchange	rs1443417		show file
KIAA0753	polymorphism_automatic	6.91973728983442e-07	simple_aae				Q896R	single base exchange	rs1443417		show file
KIAA0753	polymorphism_automatic	6.91973728983442e-07	simple_aae				Q352R	single base exchange	rs1443417		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999308026271 (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)

chr17:6493198T>CN/A show variant in all transcripts IGV

HGNC symbol

KIAA0753

Ensembl transcript ID

ENST00000572370

Genbank transcript ID

N/A

UniProt peptide

Q2KHM9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1790A>G
cDNA.2688A>G
g.51050A>G

AA changes

Q597R Score: 43 explain score(s)

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

597

frameshift

known variant

Reference ID: rs1443417

database	homozygous (C/C)	heterozygous	allele carriers
1000G	1219	1012	2231
ExAC	23868	-14969	8899

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.06	0.873
	0.41	0.897
(flanking)	0.79	0.936

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	51043	wt: 0.9857 / mu: 0.9903 (marginal change - not scored)	wt: CTCCCCTCTTTGTCCCACCGGGTATGCAGCACAGCATCGGT mu: CTCCCCTCTTTGTCCCACCGGGTATGCGGCACAGCATCGGT	ccgg\|GTAT
Acc marginally increased	51042	wt: 0.9005 / mu: 0.9326 (marginal change - not scored)	wt: GCTCCCCTCTTTGTCCCACCGGGTATGCAGCACAGCATCGG mu: GCTCCCCTCTTTGTCCCACCGGGTATGCGGCACAGCATCGG	accg\|GGTA
Acc marginally increased	51040	wt: 0.7907 / mu: 0.8296 (marginal change - not scored)	wt: GAGCTCCCCTCTTTGTCCCACCGGGTATGCAGCACAGCATC mu: GAGCTCCCCTCTTTGTCCCACCGGGTATGCGGCACAGCATC	ccac\|CGGG

distance from splice site

100

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

597

mutated

all conserved

597

Ptroglodytes

no homologue

Mmulatta

all conserved

ENSMMUG00000003784

904

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000020807

888

Ggallus

not conserved

ENSGALG00000006011

892

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000031158

851

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2007 / 2007

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

669 / 669

position of stopcodon in wt / mu cDNA

2905 / 2905

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

899 / 899

chromosome

strand

-1

last intron/exon boundary

2788

theoretical NMD boundary in CDS

1839

length of CDS

2007

coding sequence (CDS) position

1790

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

2688

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

51050

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

6493198

original gDNA sequence snippet

CTTTGTCCCACCGGGTATGCAGCACAGCATCGGTGACTACT

altered gDNA sequence snippet

CTTTGTCCCACCGGGTATGCGGCACAGCATCGGTGACTACT

original cDNA sequence snippet

CTTTGTCCCACCGGGTATGCAGCACAGCATCGGTGACTACT

altered cDNA sequence snippet

CTTTGTCCCACCGGGTATGCGGCACAGCATCGGTGACTACT

wildtype AA sequence

MSKLAAAHRG AIRALQMFVT QFTDRGEHPL PARCKELGSL IRQLSLCSVK LDADPSVPDV
VIDILQQIEA LESLLEKKLS PKKVKKCFSE IRSRFPIGSQ KALERWPSTS PKGERRPLTA
KDTFPQETSR PSVAKQLLAD KYQPDTELPE TQRLQSELDV LDADIVLEEG PFILDQSASF
KDEVLAVAKT KAGKKKPVTE NVPFRKKDTL APARQQGLRK AERGRQSQPH SKSRVQQTTV
SSRLKMNRQP VKDRKAPWIP PNPTSPPASP KCAAWLKVKT SPRDATKEPL QQEDPQEESH
LTGAVEHEAA RLAWLDAETS KRLKELEELK AKEIDSMQKQ RLDWLDAETS RRTKELNELK
AEEMYRLQQL SVSATHLADK VEEAVLDRLK PLLVKAQRVN STTEANIHLK DGSSVNTAKA
QPAQEVAAVD FESNNIRQLD DFLEDCASEL WAVTHAKILG SETLATVEDS KDSPDLEIMM
RRMEEMEKYQ ESVRQRYNKI AYADPRLWMQ EENNDQKISA ISEKPLSPHP IRITKTVDRK
DPAVNIMLER PCNGNSLDES VGTEEGSEKR EAPLLSLAED SQQKEGRAPL FVPPGMQHSI
GDYCSRFEQY LRIISHEAVG SFNPWLIAES FSEELVDEAL GAVAAELQDM CEDYAEAVFT
SEFLEAAT*

