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: ENST00000506447
Querying Taster for transcript #2: ENST00000430049
Querying Taster for transcript #3: ENST00000325971
MT speed 0 s - this script 3.068632 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
CEP192	polymorphism_automatic	0.00653264238905904	simple_aae		affected		S1552P	single base exchange	rs578208		show file
CEP192	polymorphism_automatic	0.00653264238905904	simple_aae		affected		S1077P	single base exchange	rs578208		show file
CEP192	polymorphism_automatic	0.00653264238905904	simple_aae		affected		S956P	single base exchange	rs578208		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.993467357610941 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr18:13068132T>CN/A show variant in all transcripts IGV

HGNC symbol

CEP192

Ensembl transcript ID

ENST00000506447

Genbank transcript ID

NM_032142

UniProt peptide

Q8TEP8

alteration type

single base exchange

alteration region

CDS

DNA changes

c.4654T>C
cDNA.4734T>C
g.76772T>C

AA changes

S1552P Score: 74 explain score(s)

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

1552

frameshift

known variant

Reference ID: rs578208

database	homozygous (C/C)	heterozygous	allele carriers
1000G	1440	862	2302
ExAC	26966	-21165	5801

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.246	0.959
	3.989	1
(flanking)	5.569	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	76766	wt: 0.7787 / mu: 0.8373 (marginal change - not scored)	wt: GGCGCTGTTTCACGTTTTCCAAGGAATCCGTCCGAGCTCCT mu: GGCGCTGTTTCACGTTTTCCAAGGAACCCGTCCGAGCTCCT	tcca\|AGGA
Acc increased	76769	wt: 0.34 / mu: 0.48	wt: GCTGTTTCACGTTTTCCAAGGAATCCGTCCGAGCTCCTGTG mu: GCTGTTTCACGTTTTCCAAGGAACCCGTCCGAGCTCCTGTG	aagg\|AATC
Acc marginally increased	76767	wt: 0.7541 / mu: 0.8265 (marginal change - not scored)	wt: GCGCTGTTTCACGTTTTCCAAGGAATCCGTCCGAGCTCCTG mu: GCGCTGTTTCACGTTTTCCAAGGAACCCGTCCGAGCTCCTG	ccaa\|GGAA
Acc marginally increased	76765	wt: 0.8634 / mu: 0.8742 (marginal change - not scored)	wt: TGGCGCTGTTTCACGTTTTCCAAGGAATCCGTCCGAGCTCC mu: TGGCGCTGTTTCACGTTTTCCAAGGAACCCGTCCGAGCTCC	ttcc\|AAGG
Donor marginally increased	76775	wt: 0.8489 / mu: 0.8835 (marginal change - not scored)	wt: AATCCGTCCGAGCTC mu: AACCCGTCCGAGCTC	TCCG\|tccg
Donor increased	76767	wt: 0.66 / mu: 0.90	wt: TTCCAAGGAATCCGT mu: TTCCAAGGAACCCGT	CCAA\|ggaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

