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 13 transcript(s)...
Querying Taster for transcript #1: ENST00000369005
Querying Taster for transcript #2: ENST00000513429
Querying Taster for transcript #3: ENST00000515273
Querying Taster for transcript #4: ENST00000515603
Querying Taster for transcript #5: ENST00000369001
Querying Taster for transcript #6: ENST00000369000
Querying Taster for transcript #7: ENST00000360561
Querying Taster for transcript #8: ENST00000368999
Querying Taster for transcript #9: ENST00000369004
Querying Taster for transcript #10: ENST00000260733
Querying Taster for transcript #11: ENST00000334433
Querying Taster for transcript #12: ENST00000358010
Querying Taster for transcript #13: ENST00000453444
MT speed 0 s - this script 8.769399 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
TACC2	polymorphism_automatic	5.35016475566863e-13	simple_aae		affected		A2659T	single base exchange	rs2295879		show file
TACC2	polymorphism_automatic	5.35016475566863e-13	simple_aae		affected		A2610T	single base exchange	rs2295879		show file
TACC2	polymorphism_automatic	5.35016475566863e-13	simple_aae		affected		A359T	single base exchange	rs2295879		show file
TACC2	polymorphism_automatic	5.35016475566863e-13	simple_aae		affected		A355T	single base exchange	rs2295879		show file
TACC2	polymorphism_automatic	5.35016475566863e-13	simple_aae		affected		A2659T	single base exchange	rs2295879		show file
TACC2	polymorphism_automatic	2.35207964216499e-10	simple_aae		affected		A2732T	single base exchange	rs2295879		show file
TACC2	polymorphism_automatic	2.35207964216499e-10	simple_aae		affected		A878T	single base exchange	rs2295879		show file
TACC2	polymorphism_automatic	2.35207964216499e-10	simple_aae		affected		A780T	single base exchange	rs2295879		show file
TACC2	polymorphism_automatic	2.35207964216499e-10	simple_aae		affected		A792T	single base exchange	rs2295879		show file
TACC2	polymorphism_automatic	2.35207964216499e-10	simple_aae		affected		A2732T	single base exchange	rs2295879		show file
TACC2	polymorphism_automatic	2.35207964216499e-10	simple_aae		affected		A878T	single base exchange	rs2295879		show file
TACC2	polymorphism_automatic	8.87658946346903e-10	simple_aae		affected		A822T	single base exchange	rs2295879		show file
TACC2	polymorphism_automatic	8.87658946346903e-10	simple_aae		affected		A810T	single base exchange	rs2295879		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999465 (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)

chr10:123996976G>AN/A show variant in all transcripts IGV

HGNC symbol

TACC2

Ensembl transcript ID

ENST00000515273

Genbank transcript ID

N/A

UniProt peptide

O95359

alteration type

single base exchange

alteration region

CDS

DNA changes

c.7975G>A
cDNA.8303G>A
g.248288G>A

AA changes

A2659T Score: 58 explain score(s)

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

2659

frameshift

known variant

Reference ID: rs2295879

database	homozygous (A/A)	heterozygous	allele carriers
1000G	194	960	1154
ExAC	5843	21081	26924

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.891	0
	-0.382	0.001
(flanking)	3.684	0.031

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	248282	wt: 0.8313 / mu: 0.8516 (marginal change - not scored)	wt: CAGCCTTGTACTCCCGCATCGGGACCGCTGAGGTGGAGAAA mu: CAGCCTTGTACTCCCGCATCGGGACCACTGAGGTGGAGAAA	atcg\|GGAC
Acc increased	248278	wt: 0.55 / mu: 0.61	wt: AAAACAGCCTTGTACTCCCGCATCGGGACCGCTGAGGTGGA mu: AAAACAGCCTTGTACTCCCGCATCGGGACCACTGAGGTGGA	ccgc\|ATCG
Donor marginally increased	248293	wt: 0.9307 / mu: 0.9811 (marginal change - not scored)	wt: GCTGAGGTGGAGAAA mu: ACTGAGGTGGAGAAA	TGAG\|gtgg
Donor increased	248288	wt: 0.40 / mu: 0.91	wt: GGACCGCTGAGGTGG mu: GGACCACTGAGGTGG	ACCG\|ctga
Donor gained	248290	0.44	mu: ACCACTGAGGTGGAG	CACT\|gagg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

2659

mutated

not conserved

2659

Ptroglodytes

not conserved

ENSPTRG00000003008

2635

ASLCGALDYLEPDL

Mmulatta

not conserved

ENSMMUG00000013033

2634

ASLCGALDYLEPDL

Fcatus

all identical

ENSFCAG00000003650

2548

Mmusculus

not conserved

ENSMUSG00000030852

2586

AHPAS

EPDL

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000062790

1055

Dmelanogaster

not conserved

FBgn0026620

1079

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000015587

683

protein features

start (aa)	end (aa)	feature	details
2675	2703	COILED	Potential.	might get lost (downstream of altered splice site)
2746	2947	COILED	Potential.	might get lost (downstream of altered splice site)
2884	2884	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
2896	2896	CONFLICT	R -> Q (in Ref. 3; AAO62629/AAO62630).	might get lost (downstream of altered splice site)
2909	2909	CONFLICT	S -> T (in Ref. 5; AAH39311).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

8628 / 8628

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

2876 / 2876

position of stopcodon in wt / mu cDNA

8956 / 8956

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

last intron/exon boundary

8891

theoretical NMD boundary in CDS

8512

length of CDS

8628

coding sequence (CDS) position

7975

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

8303

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

248288

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

123996976

original gDNA sequence snippet

TGTACTCCCGCATCGGGACCGCTGAGGTGGAGAAACCTGCA

altered gDNA sequence snippet

TGTACTCCCGCATCGGGACCACTGAGGTGGAGAAACCTGCA

original cDNA sequence snippet

TGTACTCCCGCATCGGGACCGCTGAGGTGGAGAAACCTGCA

altered cDNA sequence snippet

TGTACTCCCGCATCGGGACCACTGAGGTGGAGAAACCTGCA

wildtype AA sequence

MGNENSTSDN QRTLSAQTPR SAQPPGNSQN IKRKQQDTPG SPDHRDASSI GSVGLGGFCT
ASESSASLDP CLVSPEVTEP RKDPQGARGP EGSLLPSPPP SQEREHPSSS MPFAECPPEG
CLASPAAAPE DGPQTQSPRR EPAPNAPGDI AAAFPAERDS STPYQEIAAV PSAGRERQPK
EEGQKSSFSF SSGIDQSPGM SPVPLREPMK APLCGEGDQP GGFESQEKEA AGGFPPAESR
QGVASVQVTP EAPAAAQQGT ESSAVLEKSP LKPMAPIPQD PAPRASDRER GQGEAPPQYL
TDDLEFLRAC HLPRSNSGAA PEAEVNAASQ ESCQQPVGAY LPHAELPWGL PSPALVPEAG
GSGKEALDTI DVQGHPQTGM RGTKPNQVVC VAAGGQPEGG LPVSPEPSLL TPTEEAHPAS
SLASFPAAQI PIAVEEPGSS SRESVSKAGM PVSADAAKEV VDAGLVGLER QVSDLGSKGE
HPEGDPGEVP APSPQERGEH LNTEQSHEVQ PGVPPPPLPK EQSHEVQPGA PPPPLPKAPS
ESARGPPGPT DGAKVHEDST SPAVAKEGSR SPGDSPGGKE EAPEPPDGGD PGNLQGEDSQ
AFSSKRDPEV GKDELSKPSS DAESRDHPSS HSAQPPRKGG AGHTDGPHSQ TAEADASGLP
HKLGEEDPVL PPVPDGAGEP TVPEGAIWEG SGLQPKCPDT LQSREGLGRM ESFLTLESEK
SDFPPTPVAE VAPKAQEGES TLEIRKMGSC DGEGLLTSPD QPRGPACDAS RQEFHAGVPH
PPQGENLAAD LGLTALILDQ DQQGIPSCPG EGWIRGAASE WPLLSSEKHL QPSQAQPETS
IFDVLKEQAQ PPENGKETSP SHPGFKDQGA DSSQIHVPVE PQEDNNLPTH GGQEQALGSE
LQSQLPKGTL SDTPTSSPTD MVWESSLTEE SELSAPTRQK LPALGEKRPE GACGDGQSSR
VSPPAADVLK DFSLAGNFSR KETCCTGQGP NKSQQALADA LEEGSQHEEA CQRHPGASEA
ADGCSPLWGL SKREMASGNT GEAPPCQPDS VALLDAVPCL PALAPASPGV TPTQDAPETE
ACDETQEGRQ QPVPAPQQKM ECWATSDAES PKLLASFPSA GEQGGEAGAA ETGGSAGAGD
PGKQQAPEKP GEATLSCGLL QTEHCLTSGE EASTSALRES CQAEHPMASC QDALLPAREL
GGIPRSTMDF STHQAVPDPK ELLLSGPPEV AAPDTPYLHV DSAAQRGAED SGVKAVSSAD
PRAPGESPCP VGEPPLALEN AASLKLFAGS LAPLLQPGAA GGEIPAVQAS SGSPKARTTE
GPVDSMPCLD RMPLLAKGKQ ATGEEKAATA PGAGAKASGE GMAGDAAGET EGSMERMGEP
SQDPKQGTSG GVDTSSEQIA TLTGFPDFRE HIAKIFEKPV LGALATPGEK AGAGRSAVGK
DLTRPLGPEK LLDGPPGVDV TLLPAPPARL QVEKKQQLAG EAEISHLALQ DPASDKLLGP
AGLTWERNLP GAGVGKEMAG VPPTLREDER PEGPGAAWPG LEGQAYSQLE RSRQELASGL
PSPAATQELP VERAAAFQVA PHSHGEEAVA QDRIPSGKQH QETSACDSPH GEDGPGDFAH
TGVPGHVPRS TCAPSPQREV LTVPEANSEP WTLDTLGGER RPGVTAGILE MRNALGNQST
PAPPTGEVAD TPLEPGKVAG AAGEAEGDIT LSTAETQACA SGDLPEAGTT RTFSVVAGDL
VLPGSCQDPA CSDKAPGMEG TAALHGDSPA RPQQAKEQPG PERPIPAGDG KVCVSSPPEP
DETHDPKLQH LAPEELHTDR ESPRPGPSML PSVPKKDAPR VMDKVTSDET RGAEGTERSA
KDIGLWKAMM PSLDTDTLDV LERRVVLIQH EFLHKKEANG HSRFMYSSPV ADDIIQPAAP
ADLESPTLAA SSYHGDVVGQ VSTDLIAQRS SDSEEAFETP ESTTPVKAPP APPPPPPEVI
PEPEVSTQPP PEEPGCGSET VPVPDGPRSD SVEGSPFRPP SHSFSAVFDE DKPIASSGTY
NLDFDNIELV DTFQTLEPRA SDAKNQEGKV NTRRKSTDSV PISKSTLSRS LSLQASDFDG
ASSSGNPEAV ALAPDAYSTG SSSASSTLKR TKKPRPPSLK KKQTTKKPTE TPPVKETQQE
PDEESLVPSG ENLASETKTE SAKTEGPSPA LLEETPLEPA VGPKAACPLD SESAEGVVPP
ASGGGRVQNS PPVGRKTLPL TTAPEAGEVT PSDSGGQEDS PAKGLSVRLE FDYSEDKSSW
DNQQENPPPT KKIGKKPVAK MPLRRPKMKK TPEKLDNTPA SPPRSPAEPN DIPIAKGTYT
FDIDKWDDPN FNPFSSTSKM QESPKLPQQS YNFDPDTCDE SVDPFKTSSK TPSSPSKSPA
SFEIPASAME ANGVDGDGLN KPAKKKKTPL KTDTFRVKKS PKRSPLSDPP SQDPTPAATP
ETPPVISAVV HATDEEKLAV TNQKWTCMTV DLEADKQDYP QPSDLSTFVN ETKFSSPTEE
LDYRNSYEIE YMEKIGSSLP QDDDAPKKQA LYLMFDTSQE SPVKSSPVRM SESPTPCSGS
SFEETEALVN TAAKNQHPVP RGLAPNQESH LQVPEKSSQK ELEAMGLGTP SEAIEIREAA
HPTDVSISKT ALYSRIGTAE VEKPAGLLFQ QPDLDSALQI ARAEIITKER EVSEWKDKYE
ESRREVMEMR KIVAEYEKTI AQMIEDEQRE KSVSHQTVQQ LVLEKEQALA DLNSVEKSLA
DLFRRYEKMK EVLEGFRKNE EVLKRCAQEY LSRVKKEEQR YQALKVHAEE KLDRANAEIA
QVRGKAQQEQ AAHQASLRKE QLRVDALERT LEQKNKEIEE LTKICDELIA KMGKS*

