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: ENST00000264414
Querying Taster for transcript #2: ENST00000409096
Querying Taster for transcript #3: ENST00000409777
Querying Taster for transcript #4: ENST00000344951
MT speed 5.28 s - this script 6.145733 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
CUL3	disease_causing_automatic	0.99999999697584	simple_aae		affected	0	K459R	single base exchange	rs199469658		show file
CUL3	disease_causing_automatic	0.99999999697584	simple_aae		affected	0	K435R	single base exchange	rs199469658		show file
CUL3	disease_causing_automatic	0.99999999697584	simple_aae		affected	0	K393R	single base exchange	rs199469658		show file
CUL3	disease_causing_automatic	0.99999999697584	simple_aae		affected	0	K435R	single base exchange	rs199469658		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.99999999697584 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM120703)
known disease mutation: rs100522 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:225368370T>CN/A show variant in all transcripts IGV

HGNC symbol

CUL3

Ensembl transcript ID

ENST00000264414

Genbank transcript ID

NM_001257198

UniProt peptide

Q13618

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1376A>G
cDNA.1715A>G
g.81741A>G

AA changes

K459R Score: 26 explain score(s)

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

459

frameshift

known variant

Reference ID: rs199469658
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs100522 (pathogenic for Pseudohypoaldosteronism type 2A) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM120703)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	6.174	1
	5.099	1
(flanking)	5.099	1

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

splice sites

alteration within used splice site, likely to disturb normal splicing

effect	gDNA position	score	detection sequence	exon-intron border
Donor lost	81742	sequence motif lost	-	wt: AAAG\|gtaa mu: AAGG.gtaa
Donor marginally decreased	81742	wt: 0.9961 / mu: 0.9937 (marginal change - not scored)	wt: TTAAAGGTAAGGTGT mu: TTAAGGGTAAGGTGT	AAAG\|gtaa
Donor marginally increased	81735	wt: 0.9795 / mu: 0.9990 (marginal change - not scored)	wt: ATCTAAGTTAAAGGT mu: ATCTAAGTTAAGGGT	CTAA\|gtta

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

459

mutated

all conserved

459

Ptroglodytes

all identical

ENSPTRG00000012986

459

Mmulatta

all identical

ENSMMUG00000022259

459

Fcatus

not conserved

ENSFCAG00000008145

371

Mmusculus

all identical

ENSMUSG00000004364

459

Ggallus

all identical

ENSGALG00000005108

437

Trubripes

no homologue

Drerio

all identical

ENSDARG00000038967

457

Dmelanogaster

all identical

FBgn0261268

620

Celegans

all identical

Y108G3AL.1

465

Xtropicalis

all identical

ENSXETG00000008183

459

protein features

start (aa)	end (aa)	feature	details
481	481	CONFLICT	N -> T (in Ref. 4; AAQ01660).	might get lost (downstream of altered splice site)
609	609	CONFLICT	E -> G (in Ref. 8; AAH31844).	might get lost (downstream of altered splice site)
666	666	CONFLICT	T -> I (in Ref. 4; AAQ01660).	might get lost (downstream of altered splice site)
712	712	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in NEDD8) (By similarity).	might get lost (downstream of altered splice site)
737	737	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2307 / 2307