1552

mutated

not conserved

1552

Ptroglodytes

not conserved

ENSPTRG00000009886

956

Mmulatta

not conserved

ENSMMUG00000002512

950

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000024542

1527

Ggallus

not conserved

ENSGALG00000013880

604

Trubripes

not conserved

ENSTRUG00000012415

131

Drerio

not conserved

ENSDARG00000074974

929

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000019662

154

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

7614 / 7614

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

2538 / 2538

position of stopcodon in wt / mu cDNA

7694 / 7694

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

81 / 81

chromosome

strand

last intron/exon boundary

7556

theoretical NMD boundary in CDS

7425

length of CDS

7614

coding sequence (CDS) position

4654

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

4734

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

76772

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

13068132

original gDNA sequence snippet

GTTTCACGTTTTCCAAGGAATCCGTCCGAGCTCCTGTGGAA

altered gDNA sequence snippet

GTTTCACGTTTTCCAAGGAACCCGTCCGAGCTCCTGTGGAA

original cDNA sequence snippet

GTTTCACGTTTTCCAAGGAATCCGTCCGAGCTCCTGTGGAA

altered cDNA sequence snippet

GTTTCACGTTTTCCAAGGAACCCGTCCGAGCTCCTGTGGAA

wildtype AA sequence

MEDFRGIAEE SFPSFLTNSL FGNSGILENV TLSSNLGLPV AVSTLARDRS STDNRYPDIQ
ASYLVEGRFS VPSGSSPGSQ SDAEPRERLQ LSFQDDDSIS RKKSYVESQR LSNALSKQSA
LQMETAGPEE EPAGATESLQ GQDLFNRASP LEQAQDSPID FHLQSWMNNK EPKIVVLDAG
KHFEDKTLKS DLSHTSLLEN EKLILPTSLE DSSDDDIDDE MFYDDHLEAY FEQLAIPGMI
YEDLEGPEPP EKGFKLPTNG LRQANENGSL NCKFQSENNS SLISLDSHSS ETTHKESEES
QVICLPGTSN SIGTGDSRRY TDGMLPFSSG TWGTEKEIEN LKGIVPDLNS ECASKDVLVK
TLRAIDVKLN SDNFHDANAN RGGFDLTDPV KQGAECPHQN KTVLHMDGCL DTETPTVSIQ
ENVDVASLKP ISDSGINFTD AIWSPTCERR TCECHESIEK NKDKTDLPQS VVYQNEEGRW
VTDLAYYTSF NSKQNLNVSL SDEMNEDFRS GSEAFDLIAQ DEEEFNKEHQ FIQEENIDAH
NTSVALGDTS WGATINYSLL RKSRSTSDLD KDDASYLRLS LGEFFAQRSE ALGCLGGGNN
VKRPSFGYFI RSPEKREPIA LIRKSDVSRG NLEKEMAHLN HDLYSGDLNE QSQAQLSEGS
ITLQVEAVES TSQVDENDVT LTADKGKTED TFFMSNKPQR YKDKLPDSGD SMLRISTIAS
AIAEASVNTD PSQLAAMIKA LSNKTRDKTF QEDEKQKDYS HVRHFLPNDL EKSNGSNALD
MEKYLKKTEV SRYESALENF SRASMSDTWD LSLPKEQTTQ DIHPVDLSAT SVSVRAPEEN
TAAIVYVENG ESENQESFRT INSSNSVTNR ENNSAVVDVK TCSIDNKLQD VGNDEKATSI
STPSDSYSSV RNPRITSLCL LKDCEEIRDN RENQRQNECV SEISNSEKHV TFENHRIVSP
KNSDLKNTSP EHGGRGSEDE QESFRPSTSP LSHSSPSEIS GTSSSGCALE SFGSAAQQQQ
PPCEQELSPL VCSPAGVSRL TYVSEPESSY PTTATDDALE DRKSDITSEL STTIIQGSPA
ALEERAMEKL REKVPFQNRG KGTLSSIIQN NSDTRKATET TSLSSKPEYV KPDFRWSKDP
SSKSGNLLET SEVGWTSNPE ELDPIRLALL GKSGLSCQVG SATSHPVSCQ EPIDEDQRIS
PKDKSTAGRE FSGQVSHQTT SENQCTPIPS STVHSSVADM QNMPAAVHAL LTQPSLSAAP
FAQRYLGTLP STGSTTLPQC HAGNATVCGF SGGLPYPAVA GEPVQNSVAV GICLGSNIGS
GWMGTSSLCN PYSNTLNQNL LSTTKPFPVP SVGTNCGIEP WDSGVTSGLG SVRVPEELKL
PHACCVGIAS QTLLSVLNPT DRWLQVSIGV LSISVNGEKV DLSTYRCLVF KNKAIIRPHA
TEEIKVLFIP SSPGVFRCTF SVASWPCSTD AETIVQAEAL ASTVTLTAIA ESPVIEVETE
KKDVLDFGDL TYGGWKALPL KLINRTHATV PIRLIINANA VAWRCFTFSK ESVRAPVEVA
PCADVVTRLA GPSVVNHMMP ASYDGQDPEF LMIWVLFHSP KKQISSSDIL DSAEEFSAKV
DIEVDSPNPT PVLRSVSLRA RAGIARIHAP RDLQTMHFLA KVASSRKQHL PLKNAGNIEV
YLDIKVPEQG SHFSVDPKNL LLKPGEEHEV IVSFTPKDPE ACEERILKIF VQPFGPQYEV
VLKGEVISSG SKPLSPGPCL DIPSILSNKQ FLAWGGVPLG RTQLQKLALR NNSASTTQHL
RLLIRGQDQD CFQLQNTFGS EQRLTSNCEI RIHPKEDIFI SVLFAPTRLS CMLARLEIKQ
LGNRSQPGIK FTIPLSGYGG TSNLILEGVK KLSDSYMVTV NGLVPGKESK IVFSVRNTGS
RAAFVKAVGF KDSQKKVLLD PKVLRIFPDK FVLKERTQEN VTLIYNPSDR GINNKTATEL
STVYLFGGDE ISRQQYRRAL LHKPEMIKQI LPEHSVLQNI NFVEAFQDEL LVTEVYDLPQ
RPNDVQLFYG SMCKIILSVI GEFRDCISSR EFLQPSSKAS LESTSDLGAS GKHGGNVSLD
VLPVKGPQGS PLLSRAARPP LDQLASEEPW TVLPEHLILV APSPCDMAKT GRFQIVNNSV
RLLRFELCWP AHCLTVTPQH GCVAPESKLQ ILVSPNSSLS TKQSMFPWSG LIYIHCDDGQ
KKIVKVQIRE DLTQVELLTR LTSKPFGILS PVSEPSVSHL VKPMTKPPST KVEIRNKSIT
FPTTEPGETS ESCLELENHG TTDVKWHLSS LAPPYVKGVD ESGDVFRATY AAFRCSPISG
LLESHGIQKV SITFLPRGRG DYAQFWDVEC HPLKEPHMKH TLRFQLSGQS IEAENEPENA
CLSTDSLIKI DHLVKPRRQA VSEASARIPE QLDVTARGVY APEDVYRFRP TSVGESRTLK
VNLRNNSFIT HSLKFLSPRE PFYVKHSKYS LRAQHYINMP VQFKPKSAGK FEALLVIQTD
EGKSIAIRLI GEALGKN*