mutated AA sequence

MGNENSTSDN QRTLSAQTPR SAQPPGNSQN IKRKQQDTPG SPDHRDASSI GSVGLGGFCT
ASESSASLDP CLVSPEVTEP RKDPQGARGP EGSLLPSPPP SQEREHPSSS MPFAECPPEG
CLASPAAAPE DGPQTQSPRR EPAPNAPGDI AAAFPAERDS STPYQEIAAV PSAGRERQPK
EEGQKSSFSF SSGIDQSPGM SPVPLREPMK APLCGEGDQP GGFESQEKEA AGGFPPAESR
QGVASVQVTP EAPAAAQQGT ESSAVLEKSP LKPMAPIPQD PAPRASDRER GQGEAPPQYL
TDDLEFLRAC HLPRSNSGAA PEAEVNAASQ ESCQQPVGAY LPHAELPWGL PSPALVPEAG
GSGKEALDTI DVQGHPQTGM RGTKPNQVVC VAAGGQPEGG LPVSPEPSLL TPTEEAHPAS
SLASFPAAQI PIAVEEPGSS SRESVSKAGM PVSADAAKEV VDAGLVGLER QVSDLGSKGE
HPEGDPGEVP APSPQERGEH LNTEQSHEVQ PGVPPPPLPK EQSHEVQPGA PPPPLPKAPS
ESARGPPGPT DGAKVHEDST SPAVAKEGSR SPGDSPGGKE EAPEPPDGGD PGNLQGEDSQ
AFSSKRDPEV GKDELSKPSS DAESRDHPSS HSAQPPRKGG AGHTDGPHSQ TAEADASGLP
HKLGEEDPVL PPVPDGAGEP TVPEGAIWEG SGLQPKCPDT LQSREGLGRM ESFLTLESEK
SDFPPTPVAE VAPKAQEGES TLEIRKMGSC DGEGLLTSPD QPRGPACDAS RQEFHAGVPH
PPQGENLAAD LGLTALILDQ DQQGIPSCPG EGWIRGAASE WPLLSSEKHL QPSQAQPETS
IFDVLKEQAQ PPENGKETSP SHPGFKDQGA DSSQIHVPVE PQEDNNLPTH GGQEQALGSE
LQSQLPKGTL SDTPTSSPTD MVWESSLTEE SELSAPTRQK LPALGEKRPE GACGDGQSSR
VSPPAADVLK DFSLAGNFSR KETCCTGQGP NKSQQALADA LEEGSQHEEA CQRHPGASEA
ADGCSPLWGL SKREMASGNT GEAPPCQPDS VALLDAVPCL PALAPASPGV TPTQDAPETE
ACDETQEGRQ QPVPAPQQKM ECWATSDAES PKLLASFPSA GEQGGEAGAA ETGGSAGAGD
PGKQQAPEKP GEATLSCGLL QTEHCLTSGE EASTSALRES CQAEHPMASC QDALLPAREL
GGIPRSTMDF STHQAVPDPK ELLLSGPPEV AAPDTPYLHV DSAAQRGAED SGVKAVSSAD
PRAPGESPCP VGEPPLALEN AASLKLFAGS LAPLLQPGAA GGEIPAVQAS SGSPKARTTE
GPVDSMPCLD RMPLLAKGKQ ATGEEKAATA PGAGAKASGE GMAGDAAGET EGSMERMGEP
SQDPKQGTSG GVDTSSEQIA TLTGFPDFRE HIAKIFEKPV LGALATPGEK AGAGRSAVGK
DLTRPLGPEK LLDGPPGVDV TLLPAPPARL QVEKKQQLAG EAEISHLALQ DPASDKLLGP
AGLTWERNLP GAGVGKEMAG VPPTLREDER PEGPGAAWPG LEGQAYSQLE RSRQELASGL
PSPAATQELP VERAAAFQVA PHSHGEEAVA QDRIPSGKQH QETSACDSPH GEDGPGDFAH
TGVPGHVPRS TCAPSPQREV LTVPEANSEP WTLDTLGGER RPGVTAGILE MRNALGNQST
PAPPTGEVAD TPLEPGKVAG AAGEAEGDIT LSTAETQACA SGDLPEAGTT RTFSVVAGDL
VLPGSCQDPA CSDKAPGMEG TAALHGDSPA RPQQAKEQPG PERPIPAGDG KVCVSSPPEP
DETHDPKLQH LAPEELHTDR ESPRPGPSML PSVPKKDAPR VMDKVTSDET RGAEGTERSA
KDIGLWKAMM PSLDTDTLDV LERRVVLIQH EFLHKKEANG HSRFMYSSPV ADDIIQPAAP
ADLESPTLAA SSYHGDVVGQ VSTDLIAQRS SDSEEAFETP ESTTPVKAPP APPPPPPEVI
PEPEVSTQPP PEEPGCGSET VPVPDGPRSD SVEGSPFRPP SHSFSAVFDE DKPIASSGTY
NLDFDNIELV DTFQTLEPRA SDAKNQEGKV NTRRKSTDSV PISKSTLSRS LSLQASDFDG
ASSSGNPEAV ALAPDAYSTG SSSASSTLKR TKKPRPPSLK KKQTTKKPTE TPPVKETQQE
PDEESLVPSG ENLASETKTE SAKTEGPSPA LLEETPLEPA VGPKAACPLD SESAEGVVPP
ASGGGRVQNS PPVGRKTLPL TTAPEAGEVT PSDSGGQEDS PAKGLSVRLE FDYSEDKSSW
DNQQENPPPT KKIGKKPVAK MPLRRPKMKK TPEKLDNTPA SPPRSPAEPN DIPIAKGTYT
FDIDKWDDPN FNPFSSTSKM QESPKLPQQS YNFDPDTCDE SVDPFKTSSK TPSSPSKSPA
SFEIPASAME ANGVDGDGLN KPAKKKKTPL KTDTFRVKKS PKRSPLSDPP SQDPTPAATP
ETPPVISAVV HATDEEKLAV TNQKWTCMTV DLEADKQDYP QPSDLSTFVN ETKFSSPTEE
LDYRNSYEIE YMEKIGSSLP QDDDAPKKQA LYLMFDTSQE SPVKSSPVRM SESPTPCSGS
SFEETEALVN TAAKNQHPVP RGLAPNQESH LQVPEKSSQK ELEAMGLGTP SEAIEIREAA
HPTDVSISKT ALYSRIGTTE VEKPAGLLFQ QPDLDSALQI ARAEIITKER EVSEWKDKYE
ESRREVMEMR KIVAEYEKTI AQMIEDEQRE KSVSHQTVQQ LVLEKEQALA DLNSVEKSLA
DLFRRYEKMK EVLEGFRKNE EVLKRCAQEY LSRVKKEEQR YQALKVHAEE KLDRANAEIA
QVRGKAQQEQ AAHQASLRKE QLRVDALERT LEQKNKEIEE LTKICDELIA KMGKS*

speed

1.40 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: 0.999999999999465 (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)

chr10:123996976G>AN/A show variant in all transcripts IGV

HGNC symbol

TACC2

Ensembl transcript ID

ENST00000515603

Genbank transcript ID

N/A

UniProt peptide

O95359

alteration type

single base exchange

alteration region

CDS

DNA changes

c.7828G>A
cDNA.8156G>A
g.248288G>A

AA changes

A2610T Score: 58 explain score(s)

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

2610

frameshift

known variant

Reference ID: rs2295879

database	homozygous (A/A)	heterozygous	allele carriers
1000G	194	960	1154
ExAC	5843	21081	26924

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.891	0
	-0.382	0.001
(flanking)	3.684	0.031

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	248282	wt: 0.8313 / mu: 0.8516 (marginal change - not scored)	wt: CAGCCTTGTACTCCCGCATCGGGACCGCTGAGGTGGAGAAA mu: CAGCCTTGTACTCCCGCATCGGGACCACTGAGGTGGAGAAA	atcg\|GGAC
Acc increased	248278	wt: 0.55 / mu: 0.61	wt: AAAACAGCCTTGTACTCCCGCATCGGGACCGCTGAGGTGGA mu: AAAACAGCCTTGTACTCCCGCATCGGGACCACTGAGGTGGA	ccgc\|ATCG
Donor marginally increased	248293	wt: 0.9307 / mu: 0.9811 (marginal change - not scored)	wt: GCTGAGGTGGAGAAA mu: ACTGAGGTGGAGAAA	TGAG\|gtgg
Donor increased	248288	wt: 0.40 / mu: 0.91	wt: GGACCGCTGAGGTGG mu: GGACCACTGAGGTGG	ACCG\|ctga
Donor gained	248290	0.44	mu: ACCACTGAGGTGGAG	CACT\|gagg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