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

769 / 769

position of stopcodon in wt / mu cDNA

2646 / 2646

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

340 / 340

chromosome

strand

-1

last intron/exon boundary

2515

theoretical NMD boundary in CDS

2125

length of CDS

2307

coding sequence (CDS) position

1376

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

1715

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

81741

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

225368370

original gDNA sequence snippet

AAACATGATATCTAAGTTAAAGGTAAGGTGTGTTTTAGATG

altered gDNA sequence snippet

AAACATGATATCTAAGTTAAGGGTAAGGTGTGTTTTAGATG

original cDNA sequence snippet

AAACATGATATCTAAGTTAAAGACTGAATGTGGATGTCAGT

altered cDNA sequence snippet

AAACATGATATCTAAGTTAAGGACTGAATGTGGATGTCAGT

wildtype AA sequence

MSNLSKGTGS RKDTKMRIRA FPMTMDEKYV NSIWDLLKNA IQEIQRKNNS GLSFEELYRN
AYTMVLHKHG EKLYTGLREV VTEHLINKVR EDVLNSLNNN FLQTLNQAWN DHQTAMVMIR
DILMYMDRVY VQQNNVENVY NLGLIIFRDQ VVRYGCIRDH LRQTLLDMIA RERKGEVVDR
GAIRNACQML MILGLEGRSV YEEDFEAPFL EMSAEFFQME SQKFLAENSA SVYIKKVEAR
INEEIERVMH CLDKSTEEPI VKVVERELIS KHMKTIVEME NSGLVHMLKN GKTEDLGCMY
KLFSRVPNGL KTMCECMSSY LREQGKALVS EEGEGKNPVD YIQGLLDLKS RFDRFLLESF
NNDRLFKQTI AGDFEYFLNL NSRSPEYLSL FIDDKLKKGV KGLTEQEVET ILDKAMVLFR
FMQEKDVFER YYKQHLARRL LTNKSVSDDS EKNMISKLKT ECGCQFTSKL EGMFRDMSIS
NTTMDEFRQH LQATGVSLGG VDLTVRVLTT GYWPTQSATP KCNIPPAPRH AFEIFRRFYL
AKHSGRQLTL QHHMGSADLN ATFYGPVKKE DGSEVGVGGA QVTGSNTRKH ILQVSTFQMT
ILMLFNNREK YTFEEIQQET DIPERELVRA LQSLACGKPT QRVLTKEPKS KEIENGHIFT
VNDQFTSKLH RVKIQTVAAK QGESDPERKE TRQKVDDDRK HEIEAAIVRI MKSRKKMQHN
VLVAEVTQQL KARFLPSPVV IKKRIEGLIE REYLARTPED RKVYTYVA*

mutated AA sequence

MSNLSKGTGS RKDTKMRIRA FPMTMDEKYV NSIWDLLKNA IQEIQRKNNS GLSFEELYRN
AYTMVLHKHG EKLYTGLREV VTEHLINKVR EDVLNSLNNN FLQTLNQAWN DHQTAMVMIR
DILMYMDRVY VQQNNVENVY NLGLIIFRDQ VVRYGCIRDH LRQTLLDMIA RERKGEVVDR
GAIRNACQML MILGLEGRSV YEEDFEAPFL EMSAEFFQME SQKFLAENSA SVYIKKVEAR
INEEIERVMH CLDKSTEEPI VKVVERELIS KHMKTIVEME NSGLVHMLKN GKTEDLGCMY
KLFSRVPNGL KTMCECMSSY LREQGKALVS EEGEGKNPVD YIQGLLDLKS RFDRFLLESF
NNDRLFKQTI AGDFEYFLNL NSRSPEYLSL FIDDKLKKGV KGLTEQEVET ILDKAMVLFR
FMQEKDVFER YYKQHLARRL LTNKSVSDDS EKNMISKLRT ECGCQFTSKL EGMFRDMSIS
NTTMDEFRQH LQATGVSLGG VDLTVRVLTT GYWPTQSATP KCNIPPAPRH AFEIFRRFYL
AKHSGRQLTL QHHMGSADLN ATFYGPVKKE DGSEVGVGGA QVTGSNTRKH ILQVSTFQMT
ILMLFNNREK YTFEEIQQET DIPERELVRA LQSLACGKPT QRVLTKEPKS KEIENGHIFT
VNDQFTSKLH RVKIQTVAAK QGESDPERKE TRQKVDDDRK HEIEAAIVRI MKSRKKMQHN
VLVAEVTQQL KARFLPSPVV IKKRIEGLIE REYLARTPED RKVYTYVA*

speed

1.31 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

disease causing

Model: simple_aae, prob: 0.99999999697584 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM120703)
known disease mutation: rs100522 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:225368370T>CN/A show variant in all transcripts IGV

HGNC symbol

CUL3

Ensembl transcript ID

ENST00000409096

Genbank transcript ID

N/A

UniProt peptide

Q13618

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1304A>G
cDNA.1447A>G
g.81741A>G

AA changes

K435R Score: 26 explain score(s)

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

435

frameshift

known variant

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	6.174	1
	5.099	1
(flanking)	5.099	1

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

splice sites

alteration within used splice site, likely to disturb normal splicing

effect	gDNA position	score	detection sequence	exon-intron border
Donor lost	81742	sequence motif lost	-	wt: AAAG\|gtaa mu: AAGG.gtaa
Donor marginally decreased	81742	wt: 0.9961 / mu: 0.9937 (marginal change - not scored)	wt: TTAAAGGTAAGGTGT mu: TTAAGGGTAAGGTGT	AAAG\|gtaa
Donor marginally increased	81735	wt: 0.9795 / mu: 0.9990 (marginal change - not scored)	wt: ATCTAAGTTAAAGGT mu: ATCTAAGTTAAGGGT	CTAA\|gtta

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

435

mutated

all conserved

435

Ptroglodytes

all identical

ENSPTRG00000012986

459

Mmulatta

all identical

ENSMMUG00000022259

459

Fcatus

not conserved

ENSFCAG00000008145

371

Mmusculus

all identical

ENSMUSG00000004364

459

Ggallus

all identical

ENSGALG00000005108

437

Trubripes

no homologue

Drerio

all identical

ENSDARG00000038967

457

Dmelanogaster

all identical

FBgn0261268

620

Celegans

all identical

Y108G3AL.1

465

Xtropicalis

all identical

ENSXETG00000008183

459

protein features

start (aa)	end (aa)	feature	details
450	450	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
481	481	CONFLICT	N -> T (in Ref. 4; AAQ01660).	might get lost (downstream of altered splice site)
609	609	CONFLICT	E -> G (in Ref. 8; AAH31844).	might get lost (downstream of altered splice site)
666	666	CONFLICT	T -> I (in Ref. 4; AAQ01660).	might get lost (downstream of altered splice site)
712	712	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in NEDD8) (By similarity).	might get lost (downstream of altered splice site)
737	737	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2235 / 2235

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

745 / 745

position of stopcodon in wt / mu cDNA

2378 / 2378

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

144 / 144

chromosome

strand

-1

last intron/exon boundary

2247

theoretical NMD boundary in CDS

2053

length of CDS

2235

coding sequence (CDS) position

1304

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

1447

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

81741

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

225368370

original gDNA sequence snippet

AAACATGATATCTAAGTTAAAGGTAAGGTGTGTTTTAGATG

altered gDNA sequence snippet

AAACATGATATCTAAGTTAAGGGTAAGGTGTGTTTTAGATG

original cDNA sequence snippet

AAACATGATATCTAAGTTAAAGACTGAATGTGGATGTCAGT

altered cDNA sequence snippet

AAACATGATATCTAAGTTAAGGACTGAATGTGGATGTCAGT

wildtype AA sequence

MDEKYVNSIW DLLKNAIQEI QRKNNSGLSF EELYRNAYTM VLHKHGEKLY TGLREVVTEH
LINKVREDVL NSLNNNFLQT LNQAWNDHQT AMVMIRDILM YMDRVYVQQN NVENVYNLGL
IIFRDQVVRY GCIRDHLRQT LLDMIARERK GEVVDRGAIR NACQMLMILG LEGRSVYEED
FEAPFLEMSA EFFQMESQKF LAENSASVYI KKVEARINEE IERVMHCLDK STEEPIVKVV
ERELISKHMK TIVEMENSGL VHMLKNGKTE DLGCMYKLFS RVPNGLKTMC ECMSSYLREQ
GKALVSEEGE GKNPVDYIQG LLDLKSRFDR FLLESFNNDR LFKQTIAGDF EYFLNLNSRS
PEYLSLFIDD KLKKGVKGLT EQEVETILDK AMVLFRFMQE KDVFERYYKQ HLARRLLTNK
SVSDDSEKNM ISKLKTECGC QFTSKLEGMF RDMSISNTTM DEFRQHLQAT GVSLGGVDLT
VRVLTTGYWP TQSATPKCNI PPAPRHAFEI FRRFYLAKHS GRQLTLQHHM GSADLNATFY
GPVKKEDGSE VGVGGAQVTG SNTRKHILQV STFQMTILML FNNREKYTFE EIQQETDIPE
RELVRALQSL ACGKPTQRVL TKEPKSKEIE NGHIFTVNDQ FTSKLHRVKI QTVAAKQGES
DPERKETRQK VDDDRKHEIE AAIVRIMKSR KKMQHNVLVA EVTQQLKARF LPSPVVIKKR
IEGLIEREYL ARTPEDRKVY TYVA*

mutated AA sequence

MDEKYVNSIW DLLKNAIQEI QRKNNSGLSF EELYRNAYTM VLHKHGEKLY TGLREVVTEH
LINKVREDVL NSLNNNFLQT LNQAWNDHQT AMVMIRDILM YMDRVYVQQN NVENVYNLGL
IIFRDQVVRY GCIRDHLRQT LLDMIARERK GEVVDRGAIR NACQMLMILG LEGRSVYEED
FEAPFLEMSA EFFQMESQKF LAENSASVYI KKVEARINEE IERVMHCLDK STEEPIVKVV
ERELISKHMK TIVEMENSGL VHMLKNGKTE DLGCMYKLFS RVPNGLKTMC ECMSSYLREQ
GKALVSEEGE GKNPVDYIQG LLDLKSRFDR FLLESFNNDR LFKQTIAGDF EYFLNLNSRS
PEYLSLFIDD KLKKGVKGLT EQEVETILDK AMVLFRFMQE KDVFERYYKQ HLARRLLTNK
SVSDDSEKNM ISKLRTECGC QFTSKLEGMF RDMSISNTTM DEFRQHLQAT GVSLGGVDLT
VRVLTTGYWP TQSATPKCNI PPAPRHAFEI FRRFYLAKHS GRQLTLQHHM GSADLNATFY
GPVKKEDGSE VGVGGAQVTG SNTRKHILQV STFQMTILML FNNREKYTFE EIQQETDIPE
RELVRALQSL ACGKPTQRVL TKEPKSKEIE NGHIFTVNDQ FTSKLHRVKI QTVAAKQGES
DPERKETRQK VDDDRKHEIE AAIVRIMKSR KKMQHNVLVA EVTQQLKARF LPSPVVIKKR
IEGLIEREYL ARTPEDRKVY TYVA*

speed

1.40 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.99999999697584 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM120703)
known disease mutation: rs100522 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:225368370T>CN/A show variant in all transcripts IGV

HGNC symbol

CUL3

Ensembl transcript ID

ENST00000344951

Genbank transcript ID

NM_001257197

UniProt peptide

Q13618

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1178A>G
cDNA.1562A>G
g.81741A>G

AA changes

K393R Score: 26 explain score(s)

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

393

frameshift

known variant

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	6.174	1
	5.099	1
(flanking)	5.099	1

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

splice sites

alteration within used splice site, likely to disturb normal splicing

effect	gDNA position	score	detection sequence	exon-intron border
Donor lost	81742	sequence motif lost	-	wt: AAAG\|gtaa mu: AAGG.gtaa
Donor marginally decreased	81742	wt: 0.9961 / mu: 0.9937 (marginal change - not scored)	wt: TTAAAGGTAAGGTGT mu: TTAAGGGTAAGGTGT	AAAG\|gtaa
Donor marginally increased	81735	wt: 0.9795 / mu: 0.9990 (marginal change - not scored)	wt: ATCTAAGTTAAAGGT mu: ATCTAAGTTAAGGGT	CTAA\|gtta

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

393

mutated

all conserved

393

Ptroglodytes

all identical

ENSPTRG00000012986

459

Mmulatta

all identical

ENSMMUG00000022259

459

Fcatus

not conserved

ENSFCAG00000008145

371

Mmusculus

all identical

ENSMUSG00000004364

459

Ggallus

all identical

ENSGALG00000005108

437

Trubripes

no homologue

Drerio

all identical

ENSDARG00000038967

457

Dmelanogaster

all identical

FBgn0261268

620

Celegans

all identical

Y108G3AL.1

465

Xtropicalis

all identical

ENSXETG00000008183

459

protein features

start (aa)	end (aa)	feature	details
397	397	CONFLICT	K -> T (in Ref. 4; AAQ01660).	might get lost (downstream of altered splice site)
450	450	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
481	481	CONFLICT	N -> T (in Ref. 4; AAQ01660).	might get lost (downstream of altered splice site)
609	609	CONFLICT	E -> G (in Ref. 8; AAH31844).	might get lost (downstream of altered splice site)
666	666	CONFLICT	T -> I (in Ref. 4; AAQ01660).	might get lost (downstream of altered splice site)
712	712	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in NEDD8) (By similarity).	might get lost (downstream of altered splice site)
737	737	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2109 / 2109

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

703 / 703

position of stopcodon in wt / mu cDNA

2493 / 2493

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

385 / 385

chromosome

strand

-1

last intron/exon boundary

2362

theoretical NMD boundary in CDS

1927

length of CDS

2109

coding sequence (CDS) position

1178

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

1562

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

81741

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

225368370

original gDNA sequence snippet

AAACATGATATCTAAGTTAAAGGTAAGGTGTGTTTTAGATG

altered gDNA sequence snippet

AAACATGATATCTAAGTTAAGGGTAAGGTGTGTTTTAGATG

original cDNA sequence snippet

AAACATGATATCTAAGTTAAAGACTGAATGTGGATGTCAGT

altered cDNA sequence snippet

AAACATGATATCTAAGTTAAGGACTGAATGTGGATGTCAGT

wildtype AA sequence

MSNLSKGTGS RKDTKMRIRA FPVREDVLNS LNNNFLQTLN QAWNDHQTAM VMIRDILMYM
DRVYVQQNNV ENVYNLGLII FRDQVVRYGC IRDHLRQTLL DMIARERKGE VVDRGAIRNA
CQMLMILGLE GRSVYEEDFE APFLEMSAEF FQMESQKFLA ENSASVYIKK VEARINEEIE
RVMHCLDKST EEPIVKVVER ELISKHMKTI VEMENSGLVH MLKNGKTEDL GCMYKLFSRV
PNGLKTMCEC MSSYLREQGK ALVSEEGEGK NPVDYIQGLL DLKSRFDRFL LESFNNDRLF
KQTIAGDFEY FLNLNSRSPE YLSLFIDDKL KKGVKGLTEQ EVETILDKAM VLFRFMQEKD
VFERYYKQHL ARRLLTNKSV SDDSEKNMIS KLKTECGCQF TSKLEGMFRD MSISNTTMDE
FRQHLQATGV SLGGVDLTVR VLTTGYWPTQ SATPKCNIPP APRHAFEIFR RFYLAKHSGR
QLTLQHHMGS ADLNATFYGP VKKEDGSEVG VGGAQVTGSN TRKHILQVST FQMTILMLFN
NREKYTFEEI QQETDIPERE LVRALQSLAC GKPTQRVLTK EPKSKEIENG HIFTVNDQFT
SKLHRVKIQT VAAKQGESDP ERKETRQKVD DDRKHEIEAA IVRIMKSRKK MQHNVLVAEV
TQQLKARFLP SPVVIKKRIE GLIEREYLAR TPEDRKVYTY VA*

mutated AA sequence

MSNLSKGTGS RKDTKMRIRA FPVREDVLNS LNNNFLQTLN QAWNDHQTAM VMIRDILMYM
DRVYVQQNNV ENVYNLGLII FRDQVVRYGC IRDHLRQTLL DMIARERKGE VVDRGAIRNA
CQMLMILGLE GRSVYEEDFE APFLEMSAEF FQMESQKFLA ENSASVYIKK VEARINEEIE
RVMHCLDKST EEPIVKVVER ELISKHMKTI VEMENSGLVH MLKNGKTEDL GCMYKLFSRV
PNGLKTMCEC MSSYLREQGK ALVSEEGEGK NPVDYIQGLL DLKSRFDRFL LESFNNDRLF
KQTIAGDFEY FLNLNSRSPE YLSLFIDDKL KKGVKGLTEQ EVETILDKAM VLFRFMQEKD
VFERYYKQHL ARRLLTNKSV SDDSEKNMIS KLRTECGCQF TSKLEGMFRD MSISNTTMDE
FRQHLQATGV SLGGVDLTVR VLTTGYWPTQ SATPKCNIPP APRHAFEIFR RFYLAKHSGR
QLTLQHHMGS ADLNATFYGP VKKEDGSEVG VGGAQVTGSN TRKHILQVST FQMTILMLFN
NREKYTFEEI QQETDIPERE LVRALQSLAC GKPTQRVLTK EPKSKEIENG HIFTVNDQFT
SKLHRVKIQT VAAKQGESDP ERKETRQKVD DDRKHEIEAA IVRIMKSRKK MQHNVLVAEV
TQQLKARFLP SPVVIKKRIE GLIEREYLAR TPEDRKVYTY VA*

speed

1.23 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.99999999697584 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM120703)
known disease mutation: rs100522 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:225368370T>CN/A show variant in all transcripts IGV

HGNC symbol

CUL3

Ensembl transcript ID

ENST00000409777

Genbank transcript ID

N/A

UniProt peptide

Q13618

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1304A>G
cDNA.1910A>G
g.81741A>G

AA changes

K435R Score: 26 explain score(s)

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

435

frameshift

known variant

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	6.174	1
	5.099	1
(flanking)	5.099	1

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

splice sites

alteration within used splice site, likely to disturb normal splicing

effect	gDNA position	score	detection sequence	exon-intron border
Donor lost	81742	sequence motif lost	-	wt: AAAG\|gtaa mu: AAGG.gtaa
Donor marginally decreased	81742	wt: 0.9961 / mu: 0.9937 (marginal change - not scored)	wt: TTAAAGGTAAGGTGT mu: TTAAGGGTAAGGTGT	AAAG\|gtaa
Donor marginally increased	81735	wt: 0.9795 / mu: 0.9990 (marginal change - not scored)	wt: ATCTAAGTTAAAGGT mu: ATCTAAGTTAAGGGT	CTAA\|gtta

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

435

mutated

all conserved

435

Ptroglodytes

all identical

ENSPTRG00000012986

459

Mmulatta

all identical

ENSMMUG00000022259

459

Fcatus

not conserved

ENSFCAG00000008145

371

Mmusculus

all identical

ENSMUSG00000004364

459

Ggallus

all identical

ENSGALG00000005108

437

Trubripes

no homologue

Drerio

all identical

ENSDARG00000038967

457

Dmelanogaster

all identical

FBgn0261268

620

Celegans

all identical

Y108G3AL.1

465

Xtropicalis

all identical

ENSXETG00000008183

459

protein features

start (aa)	end (aa)	feature	details
450	450	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
481	481	CONFLICT	N -> T (in Ref. 4; AAQ01660).	might get lost (downstream of altered splice site)
609	609	CONFLICT	E -> G (in Ref. 8; AAH31844).	might get lost (downstream of altered splice site)
666	666	CONFLICT	T -> I (in Ref. 4; AAQ01660).	might get lost (downstream of altered splice site)
712	712	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in NEDD8) (By similarity).	might get lost (downstream of altered splice site)
737	737	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2235 / 2235

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

745 / 745

position of stopcodon in wt / mu cDNA

2841 / 2841

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

607 / 607

chromosome

strand

-1

last intron/exon boundary

2710

theoretical NMD boundary in CDS

2053

length of CDS

2235

coding sequence (CDS) position

1304

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

1910

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

81741

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

225368370

original gDNA sequence snippet

AAACATGATATCTAAGTTAAAGGTAAGGTGTGTTTTAGATG

altered gDNA sequence snippet

AAACATGATATCTAAGTTAAGGGTAAGGTGTGTTTTAGATG

original cDNA sequence snippet

AAACATGATATCTAAGTTAAAGACTGAATGTGGATGTCAGT

altered cDNA sequence snippet

AAACATGATATCTAAGTTAAGGACTGAATGTGGATGTCAGT

wildtype AA sequence

mutated AA sequence

MDEKYVNSIW DLLKNAIQEI QRKNNSGLSF EELYRNAYTM VLHKHGEKLY TGLREVVTEH
LINKVREDVL NSLNNNFLQT LNQAWNDHQT AMVMIRDILM YMDRVYVQQN NVENVYNLGL
IIFRDQVVRY GCIRDHLRQT LLDMIARERK GEVVDRGAIR NACQMLMILG LEGRSVYEED
FEAPFLEMSA EFFQMESQKF LAENSASVYI KKVEARINEE IERVMHCLDK STEEPIVKVV
ERELISKHMK TIVEMENSGL VHMLKNGKTE DLGCMYKLFS RVPNGLKTMC ECMSSYLREQ
GKALVSEEGE GKNPVDYIQG LLDLKSRFDR FLLESFNNDR LFKQTIAGDF EYFLNLNSRS
PEYLSLFIDD KLKKGVKGLT EQEVETILDK AMVLFRFMQE KDVFERYYKQ HLARRLLTNK
SVSDDSEKNM ISKLRTECGC QFTSKLEGMF RDMSISNTTM DEFRQHLQAT GVSLGGVDLT
VRVLTTGYWP TQSATPKCNI PPAPRHAFEI FRRFYLAKHS GRQLTLQHHM GSADLNATFY
GPVKKEDGSE VGVGGAQVTG SNTRKHILQV STFQMTILML FNNREKYTFE EIQQETDIPE
RELVRALQSL ACGKPTQRVL TKEPKSKEIE NGHIFTVNDQ FTSKLHRVKI QTVAAKQGES
DPERKETRQK VDDDRKHEIE AAIVRIMKSR KKMQHNVLVA EVTQQLKARF LPSPVVIKKR
IEGLIEREYL ARTPEDRKVY TYVA*

speed

1.34 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

Problems