mutated AA sequence

MEDFRGIAEE SFPSFLTNSL FGNSGILENV TLSSNLGLPV AVSTLARDRS STDNRYPDIQ
ASYLVEGRFS VPSGSSPGSQ SDAEPRERLQ LSFQDDDSIS RKKSYVESQR LSNALSKQSA
LQMETAGPEE EPAGATESLQ GQDLFNRASP LEQAQDSPID FHLQSWMNNK EPKIVVLDAG
KHFEDKTLKS DLSHTSLLEN EKLILPTSLE DSSDDDIDDE MFYDDHLEAY FEQLAIPGMI
YEDLEGPEPP EKGFKLPTNG LRQANENGSL NCKFQSENNS SLISLDSHSS ETTHKESEES
QVICLPGTSN SIGTGDSRRY TDGMLPFSSG TWGTEKEIEN LKGIVPDLNS ECASKDVLVK
TLRAIDVKLN SDNFHDANAN RGGFDLTDPV KQGAECPHQN KTVLHMDGCL DTETPTVSIQ
ENVDVASLKP ISDSGINFTD AIWSPTCERR TCECHESIEK NKDKTDLPQS VVYQNEEGRW
VTDLAYYTSF NSKQNLNVSL SDEMNEDFRS GSEAFDLIAQ DEEEFNKEHQ FIQEENIDAH
NTSVALGDTS WGATINYSLL RKSRSTSDLD KDDASYLRLS LGEFFAQRSE ALGCLGGGNN
VKRPSFGYFI RSPEKREPIA LIRKSDVSRG NLEKEMAHLN HDLYSGDLNE QSQAQLSEGS
ITLQVEAVES TSQVDENDVT LTADKGKTED TFFMSNKPQR YKDKLPDSGD SMLRISTIAS
AIAEASVNTD PSQLAAMIKA LSNKTRDKTF QEDEKQKDYS HVRHFLPNDL EKSNGSNALD
MEKYLKKTEV SRYESALENF SRASMSDTWD LSLPKEQTTQ DIHPVDLSAT SVSVRAPEEN
TAAIVYVENG ESENQESFRT INSSNSVTNR ENNSAVVDVK TCSIDNKLQD VGNDEKATSI
STPSDSYSSV RNPRITSLCL LKDCEEIRDN RENQRQNECV SEISNSEKHV TFENHRIVSP
KNSDLKNTSP EHGGRGSEDE QESFRPSTSP LSHSSPSEIS GTSSSGCALE SFGSAAQQQQ
PPCEQELSPL VCSPAGVSRL TYVSEPESSY PTTATDDALE DRKSDITSEL STTIIQGSPA
ALEERAMEKL REKVPFQNRG KGTLSSIIQN NSDTRKATET TSLSSKPEYV KPDFRWSKDP
SSKSGNLLET SEVGWTSNPE ELDPIRLALL GKSGLSCQVG SATSHPVSCQ EPIDEDQRIS
PKDKSTAGRE FSGQVSHQTT SENQCTPIPS STVHSSVADM QNMPAAVHAL LTQPSLSAAP
FAQRYLGTLP STGSTTLPQC HAGNATVCGF SGGLPYPAVA GEPVQNSVAV GICLGSNIGS
GWMGTSSLCN PYSNTLNQNL LSTTKPFPVP SVGTNCGIEP WDSGVTSGLG SVRVPEELKL
PHACCVGIAS QTLLSVLNPT DRWLQVSIGV LSISVNGEKV DLSTYRCLVF KNKAIIRPHA
TEEIKVLFIP SSPGVFRCTF SVASWPCSTD AETIVQAEAL ASTVTLTAIA ESPVIEVETE
KKDVLDFGDL TYGGWKALPL KLINRTHATV PIRLIINANA VAWRCFTFSK EPVRAPVEVA
PCADVVTRLA GPSVVNHMMP ASYDGQDPEF LMIWVLFHSP KKQISSSDIL DSAEEFSAKV
DIEVDSPNPT PVLRSVSLRA RAGIARIHAP RDLQTMHFLA KVASSRKQHL PLKNAGNIEV
YLDIKVPEQG SHFSVDPKNL LLKPGEEHEV IVSFTPKDPE ACEERILKIF VQPFGPQYEV
VLKGEVISSG SKPLSPGPCL DIPSILSNKQ FLAWGGVPLG RTQLQKLALR NNSASTTQHL
RLLIRGQDQD CFQLQNTFGS EQRLTSNCEI RIHPKEDIFI SVLFAPTRLS CMLARLEIKQ
LGNRSQPGIK FTIPLSGYGG TSNLILEGVK KLSDSYMVTV NGLVPGKESK IVFSVRNTGS
RAAFVKAVGF KDSQKKVLLD PKVLRIFPDK FVLKERTQEN VTLIYNPSDR GINNKTATEL
STVYLFGGDE ISRQQYRRAL LHKPEMIKQI LPEHSVLQNI NFVEAFQDEL LVTEVYDLPQ
RPNDVQLFYG SMCKIILSVI GEFRDCISSR EFLQPSSKAS LESTSDLGAS GKHGGNVSLD
VLPVKGPQGS PLLSRAARPP LDQLASEEPW TVLPEHLILV APSPCDMAKT GRFQIVNNSV
RLLRFELCWP AHCLTVTPQH GCVAPESKLQ ILVSPNSSLS TKQSMFPWSG LIYIHCDDGQ
KKIVKVQIRE DLTQVELLTR LTSKPFGILS PVSEPSVSHL VKPMTKPPST KVEIRNKSIT
FPTTEPGETS ESCLELENHG TTDVKWHLSS LAPPYVKGVD ESGDVFRATY AAFRCSPISG
LLESHGIQKV SITFLPRGRG DYAQFWDVEC HPLKEPHMKH TLRFQLSGQS IEAENEPENA
CLSTDSLIKI DHLVKPRRQA VSEASARIPE QLDVTARGVY APEDVYRFRP TSVGESRTLK
VNLRNNSFIT HSLKFLSPRE PFYVKHSKYS LRAQHYINMP VQFKPKSAGK FEALLVIQTD
EGKSIAIRLI GEALGKN*

