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 3 transcript(s)...
Querying Taster for transcript #1: ENST00000370056
Querying Taster for transcript #2: ENST00000527011
Querying Taster for transcript #3: ENST00000371846
MT speed 0 s - this script 2.831627 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
VAV3	polymorphism_automatic	0.999083522569134	simple_aae		affected		T298S	single base exchange	rs7528153		show file
VAV3	polymorphism_automatic	0.999083522569134	simple_aae		affected		T298S	single base exchange	rs7528153		show file
VAV3	polymorphism_automatic	0.999083522569134	simple_aae		affected		T233S	single base exchange	rs7528153		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.000916477430865964 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM1612506)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:108307727T>AN/A show variant in all transcripts IGV

HGNC symbol

VAV3

Ensembl transcript ID

ENST00000370056

Genbank transcript ID

NM_006113

UniProt peptide

Q9UKW4

alteration type

single base exchange

alteration region

CDS

DNA changes

c.892A>T
cDNA.1167A>T
g.200040A>T

AA changes

T298S Score: 58 explain score(s)

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

298

frameshift

known variant

Reference ID: rs7528153

database	homozygous (A/A)	heterozygous	allele carriers
1000G	701	1141	1842
ExAC	22304	-11841	10463

known disease mutation at this position, please check HGMD for details (HGMD ID CM1612506)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.288	1
	1.359	1
(flanking)	2.219	1

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 increased	200038	wt: 0.39 / mu: 0.73	wt: TAGTTTAGACTACATTTCTAAGACAAAAGAAGATGTCAAAC mu: TAGTTTAGACTACATTTCTAAGTCAAAAGAAGATGTCAAAC	ctaa\|GACA
Acc increased	200037	wt: 0.24 / mu: 0.28	wt: CTAGTTTAGACTACATTTCTAAGACAAAAGAAGATGTCAAA mu: CTAGTTTAGACTACATTTCTAAGTCAAAAGAAGATGTCAAA	tcta\|AGAC
Donor marginally increased	200038	wt: 0.9667 / mu: 0.9731 (marginal change - not scored)	wt: TTCTAAGACAAAAGA mu: TTCTAAGTCAAAAGA	CTAA\|gaca
Donor marginally increased	200043	wt: 0.9945 / mu: 0.9953 (marginal change - not scored)	wt: AGACAAAAGAAGATG mu: AGTCAAAAGAAGATG	ACAA\|aaga
Donor increased	200033	wt: 0.48 / mu: 0.93	wt: TACATTTCTAAGACA mu: TACATTTCTAAGTCA	CATT\|tcta

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

298

mutated

all conserved

298

Ptroglodytes

all identical

ENSPTRG00000001024

298

Mmulatta

all identical

ENSMMUG00000019714

298

Fcatus

all identical

ENSFCAG00000001191

272

Mmusculus

all identical

ENSMUSG00000033721

298

Ggallus

all identical

ENSGALG00000001915

230

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

not conserved

FBgn0040068

530

Celegans

all identical

C35B8.2

364

Xtropicalis

all identical

ENSXETG00000009944

298

protein features

start (aa)	end (aa)	feature	details
192	371	DOMAIN	DH.	lost
400	502	DOMAIN	PH.	might get lost (downstream of altered splice site)
429	429	CONFLICT	V -> A (in Ref. 2; AAD20348).	might get lost (downstream of altered splice site)
513	562	ZN_FING	Phorbol-ester/DAG-type.	might get lost (downstream of altered splice site)
560	847	REGION	Sufficient for interaction with ROS1.	might get lost (downstream of altered splice site)
592	660	DOMAIN	SH3 1.	might get lost (downstream of altered splice site)
672	766	DOMAIN	SH2.	might get lost (downstream of altered splice site)
786	786	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
788	847	DOMAIN	SH3 2.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2544 / 2544