2610

mutated

not conserved

2610

Ptroglodytes

not conserved

ENSPTRG00000003008

2635

ASLCGALDYLEPDL

Mmulatta

not conserved

ENSMMUG00000013033

2634

ASLCGALDYLEPDL

Fcatus

all identical

ENSFCAG00000003650

2548

Mmusculus

not conserved

ENSMUSG00000030852

2586

AHPAS

EPDL

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000062790

1085

Dmelanogaster

not conserved

FBgn0026620

1079

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000015587

683

protein features

start (aa)	end (aa)	feature	details
2675	2703	COILED	Potential.	might get lost (downstream of altered splice site)
2746	2947	COILED	Potential.	might get lost (downstream of altered splice site)
2884	2884	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
2896	2896	CONFLICT	R -> Q (in Ref. 3; AAO62629/AAO62630).	might get lost (downstream of altered splice site)
2909	2909	CONFLICT	S -> T (in Ref. 5; AAH39311).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

8481 / 8481

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

2827 / 2827

position of stopcodon in wt / mu cDNA

8809 / 8809

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

last intron/exon boundary

8744

theoretical NMD boundary in CDS

8365

length of CDS

8481

coding sequence (CDS) position

7828

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

8156

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

248288

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

123996976

original gDNA sequence snippet

TGTACTCCCGCATCGGGACCGCTGAGGTGGAGAAACCTGCA

altered gDNA sequence snippet

TGTACTCCCGCATCGGGACCACTGAGGTGGAGAAACCTGCA

original cDNA sequence snippet

TGTACTCCCGCATCGGGACCGCTGAGGTGGAGAAACCTGCA

altered cDNA sequence snippet

TGTACTCCCGCATCGGGACCACTGAGGTGGAGAAACCTGCA

wildtype AA sequence

MGNENSTSDN QRTLSAQTPR SAQPPGNSQN IKRKQQDTPG SPDHRDASSI GSVGLGGFCT
ASESSASLDP CLVSPEVTEP RKDPQGARGP EGSLLPSPPP SQEREHPSSS MPFAECPPEG
CLASPAAAPE DGPQTQSPRR EPAPNAPGDI AAAFPAERDS STPYQEIAAV PSAGRERQPK
EEGQKSSFSF SSGIDQSPGM SPVPLREPMK APLCGEGDQP GGFESQEKEA AGGFPPAESR
QGVASVQVTP EAPAAAQQGT ESSAVLEKSP LKPMAPIPQD PAPRASDRER GQGEAPPQYL
TDDLEFLRAC HLPRSNSGAA PEAEVNAASQ ESCQQPVGAY LPHAELPWGL PSPALVPEAG
GSGKEALDTI DVQGHPQTGM RGTKPNQVVC VAAGGQPEGG LPVSPEPSLL TPTEEAHPAS
SLASFPAAQI PIAVEEPGSS SRESVSKAGM PVSADAAKEV VDAGLVGLER QVSDLGSKGE
HPEGDPGEVP APSPQERGEH LNTEQSHEVQ PGVPPPPLPK EQSHEVQPGA PPPPLPKAPS
ESARGPPGPT DGAKVHEDST SPAVAKEGSR SPGDSPGGKE EAPEPPDGGD PGNLQGEDSQ
AFSSKRDPEV GKDELSKPSS DAESRDHPSS HSAQPPRKGG AGHTDGPHSQ TAEADASGLP
HKLGEEDPVL PPVPDGAGEP TVPEGAIWEG SGLQPKCPDT LQSREGLGRM ESFLTLESEK
SDFPPTPVAE VAPKAQEGES TLEIRKMGSC DGEGLLTSPD QPRGPACDAS RQEFHAGVPH
PPQGENLAAD LGLTALILDQ DQQGIPSCPG EGWIRGAASE WPLLSSEKHL QPSQAQPETS
IFDVLKEQAQ PPENGKETSP SHPGFKDQGA DSSQIHVPVE PQEDNNLPTH GGQEQALGSE
LQSQLPKGTL SDTPTSSPTD MVWESSLTEE SELSAPTRQK LPALGEKRPE GACGDGQSSR
VSPPAADVLK DFSLAGNFSR KETCCTGQGP NKSQQALADA LEEGSQHEEA CQRHPGASEA
ADGCSPLWGL SKREMASGNT GEAPPCQPDS VALLDAVPCL PALAPASPGV TPTQDAPETE
ACDETQEGRQ QPVPAPQQKM ECWATSDAES PKLLASFPSA GEQGGEAGAA ETGGSAGAGD
PGKQQAPEKP GEATLSCGLL QTEHCLTSGE EASTSALRES CQAEHPMASC QDALLPAREL
GGIPRSTMDF STHQAVPDPK ELLLSGPPEV AAPDTPYLHV DSAAQRGAED SGVKAVSSAD
PRAPGESPCP VGEPPLALEN AASLKLFAGS LAPLLQPGAA GGEIPAVQAS SGSPKARTTE
GPVDSMPCLD RMPLLAKGKQ ATGEEKAATA PGAGAKASGE GMAGDAAGET EGSMERMGEP
SQDPKQGTSG GVDTSSEQIA TLTGFPDFRE HIAKIFEKPV LGALATPGEK AGAGRSAVGK
DLTRPLGPEK LLDGPPGVDV TLLPAPPARL QVEKKQQLAG EAEISHLALQ DPASDKLLGP
AGLTWERNLP GAGVGKEMAG VPPTLREDER PEGPGAAWPG LEGQAYSQLE RSRQELASGL
PSPAATQELP VERAAAFQVA PHSHGEEAVA QDRIPSGKQH QETSACDSPH GEDGPGDFAH
TGVPGHVPRS TCAPSPQREV LTVPEANSEP WTLDTLGGER RPGVTAGILE MRNALGNQST
PAPPTGEVAD TPLEPGKVAG AAGEAEGDIT LSTAETQACA SGDLPEAGTT RTFSVVAGDL
VLPGSCQDPA CSDKAPGMEG TAALHGDSPA RPQQAKEQPG PERPIPAGDG KVCVSSPPEP
DETHDPKLQH LAPEELHTDR ESPRPGPSML PSVPKKDAPR VMDKVTSDET RGAEGTESSP
VADDIIQPAA PADLESPTLA ASSYHGDVVG QVSTDLIAQR SSDSEEAFET PESTTPVKAP
PAPPPPPPEV IPEPEVSTQP PPEEPGCGSE TVPVPDGPRS DSVEGSPFRP PSHSFSAVFD
EDKPIASSGT YNLDFDNIEL VDTFQTLEPR ASDAKNQEGK VNTRRKSTDS VPISKSTLSR
SLSLQASDFD GASSSGNPEA VALAPDAYST GSSSASSTLK RTKKPRPPSL KKKQTTKKPT
ETPPVKETQQ EPDEESLVPS GENLASETKT ESAKTEGPSP ALLEETPLEP AVGPKAACPL
DSESAEGVVP PASGGGRVQN SPPVGRKTLP LTTAPEAGEV TPSDSGGQED SPAKGLSVRL
EFDYSEDKSS WDNQQENPPP TKKIGKKPVA KMPLRRPKMK KTPEKLDNTP ASPPRSPAEP
NDIPIAKGTY TFDIDKWDDP NFNPFSSTSK MQESPKLPQQ SYNFDPDTCD ESVDPFKTSS
KTPSSPSKSP ASFEIPASAM EANGVDGDGL NKPAKKKKTP LKTDTFRVKK SPKRSPLSDP
PSQDPTPAAT PETPPVISAV VHATDEEKLA VTNQKWTCMT VDLEADKQDY PQPSDLSTFV
NETKFSSPTE ELDYRNSYEI EYMEKIGSSL PQDDDAPKKQ ALYLMFDTSQ ESPVKSSPVR
MSESPTPCSG SSFEETEALV NTAAKNQHPV PRGLAPNQES HLQVPEKSSQ KELEAMGLGT
PSEAIEIREA AHPTDVSISK TALYSRIGTA EVEKPAGLLF QQPDLDSALQ IARAEIITKE
REVSEWKDKY EESRREVMEM RKIVAEYEKT IAQMIEDEQR EKSVSHQTVQ QLVLEKEQAL
ADLNSVEKSL ADLFRRYEKM KEVLEGFRKN EEVLKRCAQE YLSRVKKEEQ RYQALKVHAE
EKLDRANAEI AQVRGKAQQE QAAHQASLRK EQLRVDALER TLEQKNKEIE ELTKICDELI
AKMGKS*