mutated AA sequence

MSKLAAAHRG AIRALQMFVT QFTDRGEHPL PARCKELGSL IRQLSLCSVK LDADPSVPDV
VIDILQQIEA LESLLEKKLS PKKVKKCFSE IRSRFPIGSQ KALERWPSTS PKGERRPLTA
KDTFPQETSR PSVAKQLLAD KYQPDTELPE TQRLQSELDV LDADIVLEEG PFILDQSASF
KDEVLAVAKT KAGKKKPVTE NVPFRKKDTL APARQQGLRK AERGRQSQPH SKSRVQQTTV
SSRLKMNRQP VKDRKAPWIP PNPTSPPASP KCAAWLKVKT SPRDATKEPL QQEDPQEESH
LTGAVEHEAA RLAWLDAETS KRLKELEELK AKEIDSMQKQ RLDWLDAETS RRTKELNELK
AEEMYRLQQL SVSATHLADK VEEAVLDRLK PLLVKAQRVN STTEANIHLK DGSSVNTAKA
QPAQEVAAVD FESNNIRQLD DFLEDCASEL WAVTHAKILG SETLATVEDS KDSPDLEIMM
RRMEEMEKYQ ESVRQRYNKI AYADPRLWMQ EENNDQKISA ISEKPLSPHP IRITKTVDRK
DPAVNIMLER PCNGNSLDES VGTEEGSEKR EAPLLSLAED SQQKEGRAPL FVPPGMRHSI
GDYCSRFEQY LRIISHEAVG SFNPWLIAES FSEELVDEAL GAVAAELQDM CEDYAEAVFT
SEFLEAAT*

speed

0.87 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: 0.999999308026271 (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)

chr17:6493198T>CN/A show variant in all transcripts IGV

HGNC symbol

KIAA0753

Ensembl transcript ID

ENST00000542606

Genbank transcript ID

N/A

UniProt peptide

Q2KHM9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1790A>G
cDNA.2650A>G
g.51050A>G

AA changes

Q597R Score: 43 explain score(s)

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

597

frameshift

known variant

Reference ID: rs1443417

database	homozygous (C/C)	heterozygous	allele carriers
1000G	1219	1012	2231
ExAC	23868	-14969	8899

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.06	0.873
	0.41	0.897
(flanking)	0.79	0.936

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	51043	wt: 0.9857 / mu: 0.9903 (marginal change - not scored)	wt: CTCCCCTCTTTGTCCCACCGGGTATGCAGCACAGCATCGGT mu: CTCCCCTCTTTGTCCCACCGGGTATGCGGCACAGCATCGGT	ccgg\|GTAT
Acc marginally increased	51042	wt: 0.9005 / mu: 0.9326 (marginal change - not scored)	wt: GCTCCCCTCTTTGTCCCACCGGGTATGCAGCACAGCATCGG mu: GCTCCCCTCTTTGTCCCACCGGGTATGCGGCACAGCATCGG	accg\|GGTA
Acc marginally increased	51040	wt: 0.7907 / mu: 0.8296 (marginal change - not scored)	wt: GAGCTCCCCTCTTTGTCCCACCGGGTATGCAGCACAGCATC mu: GAGCTCCCCTCTTTGTCCCACCGGGTATGCGGCACAGCATC	ccac\|CGGG