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

848 / 848

position of stopcodon in wt / mu cDNA

2819 / 2819

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

276 / 276

chromosome

strand

-1

last intron/exon boundary

2778

theoretical NMD boundary in CDS

2452

length of CDS

2544

coding sequence (CDS) position

892

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

1167

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

200040

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

108307727

original gDNA sequence snippet

GTTTAGACTACATTTCTAAGACAAAAGAAGATGTCAAACTG

altered gDNA sequence snippet

GTTTAGACTACATTTCTAAGTCAAAAGAAGATGTCAAACTG

original cDNA sequence snippet

GTTTAGACTACATTTCTAAGACAAAAGAAGATGTCAAACTG

altered cDNA sequence snippet

GTTTAGACTACATTTCTAAGTCAAAAGAAGATGTCAAACTG

wildtype AA sequence

MEPWKQCAQW LIHCKVLPTN HRVTWDSAQV FDLAQTLRDG VLLCQLLNNL RAHSINLKEI
NLRPQMSQFL CLKNIRTFLT ACCETFGMRK SELFEAFDLF DVRDFGKVIE TLSRLSRTPI
ALATGIRPFP TEESINDEDI YKGLPDLIDE TLVEDEEDLY DCVYGEDEGG EVYEDLMKAE
EAHQPKCPEN DIRSCCLAEI KQTEEKYTET LESIEKYFMA PLKRFLTAAE FDSVFINIPE
LVKLHRNLMQ EIHDSIVNKN DQNLYQVFIN YKERLVIYGQ YCSGVESAIS SLDYISKTKE
DVKLKLEECS KRANNGKFTL RDLLVVPMQR VLKYHLLLQE LVKHTTDPTE KANLKLALDA
MKDLAQYVNE VKRDNETLRE IKQFQLSIEN LNQPVLLFGR PQGDGEIRIT TLDKHTKQER
HIFLFDLAVI VCKRKGDNYE MKEIIDLQQY KIANNPTTDK ENKKWSYGFY LIHTQGQNGL
EFYCKTKDLK KKWLEQFEMA LSNIRPDYAD SNFHDFKMHT FTRVTSCKVC QMLLRGTFYQ
GYLCFKCGAR AHKECLGRVD NCGRVNSGEQ GTLKLPEKRT NGLRRTPKQV DPGLPKMQVI
RNYSGTPPPA LHEGPPLQLQ AGDTVELLKG DAHSLFWQGR NLASGEVGFF PSDAVKPCPC
VPKPVDYSCQ PWYAGAMERL QAETELINRV NSTYLVRHRT KESGEYAISI KYNNEAKHIK
ILTRDGFFHI AENRKFKSLM ELVEYYKHHS LKEGFRTLDT TLQFPYKEPE HSAGQRGNRA
GNSLLSPKVL GIAIARYDFC ARDMRELSLL KGDVVKIYTK MSANGWWRGE VNGRVGWFPS
TYVEEDE*

mutated AA sequence

MEPWKQCAQW LIHCKVLPTN HRVTWDSAQV FDLAQTLRDG VLLCQLLNNL RAHSINLKEI
NLRPQMSQFL CLKNIRTFLT ACCETFGMRK SELFEAFDLF DVRDFGKVIE TLSRLSRTPI
ALATGIRPFP TEESINDEDI YKGLPDLIDE TLVEDEEDLY DCVYGEDEGG EVYEDLMKAE
EAHQPKCPEN DIRSCCLAEI KQTEEKYTET LESIEKYFMA PLKRFLTAAE FDSVFINIPE
LVKLHRNLMQ EIHDSIVNKN DQNLYQVFIN YKERLVIYGQ YCSGVESAIS SLDYISKSKE
DVKLKLEECS KRANNGKFTL RDLLVVPMQR VLKYHLLLQE LVKHTTDPTE KANLKLALDA
MKDLAQYVNE VKRDNETLRE IKQFQLSIEN LNQPVLLFGR PQGDGEIRIT TLDKHTKQER
HIFLFDLAVI VCKRKGDNYE MKEIIDLQQY KIANNPTTDK ENKKWSYGFY LIHTQGQNGL
EFYCKTKDLK KKWLEQFEMA LSNIRPDYAD SNFHDFKMHT FTRVTSCKVC QMLLRGTFYQ
GYLCFKCGAR AHKECLGRVD NCGRVNSGEQ GTLKLPEKRT NGLRRTPKQV DPGLPKMQVI
RNYSGTPPPA LHEGPPLQLQ AGDTVELLKG DAHSLFWQGR NLASGEVGFF PSDAVKPCPC
VPKPVDYSCQ PWYAGAMERL QAETELINRV NSTYLVRHRT KESGEYAISI KYNNEAKHIK
ILTRDGFFHI AENRKFKSLM ELVEYYKHHS LKEGFRTLDT TLQFPYKEPE HSAGQRGNRA
GNSLLSPKVL GIAIARYDFC ARDMRELSLL KGDVVKIYTK MSANGWWRGE VNGRVGWFPS
TYVEEDE*