mutated AA sequence

MGNENSTSDN QRTLSAQTPR SAQPPGNSQN IKRKQQDTPG SPDHRDASSI GSVGLGGFCT
ASESSASLDP CLVSPEVTEP RKDPQGARGP EGSLLPSPPP SQEREHPSSS MPFAECPPEG
CLASPAAAPE DGPQTQSPRR EPAPNAPGDI AAAFPAERDS STPYQEIAAV PSAGRERQPK
EEGQKSSFSF SSGIDQSPGM SPVPLREPMK APLCGEGDQP GGFESQEKEA AGGFPPAESR
QGVASVQVTP EAPAAAQQGT ESSAVLEKSP LKPMAPIPQD PAPRASDRER GQGEAPPQYL
TDDLEFLRAC HLPRSNSGAA PEAEVNAASQ ESCQQPVGAY LPHAELPWGL PSPALVPEAG
GSGKEALDTI DVQGHPQTGM RGTKPNQVVC VAAGGQPEGG LPVSPEPSLL TPTEEAHPAS
SLASFPAAQI PIAVEEPGSS SRESVSKAGM PVSADAAKEV VDAGLVGLER QVSDLGSKGE
HPEGDPGEVP APSPQERGEH LNTEQSHEVQ PGVPPPPLPK EQSHEVQPGA PPPPLPKAPS
ESARGPPGPT DGAKVHEDST SPAVAKEGSR SPGDSPGGKE EAPEPPDGGD PGNLQGEDSQ
AFSSKRDPEV GKDELSKPSS DAESRDHPSS HSAQPPRKGG AGHTDGPHSQ TAEADASGLP
HKLGEEDPVL PPVPDGAGEP TVPEGAIWEG SGLQPKCPDT LQSREGLGRM ESFLTLESEK
SDFPPTPVAE VAPKAQEGES TLEIRKMGSC DGEGLLTSPD QPRGPACDAS RQEFHAGVPH
PPQGENLAAD LGLTALILDQ DQQGIPSCPG EGWIRGAASE WPLLSSEKHL QPSQAQPETS
IFDVLKEQAQ PPENGKETSP SHPGFKDQGA DSSQIHVPVE PQEDNNLPTH GGQEQALGSE
LQSQLPKGTL SDTPTSSPTD MVWESSLTEE SELSAPTRQK LPALGEKRPE GACGDGQSSR
VSPPAADVLK DFSLAGNFSR KETCCTGQGP NKSQQALADA LEEGSQHEEA CQRHPGASEA
ADGCSPLWGL SKREMASGNT GEAPPCQPDS VALLDAVPCL PALAPASPGV TPTQDAPETE
ACDETQEGRQ QPVPAPQQKM ECWATSDAES PKLLASFPSA GEQGGEAGAA ETGGSAGAGD
PGKQQAPEKP GEATLSCGLL QTEHCLTSGE EASTSALRES CQAEHPMASC QDALLPAREL
GGIPRSTMDF STHQAVPDPK ELLLSGPPEV AAPDTPYLHV DSAAQRGAED SGVKAVSSAD
PRAPGESPCP VGEPPLALEN AASLKLFAGS LAPLLQPGAA GGEIPAVQAS SGSPKARTTE
GPVDSMPCLD RMPLLAKGKQ ATGEEKAATA PGAGAKASGE GMAGDAAGET EGSMERMGEP
SQDPKQGTSG GVDTSSEQIA TLTGFPDFRE HIAKIFEKPV LGALATPGEK AGAGRSAVGK
DLTRPLGPEK LLDGPPGVDV TLLPAPPARL QVEKKQQLAG EAEISHLALQ DPASDKLLGP
AGLTWERNLP GAGVGKEMAG VPPTLREDER PEGPGAAWPG LEGQAYSQLE RSRQELASGL
PSPAATQELP VERAAAFQVA PHSHGEEAVA QDRIPSGKQH QETSACDSPH GEDGPGDFAH
TGVPGHVPRS TCAPSPQREV LTVPEANSEP WTLDTLGGER RPGVTAGILE MRNALGNQST
PAPPTGEVAD TPLEPGKVAG AAGEAEGDIT LSTAETQACA SGDLPEAGTT RTFSVVAGDL
VLPGSCQDPA CSDKAPGMEG TAALHGDSPA RPQQAKEQPG PERPIPAGDG KVCVSSPPEP
DETHDPKLQH LAPEELHTDR ESPRPGPSML PSVPKKDAPR VMDKVTSDET RGAEGTESSP
VADDIIQPAA PADLESPTLA ASSYHGDVVG QVSTDLIAQR SSDSEEAFET PESTTPVKAP
PAPPPPPPEV IPEPEVSTQP PPEEPGCGSE TVPVPDGPRS DSVEGSPFRP PSHSFSAVFD
EDKPIASSGT YNLDFDNIEL VDTFQTLEPR ASDAKNQEGK VNTRRKSTDS VPISKSTLSR
SLSLQASDFD GASSSGNPEA VALAPDAYST GSSSASSTLK RTKKPRPPSL KKKQTTKKPT
ETPPVKETQQ EPDEESLVPS GENLASETKT ESAKTEGPSP ALLEETPLEP AVGPKAACPL
DSESAEGVVP PASGGGRVQN SPPVGRKTLP LTTAPEAGEV TPSDSGGQED SPAKGLSVRL
EFDYSEDKSS WDNQQENPPP TKKIGKKPVA KMPLRRPKMK KTPEKLDNTP ASPPRSPAEP
NDIPIAKGTY TFDIDKWDDP NFNPFSSTSK MQESPKLPQQ SYNFDPDTCD ESVDPFKTSS
KTPSSPSKSP ASFEIPASAM EANGVDGDGL NKPAKKKKTP LKTDTFRVKK SPKRSPLSDP
PSQDPTPAAT PETPPVISAV VHATDEEKLA VTNQKWTCMT VDLEADKQDY PQPSDLSTFV
NETKFSSPTE ELDYRNSYEI EYMEKIGSSL PQDDDAPKKQ ALYLMFDTSQ ESPVKSSPVR
MSESPTPCSG SSFEETEALV NTAAKNQHPV PRGLAPNQES HLQVPEKSSQ KELEAMGLGT
PSEAIEIREA AHPTDVSISK TALYSRIGTT EVEKPAGLLF QQPDLDSALQ IARAEIITKE
REVSEWKDKY EESRREVMEM RKIVAEYEKT IAQMIEDEQR EKSVSHQTVQ QLVLEKEQAL
ADLNSVEKSL ADLFRRYEKM KEVLEGFRKN EEVLKRCAQE YLSRVKKEEQ RYQALKVHAE
EKLDRANAEI AQVRGKAQQE QAAHQASLRK EQLRVDALER TLEQKNKEIE ELTKICDELI
AKMGKS*

speed

1.48 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999465 (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)

chr10:123996976G>AN/A show variant in all transcripts IGV

HGNC symbol

TACC2

Ensembl transcript ID

ENST00000369001

Genbank transcript ID

N/A

UniProt peptide

O95359

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1075G>A
cDNA.2546G>A
g.248288G>A

AA changes

A359T Score: 58 explain score(s)

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

359

frameshift

known variant

Reference ID: rs2295879

database	homozygous (A/A)	heterozygous	allele carriers
1000G	194	960	1154
ExAC	5843	21081	26924

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.891	0
	-0.382	0.001
(flanking)	3.684	0.031

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	248282	wt: 0.8313 / mu: 0.8516 (marginal change - not scored)	wt: CAGCCTTGTACTCCCGCATCGGGACCGCTGAGGTGGAGAAA mu: CAGCCTTGTACTCCCGCATCGGGACCACTGAGGTGGAGAAA	atcg\|GGAC
Acc increased	248278	wt: 0.55 / mu: 0.61	wt: AAAACAGCCTTGTACTCCCGCATCGGGACCGCTGAGGTGGA mu: AAAACAGCCTTGTACTCCCGCATCGGGACCACTGAGGTGGA	ccgc\|ATCG
Donor marginally increased	248293	wt: 0.9307 / mu: 0.9811 (marginal change - not scored)	wt: GCTGAGGTGGAGAAA mu: ACTGAGGTGGAGAAA	TGAG\|gtgg
Donor increased	248288	wt: 0.40 / mu: 0.91	wt: GGACCGCTGAGGTGG mu: GGACCACTGAGGTGG	ACCG\|ctga
Donor gained	248290	0.44	mu: ACCACTGAGGTGGAG	CACT\|gagg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

359

mutated

not conserved

359

Ptroglodytes

not conserved

ENSPTRG00000003008

2638

Mmulatta

not conserved

ENSMMUG00000013033

2637

Fcatus

all identical

ENSFCAG00000003650

2559

Mmusculus

not conserved

ENSMUSG00000030852

2586

AHPAS

EPDL

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000062790

1054

Dmelanogaster

not conserved

FBgn0026620

1079

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000015587

743

protein features

start (aa)	end (aa)	feature	details
482	549	COMPBIAS	Pro-rich.	might get lost (downstream of altered splice site)
493	493	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
571	571	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
575	575	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
758	758	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
962	962	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1025	1025	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1267	1267	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1313	1313	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1426	1426	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1562	1562	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1946	1946	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
1949	1949	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
1956	2016	COMPBIAS	Pro-rich.	might get lost (downstream of altered splice site)
2072	2072	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2073	2073	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
2226	2226	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2246	2246	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
2256	2256	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2315	2403	DOMAIN	SPAZ.	might get lost (downstream of altered splice site)
2317	2317	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2321	2321	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2359	2359	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2389	2389	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2390	2390	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2392	2392	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2394	2394	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2403	2403	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2420	2423	COMPBIAS	Poly-Lys.	might get lost (downstream of altered splice site)
2512	2512	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2675	2703	COILED	Potential.	might get lost (downstream of altered splice site)
2746	2947	COILED	Potential.	might get lost (downstream of altered splice site)
2884	2884	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
2896	2896	CONFLICT	R -> Q (in Ref. 3; AAO62629/AAO62630).	might get lost (downstream of altered splice site)
2909	2909	CONFLICT	S -> T (in Ref. 5; AAH39311).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1728 / 1728

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

576 / 576

position of stopcodon in wt / mu cDNA

3199 / 3199

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

1472 / 1472

chromosome

strand

last intron/exon boundary

3134

theoretical NMD boundary in CDS

1612

length of CDS

1728

coding sequence (CDS) position

1075

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

2546

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

248288

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

123996976

original gDNA sequence snippet

TGTACTCCCGCATCGGGACCGCTGAGGTGGAGAAACCTGCA

altered gDNA sequence snippet

TGTACTCCCGCATCGGGACCACTGAGGTGGAGAAACCTGCA

original cDNA sequence snippet

TGTACTCCCGCATCGGGACCGCTGAGGTGGAGAAACCTGCA

altered cDNA sequence snippet

TGTACTCCCGCATCGGGACCACTGAGGTGGAGAAACCTGCA

wildtype AA sequence

MPLRRPKMKK TPEKLDNTPA SPPRSPAEPN DIPIAKGTYT FDIDKWDDPN FNPFSSTSKM
QESPKLPQQS YNFDPDTCDE SVDPFKTSSK TPSSPSKSPA SFEIPASAME ANGVDGDGLN
KPAKKKKTPL KTDTFRVKKS PKRSPLSDPP SQDPTPAATP ETPPVISAVV HATDEEKLAV
TNQKWTCMTV DLEADKQDYP QPSDLSTFVN ETKFSSPTEE LDYRNSYEIE YMEKIGSSLP
QDDDAPKKQA LYLMFDTSQE SPVKSSPVRM SESPTPCSGS SFEETEALVN TAAKNQHPVP
RGLAPNQESH LQVPEKSSQK ELEAMGLGTP SEAIEIREAA HPTDVSISKT ALYSRIGTAE
VEKPAGLLFQ QPDLDSALQI ARAEIITKER EVSEWKDKYE ESRREVMEMR KIVAEYEKTI
AQMIEDEQRE KSVSHQTVQQ LVLEKEQALA DLNSVEKSLA DLFRRYEKMK EVLEGFRKNE
EVLKRCAQEY LSRVKKEEQR YQALKVHAEE KLDRANAEIA QVRGKAQQEQ AAHQASLRKE
QLRVDALERT LEQKNKEIEE LTKICDELIA KMGKS*