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: 0.993467357610941 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr18:13068132T>CN/A show variant in all transcripts IGV

HGNC symbol

CEP192

Ensembl transcript ID

ENST00000430049

Genbank transcript ID

N/A

UniProt peptide

Q8TEP8

alteration type

single base exchange

alteration region

CDS

DNA changes

c.3229T>C
cDNA.3270T>C
g.76772T>C

AA changes

S1077P Score: 74 explain score(s)

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

1077

frameshift

known variant

Reference ID: rs578208

database	homozygous (C/C)	heterozygous	allele carriers
1000G	1440	862	2302
ExAC	26966	-21165	5801

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.246	0.959
	3.989	1
(flanking)	5.569	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	76766	wt: 0.7787 / mu: 0.8373 (marginal change - not scored)	wt: GGCGCTGTTTCACGTTTTCCAAGGAATCCGTCCGAGCTCCT mu: GGCGCTGTTTCACGTTTTCCAAGGAACCCGTCCGAGCTCCT	tcca\|AGGA
Acc increased	76769	wt: 0.34 / mu: 0.48	wt: GCTGTTTCACGTTTTCCAAGGAATCCGTCCGAGCTCCTGTG mu: GCTGTTTCACGTTTTCCAAGGAACCCGTCCGAGCTCCTGTG	aagg\|AATC
Acc marginally increased	76767	wt: 0.7541 / mu: 0.8265 (marginal change - not scored)	wt: GCGCTGTTTCACGTTTTCCAAGGAATCCGTCCGAGCTCCTG mu: GCGCTGTTTCACGTTTTCCAAGGAACCCGTCCGAGCTCCTG	ccaa\|GGAA
Acc marginally increased	76765	wt: 0.8634 / mu: 0.8742 (marginal change - not scored)	wt: TGGCGCTGTTTCACGTTTTCCAAGGAATCCGTCCGAGCTCC mu: TGGCGCTGTTTCACGTTTTCCAAGGAACCCGTCCGAGCTCC	ttcc\|AAGG
Donor marginally increased	76775	wt: 0.8489 / mu: 0.8835 (marginal change - not scored)	wt: AATCCGTCCGAGCTC mu: AACCCGTCCGAGCTC	TCCG\|tccg
Donor increased	76767	wt: 0.66 / mu: 0.90	wt: TTCCAAGGAATCCGT mu: TTCCAAGGAACCCGT	CCAA\|ggaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

1077

mutated

not conserved

1077

Ptroglodytes

not conserved

ENSPTRG00000009886

956

Mmulatta

not conserved

ENSMMUG00000002512

950

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000024542

1527

Ggallus

not conserved

ENSGALG00000013880

604

Trubripes

not conserved

ENSTRUG00000012415

131

Drerio

not conserved

ENSDARG00000074974

929

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000019662

154

protein features

start (aa)	end (aa)	feature	details
1155	1155	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1159	1159	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1514	1514	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1519	1519	CONFLICT	R -> Q (in Ref. 2).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