speed

0.39 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: 0.000916477430865964 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM1612506)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:108307727T>AN/A show variant in all transcripts IGV

HGNC symbol

VAV3

Ensembl transcript ID

ENST00000527011

Genbank transcript ID

N/A

UniProt peptide

Q9UKW4

alteration type

single base exchange

alteration region

CDS

DNA changes

c.892A>T
cDNA.1032A>T
g.200040A>T

AA changes

T298S Score: 58 explain score(s)

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

298

frameshift

known variant

Reference ID: rs7528153

database	homozygous (A/A)	heterozygous	allele carriers
1000G	701	1141	1842
ExAC	22304	-11841	10463

known disease mutation at this position, please check HGMD for details (HGMD ID CM1612506)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.288	1
	1.359	1
(flanking)	2.219	1

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 increased	200038	wt: 0.39 / mu: 0.73	wt: TAGTTTAGACTACATTTCTAAGACAAAAGAAGATGTCAAAC mu: TAGTTTAGACTACATTTCTAAGTCAAAAGAAGATGTCAAAC	ctaa\|GACA
Acc increased	200037	wt: 0.24 / mu: 0.28	wt: CTAGTTTAGACTACATTTCTAAGACAAAAGAAGATGTCAAA mu: CTAGTTTAGACTACATTTCTAAGTCAAAAGAAGATGTCAAA	tcta\|AGAC
Donor marginally increased	200038	wt: 0.9667 / mu: 0.9731 (marginal change - not scored)	wt: TTCTAAGACAAAAGA mu: TTCTAAGTCAAAAGA	CTAA\|gaca
Donor marginally increased	200043	wt: 0.9945 / mu: 0.9953 (marginal change - not scored)	wt: AGACAAAAGAAGATG mu: AGTCAAAAGAAGATG	ACAA\|aaga
Donor increased	200033	wt: 0.48 / mu: 0.93	wt: TACATTTCTAAGACA mu: TACATTTCTAAGTCA	CATT\|tcta

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

298

mutated

all conserved

298

Ptroglodytes

all identical

ENSPTRG00000001024

298

Mmulatta

all identical

ENSMMUG00000019714

298

Fcatus

all identical

ENSFCAG00000001191

272

Mmusculus

all identical

ENSMUSG00000033721

298

Ggallus

all identical

ENSGALG00000001915

230

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

not conserved

FBgn0040068

530

Celegans

all identical

C35B8.2

364

Xtropicalis

all identical

ENSXETG00000009944

298

protein features

start (aa)	end (aa)	feature	details
192	371	DOMAIN	DH.	lost
400	502	DOMAIN	PH.	might get lost (downstream of altered splice site)
429	429	CONFLICT	V -> A (in Ref. 2; AAD20348).	might get lost (downstream of altered splice site)
513	562	ZN_FING	Phorbol-ester/DAG-type.	might get lost (downstream of altered splice site)
560	847	REGION	Sufficient for interaction with ROS1.	might get lost (downstream of altered splice site)
592	660	DOMAIN	SH3 1.	might get lost (downstream of altered splice site)
672	766	DOMAIN	SH2.	might get lost (downstream of altered splice site)
786	786	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
788	847	DOMAIN	SH3 2.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2628 / 2628