mutated AA sequence

MPLRRPKMKK TPEKLDNTPA SPPRSPAEPN DIPIAKGTYT FDIDKWDDPN FNPFSSTSKM
QESPKLPQQS YNFDPDTCDE SVDPFKTSSK TPSSPSKSPA SFEIPASAME ANGVDGDGLN
KPAKKKKTPL KTDTFRVKKS PKRSPLSDPP SQDPTPAATP ETPPVISAVV HATDEEKLAV
TNQKWTCMTV DLEADKQDYP QPSDLSTFVN ETKFSSPTEE LDYRNSYEIE YMEKIGSSLP
QDDDAPKKQA LYLMFDTSQE SPVKSSPVRM SESPTPCSGS SFEETEALVN TAAKNQHPVP
RGLAPNQESH LQVPEKSSQK ELEAMGLGTP SEAIEIREAA HPTDVSISKT ALYSRIGTTE
VEKPAGLLFQ QPDLDSALQI ARAEIITKER EVSEWKDKYE ESRREVMEMR KIVAEYEKTI
AQMIEDEQRE KSVSHQTVQQ LVLEKEQALA DLNSVEKSLA DLFRRYEKMK EVLEGFRKNE
EVLKRCAQEY LSRVKKEEQR YQALKVHAEE KLDRANAEIA QVRGKAQQEQ AAHQASLRKE
QLRVDALERT LEQKNKEIEE LTKICDELIA KMGKS*

speed

0.47 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999465 (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)

chr10:123996976G>AN/A show variant in all transcripts IGV

HGNC symbol

TACC2

Ensembl transcript ID

ENST00000369000

Genbank transcript ID

N/A

UniProt peptide

O95359

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1063G>A
cDNA.2672G>A
g.248288G>A

AA changes

A355T Score: 58 explain score(s)

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

355

frameshift

known variant

Reference ID: rs2295879

database	homozygous (A/A)	heterozygous	allele carriers
1000G	194	960	1154
ExAC	5843	21081	26924

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.891	0
	-0.382	0.001
(flanking)	3.684	0.031

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	248282	wt: 0.8313 / mu: 0.8516 (marginal change - not scored)	wt: CAGCCTTGTACTCCCGCATCGGGACCGCTGAGGTGGAGAAA mu: CAGCCTTGTACTCCCGCATCGGGACCACTGAGGTGGAGAAA	atcg\|GGAC
Acc increased	248278	wt: 0.55 / mu: 0.61	wt: AAAACAGCCTTGTACTCCCGCATCGGGACCGCTGAGGTGGA mu: AAAACAGCCTTGTACTCCCGCATCGGGACCACTGAGGTGGA	ccgc\|ATCG
Donor marginally increased	248293	wt: 0.9307 / mu: 0.9811 (marginal change - not scored)	wt: GCTGAGGTGGAGAAA mu: ACTGAGGTGGAGAAA	TGAG\|gtgg
Donor increased	248288	wt: 0.40 / mu: 0.91	wt: GGACCGCTGAGGTGG mu: GGACCACTGAGGTGG	ACCG\|ctga
Donor gained	248290	0.44	mu: ACCACTGAGGTGGAG	CACT\|gagg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

355

mutated

not conserved

355

Ptroglodytes

not conserved

ENSPTRG00000003008

2638

Mmulatta

not conserved

ENSMMUG00000013033

2637

Fcatus

all identical

ENSFCAG00000003650

2559

Mmusculus

not conserved

ENSMUSG00000030852

2586

AHPAS

EPDL

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000062790

1054

Dmelanogaster

not conserved

FBgn0026620

1079

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000015587

743

protein features

start (aa)	end (aa)	feature	details
482	549	COMPBIAS	Pro-rich.	might get lost (downstream of altered splice site)
493	493	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
571	571	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
575	575	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
758	758	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
962	962	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1025	1025	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1267	1267	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1313	1313	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1426	1426	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1562	1562	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1946	1946	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
1949	1949	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
1956	2016	COMPBIAS	Pro-rich.	might get lost (downstream of altered splice site)
2072	2072	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2073	2073	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
2226	2226	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2246	2246	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
2256	2256	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2315	2403	DOMAIN	SPAZ.	might get lost (downstream of altered splice site)
2317	2317	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2321	2321	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2359	2359	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2389	2389	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2390	2390	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2392	2392	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2394	2394	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2403	2403	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2420	2423	COMPBIAS	Poly-Lys.	might get lost (downstream of altered splice site)
2512	2512	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2675	2703	COILED	Potential.	might get lost (downstream of altered splice site)
2746	2947	COILED	Potential.	might get lost (downstream of altered splice site)
2884	2884	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
2896	2896	CONFLICT	R -> Q (in Ref. 3; AAO62629/AAO62630).	might get lost (downstream of altered splice site)
2909	2909	CONFLICT	S -> T (in Ref. 5; AAH39311).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1716 / 1716

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

572 / 572

position of stopcodon in wt / mu cDNA

3325 / 3325

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

1610 / 1610

chromosome

strand

last intron/exon boundary

3260

theoretical NMD boundary in CDS

1600

length of CDS

1716

coding sequence (CDS) position

1063

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

2672

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

248288

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

123996976

original gDNA sequence snippet

TGTACTCCCGCATCGGGACCGCTGAGGTGGAGAAACCTGCA

altered gDNA sequence snippet

TGTACTCCCGCATCGGGACCACTGAGGTGGAGAAACCTGCA

original cDNA sequence snippet

TGTACTCCCGCATCGGGACCGCTGAGGTGGAGAAACCTGCA

altered cDNA sequence snippet

TGTACTCCCGCATCGGGACCACTGAGGTGGAGAAACCTGCA

wildtype AA sequence

MPLRRPKMKK TPEKLDNTPA SPPRSPAEPN DIPIAKGTYT FDIDKWDDPN FNPFSSTSKM
QESPKLPQQS YNFDPDTCDE SVDPFKTSSK TPSSPSKSPA SFEIPASAME ANGVDGDGLN
KPAKKKKTPL KTVKKSPKRS PLSDPPSQDP TPAATPETPP VISAVVHATD EEKLAVTNQK
WTCMTVDLEA DKQDYPQPSD LSTFVNETKF SSPTEELDYR NSYEIEYMEK IGSSLPQDDD
APKKQALYLM FDTSQESPVK SSPVRMSESP TPCSGSSFEE TEALVNTAAK NQHPVPRGLA
PNQESHLQVP EKSSQKELEA MGLGTPSEAI EIREAAHPTD VSISKTALYS RIGTAEVEKP
AGLLFQQPDL DSALQIARAE IITKEREVSE WKDKYEESRR EVMEMRKIVA EYEKTIAQMI
EDEQREKSVS HQTVQQLVLE KEQALADLNS VEKSLADLFR RYEKMKEVLE GFRKNEEVLK
RCAQEYLSRV KKEEQRYQAL KVHAEEKLDR ANAEIAQVRG KAQQEQAAHQ ASLRKEQLRV
DALERTLEQK NKEIEELTKI CDELIAKMGK S*

mutated AA sequence

MPLRRPKMKK TPEKLDNTPA SPPRSPAEPN DIPIAKGTYT FDIDKWDDPN FNPFSSTSKM
QESPKLPQQS YNFDPDTCDE SVDPFKTSSK TPSSPSKSPA SFEIPASAME ANGVDGDGLN
KPAKKKKTPL KTVKKSPKRS PLSDPPSQDP TPAATPETPP VISAVVHATD EEKLAVTNQK
WTCMTVDLEA DKQDYPQPSD LSTFVNETKF SSPTEELDYR NSYEIEYMEK IGSSLPQDDD
APKKQALYLM FDTSQESPVK SSPVRMSESP TPCSGSSFEE TEALVNTAAK NQHPVPRGLA
PNQESHLQVP EKSSQKELEA MGLGTPSEAI EIREAAHPTD VSISKTALYS RIGTTEVEKP
AGLLFQQPDL DSALQIARAE IITKEREVSE WKDKYEESRR EVMEMRKIVA EYEKTIAQMI
EDEQREKSVS HQTVQQLVLE KEQALADLNS VEKSLADLFR RYEKMKEVLE GFRKNEEVLK
RCAQEYLSRV KKEEQRYQAL KVHAEEKLDR ANAEIAQVRG KAQQEQAAHQ ASLRKEQLRV
DALERTLEQK NKEIEELTKI CDELIAKMGK S*

speed

0.50 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999465 (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)

chr10:123996976G>AN/A show variant in all transcripts IGV

HGNC symbol

TACC2

Ensembl transcript ID

ENST00000453444

Genbank transcript ID

N/A

UniProt peptide

O95359

alteration type

single base exchange

alteration region

CDS

DNA changes

c.7975G>A
cDNA.8021G>A
g.248288G>A

AA changes

A2659T Score: 58 explain score(s)

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

2659

frameshift

known variant

Reference ID: rs2295879

database	homozygous (A/A)	heterozygous	allele carriers
1000G	194	960	1154
ExAC	5843	21081	26924

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.891	0
	-0.382	0.001
(flanking)	3.684	0.031

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	248282	wt: 0.8313 / mu: 0.8516 (marginal change - not scored)	wt: CAGCCTTGTACTCCCGCATCGGGACCGCTGAGGTGGAGAAA mu: CAGCCTTGTACTCCCGCATCGGGACCACTGAGGTGGAGAAA	atcg\|GGAC
Acc increased	248278	wt: 0.55 / mu: 0.61	wt: AAAACAGCCTTGTACTCCCGCATCGGGACCGCTGAGGTGGA mu: AAAACAGCCTTGTACTCCCGCATCGGGACCACTGAGGTGGA	ccgc\|ATCG
Donor marginally increased	248293	wt: 0.9307 / mu: 0.9811 (marginal change - not scored)	wt: GCTGAGGTGGAGAAA mu: ACTGAGGTGGAGAAA	TGAG\|gtgg
Donor increased	248288	wt: 0.40 / mu: 0.91	wt: GGACCGCTGAGGTGG mu: GGACCACTGAGGTGG	ACCG\|ctga
Donor gained	248290	0.44	mu: ACCACTGAGGTGGAG	CACT\|gagg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

2659

mutated

not conserved

2659

Ptroglodytes

not conserved

ENSPTRG00000003008

2635

ASLCGALDYLEPDL

Mmulatta

not conserved

ENSMMUG00000013033

2634

ASLCGALDYLEPDL

Fcatus

all identical

ENSFCAG00000003650

2548

Mmusculus

not conserved

ENSMUSG00000030852

2586

AHPAS

EPDL

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000062790

1055

Dmelanogaster

not conserved

FBgn0026620

1079

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000015587

683

protein features

start (aa)	end (aa)	feature	details
2675	2703	COILED	Potential.	might get lost (downstream of altered splice site)
2746	2947	COILED	Potential.	might get lost (downstream of altered splice site)
2884	2884	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
2896	2896	CONFLICT	R -> Q (in Ref. 3; AAO62629/AAO62630).	might get lost (downstream of altered splice site)
2909	2909	CONFLICT	S -> T (in Ref. 5; AAH39311).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

8628 / 8628

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

2876 / 2876

position of stopcodon in wt / mu cDNA

8674 / 8674

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

47 / 47

chromosome

strand

last intron/exon boundary

8609

theoretical NMD boundary in CDS

8512

length of CDS

8628

coding sequence (CDS) position

7975

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

8021

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

248288

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

123996976

original gDNA sequence snippet

TGTACTCCCGCATCGGGACCGCTGAGGTGGAGAAACCTGCA

altered gDNA sequence snippet

TGTACTCCCGCATCGGGACCACTGAGGTGGAGAAACCTGCA

original cDNA sequence snippet

TGTACTCCCGCATCGGGACCGCTGAGGTGGAGAAACCTGCA

altered cDNA sequence snippet

TGTACTCCCGCATCGGGACCACTGAGGTGGAGAAACCTGCA

wildtype AA sequence

mutated AA sequence

MGNENSTSDN QRTLSAQTPR SAQPPGNSQN IKRKQQDTPG SPDHRDASSI GSVGLGGFCT
ASESSASLDP CLVSPEVTEP RKDPQGARGP EGSLLPSPPP SQEREHPSSS MPFAECPPEG
CLASPAAAPE DGPQTQSPRR EPAPNAPGDI AAAFPAERDS STPYQEIAAV PSAGRERQPK
EEGQKSSFSF SSGIDQSPGM SPVPLREPMK APLCGEGDQP GGFESQEKEA AGGFPPAESR
QGVASVQVTP EAPAAAQQGT ESSAVLEKSP LKPMAPIPQD PAPRASDRER GQGEAPPQYL
TDDLEFLRAC HLPRSNSGAA PEAEVNAASQ ESCQQPVGAY LPHAELPWGL PSPALVPEAG
GSGKEALDTI DVQGHPQTGM RGTKPNQVVC VAAGGQPEGG LPVSPEPSLL TPTEEAHPAS
SLASFPAAQI PIAVEEPGSS SRESVSKAGM PVSADAAKEV VDAGLVGLER QVSDLGSKGE
HPEGDPGEVP APSPQERGEH LNTEQSHEVQ PGVPPPPLPK EQSHEVQPGA PPPPLPKAPS
ESARGPPGPT DGAKVHEDST SPAVAKEGSR SPGDSPGGKE EAPEPPDGGD PGNLQGEDSQ
AFSSKRDPEV GKDELSKPSS DAESRDHPSS HSAQPPRKGG AGHTDGPHSQ TAEADASGLP
HKLGEEDPVL PPVPDGAGEP TVPEGAIWEG SGLQPKCPDT LQSREGLGRM ESFLTLESEK
SDFPPTPVAE VAPKAQEGES TLEIRKMGSC DGEGLLTSPD QPRGPACDAS RQEFHAGVPH
PPQGENLAAD LGLTALILDQ DQQGIPSCPG EGWIRGAASE WPLLSSEKHL QPSQAQPETS
IFDVLKEQAQ PPENGKETSP SHPGFKDQGA DSSQIHVPVE PQEDNNLPTH GGQEQALGSE
LQSQLPKGTL SDTPTSSPTD MVWESSLTEE SELSAPTRQK LPALGEKRPE GACGDGQSSR
VSPPAADVLK DFSLAGNFSR KETCCTGQGP NKSQQALADA LEEGSQHEEA CQRHPGASEA
ADGCSPLWGL SKREMASGNT GEAPPCQPDS VALLDAVPCL PALAPASPGV TPTQDAPETE
ACDETQEGRQ QPVPAPQQKM ECWATSDAES PKLLASFPSA GEQGGEAGAA ETGGSAGAGD
PGKQQAPEKP GEATLSCGLL QTEHCLTSGE EASTSALRES CQAEHPMASC QDALLPAREL
GGIPRSTMDF STHQAVPDPK ELLLSGPPEV AAPDTPYLHV DSAAQRGAED SGVKAVSSAD
PRAPGESPCP VGEPPLALEN AASLKLFAGS LAPLLQPGAA GGEIPAVQAS SGSPKARTTE
GPVDSMPCLD RMPLLAKGKQ ATGEEKAATA PGAGAKASGE GMAGDAAGET EGSMERMGEP
SQDPKQGTSG GVDTSSEQIA TLTGFPDFRE HIAKIFEKPV LGALATPGEK AGAGRSAVGK
DLTRPLGPEK LLDGPPGVDV TLLPAPPARL QVEKKQQLAG EAEISHLALQ DPASDKLLGP
AGLTWERNLP GAGVGKEMAG VPPTLREDER PEGPGAAWPG LEGQAYSQLE RSRQELASGL
PSPAATQELP VERAAAFQVA PHSHGEEAVA QDRIPSGKQH QETSACDSPH GEDGPGDFAH
TGVPGHVPRS TCAPSPQREV LTVPEANSEP WTLDTLGGER RPGVTAGILE MRNALGNQST
PAPPTGEVAD TPLEPGKVAG AAGEAEGDIT LSTAETQACA SGDLPEAGTT RTFSVVAGDL
VLPGSCQDPA CSDKAPGMEG TAALHGDSPA RPQQAKEQPG PERPIPAGDG KVCVSSPPEP
DETHDPKLQH LAPEELHTDR ESPRPGPSML PSVPKKDAPR VMDKVTSDET RGAEGTERSA
KDIGLWKAMM PSLDTDTLDV LERRVVLIQH EFLHKKEANG HSRFMYSSPV ADDIIQPAAP
ADLESPTLAA SSYHGDVVGQ VSTDLIAQRS SDSEEAFETP ESTTPVKAPP APPPPPPEVI
PEPEVSTQPP PEEPGCGSET VPVPDGPRSD SVEGSPFRPP SHSFSAVFDE DKPIASSGTY
NLDFDNIELV DTFQTLEPRA SDAKNQEGKV NTRRKSTDSV PISKSTLSRS LSLQASDFDG
ASSSGNPEAV ALAPDAYSTG SSSASSTLKR TKKPRPPSLK KKQTTKKPTE TPPVKETQQE
PDEESLVPSG ENLASETKTE SAKTEGPSPA LLEETPLEPA VGPKAACPLD SESAEGVVPP
ASGGGRVQNS PPVGRKTLPL TTAPEAGEVT PSDSGGQEDS PAKGLSVRLE FDYSEDKSSW
DNQQENPPPT KKIGKKPVAK MPLRRPKMKK TPEKLDNTPA SPPRSPAEPN DIPIAKGTYT
FDIDKWDDPN FNPFSSTSKM QESPKLPQQS YNFDPDTCDE SVDPFKTSSK TPSSPSKSPA
SFEIPASAME ANGVDGDGLN KPAKKKKTPL KTDTFRVKKS PKRSPLSDPP SQDPTPAATP
ETPPVISAVV HATDEEKLAV TNQKWTCMTV DLEADKQDYP QPSDLSTFVN ETKFSSPTEE
LDYRNSYEIE YMEKIGSSLP QDDDAPKKQA LYLMFDTSQE SPVKSSPVRM SESPTPCSGS
SFEETEALVN TAAKNQHPVP RGLAPNQESH LQVPEKSSQK ELEAMGLGTP SEAIEIREAA
HPTDVSISKT ALYSRIGTTE VEKPAGLLFQ QPDLDSALQI ARAEIITKER EVSEWKDKYE
ESRREVMEMR KIVAEYEKTI AQMIEDEQRE KSVSHQTVQQ LVLEKEQALA DLNSVEKSLA
DLFRRYEKMK EVLEGFRKNE EVLKRCAQEY LSRVKKEEQR YQALKVHAEE KLDRANAEIA
QVRGKAQQEQ AAHQASLRKE QLRVDALERT LEQKNKEIEE LTKICDELIA KMGKS*

speed

0.49 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999764792 (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)

chr10:123996976G>AN/A show variant in all transcripts IGV

HGNC symbol

TACC2

Ensembl transcript ID

ENST00000369005

Genbank transcript ID

NM_206862

UniProt peptide

O95359

alteration type

single base exchange

alteration region

CDS

DNA changes

c.8194G>A
cDNA.8534G>A
g.248288G>A

AA changes

A2732T Score: 58 explain score(s)

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

2732

frameshift

known variant

Reference ID: rs2295879

database	homozygous (A/A)	heterozygous	allele carriers
1000G	194	960	1154
ExAC	5843	21081	26924

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.891	0
	-0.382	0.001
(flanking)	3.684	0.031

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	248282	wt: 0.8313 / mu: 0.8516 (marginal change - not scored)	wt: CAGCCTTGTACTCCCGCATCGGGACCGCTGAGGTGGAGAAA mu: CAGCCTTGTACTCCCGCATCGGGACCACTGAGGTGGAGAAA	atcg\|GGAC
Acc increased	248278	wt: 0.55 / mu: 0.61	wt: AAAACAGCCTTGTACTCCCGCATCGGGACCGCTGAGGTGGA mu: AAAACAGCCTTGTACTCCCGCATCGGGACCACTGAGGTGGA	ccgc\|ATCG
Donor marginally increased	248293	wt: 0.9307 / mu: 0.9811 (marginal change - not scored)	wt: GCTGAGGTGGAGAAA mu: ACTGAGGTGGAGAAA	TGAG\|gtgg
Donor increased	248288	wt: 0.40 / mu: 0.91	wt: GGACCGCTGAGGTGG mu: GGACCACTGAGGTGG	ACCG\|ctga
Donor gained	248290	0.44	mu: ACCACTGAGGTGGAG	CACT\|gagg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