6189 / 6189

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

2063 / 2063

position of stopcodon in wt / mu cDNA

6230 / 6230

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

42 / 42

chromosome

strand

last intron/exon boundary

6092

theoretical NMD boundary in CDS

6000

length of CDS

6189

coding sequence (CDS) position

3229

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

3270

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

76772

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

13068132

original gDNA sequence snippet

GTTTCACGTTTTCCAAGGAATCCGTCCGAGCTCCTGTGGAA

altered gDNA sequence snippet

GTTTCACGTTTTCCAAGGAACCCGTCCGAGCTCCTGTGGAA

original cDNA sequence snippet

GTTTCACGTTTTCCAAGGAATCCGTCCGAGCTCCTGTGGAA

altered cDNA sequence snippet

GTTTCACGTTTTCCAAGGAACCCGTCCGAGCTCCTGTGGAA

wildtype AA sequence

MDGCLDTETP TVSIQENVDV ASLKPISDSG INFTDAIWSP TCERRTCECH ESIEKNKDKT
DLPQSVVYQN EEGRWVTDLA YYTSFNSKQN LNVSLSDEMN EDFRSGSEAF DLIAQDEEEF
NKEHQFIQPS FGYFIRSPEK REPIALIRKS DVSRGNLEKE MAHLNHDLYS GDLNEQSQAQ
LSEGSITLQV EAVESTSQVD ENDVTLTADK GKTEDTFFMS NKPQRYKDKL PDSGDSMLRI
STIASAIAEA SVNTDPSQLA AMIKALSNKT RDKTFQEDEK QKDYSHVRHF LPNDLEKSNG
SNALDMEKYL KKTEVSRYES ALENFSRASM SDTWDLSLPK EQTTQDIHPV DLSATSVSVR
APEENTAAIV YVENGESENQ ESFRTINSSN SVTNRENNSA VVDVKTCSID NKLQDVGNDE
KATSISTPSD SYSSVRNPRI TSLCLLKDCE EIRDNRENQR QNECVSEISN SEKHVTFENH
RIVSPKNSDL KNTSPEHGGR GSEDEQESFR PSTSPLSHSS PSEISGTSSS GCALESFGSA
AQQQQPPCEQ ELSPLVCSPA GVSRLTYVSE PESSYPTTAT DDALEDRKSD ITSELSTTII
QGSPAALEER AMEKLREKVP FQNRGKGTLS SIIQNNSDTR KATETTSLSS KPEYVKPDFR
WSKDPSSKSG NLLETSEVGW TSNPEELDPI RLALLGKSGL SCQVGSATSH PVSCQEPIDE
DQRISPKDKS TAGREFSGQV SHQTTSENQC TPIPSSTVHS SVADMQNMPA AVHALLTQPS
LSAAPFAQRY LGTLPSTGST TLPQCHAGNA TVCGFSGGLP YPAVAGEPVQ NSVAVGICLG
SNIGSGWMGT SSLCNPYSNT LNQNLLSTTK PFPVPSVGTN CGIEPWDSGV TSGLGSVRVP
EELKLPHACC VGIASQTLLS VLNPTDRWLQ VSIGVLSISV NGEKVDLSTY RCLVFKNKAI
IRPHATEEIK VLFIPSSPGV FRCTFSVASW PCSTDAETIV QAEALASTVT LTAIAESPVI
EVETEKKDVL DFGDLTYGGW KALPLKLINR THATVPIRLI INANAVAWRC FTFSKESVRA
PVEVAPCADV VTRLAGPSVV NHMMPASYDG QDPEFLMIWV LFHSPKKQIS SSDILDSAEE
FSAKVDIEVD SPNPTPVLRS VSLRARAGIA RIHAPRDLQT MHFLAKVASS RKQHLPLKNA
GNIEVYLDIK VPEQGSHFSV DPKNLLLKPG EEHEVIVSFT PKDPEACEER ILKIFVQPFG
PQYEVVLKGE VISSGSKPLS PGPCLDIPSI LSNKQFLAWG GVPLGRTQLQ KLALRNNSAS
TTQHLRLLIR GQDQDCFQLQ NTFGSEQRLT SNCEIRIHPK EDIFISVLFA PTRLSCMLAR
LEIKQLGNRS QPGIKFTIPL SGYGGTSNLI LEGVKKLSDS YMVTVNGLVP GKESKIVFSV
RNTGSRAAFV KAVGFKDSQK KVLLDPKVLR IFPDKFVLKE RTQENVTLIY NPSDRGINNK
TATELSTVYL FGGDEISRQQ YRRALLHKPE MIKQILPEHS VLQNINFVEA FQDELLVTEV
YDLPQRPNDV QLFYGSMCKI ILSVIGEFRD CISSREFLQP SSKASLESTS DLGASGKHGG
NVSLDVLPVK GPQGSPLLSR AARPPLDQLA SEEPWTVLPE HLILVAPSPC DMAKTGRFQI
VNNSVRLLRF ELCWPAHCLT VTPQHGCVAP ESKLQILVSP NSSLSTKQSM FPWSGLIYIH
CDDGQKKIVK VQIREDLTQV ELLTRLTSKP FGILSPVSEP SVSHLVKPMT KPPSTKVEIR
NKSITFPTTE PGETSESCLE LENHGTTDVK WHLSSLAPPY VKGVDESGDV FRATYAAFRC
SPISGLLESH GIQKVSITFL PRGRGDYAQF WDVECHPLKE PHMKHTLRFQ LSGQSIEAEN
EPENACLSTD SLIKIDHLVK PRRQAVSEAS ARIPEQLDVT ARGVYAPEDV YRFRPTSVGE
SRTLKVNLRN NSFITHSLKF LSPREPFYVK HSKYSLRAQH YINMPVQFKP KSAGKFEALL
VIQTDEGKSI AIRLIGEALG KN*