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

876 / 876

position of stopcodon in wt / mu cDNA

2768 / 2768

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

141 / 141

chromosome

strand

-1

last intron/exon boundary

2727

theoretical NMD boundary in CDS

2536

length of CDS

2628

coding sequence (CDS) position

892

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

1032

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

200040

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

108307727

original gDNA sequence snippet

GTTTAGACTACATTTCTAAGACAAAAGAAGATGTCAAACTG

altered gDNA sequence snippet

GTTTAGACTACATTTCTAAGTCAAAAGAAGATGTCAAACTG

original cDNA sequence snippet

GTTTAGACTACATTTCTAAGACAAAAGAAGATGTCAAACTG

altered cDNA sequence snippet

GTTTAGACTACATTTCTAAGTCAAAAGAAGATGTCAAACTG

wildtype AA sequence

MEPWKQCAQW LIHCKVLPTN HRVTWDSAQV FDLAQTLRDG VLLCQLLNNL RAHSINLKEI
NLRPQMSQFL CLKNIRTFLT ACCETFGMRK SELFEAFDLF DVRDFGKVIE TLSRLSRTPI
ALATGIRPFP TEESINDEDI YKGLPDLIDE TLVEDEEDLY DCVYGEDEGG EVYEDLMKAE
EAHQPKCPEN DIRSCCLAEI KQTEEKYTET LESIEKYFMA PLKRFLTAAE FDSVFINIPE
LVKLHRNLMQ EIHDSIVNKN DQNLYQVFIN YKERLVIYGQ YCSGVESAIS SLDYISKTKE
DVKLKLEECS KRANNGKFTL RDLLVVPMQR VLKYHLLLQE LVKHTTDPTE KANLKLALDA
MKDLAQYVNE VKRDNETLRE IKQFQLSIEN LNQPVLLFGR PQGDGEIRIT TLDKHTKQER
HIFLFDLAVI VCKRKGDNYE MKEIIDLQQY KIANNPTTDK ENKKWSYGFY LIHTQGQNGL
EFYCKTKDLK KKWLEQFEMA LSNIRPDYAD SNFHDFKMHT FTRVTSCKVC QMLLRGTFYQ
GYLCFKCGAR AHKECLGRVD NCGRVNSGEQ GTLKLPEKRT NGLRRTPKQV DPGLPKMQVI
RNYSGTPPPA LHEGPPLQLQ AGDTVELLKG DAHSLFWQGR NLASGEVGFF PSDAVKPCPC
VPKPVDYSCQ PWYAGAMERL QAETELINRV NSTYLVRHRT KESGEYAISI KYNNEAKHIK
ILTRDGFFHI AENRKFKSLM ELVEYYKHHS LKEGFRTLDT TLQFPYKEPE HSAGQRGNRA
GNSSPSLFCG FSFVTPPDYS FVPPSSTPFW SVLSPKVLGI AIARYDFCAR DMRELSLLKG
DVVKIYTKMS ANGWWRGEVN GRVGWFPSTY VEEDE*