2732

mutated

not conserved

2732

Ptroglodytes

all identical

ENSPTRG00000003008

2715

Mmulatta

all identical

ENSMMUG00000013033

2714

Fcatus

all identical

ENSFCAG00000003650

2624

Mmusculus

not conserved

ENSMUSG00000030852

2663

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000062790

1097

Dmelanogaster

no alignment

FBgn0026620

n/a

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000015587

762

protein features

start (aa)	end (aa)	feature	details
2746	2947	COILED	Potential.	might get lost (downstream of altered splice site)
2884	2884	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
2896	2896	CONFLICT	R -> Q (in Ref. 3; AAO62629/AAO62630).	might get lost (downstream of altered splice site)
2909	2909	CONFLICT	S -> T (in Ref. 5; AAH39311).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

8847 / 8847

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

2949 / 2949

position of stopcodon in wt / mu cDNA

9187 / 9187

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

341 / 341

chromosome

strand

last intron/exon boundary

9122

theoretical NMD boundary in CDS

8731

length of CDS

8847

coding sequence (CDS) position

8194

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

8534

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

248288

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

123996976

original gDNA sequence snippet

TGTACTCCCGCATCGGGACCGCTGAGGTGGAGAAACCTGCA

altered gDNA sequence snippet

TGTACTCCCGCATCGGGACCACTGAGGTGGAGAAACCTGCA

original cDNA sequence snippet

TGTACTCCCGCATCGGGACCGCTGAGGTGGAGAAACCTGCA

altered cDNA sequence snippet

TGTACTCCCGCATCGGGACCACTGAGGTGGAGAAACCTGCA

wildtype AA sequence

MGNENSTSDN QRTLSAQTPR SAQPPGNSQN IKRKQQDTPG SPDHRDASSI GSVGLGGFCT
ASESSASLDP CLVSPEVTEP RKDPQGARGP EGSLLPSPPP SQEREHPSSS MPFAECPPEG
CLASPAAAPE DGPQTQSPRR EPAPNAPGDI AAAFPAERDS STPYQEIAAV PSAGRERQPK
EEGQKSSFSF SSGIDQSPGM SPVPLREPMK APLCGEGDQP GGFESQEKEA AGGFPPAESR
QGVASVQVTP EAPAAAQQGT ESSAVLEKSP LKPMAPIPQD PAPRASDRER GQGEAPPQYL
TDDLEFLRAC HLPRSNSGAA PEAEVNAASQ ESCQQPVGAY LPHAELPWGL PSPALVPEAG
GSGKEALDTI DVQGHPQTGM RGTKPNQVVC VAAGGQPEGG LPVSPEPSLL TPTEEAHPAS
SLASFPAAQI PIAVEEPGSS SRESVSKAGM PVSADAAKEV VDAGLVGLER QVSDLGSKGE
HPEGDPGEVP APSPQERGEH LNTEQSHEVQ PGVPPPPLPK EQSHEVQPGA PPPPLPKAPS
ESARGPPGPT DGAKVHEDST SPAVAKEGSR SPGDSPGGKE EAPEPPDGGD PGNLQGEDSQ
AFSSKRDPEV GKDELSKPSS DAESRDHPSS HSAQPPRKGG AGHTDGPHSQ TAEADASGLP
HKLGEEDPVL PPVPDGAGEP TVPEGAIWEG SGLQPKCPDT LQSREGLGRM ESFLTLESEK
SDFPPTPVAE VAPKAQEGES TLEIRKMGSC DGEGLLTSPD QPRGPACDAS RQEFHAGVPH
PPQGENLAAD LGLTALILDQ DQQGIPSCPG EGWIRGAASE WPLLSSEKHL QPSQAQPETS
IFDVLKEQAQ PPENGKETSP SHPGFKDQGA DSSQIHVPVE PQEDNNLPTH GGQEQALGSE
LQSQLPKGTL SDTPTSSPTD MVWESSLTEE SELSAPTRQK LPALGEKRPE GACGDGQSSR
VSPPAADVLK DFSLAGNFSR KETCCTGQGP NKSQQALADA LEEGSQHEEA CQRHPGASEA
ADGCSPLWGL SKREMASGNT GEAPPCQPDS VALLDAVPCL PALAPASPGV TPTQDAPETE
ACDETQEGRQ QPVPAPQQKM ECWATSDAES PKLLASFPSA GEQGGEAGAA ETGGSAGAGD
PGKQQAPEKP GEATLSCGLL QTEHCLTSGE EASTSALRES CQAEHPMASC QDALLPAREL
GGIPRSTMDF STHQAVPDPK ELLLSGPPEV AAPDTPYLHV DSAAQRGAED SGVKAVSSAD
PRAPGESPCP VGEPPLALEN AASLKLFAGS LAPLLQPGAA GGEIPAVQAS SGSPKARTTE
GPVDSMPCLD RMPLLAKGKQ ATGEEKAATA PGAGAKASGE GMAGDAAGET EGSMERMGEP
SQDPKQGTSG GVDTSSEQIA TLTGFPDFRE HIAKIFEKPV LGALATPGEK AGAGRSAVGK
DLTRPLGPEK LLDGPPGVDV TLLPAPPARL QVEKKQQLAG EAEISHLALQ DPASDKLLGP
AGLTWERNLP GAGVGKEMAG VPPTLREDER PEGPGAAWPG LEGQAYSQLE RSRQELASGL
PSPAATQELP VERAAAFQVA PHSHGEEAVA QDRIPSGKQH QETSACDSPH GEDGPGDFAH
TGVPGHVPRS TCAPSPQREV LTVPEANSEP WTLDTLGGER RPGVTAGILE MRNALGNQST
PAPPTGEVAD TPLEPGKVAG AAGEAEGDIT LSTAETQACA SGDLPEAGTT RTFSVVAGDL
VLPGSCQDPA CSDKAPGMEG TAALHGDSPA RPQQAKEQPG PERPIPAGDG KVCVSSPPEP
DETHDPKLQH LAPEELHTDR ESPRPGPSML PSVPKKDAPR VMDKVTSDET RGAEGTESSP
VADDIIQPAA PADLESPTLA ASSYHGDVVG QVSTDLIAQS ISPAAAHAGL PPSAAEHIVS
PSAPAGDRVE ASTPSCPDPA KDLSRSSDSE EAFETPESTT PVKAPPAPPP PPPEVIPEPE
VSTQPPPEEP GCGSETVPVP DGPRSDSVEG SPFRPPSHSF SAVFDEDKPI ASSGTYNLDF
DNIELVDTFQ TLEPRASDAK NQEGKVNTRR KSTDSVPISK STLSRSLSLQ ASDFDGASSS
GNPEAVALAP DAYSTGSSSA SSTLKRTKKP RPPSLKKKQT TKKPTETPPV KETQQEPDEE
SLVPSGENLA SETKTESAKT EGPSPALLEE TPLEPAVGPK AACPLDSESA EGVVPPASGG
GRVQNSPPVG RKTLPLTTAP EAGEVTPSDS GGQEDSPAKG LSVRLEFDYS EDKSSWDNQQ
ENPPPTKKIG KKPVAKMPLR RPKMKKTPEK LDNTPASPPR SPAEPNDIPI AKGTYTFDID
KWDDPNFNPF SSTSKMQESP KLPQQSYNFD PDTCDESVDP FKTSSKTPSS PSKSPASFEI
PASAMEANGV DGDGLNKPAK KKKTPLKTDT FRVKKSPKRS PLSDPPSQDP TPAATPETPP
VISAVVHATD EEKLAVTNQK WTCMTVDLEA DKQDYPQPSD LSTFVNETKF SSPTEELDYR
NSYEIEYMEK IGSSLPQDDD APKKQALYLM FDTSQESPVK SSPVRMSESP TPCSGSSFEE
TEALVNTAAK NQHPVPRGLA PNQESHLQVP EKSSQKELEA MGLGTPSEAI EITAPEGSFA
SADALLSRLA HPVSLCGALD YLEPDLAEKN PPLFAQKLQE ELEFAIMRIE ALKLARQIAL
ASRSHQDAKR EAAHPTDVSI SKTALYSRIG TAEVEKPAGL LFQQPDLDSA LQIARAEIIT
KEREVSEWKD KYEESRREVM EMRKIVAEYE KTIAQMIEDE QREKSVSHQT VQQLVLEKEQ
ALADLNSVEK SLADLFRRYE KMKEVLEGFR KNEEVLKRCA QEYLSRVKKE EQRYQALKVH
AEEKLDRANA EIAQVRGKAQ QEQAAHQASL RKEQLRVDAL ERTLEQKNKE IEELTKICDE
LIAKMGKS*