mutated AA sequence

MDGCLDTETP TVSIQENVDV ASLKPISDSG INFTDAIWSP TCERRTCECH ESIEKNKDKT
DLPQSVVYQN EEGRWVTDLA YYTSFNSKQN LNVSLSDEMN EDFRSGSEAF DLIAQDEEEF
NKEHQFIQPS FGYFIRSPEK REPIALIRKS DVSRGNLEKE MAHLNHDLYS GDLNEQSQAQ
LSEGSITLQV EAVESTSQVD ENDVTLTADK GKTEDTFFMS NKPQRYKDKL PDSGDSMLRI
STIASAIAEA SVNTDPSQLA AMIKALSNKT RDKTFQEDEK QKDYSHVRHF LPNDLEKSNG
SNALDMEKYL KKTEVSRYES ALENFSRASM SDTWDLSLPK EQTTQDIHPV DLSATSVSVR
APEENTAAIV YVENGESENQ ESFRTINSSN SVTNRENNSA VVDVKTCSID NKLQDVGNDE
KATSISTPSD SYSSVRNPRI TSLCLLKDCE EIRDNRENQR QNECVSEISN SEKHVTFENH
RIVSPKNSDL KNTSPEHGGR GSEDEQESFR PSTSPLSHSS PSEISGTSSS GCALESFGSA
AQQQQPPCEQ ELSPLVCSPA GVSRLTYVSE PESSYPTTAT DDALEDRKSD ITSELSTTII
QGSPAALEER AMEKLREKVP FQNRGKGTLS SIIQNNSDTR KATETTSLSS KPEYVKPDFR
WSKDPSSKSG NLLETSEVGW TSNPEELDPI RLALLGKSGL SCQVGSATSH PVSCQEPIDE
DQRISPKDKS TAGREFSGQV SHQTTSENQC TPIPSSTVHS SVADMQNMPA AVHALLTQPS
LSAAPFAQRY LGTLPSTGST TLPQCHAGNA TVCGFSGGLP YPAVAGEPVQ NSVAVGICLG
SNIGSGWMGT SSLCNPYSNT LNQNLLSTTK PFPVPSVGTN CGIEPWDSGV TSGLGSVRVP
EELKLPHACC VGIASQTLLS VLNPTDRWLQ VSIGVLSISV NGEKVDLSTY RCLVFKNKAI
IRPHATEEIK VLFIPSSPGV FRCTFSVASW PCSTDAETIV QAEALASTVT LTAIAESPVI
EVETEKKDVL DFGDLTYGGW KALPLKLINR THATVPIRLI INANAVAWRC FTFSKEPVRA
PVEVAPCADV VTRLAGPSVV NHMMPASYDG QDPEFLMIWV LFHSPKKQIS SSDILDSAEE
FSAKVDIEVD SPNPTPVLRS VSLRARAGIA RIHAPRDLQT MHFLAKVASS RKQHLPLKNA
GNIEVYLDIK VPEQGSHFSV DPKNLLLKPG EEHEVIVSFT PKDPEACEER ILKIFVQPFG
PQYEVVLKGE VISSGSKPLS PGPCLDIPSI LSNKQFLAWG GVPLGRTQLQ KLALRNNSAS
TTQHLRLLIR GQDQDCFQLQ NTFGSEQRLT SNCEIRIHPK EDIFISVLFA PTRLSCMLAR
LEIKQLGNRS QPGIKFTIPL SGYGGTSNLI LEGVKKLSDS YMVTVNGLVP GKESKIVFSV
RNTGSRAAFV KAVGFKDSQK KVLLDPKVLR IFPDKFVLKE RTQENVTLIY NPSDRGINNK
TATELSTVYL FGGDEISRQQ YRRALLHKPE MIKQILPEHS VLQNINFVEA FQDELLVTEV
YDLPQRPNDV QLFYGSMCKI ILSVIGEFRD CISSREFLQP SSKASLESTS DLGASGKHGG
NVSLDVLPVK GPQGSPLLSR AARPPLDQLA SEEPWTVLPE HLILVAPSPC DMAKTGRFQI
VNNSVRLLRF ELCWPAHCLT VTPQHGCVAP ESKLQILVSP NSSLSTKQSM FPWSGLIYIH
CDDGQKKIVK VQIREDLTQV ELLTRLTSKP FGILSPVSEP SVSHLVKPMT KPPSTKVEIR
NKSITFPTTE PGETSESCLE LENHGTTDVK WHLSSLAPPY VKGVDESGDV FRATYAAFRC
SPISGLLESH GIQKVSITFL PRGRGDYAQF WDVECHPLKE PHMKHTLRFQ LSGQSIEAEN
EPENACLSTD SLIKIDHLVK PRRQAVSEAS ARIPEQLDVT ARGVYAPEDV YRFRPTSVGE
SRTLKVNLRN NSFITHSLKF LSPREPFYVK HSKYSLRAQH YINMPVQFKP KSAGKFEALL
VIQTDEGKSI AIRLIGEALG KN*

speed

0.46 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.993467357610941 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr18:13068132T>CN/A show variant in all transcripts IGV

HGNC symbol

CEP192

Ensembl transcript ID

ENST00000325971

Genbank transcript ID

N/A

UniProt peptide

Q8TEP8

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2866T>C
cDNA.4459T>C
g.76772T>C

AA changes

S956P Score: 74 explain score(s)

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

956

frameshift

known variant

Reference ID: rs578208

database	homozygous (C/C)	heterozygous	allele carriers
1000G	1440	862	2302
ExAC	26966	-21165	5801

regulatory features

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.246	0.959
	3.989	1
(flanking)	5.569	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	76766	wt: 0.7787 / mu: 0.8373 (marginal change - not scored)	wt: GGCGCTGTTTCACGTTTTCCAAGGAATCCGTCCGAGCTCCT mu: GGCGCTGTTTCACGTTTTCCAAGGAACCCGTCCGAGCTCCT	tcca\|AGGA
Acc increased	76769	wt: 0.34 / mu: 0.48	wt: GCTGTTTCACGTTTTCCAAGGAATCCGTCCGAGCTCCTGTG mu: GCTGTTTCACGTTTTCCAAGGAACCCGTCCGAGCTCCTGTG	aagg\|AATC
Acc marginally increased	76767	wt: 0.7541 / mu: 0.8265 (marginal change - not scored)	wt: GCGCTGTTTCACGTTTTCCAAGGAATCCGTCCGAGCTCCTG mu: GCGCTGTTTCACGTTTTCCAAGGAACCCGTCCGAGCTCCTG	ccaa\|GGAA
Acc marginally increased	76765	wt: 0.8634 / mu: 0.8742 (marginal change - not scored)	wt: TGGCGCTGTTTCACGTTTTCCAAGGAATCCGTCCGAGCTCC mu: TGGCGCTGTTTCACGTTTTCCAAGGAACCCGTCCGAGCTCC	ttcc\|AAGG
Donor marginally increased	76775	wt: 0.8489 / mu: 0.8835 (marginal change - not scored)	wt: AATCCGTCCGAGCTC mu: AACCCGTCCGAGCTC	TCCG\|tccg
Donor increased	76767	wt: 0.66 / mu: 0.90	wt: TTCCAAGGAATCCGT mu: TTCCAAGGAACCCGT	CCAA\|ggaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