distance from splice site

100

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

597

mutated

all conserved

597

Ptroglodytes

no homologue

Mmulatta

all conserved

ENSMMUG00000003784

904

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000020807

888

Ggallus

not conserved

ENSGALG00000006011

892

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000031158

851

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2007 / 2007

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

669 / 669

position of stopcodon in wt / mu cDNA

2867 / 2867

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

861 / 861

chromosome

strand

-1

last intron/exon boundary

2750

theoretical NMD boundary in CDS

1839

length of CDS

2007

coding sequence (CDS) position

1790

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

2650

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

51050

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

6493198

original gDNA sequence snippet

CTTTGTCCCACCGGGTATGCAGCACAGCATCGGTGACTACT

altered gDNA sequence snippet

CTTTGTCCCACCGGGTATGCGGCACAGCATCGGTGACTACT

original cDNA sequence snippet

CTTTGTCCCACCGGGTATGCAGCACAGCATCGGTGACTACT

altered cDNA sequence snippet

CTTTGTCCCACCGGGTATGCGGCACAGCATCGGTGACTACT

wildtype AA sequence

mutated AA sequence

MSKLAAAHRG AIRALQMFVT QFTDRGEHPL PARCKELGSL IRQLSLCSVK LDADPSVPDV
VIDILQQIEA LESLLEKKLS PKKVKKCFSE IRSRFPIGSQ KALERWPSTS PKGERRPLTA
KDTFPQETSR PSVAKQLLAD KYQPDTELPE TQRLQSELDV LDADIVLEEG PFILDQSASF
KDEVLAVAKT KAGKKKPVTE NVPFRKKDTL APARQQGLRK AERGRQSQPH SKSRVQQTTV
SSRLKMNRQP VKDRKAPWIP PNPTSPPASP KCAAWLKVKT SPRDATKEPL QQEDPQEESH
LTGAVEHEAA RLAWLDAETS KRLKELEELK AKEIDSMQKQ RLDWLDAETS RRTKELNELK
AEEMYRLQQL SVSATHLADK VEEAVLDRLK PLLVKAQRVN STTEANIHLK DGSSVNTAKA
QPAQEVAAVD FESNNIRQLD DFLEDCASEL WAVTHAKILG SETLATVEDS KDSPDLEIMM
RRMEEMEKYQ ESVRQRYNKI AYADPRLWMQ EENNDQKISA ISEKPLSPHP IRITKTVDRK
DPAVNIMLER PCNGNSLDES VGTEEGSEKR EAPLLSLAED SQQKEGRAPL FVPPGMRHSI
GDYCSRFEQY LRIISHEAVG SFNPWLIAES FSEELVDEAL GAVAAELQDM CEDYAEAVFT
SEFLEAAT*

speed

0.18 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999308026271 (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)

chr17:6493198T>CN/A show variant in all transcripts IGV

HGNC symbol

KIAA0753

Ensembl transcript ID

ENST00000361413

Genbank transcript ID

NM_014804

UniProt peptide

Q2KHM9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2687A>G
cDNA.3046A>G
g.51050A>G

AA changes

Q896R Score: 43 explain score(s)

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

896

frameshift

known variant

Reference ID: rs1443417

database	homozygous (C/C)	heterozygous	allele carriers
1000G	1219	1012	2231
ExAC	23868	-14969	8899

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.06	0.873
	0.41	0.897
(flanking)	0.79	0.936

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	51043	wt: 0.9857 / mu: 0.9903 (marginal change - not scored)	wt: CTCCCCTCTTTGTCCCACCGGGTATGCAGCACAGCATCGGT mu: CTCCCCTCTTTGTCCCACCGGGTATGCGGCACAGCATCGGT	ccgg\|GTAT
Acc marginally increased	51042	wt: 0.9005 / mu: 0.9326 (marginal change - not scored)	wt: GCTCCCCTCTTTGTCCCACCGGGTATGCAGCACAGCATCGG mu: GCTCCCCTCTTTGTCCCACCGGGTATGCGGCACAGCATCGG	accg\|GGTA
Acc marginally increased	51040	wt: 0.7907 / mu: 0.8296 (marginal change - not scored)	wt: GAGCTCCCCTCTTTGTCCCACCGGGTATGCAGCACAGCATC mu: GAGCTCCCCTCTTTGTCCCACCGGGTATGCGGCACAGCATC	ccac\|CGGG