mutated AA sequence

MEPWKQCAQW LIHCKVLPTN HRVTWDSAQV FDLAQTLRDG VLLCQLLNNL RAHSINLKEI
NLRPQMSQFL CLKNIRTFLT ACCETFGMRK SELFEAFDLF DVRDFGKVIE TLSRLSRTPI
ALATGIRPFP TEESINDEDI YKGLPDLIDE TLVEDEEDLY DCVYGEDEGG EVYEDLMKAE
EAHQPKCPEN DIRSCCLAEI KQTEEKYTET LESIEKYFMA PLKRFLTAAE FDSVFINIPE
LVKLHRNLMQ EIHDSIVNKN DQNLYQVFIN YKERLVIYGQ YCSGVESAIS SLDYISKSKE
DVKLKLEECS KRANNGKFTL RDLLVVPMQR VLKYHLLLQE LVKHTTDPTE KANLKLALDA
MKDLAQYVNE VKRDNETLRE IKQFQLSIEN LNQPVLLFGR PQGDGEIRIT TLDKHTKQER
HIFLFDLAVI VCKRKGDNYE MKEIIDLQQY KIANNPTTDK ENKKWSYGFY LIHTQGQNGL
EFYCKTKDLK KKWLEQFEMA LSNIRPDYAD SNFHDFKMHT FTRVTSCKVC QMLLRGTFYQ
GYLCFKCGAR AHKECLGRVD NCGRVNSGEQ GTLKLPEKRT NGLRRTPKQV DPGLPKMQVI
RNYSGTPPPA LHEGPPLQLQ AGDTVELLKG DAHSLFWQGR NLASGEVGFF PSDAVKPCPC
VPKPVDYSCQ PWYAGAMERL QAETELINRV NSTYLVRHRT KESGEYAISI KYNNEAKHIK
ILTRDGFFHI AENRKFKSLM ELVEYYKHHS LKEGFRTLDT TLQFPYKEPE HSAGQRGNRA
GNSSPSLFCG FSFVTPPDYS FVPPSSTPFW SVLSPKVLGI AIARYDFCAR DMRELSLLKG
DVVKIYTKMS ANGWWRGEVN GRVGWFPSTY VEEDE*

speed

0.40 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.000916477430865964 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM1612506)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:108307727T>AN/A show variant in all transcripts IGV

HGNC symbol

VAV3

Ensembl transcript ID

ENST00000371846

Genbank transcript ID

N/A

UniProt peptide

Q9UKW4

alteration type

single base exchange

alteration region

CDS

DNA changes

c.697A>T
cDNA.876A>T
g.200040A>T

AA changes

T233S Score: 58 explain score(s)

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

233

frameshift

known variant

Reference ID: rs7528153

database	homozygous (A/A)	heterozygous	allele carriers
1000G	701	1141	1842
ExAC	22304	-11841	10463

known disease mutation at this position, please check HGMD for details (HGMD ID CM1612506)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.288	1
	1.359	1
(flanking)	2.219	1

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 increased	200038	wt: 0.39 / mu: 0.73	wt: TAGTTTAGACTACATTTCTAAGACAAAAGAAGATGTCAAAC mu: TAGTTTAGACTACATTTCTAAGTCAAAAGAAGATGTCAAAC	ctaa\|GACA
Acc increased	200037	wt: 0.24 / mu: 0.28	wt: CTAGTTTAGACTACATTTCTAAGACAAAAGAAGATGTCAAA mu: CTAGTTTAGACTACATTTCTAAGTCAAAAGAAGATGTCAAA	tcta\|AGAC
Donor marginally increased	200038	wt: 0.9667 / mu: 0.9731 (marginal change - not scored)	wt: TTCTAAGACAAAAGA mu: TTCTAAGTCAAAAGA	CTAA\|gaca
Donor marginally increased	200043	wt: 0.9945 / mu: 0.9953 (marginal change - not scored)	wt: AGACAAAAGAAGATG mu: AGTCAAAAGAAGATG	ACAA\|aaga
Donor increased	200033	wt: 0.48 / mu: 0.93	wt: TACATTTCTAAGACA mu: TACATTTCTAAGTCA	CATT\|tcta

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

233

mutated

all conserved

233

Ptroglodytes

all identical

ENSPTRG00000001024

298

Mmulatta

all identical

ENSMMUG00000019714

298

Fcatus

all identical

ENSFCAG00000001191

272

Mmusculus

all identical

ENSMUSG00000033721

298

Ggallus

all identical

ENSGALG00000001915

230

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

not conserved

FBgn0040068

530

Celegans

all identical

C35B8.2

364

Xtropicalis

all identical

ENSXETG00000009944

298

protein features

start (aa)	end (aa)	feature	details
192	371	DOMAIN	DH.	lost
400	502	DOMAIN	PH.	might get lost (downstream of altered splice site)
429	429	CONFLICT	V -> A (in Ref. 2; AAD20348).	might get lost (downstream of altered splice site)
513	562	ZN_FING	Phorbol-ester/DAG-type.	might get lost (downstream of altered splice site)
560	847	REGION	Sufficient for interaction with ROS1.	might get lost (downstream of altered splice site)
592	660	DOMAIN	SH3 1.	might get lost (downstream of altered splice site)
672	766	DOMAIN	SH2.	might get lost (downstream of altered splice site)
786	786	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
788	847	DOMAIN	SH3 2.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1671 / 1671