956

mutated

not conserved

956

Ptroglodytes

not conserved

ENSPTRG00000009886

956

Mmulatta

not conserved

ENSMMUG00000002512

950

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000024542

1527

Ggallus

not conserved

ENSGALG00000013880

604

Trubripes

not conserved

ENSTRUG00000012415

131

Drerio

not conserved

ENSDARG00000074974

929

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000019662

154

protein features

start (aa)	end (aa)	feature	details
1155	1155	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1159	1159	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1514	1514	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1519	1519	CONFLICT	R -> Q (in Ref. 2).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

5826 / 5826

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

1942 / 1942

position of stopcodon in wt / mu cDNA

7419 / 7419

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

1594 / 1594

chromosome

strand

last intron/exon boundary

7281

theoretical NMD boundary in CDS

5637

length of CDS

5826

coding sequence (CDS) position

2866

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

4459

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

76772

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

13068132

original gDNA sequence snippet

GTTTCACGTTTTCCAAGGAATCCGTCCGAGCTCCTGTGGAA

altered gDNA sequence snippet

GTTTCACGTTTTCCAAGGAACCCGTCCGAGCTCCTGTGGAA

original cDNA sequence snippet

GTTTCACGTTTTCCAAGGAATCCGTCCGAGCTCCTGTGGAA

altered cDNA sequence snippet

GTTTCACGTTTTCCAAGGAACCCGTCCGAGCTCCTGTGGAA

wildtype AA sequence

MKTSDLVPSF GYFIRSPEKR EPIALIRKSD VSRGNLEKEM AHLNHDLYSG DLNEQSQAQL
SEGSITLQVE AVESTSQVDE NDVTLTADKG KTEDTFFMSN KPQRYKDKLP DSGDSMLRIS
TIASAIAEAS VNTDPSQLAA MIKALSNKTR DKTFQEDEKQ KDYSHVRHFL PNDLEKSNGS
NALDMEKYLK KTEVSRYESA LENFSRASMS DTWDLSLPKE QTTQDIHPVD LSATSVSVRA
PEENTAAIVY VENGESENQE SFRTINSSNS VTNRENNSAV VDVKTCSIDN KLQDVGNDEK
ATSISTPSDS YSSVRNPRIT SLCLLKDCEE IRDNRENQRQ NECVSEISNS EKHVTFENHR
IVSPKNSDLK NTSPEHGGRG SEDEQESFRP STSPLSHSSP SEISGTSSSG CALESFGSAA
QQQQPPCEQE LSPLVCSPAG VSRLTYVSEP ESSYPTTATD DALEDRKSDI TSELSTTIIQ
GSPAALEERA MEKLREKVPF QNRGKGTLSS IIQNNSDTRK ATETTSLSSK PEYVKPDFRW
SKDPSSKSGN LLETSEVGWT SNPEELDPIR LALLGKSGLS CQVGSATSHP VSCQEPIDED
QRISPKDKST AGREFSGQVS HQTTSENQCT PIPSSTVHSS VADMQNMPAA VHALLTQPSL
SAAPFAQRYL GTLPSTGSTT LPQCHAGNAT VCGFSGGLPY PAVAGEPVQN SVAVGICLGS
NIGSGWMGTS SLCNPYSNTL NQNLLSTTKP FPVPSVGTNC GIEPWDSGVT SGLGSVRVPE
ELKLPHACCV GIASQTLLSV LNPTDRWLQV SIGVLSISVN GEKVDLSTYR CLVFKNKAII
RPHATEEIKV LFIPSSPGVF RCTFSVASWP CSTDAETIVQ AEALASTVTL TAIAESPVIE
VETEKKDVLD FGDLTYGGWK ALPLKLINRT HATVPIRLII NANAVAWRCF TFSKESVRAP
VEVAPCADVV TRLAGPSVVN HMMPASYDGQ DPEFLMIWVL FHSPKKQISS SDILDSAEEF
SAKVDIEVDS PNPTPVLRSV SLRARAGIAR IHAPRDLQTM HFLAKVASSR KQHLPLKNAG
NIEVYLDIKV PEQGSHFSVD PKNLLLKPGE EHEVIVSFTP KDPEACEERI LKIFVQPFGP
QYEVVLKGEV ISSGSKPLSP GPCLDIPSIL SNKQFLAWGG VPLGRTQLQK LALRNNSAST
TQHLRLLIRG QDQDCFQLQN TFGSEQRLTS NCEIRIHPKE DIFISVLFAP TRLSCMLARL
EIKQLGNRSQ PGIKFTIPLS GYGGTSNLIL EGVKKLSDSY MVTVNGLVPG KESKIVFSVR
NTGSRAAFVK AVGFKDSQKK VLLDPKVLRI FPDKFVLKER TQENVTLIYN PSDRGINNKT
ATELSTVYLF GGDEISRQQY RRALLHKPEM IKQILPEHSV LQNINFVEAF QDELLVTEVY
DLPQRPNDVQ LFYGSMCKII LSVIGEFRDC ISSREFLQPS SKASLESTSD LGASGKHGGN
VSLDVLPVKG PQGSPLLSRA ARPPLDQLAS EEPWTVLPEH LILVAPSPCD MAKTGRFQIV
NNSVRLLRFE LCWPAHCLTV TPQHGCVAPE SKLQILVSPN SSLSTKQSMF PWSGLIYIHC
DDGQKKIVKV QIREDLTQVE LLTRLTSKPF GILSPVSEPS VSHLVKPMTK PPSTKVEIRN
KSITFPTTEP GETSESCLEL ENHGTTDVKW HLSSLAPPYV KGVDESGDVF RATYAAFRCS
PISGLLESHG IQKVSITFLP RGRGDYAQFW DVECHPLKEP HMKHTLRFQL SGQSIEAENE
PENACLSTDS LIKIDHLVKP RRQAVSEASA RIPEQLDVTA RGVYAPEDVY RFRPTSVGES
RTLKVNLRNN SFITHSLKFL SPREPFYVKH SKYSLRAQHY INMPVQFKPK SAGKFEALLV
IQTDEGKSIA IRLIGEALGK N*

mutated AA sequence

MKTSDLVPSF GYFIRSPEKR EPIALIRKSD VSRGNLEKEM AHLNHDLYSG DLNEQSQAQL
SEGSITLQVE AVESTSQVDE NDVTLTADKG KTEDTFFMSN KPQRYKDKLP DSGDSMLRIS
TIASAIAEAS VNTDPSQLAA MIKALSNKTR DKTFQEDEKQ KDYSHVRHFL PNDLEKSNGS
NALDMEKYLK KTEVSRYESA LENFSRASMS DTWDLSLPKE QTTQDIHPVD LSATSVSVRA
PEENTAAIVY VENGESENQE SFRTINSSNS VTNRENNSAV VDVKTCSIDN KLQDVGNDEK
ATSISTPSDS YSSVRNPRIT SLCLLKDCEE IRDNRENQRQ NECVSEISNS EKHVTFENHR
IVSPKNSDLK NTSPEHGGRG SEDEQESFRP STSPLSHSSP SEISGTSSSG CALESFGSAA
QQQQPPCEQE LSPLVCSPAG VSRLTYVSEP ESSYPTTATD DALEDRKSDI TSELSTTIIQ
GSPAALEERA MEKLREKVPF QNRGKGTLSS IIQNNSDTRK ATETTSLSSK PEYVKPDFRW
SKDPSSKSGN LLETSEVGWT SNPEELDPIR LALLGKSGLS CQVGSATSHP VSCQEPIDED
QRISPKDKST AGREFSGQVS HQTTSENQCT PIPSSTVHSS VADMQNMPAA VHALLTQPSL
SAAPFAQRYL GTLPSTGSTT LPQCHAGNAT VCGFSGGLPY PAVAGEPVQN SVAVGICLGS
NIGSGWMGTS SLCNPYSNTL NQNLLSTTKP FPVPSVGTNC GIEPWDSGVT SGLGSVRVPE
ELKLPHACCV GIASQTLLSV LNPTDRWLQV SIGVLSISVN GEKVDLSTYR CLVFKNKAII
RPHATEEIKV LFIPSSPGVF RCTFSVASWP CSTDAETIVQ AEALASTVTL TAIAESPVIE
VETEKKDVLD FGDLTYGGWK ALPLKLINRT HATVPIRLII NANAVAWRCF TFSKEPVRAP
VEVAPCADVV TRLAGPSVVN HMMPASYDGQ DPEFLMIWVL FHSPKKQISS SDILDSAEEF
SAKVDIEVDS PNPTPVLRSV SLRARAGIAR IHAPRDLQTM HFLAKVASSR KQHLPLKNAG
NIEVYLDIKV PEQGSHFSVD PKNLLLKPGE EHEVIVSFTP KDPEACEERI LKIFVQPFGP
QYEVVLKGEV ISSGSKPLSP GPCLDIPSIL SNKQFLAWGG VPLGRTQLQK LALRNNSAST
TQHLRLLIRG QDQDCFQLQN TFGSEQRLTS NCEIRIHPKE DIFISVLFAP TRLSCMLARL
EIKQLGNRSQ PGIKFTIPLS GYGGTSNLIL EGVKKLSDSY MVTVNGLVPG KESKIVFSVR
NTGSRAAFVK AVGFKDSQKK VLLDPKVLRI FPDKFVLKER TQENVTLIYN PSDRGINNKT
ATELSTVYLF GGDEISRQQY RRALLHKPEM IKQILPEHSV LQNINFVEAF QDELLVTEVY
DLPQRPNDVQ LFYGSMCKII LSVIGEFRDC ISSREFLQPS SKASLESTSD LGASGKHGGN
VSLDVLPVKG PQGSPLLSRA ARPPLDQLAS EEPWTVLPEH LILVAPSPCD MAKTGRFQIV
NNSVRLLRFE LCWPAHCLTV TPQHGCVAPE SKLQILVSPN SSLSTKQSMF PWSGLIYIHC
DDGQKKIVKV QIREDLTQVE LLTRLTSKPF GILSPVSEPS VSHLVKPMTK PPSTKVEIRN
KSITFPTTEP GETSESCLEL ENHGTTDVKW HLSSLAPPYV KGVDESGDVF RATYAAFRCS
PISGLLESHG IQKVSITFLP RGRGDYAQFW DVECHPLKEP HMKHTLRFQL SGQSIEAENE
PENACLSTDS LIKIDHLVKP RRQAVSEASA RIPEQLDVTA RGVYAPEDVY RFRPTSVGES
RTLKVNLRNN SFITHSLKFL SPREPFYVKH SKYSLRAQHY INMPVQFKPK SAGKFEALLV
IQTDEGKSIA IRLIGEALGK N*

speed

0.49 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