distance from splice site

100

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

896

mutated

all conserved

896

Ptroglodytes

no homologue

Mmulatta

all conserved

ENSMMUG00000003784

904

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000020807

888

Ggallus

not conserved

ENSGALG00000006011

892

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000031158

855

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2904 / 2904

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

968 / 968

position of stopcodon in wt / mu cDNA

3263 / 3263

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

360 / 360

chromosome

strand

-1

last intron/exon boundary

3146

theoretical NMD boundary in CDS

2736

length of CDS

2904

coding sequence (CDS) position

2687

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

3046

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

51050

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

6493198

original gDNA sequence snippet

CTTTGTCCCACCGGGTATGCAGCACAGCATCGGTGACTACT

altered gDNA sequence snippet

CTTTGTCCCACCGGGTATGCGGCACAGCATCGGTGACTACT

original cDNA sequence snippet

CTTTGTCCCACCGGGTATGCAGCACAGCATCGGTGACTACT

altered cDNA sequence snippet

CTTTGTCCCACCGGGTATGCGGCACAGCATCGGTGACTACT

wildtype AA sequence

MGPGQPASTC VHLAPRTQLD GRSDPKVLQT QNQLQFNRNV PTHSSNLAIR YSCPHAIRIE
KLKHSYNESY HCKDADCRVG PDLGSSVSFS VISQERLSYA VHLARRDVKR RQFEKHIKEH
HLRSQPQSSQ KCGHTKYKIP DHRVERKESK SQAACQCSHQ PSKVEISSSG AKVYLYSSHP
GQSDLTVPNS PPTHDPGLQP HPRIGDHKNI SEQKSLLEVQ RLQKELSSCI HKIEEVTKKD
RLEEALDPDE ERRIRIRRQE QAARSARMLY VLQQQVKEIQ EELDKLSPHK IKHTKKSWAM
SKLAAAHRGA IRALQMFVTQ FTDRGEHPLP ARCKELGSLI RQLSLCSVKL DADPSVPDVV
IDILQQIEAL ESLLEKKLSP KKVKKCFSEI RSRFPIGSQK ALERWPSTSP KGERRPLTAK
DTFPQETSRP SVAKQLLADK YQPDTELPET QRLQSELDVL DADIVLEEGP FILDQSASFK
DEVLAVAKTK AGKKKPVTEN VPFRKKDTLA PARQQGLRKA ERGRQSQPHS KSRVQQTTVS
SRLKMNRQPV KDRKAPWIPP NPTSPPASPK CAAWLKVKTS PRDATKEPLQ QEDPQEESHL
TGAVEHEAAR LAWLDAETSK RLKELEELKA KEIDSMQKQR LDWLDAETSR RTKELNELKA
EEMYRLQQLS VSATHLADKV EEAVLDRLKP LLVKAQRVNS TTEANIHLKD GSSVNTAKAQ
PAQEVAAVDF ESNNIRQLDD FLEDCASELW AVTHAKILGS ETLATVEDSK DSPDLEIMMR
RMEEMEKYQE SVRQRYNKIA YADPRLWMQE ENNDQKISAI SEKPLSPHPI RITKTVDRKD
PAVNIMLERP CNGNSLDESV GTEEGSEKRE APLLSLAEDS QQKEGRAPLF VPPGMQHSIG
DYCSRFEQYL RIISHEAVGS FNPWLIAESF SEELVDEALG AVAAELQDMC EDYAEAVFTS
EFLEAAT*

mutated AA sequence

MGPGQPASTC VHLAPRTQLD GRSDPKVLQT QNQLQFNRNV PTHSSNLAIR YSCPHAIRIE
KLKHSYNESY HCKDADCRVG PDLGSSVSFS VISQERLSYA VHLARRDVKR RQFEKHIKEH
HLRSQPQSSQ KCGHTKYKIP DHRVERKESK SQAACQCSHQ PSKVEISSSG AKVYLYSSHP
GQSDLTVPNS PPTHDPGLQP HPRIGDHKNI SEQKSLLEVQ RLQKELSSCI HKIEEVTKKD
RLEEALDPDE ERRIRIRRQE QAARSARMLY VLQQQVKEIQ EELDKLSPHK IKHTKKSWAM
SKLAAAHRGA IRALQMFVTQ FTDRGEHPLP ARCKELGSLI RQLSLCSVKL DADPSVPDVV
IDILQQIEAL ESLLEKKLSP KKVKKCFSEI RSRFPIGSQK ALERWPSTSP KGERRPLTAK
DTFPQETSRP SVAKQLLADK YQPDTELPET QRLQSELDVL DADIVLEEGP FILDQSASFK
DEVLAVAKTK AGKKKPVTEN VPFRKKDTLA PARQQGLRKA ERGRQSQPHS KSRVQQTTVS
SRLKMNRQPV KDRKAPWIPP NPTSPPASPK CAAWLKVKTS PRDATKEPLQ QEDPQEESHL
TGAVEHEAAR LAWLDAETSK RLKELEELKA KEIDSMQKQR LDWLDAETSR RTKELNELKA
EEMYRLQQLS VSATHLADKV EEAVLDRLKP LLVKAQRVNS TTEANIHLKD GSSVNTAKAQ
PAQEVAAVDF ESNNIRQLDD FLEDCASELW AVTHAKILGS ETLATVEDSK DSPDLEIMMR
RMEEMEKYQE SVRQRYNKIA YADPRLWMQE ENNDQKISAI SEKPLSPHPI RITKTVDRKD
PAVNIMLERP CNGNSLDESV GTEEGSEKRE APLLSLAEDS QQKEGRAPLF VPPGMRHSIG
DYCSRFEQYL RIISHEAVGS FNPWLIAESF SEELVDEALG AVAAELQDMC EDYAEAVFTS
EFLEAAT*

speed

0.21 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999308026271 (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)

chr17:6493198T>CN/A show variant in all transcripts IGV

HGNC symbol

KIAA0753

Ensembl transcript ID

ENST00000589033

Genbank transcript ID

N/A

UniProt peptide

Q2KHM9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1055A>G
cDNA.1194A>G
g.51050A>G

AA changes

Q352R Score: 43 explain score(s)

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

352

frameshift

known variant

Reference ID: rs1443417

database	homozygous (C/C)	heterozygous	allele carriers
1000G	1219	1012	2231
ExAC	23868	-14969	8899

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.06	0.873
	0.41	0.897
(flanking)	0.79	0.936

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	51043	wt: 0.9857 / mu: 0.9903 (marginal change - not scored)	wt: CTCCCCTCTTTGTCCCACCGGGTATGCAGCACAGCATCGGT mu: CTCCCCTCTTTGTCCCACCGGGTATGCGGCACAGCATCGGT	ccgg\|GTAT
Acc marginally increased	51042	wt: 0.9005 / mu: 0.9326 (marginal change - not scored)	wt: GCTCCCCTCTTTGTCCCACCGGGTATGCAGCACAGCATCGG mu: GCTCCCCTCTTTGTCCCACCGGGTATGCGGCACAGCATCGG	accg\|GGTA
Acc marginally increased	51040	wt: 0.7907 / mu: 0.8296 (marginal change - not scored)	wt: GAGCTCCCCTCTTTGTCCCACCGGGTATGCAGCACAGCATC mu: GAGCTCCCCTCTTTGTCCCACCGGGTATGCGGCACAGCATC	ccac\|CGGG

distance from splice site

100

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

352

mutated

all conserved

352

Ptroglodytes

no homologue

Mmulatta

all conserved

ENSMMUG00000003784

904

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000020807

888

Ggallus

not conserved

ENSGALG00000006011

892

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000031158

851

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1272 / 1272

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

424 / 424

position of stopcodon in wt / mu cDNA

1411 / 1411

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

140 / 140

chromosome

strand

-1

last intron/exon boundary

1294

theoretical NMD boundary in CDS

1104

length of CDS

1272

coding sequence (CDS) position

1055

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

1194

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

51050

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

6493198

original gDNA sequence snippet

CTTTGTCCCACCGGGTATGCAGCACAGCATCGGTGACTACT

altered gDNA sequence snippet

CTTTGTCCCACCGGGTATGCGGCACAGCATCGGTGACTACT

original cDNA sequence snippet

CTTTGTCCCACCGGGTATGCAGCACAGCATCGGTGACTACT

altered cDNA sequence snippet

CTTTGTCCCACCGGGTATGCGGCACAGCATCGGTGACTACT

wildtype AA sequence

MNRQPVKDRK APWIPPNPTS PPASPKCAAW LKVKTSPRDA TKEPLQQEDP QEESHLTGAV
EHEAARLAWL DAETSKRLKE LEELKAKEID SMQKQRLDWL DAETSRRTKE LNELKAEEMY
RLQQLSVSAT HLADKVEEAV LDRLKPLLVK AQRVNSTTEA NIHLKDGSSV NTAKAQPAQE
VAAVDFESNN IRQLDDFLED CASELWAVTH AKILGSETLA TVEDSKDSPD LEIMMRRMEE
MEKYQESVRQ RYNKIAYADP RLWMQEENND QKISAISEKP LSPHPIRITK TVDRKDPAVN
IMLERPCNGN SLDESVGTEE GSEKREAPLL SLAEDSQQKE GRAPLFVPPG MQHSIGDYCS
RFEQYLRIIS HEAVGSFNPW LIAESFSEEL VDEALGAVAA ELQDMCEDYA EAVFTSEFLE
AAT*

mutated AA sequence

MNRQPVKDRK APWIPPNPTS PPASPKCAAW LKVKTSPRDA TKEPLQQEDP QEESHLTGAV
EHEAARLAWL DAETSKRLKE LEELKAKEID SMQKQRLDWL DAETSRRTKE LNELKAEEMY
RLQQLSVSAT HLADKVEEAV LDRLKPLLVK AQRVNSTTEA NIHLKDGSSV NTAKAQPAQE
VAAVDFESNN IRQLDDFLED CASELWAVTH AKILGSETLA TVEDSKDSPD LEIMMRRMEE
MEKYQESVRQ RYNKIAYADP RLWMQEENND QKISAISEKP LSPHPIRITK TVDRKDPAVN
IMLERPCNGN SLDESVGTEE GSEKREAPLL SLAEDSQQKE GRAPLFVPPG MRHSIGDYCS
RFEQYLRIIS HEAVGSFNPW LIAESFSEEL VDEALGAVAA ELQDMCEDYA EAVFTSEFLE
AAT*

speed

0.71 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