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

557 / 557

position of stopcodon in wt / mu cDNA

1850 / 1850

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

180 / 180

chromosome

strand

-1

last intron/exon boundary

1762

theoretical NMD boundary in CDS

1532

length of CDS

1671

coding sequence (CDS) position

697

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

876

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

200040

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

108307727

original gDNA sequence snippet

GTTTAGACTACATTTCTAAGACAAAAGAAGATGTCAAACTG

altered gDNA sequence snippet

GTTTAGACTACATTTCTAAGTCAAAAGAAGATGTCAAACTG

original cDNA sequence snippet

GTTTAGACTACATTTCTAAGACAAAAGAAGATGTCAAACTG

altered cDNA sequence snippet

GTTTAGACTACATTTCTAAGTCAAAAGAAGATGTCAAACTG

wildtype AA sequence

MSQFLCLKNI RTFLTACCET FGMRKSELFE AFDLFDVRDF GKVIETLSRL SRTPIALATG
IRPFPTEESI NDEDIYKGLP DLIDETLVED EEDLYDCVYG EDEGGEVYED LMKAEEAHQP
KCPENDIRSC CLAEIKQTEE KYTETLESIE KYFMAPLKRF LTAAEFDSVF INIPELVKLH
RNLMQEIHDS IVNKNDQNLY QVFINYKERL VIYGQYCSGV ESAISSLDYI SKTKEDVKLK
LEECSKRANN GKFTLRDLLV VPMQRVLKYH LLLQELVKHT TDPTEKANLK LALDAMKDLA
QYVNEVKRDN ETLREIKQFQ LSIENLNQPV LLFGRPQGDG EIRITTLDKH TKQERHIFLF
DLAVIVCKRK GDNYEMKEII DLQQYKIANN PTTDKENKKW SYGFYLIHTQ GQNGLEFYCK
TKDLKKKWLE QFEMALSNIR PDYADSNFHD FKMHTFTRVT SCKVCQMLLR GTFYQGYLCF
KCGARAHKEC LGRVDNCGRV NSGEQGTLKL PEKRTNGLRR TPKQVDPDVP CLLHFFISMA
PATRSIVKSQ KKNKKF*

mutated AA sequence

MSQFLCLKNI RTFLTACCET FGMRKSELFE AFDLFDVRDF GKVIETLSRL SRTPIALATG
IRPFPTEESI NDEDIYKGLP DLIDETLVED EEDLYDCVYG EDEGGEVYED LMKAEEAHQP
KCPENDIRSC CLAEIKQTEE KYTETLESIE KYFMAPLKRF LTAAEFDSVF INIPELVKLH
RNLMQEIHDS IVNKNDQNLY QVFINYKERL VIYGQYCSGV ESAISSLDYI SKSKEDVKLK
LEECSKRANN GKFTLRDLLV VPMQRVLKYH LLLQELVKHT TDPTEKANLK LALDAMKDLA
QYVNEVKRDN ETLREIKQFQ LSIENLNQPV LLFGRPQGDG EIRITTLDKH TKQERHIFLF
DLAVIVCKRK GDNYEMKEII DLQQYKIANN PTTDKENKKW SYGFYLIHTQ GQNGLEFYCK
TKDLKKKWLE QFEMALSNIR PDYADSNFHD FKMHTFTRVT SCKVCQMLLR GTFYQGYLCF
KCGARAHKEC LGRVDNCGRV NSGEQGTLKL PEKRTNGLRR TPKQVDPDVP CLLHFFISMA
PATRSIVKSQ KKNKKF*

speed

0.34 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems