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: ENST00000333229
Querying Taster for transcript #2: ENST00000342449
Querying Taster for transcript #3: ENST00000380800
Querying Taster for transcript #4: ENST00000341322
MT speed 0 s - this script 3.356257 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
BRWD1	polymorphism_automatic	0.015075658573529	simple_aae				Q83E	single base exchange	rs2056844		show file
BRWD1	polymorphism_automatic	0.015075658573529	simple_aae				Q83E	single base exchange	rs2056844		show file
BRWD1	polymorphism_automatic	0.015075658573529	simple_aae				Q83E	single base exchange	rs2056844		show file
BRWD1	polymorphism_automatic	0.015075658573529	simple_aae				Q83E	single base exchange	rs2056844		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.984924341426471 (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)

chr21:40670460G>CN/A show variant in all transcripts IGV

HGNC symbol

BRWD1

Ensembl transcript ID

ENST00000333229

Genbank transcript ID

NM_018963

UniProt peptide

Q9NSI6

alteration type

single base exchange

alteration region

CDS

DNA changes

c.247C>G
cDNA.575C>G
g.23026C>G

AA changes

Q83E Score: 29 explain score(s)

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

frameshift

known variant

Reference ID: rs2056844

database	homozygous (C/C)	heterozygous	allele carriers
1000G	595	1206	1801
ExAC	14487	3793	18280

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.557	1
	1.163	1
(flanking)	0.485	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 marginally increased	23019	wt: 0.9619 / mu: 0.9716 (marginal change - not scored)	wt: GCTCCTGATCATCTTTTGCAAATCTGCCAGCGCATCGGTCC mu: GCTCCTGATCATCTTTTGCAAATCTGCGAGCGCATCGGTCC	gcaa\|ATCT

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 identical

ENSPTRG00000013912

Mmulatta

all identical

ENSMMUG00000008504

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000022914

Ggallus

all conserved

ENSGALG00000016065

Trubripes

no homologue

Drerio

no alignment

ENSDARG00000074747

n/a

Dmelanogaster

not conserved

FBgn0011785

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

6963 / 6963

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

2321 / 2321

position of stopcodon in wt / mu cDNA

7291 / 7291

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

329 / 329

chromosome

strand

-1

last intron/exon boundary

6900

theoretical NMD boundary in CDS

6521

length of CDS

6963

coding sequence (CDS) position

247

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

575

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

23026

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

40670460

original gDNA sequence snippet

ATCATCTTTTGCAAATCTGCCAGCGCATCGGTCCTATGTTG

altered gDNA sequence snippet

ATCATCTTTTGCAAATCTGCGAGCGCATCGGTCCTATGTTG

original cDNA sequence snippet

ATCATCTTTTGCAAATCTGCCAGCGCATCGGTCCTATGTTG

altered cDNA sequence snippet

ATCATCTTTTGCAAATCTGCGAGCGCATCGGTCCTATGTTG

wildtype AA sequence

MAEPSSARRP VPLIESELYF LIARYLSAGP CRRAAQVLVQ ELEQYQLLPK RLDWEGNEHN
RSYEELVLSN KHVAPDHLLQ ICQRIGPMLD KEIPPSISRV TSLLGAGRQS LLRTAKDCRH
TVWKGSAFAA LHRGRPPEMP VNYGSPPNLV EIHRGKQLTG CSTFSTAFPG TMYQHIKMHR
RILGHLSAVY CVAFDRTGHR IFTGSDDCLV KIWSTHNGRL LSTLRGHSAE ISDMAVNYEN
TMIAAGSCDK IIRVWCLRTC APVAVLQGHT GSITSLQFSP MAKGSQRYMV STGADGTVCF
WQWDLESLKF SPRPLKFTEK PRPGVQMLCS SFSVGGMFLA TGSTDHVIRM YFLGFEAPEK
IAELESHTDK VDSIQFCNNG DRFLSGSRDG TARIWRFEQL EWRSILLDMA TRISGDLSSE
EERFMKPKVT MIAWNQNDSI VVTAVNDHVL KVWNSYTGQL LHNLMGHADE VFVLETHPFD
SRIMLSAGHD GSIFIWDITK GTKMKHYFNM IEGQGHGAVF DCKFSQDGQH FACTDSHGHL
LIFGFGCSKP YEKIPDQMFF HTDYRPLIRD SNNYVLDEQT QQAPHLMPPP FLVDVDGNPH
PTKYQRLVPG RENSADEHLI PQLGYVATSD GEVIEQIISL QTNDNDERSP ESSILDGMIR
QLQQQQDQRM GADQDTIPRG LSNGEETPRR GFRRLSLDIQ SPPNIGLRRS GQVEGVRQMH
QNAPRSQIAT ERDLQAWKRR VVVPEVPLGI FRKLEDFRLE KGEEERNLYI IGRKRKTLQL
SHKSDSVVLV SQSRQRTCRR KYPNYGRRNR SWRELSSGNE SSSSVRHETS CDQSEGSGSS
EEDEWRSDRK SESYSESSSD SSSRYSDWTA DAGINLQPPL RTSCRRRITR FCSSSEDEIS
TENLSPPKRR RKRKKENKPK KENLRRMTPA ELANMEHLYE FHPPVWITDT TLRKSPFVPQ
MGDEVIYFRQ GHEAYIEAVR RNNIYELNPN KEPWRKMDLR DQELVKIVGI RYEVGPPTLC
CLKLAFIDPA TGKLMDKSFS IRYHDMPDVI DFLVLRQFYD EARQRNWQSC DRFRSIIDDA
WWFGTVLSQE PYQPQYPDSH FQCYIVRWDN TEIEKLSPWD MEPIPDNVDP PEELGASISV
TTDELEKLLY KPQAGEWGQK SRDEECDRII SGIDQLLNLD IAAAFAGPVD LCTYPKYCTV
VAYPTDLYTI RMRLVNRFYR RLSALVWEVR YIEHNARTFN EPESVIARSA KKITDQLLKF
IKNQHCTNIS ELSNTSENDE QNAEDLDDSD LPKTSSGRRR VHDGKKSIRA TNYVESNWKK
QCKELVNLIF QCEDSEPFRQ PVDLVEYPDY RDIIDTPMDF GTVRETLDAG NYDSPLEFCK
DIRLIFSNAK AYTPNKRSKI YSMTLRLSAL FEEKMKKISS DFKIGQKFNE KLRRSQRFKQ
RQNCKGDSQP NKSIRNLKPK RLKSQTKIIP ELVGSPTQST SSRTAYLGTH KTSAGISSGV
TSGDSSDSAE SSERRKRNRP ITNGSTLSES EVEDSLATSL SSSASSSSEE SKESSRARES
SSRSGLSRSS NLRVTRTRAA QRKTGPVSLA NGCGRKATRK RVYLSDSDNN SLETGEILKA
RAGNNRKVLR KCAAVAANKI KLMSDVEENS SSESVCSGRK LPHRNASAVA RKKLLHNSED
EQSLKSEIEE EELKDENQLL PVSSSHTAQS NVDESENRDS ESESDLRVAR KNWHANGYKS
HTPAPSKTKF LKIESSEEDS KSHDSDHACN RTAGPSTSVQ KLKAESISEE ADSEPGRSGG
RKYNTFHKNA SFFKKTKILS DSEDSESEEQ DREDGKCHKM EMNPISGNLN CDPIAMSQCS
SDHGCETDLD SDDDKIEKPN NFMKDSASQD NGLSRKISRK RVCSSDSDSS LQVVKKSSKA
RTGLLRITRR CAATAANKIK LMSDVEDVSL ENVHTRSKNG RKKPLHLACT TAKKKLSDCE
GSVHCEVPSE QYACEGKPPD PDSEGSTKVL SQALNGDSDS EDMLNSEHKH RHTNIHKIDA
PSKRKSSSVT SSGEDSKSHI PGSETDRTFS SESTLAQKAT AENNFEVELN YGLRRWNGRR
LRTYGKAPFS KTKVIHDSQE TAEKEVKRKR SHPELENVKI SETTGNSKFR PDTSSKSSDL
GSVTESDIDC TDNTKTKRRK TKGKAKVVRK EFVPRDREPN TKVRTCMHNQ KDAVQMPSET
LKAKMVPEKV PRRCATVAAN KIKIMSNLKE TISGPENVWI RKSSRKLPHR NASAAAKKKL
LNVYKEDDTT INSESEKELE DINRKMLFLR GFRSWKENAQ *

mutated AA sequence

MAEPSSARRP VPLIESELYF LIARYLSAGP CRRAAQVLVQ ELEQYQLLPK RLDWEGNEHN
RSYEELVLSN KHVAPDHLLQ ICERIGPMLD KEIPPSISRV TSLLGAGRQS LLRTAKDCRH
TVWKGSAFAA LHRGRPPEMP VNYGSPPNLV EIHRGKQLTG CSTFSTAFPG TMYQHIKMHR
RILGHLSAVY CVAFDRTGHR IFTGSDDCLV KIWSTHNGRL LSTLRGHSAE ISDMAVNYEN
TMIAAGSCDK IIRVWCLRTC APVAVLQGHT GSITSLQFSP MAKGSQRYMV STGADGTVCF
WQWDLESLKF SPRPLKFTEK PRPGVQMLCS SFSVGGMFLA TGSTDHVIRM YFLGFEAPEK
IAELESHTDK VDSIQFCNNG DRFLSGSRDG TARIWRFEQL EWRSILLDMA TRISGDLSSE
EERFMKPKVT MIAWNQNDSI VVTAVNDHVL KVWNSYTGQL LHNLMGHADE VFVLETHPFD
SRIMLSAGHD GSIFIWDITK GTKMKHYFNM IEGQGHGAVF DCKFSQDGQH FACTDSHGHL
LIFGFGCSKP YEKIPDQMFF HTDYRPLIRD SNNYVLDEQT QQAPHLMPPP FLVDVDGNPH
PTKYQRLVPG RENSADEHLI PQLGYVATSD GEVIEQIISL QTNDNDERSP ESSILDGMIR
QLQQQQDQRM GADQDTIPRG LSNGEETPRR GFRRLSLDIQ SPPNIGLRRS GQVEGVRQMH
QNAPRSQIAT ERDLQAWKRR VVVPEVPLGI FRKLEDFRLE KGEEERNLYI IGRKRKTLQL
SHKSDSVVLV SQSRQRTCRR KYPNYGRRNR SWRELSSGNE SSSSVRHETS CDQSEGSGSS
EEDEWRSDRK SESYSESSSD SSSRYSDWTA DAGINLQPPL RTSCRRRITR FCSSSEDEIS
TENLSPPKRR RKRKKENKPK KENLRRMTPA ELANMEHLYE FHPPVWITDT TLRKSPFVPQ
MGDEVIYFRQ GHEAYIEAVR RNNIYELNPN KEPWRKMDLR DQELVKIVGI RYEVGPPTLC
CLKLAFIDPA TGKLMDKSFS IRYHDMPDVI DFLVLRQFYD EARQRNWQSC DRFRSIIDDA
WWFGTVLSQE PYQPQYPDSH FQCYIVRWDN TEIEKLSPWD MEPIPDNVDP PEELGASISV
TTDELEKLLY KPQAGEWGQK SRDEECDRII SGIDQLLNLD IAAAFAGPVD LCTYPKYCTV
VAYPTDLYTI RMRLVNRFYR RLSALVWEVR YIEHNARTFN EPESVIARSA KKITDQLLKF
IKNQHCTNIS ELSNTSENDE QNAEDLDDSD LPKTSSGRRR VHDGKKSIRA TNYVESNWKK
QCKELVNLIF QCEDSEPFRQ PVDLVEYPDY RDIIDTPMDF GTVRETLDAG NYDSPLEFCK
DIRLIFSNAK AYTPNKRSKI YSMTLRLSAL FEEKMKKISS DFKIGQKFNE KLRRSQRFKQ
RQNCKGDSQP NKSIRNLKPK RLKSQTKIIP ELVGSPTQST SSRTAYLGTH KTSAGISSGV
TSGDSSDSAE SSERRKRNRP ITNGSTLSES EVEDSLATSL SSSASSSSEE SKESSRARES
SSRSGLSRSS NLRVTRTRAA QRKTGPVSLA NGCGRKATRK RVYLSDSDNN SLETGEILKA
RAGNNRKVLR KCAAVAANKI KLMSDVEENS SSESVCSGRK LPHRNASAVA RKKLLHNSED
EQSLKSEIEE EELKDENQLL PVSSSHTAQS NVDESENRDS ESESDLRVAR KNWHANGYKS
HTPAPSKTKF LKIESSEEDS KSHDSDHACN RTAGPSTSVQ KLKAESISEE ADSEPGRSGG
RKYNTFHKNA SFFKKTKILS DSEDSESEEQ DREDGKCHKM EMNPISGNLN CDPIAMSQCS
SDHGCETDLD SDDDKIEKPN NFMKDSASQD NGLSRKISRK RVCSSDSDSS LQVVKKSSKA
RTGLLRITRR CAATAANKIK LMSDVEDVSL ENVHTRSKNG RKKPLHLACT TAKKKLSDCE
GSVHCEVPSE QYACEGKPPD PDSEGSTKVL SQALNGDSDS EDMLNSEHKH RHTNIHKIDA
PSKRKSSSVT SSGEDSKSHI PGSETDRTFS SESTLAQKAT AENNFEVELN YGLRRWNGRR
LRTYGKAPFS KTKVIHDSQE TAEKEVKRKR SHPELENVKI SETTGNSKFR PDTSSKSSDL
GSVTESDIDC TDNTKTKRRK TKGKAKVVRK EFVPRDREPN TKVRTCMHNQ KDAVQMPSET
LKAKMVPEKV PRRCATVAAN KIKIMSNLKE TISGPENVWI RKSSRKLPHR NASAAAKKKL
LNVYKEDDTT INSESEKELE DINRKMLFLR GFRSWKENAQ *

speed

0.46 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: 0.984924341426471 (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)

chr21:40670460G>CN/A show variant in all transcripts IGV

HGNC symbol

BRWD1

Ensembl transcript ID

ENST00000342449

Genbank transcript ID

NM_033656

UniProt peptide

Q9NSI6

alteration type

single base exchange

alteration region

CDS

DNA changes

c.247C>G
cDNA.326C>G
g.23026C>G

AA changes

Q83E Score: 29 explain score(s)

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

frameshift

known variant

Reference ID: rs2056844

database	homozygous (C/C)	heterozygous	allele carriers
1000G	595	1206	1801
ExAC	14487	3793	18280

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.557	1
	1.163	1
(flanking)	0.485	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 marginally increased	23019	wt: 0.9619 / mu: 0.9716 (marginal change - not scored)	wt: GCTCCTGATCATCTTTTGCAAATCTGCCAGCGCATCGGTCC mu: GCTCCTGATCATCTTTTGCAAATCTGCGAGCGCATCGGTCC	gcaa\|ATCT

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 identical

ENSPTRG00000013912

Mmulatta

all identical

ENSMMUG00000008504

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000022914

Ggallus

all conserved

ENSGALG00000016065

Trubripes

no homologue

Drerio

no alignment

ENSDARG00000074747

n/a

Dmelanogaster

not conserved

FBgn0011785

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

6810 / 6810

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

2270 / 2270

position of stopcodon in wt / mu cDNA

6889 / 6889

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

80 / 80

chromosome

strand

-1

last intron/exon boundary

5733

theoretical NMD boundary in CDS

5603

length of CDS

6810

coding sequence (CDS) position

247

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

326

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

23026

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

40670460

original gDNA sequence snippet

ATCATCTTTTGCAAATCTGCCAGCGCATCGGTCCTATGTTG

altered gDNA sequence snippet

ATCATCTTTTGCAAATCTGCGAGCGCATCGGTCCTATGTTG

original cDNA sequence snippet

ATCATCTTTTGCAAATCTGCCAGCGCATCGGTCCTATGTTG

altered cDNA sequence snippet

ATCATCTTTTGCAAATCTGCGAGCGCATCGGTCCTATGTTG

wildtype AA sequence

MAEPSSARRP VPLIESELYF LIARYLSAGP CRRAAQVLVQ ELEQYQLLPK RLDWEGNEHN
RSYEELVLSN KHVAPDHLLQ ICQRIGPMLD KEIPPSISRV TSLLGAGRQS LLRTAKDCRH
TVWKGSAFAA LHRGRPPEMP VNYGSPPNLV EIHRGKQLTG CSTFSTAFPG TMYQHIKMHR
RILGHLSAVY CVAFDRTGHR IFTGSDDCLV KIWSTHNGRL LSTLRGHSAE ISDMAVNYEN
TMIAAGSCDK IIRVWCLRTC APVAVLQGHT GSITSLQFSP MAKGSQRYMV STGADGTVCF
WQWDLESLKF SPRPLKFTEK PRPGVQMLCS SFSVGGMFLA TGSTDHVIRM YFLGFEAPEK
IAELESHTDK VDSIQFCNNG DRFLSGSRDG TARIWRFEQL EWRSILLDMA TRISGDLSSE
EERFMKPKVT MIAWNQNDSI VVTAVNDHVL KVWNSYTGQL LHNLMGHADE VFVLETHPFD
SRIMLSAGHD GSIFIWDITK GTKMKHYFNM IEGQGHGAVF DCKFSQDGQH FACTDSHGHL
LIFGFGCSKP YEKIPDQMFF HTDYRPLIRD SNNYVLDEQT QQAPHLMPPP FLVDVDGNPH
PTKYQRLVPG RENSADEHLI PQLGYVATSD GEVIEQIISL QTNDNDERSP ESSILDGMIR
QLQQQQDQRM GADQDTIPRG LSNGEETPRR GFRRLSLDIQ SPPNIGLRRS GQVEGVRQMH
QNAPRSQIAT ERDLQAWKRR VVVPEVPLGI FRKLEDFRLE KGEEERNLYI IGRKRKTLQL
SHKSDSVVLV SQSRQRTCRR KYPNYGRRNR SWRELSSGNE SSSSVRHETS CDQSEGSGSS
EEDEWRSDRK SESYSESSSD SSSRYSDWTA DAGINLQPPL RTSCRRRITR FCSSSEDEIS
TENLSPPKRR RKRKKENKPK KENLRRMTPA ELANMEHLYE FHPPVWITDT TLRKSPFVPQ
MGDEVIYFRQ GHEAYIEAVR RNNIYELNPN KEPWRKMDLR DQELVKIVGI RYEVGPPTLC
CLKLAFIDPA TGKLMDKSFS IRYHDMPDVI DFLVLRQFYD EARQRNWQSC DRFRSIIDDA
WWFGTVLSQE PYQPQYPDSH FQCYIVRWDN TEIEKLSPWD MEPIPDNVDP PEELGASISV
TTDELEKLLY KPQAGEWGQK SRDEECDRII SGIDQLLNLD IAAAFAGPVD LCTYPKYCTV
VAYPTDLYTI RMRLVNRFYR RLSALVWEVR YIEHNARTFN EPESVIARSA KKITDQLLKF
IKNQHCTNIS ELSNTSENDE QNAEDLDDSD LPKTSSGRRR VHDGKKSIRA TNYVESNWKK
QCKELVNLIF QCEDSEPFRQ PVDLVEYPDY RDIIDTPMDF GTVRETLDAG NYDSPLEFCK
DIRLIFSNAK AYTPNKRSKI YSMTLRLSAL FEEKMKKISS DFKIGQKFNE KLRRSQRFKQ
RQNCKGDSQP NKSIRNLKPK RLKSQTKIIP ELVGSPTQST SSRTAYLGTH KTSAGISSGV
TSGDSSDSAE SSERRKRNRP ITNGSTLSES EVEDSLATSL SSSASSSSEE SKESSRARES
SSRSGLSRSS NLRVTRTRAA QRKTGPVSLA NGCGRKATRK RVYLSDSDNN SLETGEILKA
RAGNNRKVLR KCAAVAANKI KLMSDVEENS SSESVCSGRK LPHRNASAVA RKKLLHNSED
EQSLKSEIEE EELKDENQLL PVSSSHTAQS NVDESENRDS ESESDLRVAR KNWHANGYKS
HTPAPSKTKF LKIESSEEDS KSHDSDHACN RTAGPSTSVQ KLKAESISEE ADSEPGRSGG
RKYNTFHKNA SFFKKTKILS DSEDSESEEQ DREDGKCHKM EMNPISGNLN CDPIAMSQCS
SDHGCETDLD SDDDKIEKPN NFMKDSASQD NGLSRKISRK RVCSSDSDSS LQVVKKSSKA
RTGLLRITRR CAATAANKIK LMSDVEDVSL ENVHTRSKNG RKKPLHLACT TAKKKLSDCE
GSVHCEVPSE QYACEGKPPD PDSEGSTKVL SQALNGDSDS EDMLNSEHKH RHTNIHKIDA
PSKRKSSSVT SSGEDSKSHI PGSETDRTFS SESTLAQKAT AENNFEVELN YGLRRWNGRR
LRTYGKAPFS KTKVIHDSQE TAEKEVKRKR SHPELENVKI SETTGNSKFR PDTSSKSSDL
GSVTESDIDC TDNTKTKRRK TKGKAKVVRK GKTFTANISK TVRRQRQSKR PRLSVDDNDW
EDLDYAKSKR VLRRSKIKTR NQGRRTVRYH DGDDDRSLEN VLDFNGCTL*

mutated AA sequence

MAEPSSARRP VPLIESELYF LIARYLSAGP CRRAAQVLVQ ELEQYQLLPK RLDWEGNEHN
RSYEELVLSN KHVAPDHLLQ ICERIGPMLD KEIPPSISRV TSLLGAGRQS LLRTAKDCRH
TVWKGSAFAA LHRGRPPEMP VNYGSPPNLV EIHRGKQLTG CSTFSTAFPG TMYQHIKMHR
RILGHLSAVY CVAFDRTGHR IFTGSDDCLV KIWSTHNGRL LSTLRGHSAE ISDMAVNYEN
TMIAAGSCDK IIRVWCLRTC APVAVLQGHT GSITSLQFSP MAKGSQRYMV STGADGTVCF
WQWDLESLKF SPRPLKFTEK PRPGVQMLCS SFSVGGMFLA TGSTDHVIRM YFLGFEAPEK
IAELESHTDK VDSIQFCNNG DRFLSGSRDG TARIWRFEQL EWRSILLDMA TRISGDLSSE
EERFMKPKVT MIAWNQNDSI VVTAVNDHVL KVWNSYTGQL LHNLMGHADE VFVLETHPFD
SRIMLSAGHD GSIFIWDITK GTKMKHYFNM IEGQGHGAVF DCKFSQDGQH FACTDSHGHL
LIFGFGCSKP YEKIPDQMFF HTDYRPLIRD SNNYVLDEQT QQAPHLMPPP FLVDVDGNPH
PTKYQRLVPG RENSADEHLI PQLGYVATSD GEVIEQIISL QTNDNDERSP ESSILDGMIR
QLQQQQDQRM GADQDTIPRG LSNGEETPRR GFRRLSLDIQ SPPNIGLRRS GQVEGVRQMH
QNAPRSQIAT ERDLQAWKRR VVVPEVPLGI FRKLEDFRLE KGEEERNLYI IGRKRKTLQL
SHKSDSVVLV SQSRQRTCRR KYPNYGRRNR SWRELSSGNE SSSSVRHETS CDQSEGSGSS
EEDEWRSDRK SESYSESSSD SSSRYSDWTA DAGINLQPPL RTSCRRRITR FCSSSEDEIS
TENLSPPKRR RKRKKENKPK KENLRRMTPA ELANMEHLYE FHPPVWITDT TLRKSPFVPQ
MGDEVIYFRQ GHEAYIEAVR RNNIYELNPN KEPWRKMDLR DQELVKIVGI RYEVGPPTLC
CLKLAFIDPA TGKLMDKSFS IRYHDMPDVI DFLVLRQFYD EARQRNWQSC DRFRSIIDDA
WWFGTVLSQE PYQPQYPDSH FQCYIVRWDN TEIEKLSPWD MEPIPDNVDP PEELGASISV
TTDELEKLLY KPQAGEWGQK SRDEECDRII SGIDQLLNLD IAAAFAGPVD LCTYPKYCTV
VAYPTDLYTI RMRLVNRFYR RLSALVWEVR YIEHNARTFN EPESVIARSA KKITDQLLKF
IKNQHCTNIS ELSNTSENDE QNAEDLDDSD LPKTSSGRRR VHDGKKSIRA TNYVESNWKK
QCKELVNLIF QCEDSEPFRQ PVDLVEYPDY RDIIDTPMDF GTVRETLDAG NYDSPLEFCK
DIRLIFSNAK AYTPNKRSKI YSMTLRLSAL FEEKMKKISS DFKIGQKFNE KLRRSQRFKQ
RQNCKGDSQP NKSIRNLKPK RLKSQTKIIP ELVGSPTQST SSRTAYLGTH KTSAGISSGV
TSGDSSDSAE SSERRKRNRP ITNGSTLSES EVEDSLATSL SSSASSSSEE SKESSRARES
SSRSGLSRSS NLRVTRTRAA QRKTGPVSLA NGCGRKATRK RVYLSDSDNN SLETGEILKA
RAGNNRKVLR KCAAVAANKI KLMSDVEENS SSESVCSGRK LPHRNASAVA RKKLLHNSED
EQSLKSEIEE EELKDENQLL PVSSSHTAQS NVDESENRDS ESESDLRVAR KNWHANGYKS
HTPAPSKTKF LKIESSEEDS KSHDSDHACN RTAGPSTSVQ KLKAESISEE ADSEPGRSGG
RKYNTFHKNA SFFKKTKILS DSEDSESEEQ DREDGKCHKM EMNPISGNLN CDPIAMSQCS
SDHGCETDLD SDDDKIEKPN NFMKDSASQD NGLSRKISRK RVCSSDSDSS LQVVKKSSKA
RTGLLRITRR CAATAANKIK LMSDVEDVSL ENVHTRSKNG RKKPLHLACT TAKKKLSDCE
GSVHCEVPSE QYACEGKPPD PDSEGSTKVL SQALNGDSDS EDMLNSEHKH RHTNIHKIDA
PSKRKSSSVT SSGEDSKSHI PGSETDRTFS SESTLAQKAT AENNFEVELN YGLRRWNGRR
LRTYGKAPFS KTKVIHDSQE TAEKEVKRKR SHPELENVKI SETTGNSKFR PDTSSKSSDL
GSVTESDIDC TDNTKTKRRK TKGKAKVVRK GKTFTANISK TVRRQRQSKR PRLSVDDNDW
EDLDYAKSKR VLRRSKIKTR NQGRRTVRYH DGDDDRSLEN VLDFNGCTL*

speed

0.80 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.984924341426471 (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)

chr21:40670460G>CN/A show variant in all transcripts IGV

HGNC symbol

BRWD1

Ensembl transcript ID

ENST00000341322

Genbank transcript ID

NM_001007246

UniProt peptide

Q9NSI6

alteration type

single base exchange

alteration region

CDS

DNA changes

c.247C>G
cDNA.398C>G
g.23026C>G

AA changes

Q83E Score: 29 explain score(s)

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

frameshift

known variant

Reference ID: rs2056844

database	homozygous (C/C)	heterozygous	allele carriers
1000G	595	1206	1801
ExAC	14487	3793	18280

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.557	1
	1.163	1
(flanking)	0.485	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 marginally increased	23019	wt: 0.9619 / mu: 0.9716 (marginal change - not scored)	wt: GCTCCTGATCATCTTTTGCAAATCTGCCAGCGCATCGGTCC mu: GCTCCTGATCATCTTTTGCAAATCTGCGAGCGCATCGGTCC	gcaa\|ATCT

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 identical

ENSPTRG00000013912

Mmulatta

all identical

ENSMMUG00000008504

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000022914

Ggallus

all conserved

ENSGALG00000016065

Trubripes

no homologue

Drerio

no alignment

ENSDARG00000074747

n/a

Dmelanogaster

not conserved

FBgn0011785

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

363 / 363

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

121 / 121

position of stopcodon in wt / mu cDNA

514 / 514

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

152 / 152

chromosome

strand

-1

last intron/exon boundary

350

theoretical NMD boundary in CDS

148

length of CDS

363

coding sequence (CDS) position

247

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

398

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

23026

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

40670460

original gDNA sequence snippet

ATCATCTTTTGCAAATCTGCCAGCGCATCGGTCCTATGTTG

altered gDNA sequence snippet

ATCATCTTTTGCAAATCTGCGAGCGCATCGGTCCTATGTTG

original cDNA sequence snippet

ATCATCTTTTGCAAATCTGCCAGCGCATCGGTCCTATGTTG

altered cDNA sequence snippet

ATCATCTTTTGCAAATCTGCGAGCGCATCGGTCCTATGTTG

wildtype AA sequence

MAEPSSARRP VPLIESELYF LIARYLSAGP CRRAAQVLVQ ELEQYQLLPK RLDWEGNEHN
RSYEELVLSN KHVAPDHLLQ ICQRIGPMLD KEIPPSISRV TSLLGAGRQS LLRTAKGTLI
*

mutated AA sequence

MAEPSSARRP VPLIESELYF LIARYLSAGP CRRAAQVLVQ ELEQYQLLPK RLDWEGNEHN
RSYEELVLSN KHVAPDHLLQ ICERIGPMLD KEIPPSISRV TSLLGAGRQS LLRTAKGTLI
*

speed

0.38 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.984924341426471 (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)

chr21:40670460G>CN/A show variant in all transcripts IGV

HGNC symbol

BRWD1

Ensembl transcript ID

ENST00000380800

Genbank transcript ID

N/A

UniProt peptide

Q9NSI6

alteration type

single base exchange

alteration region

CDS

DNA changes

c.247C>G
cDNA.346C>G
g.23026C>G

AA changes

Q83E Score: 29 explain score(s)

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

frameshift

known variant

Reference ID: rs2056844

database	homozygous (C/C)	heterozygous	allele carriers
1000G	595	1206	1801
ExAC	14487	3793	18280

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.557	1
	1.163	1
(flanking)	0.485	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 marginally increased	23019	wt: 0.9619 / mu: 0.9716 (marginal change - not scored)	wt: GCTCCTGATCATCTTTTGCAAATCTGCCAGCGCATCGGTCC mu: GCTCCTGATCATCTTTTGCAAATCTGCGAGCGCATCGGTCC	gcaa\|ATCT

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 identical

ENSPTRG00000013912

Mmulatta

all identical

ENSMMUG00000008504

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000022914

Ggallus

all conserved

ENSGALG00000016065

Trubripes

no homologue

Drerio

no alignment

ENSDARG00000074747

n/a

Dmelanogaster

not conserved

FBgn0011785

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

6600 / 6600

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

2200 / 2200

position of stopcodon in wt / mu cDNA

6699 / 6699

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

100 / 100

chromosome

strand

-1

last intron/exon boundary

6671

theoretical NMD boundary in CDS

6521

length of CDS

6600

coding sequence (CDS) position

247

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

346

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

23026

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

40670460

original gDNA sequence snippet

ATCATCTTTTGCAAATCTGCCAGCGCATCGGTCCTATGTTG

altered gDNA sequence snippet

ATCATCTTTTGCAAATCTGCGAGCGCATCGGTCCTATGTTG

original cDNA sequence snippet

ATCATCTTTTGCAAATCTGCCAGCGCATCGGTCCTATGTTG

altered cDNA sequence snippet

ATCATCTTTTGCAAATCTGCGAGCGCATCGGTCCTATGTTG

wildtype AA sequence

mutated AA sequence

speed

0.39 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