mutated AA sequence

MGNENSTSDN QRTLSAQTPR SAQPPGNSQN IKRKQQDTPG SPDHRDASSI GSVGLGGFCT
ASESSASLDP CLVSPEVTEP RKDPQGARGP EGSLLPSPPP SQEREHPSSS MPFAECPPEG
CLASPAAAPE DGPQTQSPRR EPAPNAPGDI AAAFPAERDS STPYQEIAAV PSAGRERQPK
EEGQKSSFSF SSGIDQSPGM SPVPLREPMK APLCGEGDQP GGFESQEKEA AGGFPPAESR
QGVASVQVTP EAPAAAQQGT ESSAVLEKSP LKPMAPIPQD PAPRASDRER GQGEAPPQYL
TDDLEFLRAC HLPRSNSGAA PEAEVNAASQ ESCQQPVGAY LPHAELPWGL PSPALVPEAG
GSGKEALDTI DVQGHPQTGM RGTKPNQVVC VAAGGQPEGG LPVSPEPSLL TPTEEAHPAS
SLASFPAAQI PIAVEEPGSS SRESVSKAGM PVSADAAKEV VDAGLVGLER QVSDLGSKGE
HPEGDPGEVP APSPQERGEH LNTEQSHEVQ PGVPPPPLPK EQSHEVQPGA PPPPLPKAPS
ESARGPPGPT DGAKVHEDST SPAVAKEGSR SPGDSPGGKE EAPEPPDGGD PGNLQGEDSQ
AFSSKRDPEV GKDELSKPSS DAESRDHPSS HSAQPPRKGG AGHTDGPHSQ TAEADASGLP
HKLGEEDPVL PPVPDGAGEP TVPEGAIWEG SGLQPKCPDT LQSREGLGRM ESFLTLESEK
SDFPPTPVAE VAPKAQEGES TLEIRKMGSC DGEGLLTSPD QPRGPACDAS RQEFHAGVPH
PPQGENLAAD LGLTALILDQ DQQGIPSCPG EGWIRGAASE WPLLSSEKHL QPSQAQPETS
IFDVLKEQAQ PPENGKETSP SHPGFKDQGA DSSQIHVPVE PQEDNNLPTH GGQEQALGSE
LQSQLPKGTL SDTPTSSPTD MVWESSLTEE SELSAPTRQK LPALGEKRPE GACGDGQSSR
VSPPAADVLK DFSLAGNFSR KETCCTGQGP NKSQQALADA LEEGSQHEEA CQRHPGASEA
ADGCSPLWGL SKREMASGNT GEAPPCQPDS VALLDAVPCL PALAPASPGV TPTQDAPETE
ACDETQEGRQ QPVPAPQQKM ECWATSDAES PKLLASFPSA GEQGGEAGAA ETGGSAGAGD
PGKQQAPEKP GEATLSCGLL QTEHCLTSGE EASTSALRES CQAEHPMASC QDALLPAREL
GGIPRSTMDF STHQAVPDPK ELLLSGPPEV AAPDTPYLHV DSAAQRGAED SGVKAVSSAD
PRAPGESPCP VGEPPLALEN AASLKLFAGS LAPLLQPGAA GGEIPAVQAS SGSPKARTTE
GPVDSMPCLD RMPLLAKGKQ ATGEEKAATA PGAGAKASGE GMAGDAAGET EGSMERMGEP
SQDPKQGTSG GVDTSSEQIA TLTGFPDFRE HIAKIFEKPV LGALATPGEK AGAGRSAVGK
DLTRPLGPEK LLDGPPGVDV TLLPAPPARL QVEKKQQLAG EAEISHLALQ DPASDKLLGP
AGLTWERNLP GAGVGKEMAG VPPTLREDER PEGPGAAWPG LEGQAYSQLE RSRQELASGL
PSPAATQELP VERAAAFQVA PHSHGEEAVA QDRIPSGKQH QETSACDSPH GEDGPGDFAH
TGVPGHVPRS TCAPSPQREV LTVPEANSEP WTLDTLGGER RPGVTAGILE MRNALGNQST
PAPPTGEVAD TPLEPGKVAG AAGEAEGDIT LSTAETQACA SGDLPEAGTT RTFSVVAGDL
VLPGSCQDPA CSDKAPGMEG TAALHGDSPA RPQQAKEQPG PERPIPAGDG KVCVSSPPEP
DETHDPKLQH LAPEELHTDR ESPRPGPSML PSVPKKDAPR VMDKVTSDET RGAEGTESSP
VADDIIQPAA PADLESPTLA ASSYHGDVVG QVSTDLIAQS ISPAAAHAGL PPSAAEHIVS
PSAPAGDRVE ASTPSCPDPA KDLSRSSDSE EAFETPESTT PVKAPPAPPP PPPEVIPEPE
VSTQPPPEEP GCGSETVPVP DGPRSDSVEG SPFRPPSHSF SAVFDEDKPI ASSGTYNLDF
DNIELVDTFQ TLEPRASDAK NQEGKVNTRR KSTDSVPISK STLSRSLSLQ ASDFDGASSS
GNPEAVALAP DAYSTGSSSA SSTLKRTKKP RPPSLKKKQT TKKPTETPPV KETQQEPDEE
SLVPSGENLA SETKTESAKT EGPSPALLEE TPLEPAVGPK AACPLDSESA EGVVPPASGG
GRVQNSPPVG RKTLPLTTAP EAGEVTPSDS GGQEDSPAKG LSVRLEFDYS EDKSSWDNQQ
ENPPPTKKIG KKPVAKMPLR RPKMKKTPEK LDNTPASPPR SPAEPNDIPI AKGTYTFDID
KWDDPNFNPF SSTSKMQESP KLPQQSYNFD PDTCDESVDP FKTSSKTPSS PSKSPASFEI
PASAMEANGV DGDGLNKPAK KKKTPLKTDT FRVKKSPKRS PLSDPPSQDP TPAATPETPP
VISAVVHATD EEKLAVTNQK WTCMTVDLEA DKQDYPQPSD LSTFVNETKF SSPTEELDYR
NSYEIEYMEK IGSSLPQDDD APKKQALYLM FDTSQESPVK SSPVRMSESP TPCSGSSFEE
TEALVNTAAK NQHPVPRGLA PNQESHLQVP EKSSQKELEA MGLGTPSEAI EITAPEGSFA
SADALLSRLA HPVSLCGALD YLEPDLAEKN PPLFAQKLQE ELEFAIMRIE ALKLARQIAL
ASRSHQDAKR EAAHPTDVSI SKTALYSRIG TTEVEKPAGL LFQQPDLDSA LQIARAEIIT
KEREVSEWKD KYEESRREVM EMRKIVAEYE KTIAQMIEDE QREKSVSHQT VQQLVLEKEQ
ALADLNSVEK SLADLFRRYE KMKEVLEGFR KNEEVLKRCA QEYLSRVKKE EQRYQALKVH
AEEKLDRANA EIAQVRGKAQ QEQAAHQASL RKEQLRVDAL ERTLEQKNKE IEELTKICDE
LIAKMGKS*

speed

1.45 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999764792 (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)

chr10:123996976G>AN/A show variant in all transcripts IGV

HGNC symbol

TACC2

Ensembl transcript ID

ENST00000513429

Genbank transcript ID

NM_206861

UniProt peptide

O95359

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2632G>A
cDNA.2972G>A
g.248288G>A

AA changes

A878T Score: 58 explain score(s)

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

878

frameshift

known variant

Reference ID: rs2295879

database	homozygous (A/A)	heterozygous	allele carriers
1000G	194	960	1154
ExAC	5843	21081	26924

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.891	0
	-0.382	0.001
(flanking)	3.684	0.031

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	248282	wt: 0.8313 / mu: 0.8516 (marginal change - not scored)	wt: CAGCCTTGTACTCCCGCATCGGGACCGCTGAGGTGGAGAAA mu: CAGCCTTGTACTCCCGCATCGGGACCACTGAGGTGGAGAAA	atcg\|GGAC
Acc increased	248278	wt: 0.55 / mu: 0.61	wt: AAAACAGCCTTGTACTCCCGCATCGGGACCGCTGAGGTGGA mu: AAAACAGCCTTGTACTCCCGCATCGGGACCACTGAGGTGGA	ccgc\|ATCG
Donor marginally increased	248293	wt: 0.9307 / mu: 0.9811 (marginal change - not scored)	wt: GCTGAGGTGGAGAAA mu: ACTGAGGTGGAGAAA	TGAG\|gtgg
Donor increased	248288	wt: 0.40 / mu: 0.91	wt: GGACCGCTGAGGTGG mu: GGACCACTGAGGTGG	ACCG\|ctga
Donor gained	248290	0.44	mu: ACCACTGAGGTGGAG	CACT\|gagg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

878

mutated

not conserved

878

Ptroglodytes

all identical

ENSPTRG00000003008

2715

Mmulatta

all identical

ENSMMUG00000013033

2714

Fcatus

all identical

ENSFCAG00000003650

2624

Mmusculus

not conserved

ENSMUSG00000030852

2663

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000062790

1115

Dmelanogaster

no alignment

FBgn0026620

n/a

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000015587

762

protein features

start (aa)	end (aa)	feature	details
962	962	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1025	1025	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1267	1267	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1313	1313	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1426	1426	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1562	1562	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1946	1946	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
1949	1949	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
1956	2016	COMPBIAS	Pro-rich.	might get lost (downstream of altered splice site)
2072	2072	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2073	2073	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
2226	2226	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2246	2246	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
2256	2256	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2315	2403	DOMAIN	SPAZ.	might get lost (downstream of altered splice site)
2317	2317	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2321	2321	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2359	2359	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2389	2389	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2390	2390	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2392	2392	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2394	2394	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2403	2403	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2420	2423	COMPBIAS	Poly-Lys.	might get lost (downstream of altered splice site)
2512	2512	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2675	2703	COILED	Potential.	might get lost (downstream of altered splice site)
2746	2947	COILED	Potential.	might get lost (downstream of altered splice site)
2884	2884	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
2896	2896	CONFLICT	R -> Q (in Ref. 3; AAO62629/AAO62630).	might get lost (downstream of altered splice site)
2909	2909	CONFLICT	S -> T (in Ref. 5; AAH39311).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3285 / 3285

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

1095 / 1095

position of stopcodon in wt / mu cDNA

3625 / 3625

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

341 / 341

chromosome

strand

last intron/exon boundary

3560

theoretical NMD boundary in CDS

3169

length of CDS

3285

coding sequence (CDS) position

2632

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

2972

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

248288

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

123996976

original gDNA sequence snippet

TGTACTCCCGCATCGGGACCGCTGAGGTGGAGAAACCTGCA

altered gDNA sequence snippet

TGTACTCCCGCATCGGGACCACTGAGGTGGAGAAACCTGCA

original cDNA sequence snippet

TGTACTCCCGCATCGGGACCGCTGAGGTGGAGAAACCTGCA

altered cDNA sequence snippet

TGTACTCCCGCATCGGGACCACTGAGGTGGAGAAACCTGCA

wildtype AA sequence

MGNENSTSDN QRTLSAQTPR SAQPPGNSQN IKRKQQDTPG SPDHRDASSS PVADDIIQPA
APADLESPTL AASSYHGDVV GQVSTDLIAQ RSSDSEEAFE TPESTTPVKA PPAPPPPPPE
VIPEPEVSTQ PPPEEPGCGS ETVPVPDGPR SDSVEGSPFR PPSHSFSAVF DEDKPIASSG
TYNLDFDNIE LVDTFQTLEP RASDAKNQEG KVNTRRKSTD SVPISKSTLS RSLSLQASDF
DGASSSGNPE AVALAPDAYS TGSSSASSTL KRTKKPRPPS LKKKQTTKKP TETPPVKETQ
QEPDEESLVP SGENLASETK TESAKTEGPS PALLEETPLE PAVGPKAACP LDSESAEGVV
PPASGGGRVQ NSPPVGRKTL PLTTAPEAGE VTPSDSGGQE DSPAKGLSVR LEFDYSEDKS
SWDNQQENPP PTKKIGKKPV AKMPLRRPKM KKTPEKLDNT PASPPRSPAE PNDIPIAKGT
YTFDIDKWDD PNFNPFSSTS KMQESPKLPQ QSYNFDPDTC DESVDPFKTS SKTPSSPSKS
PASFEIPASA MEANGVDGDG LNKPAKKKKT PLKTDTFRVK KSPKRSPLSD PPSQDPTPAA
TPETPPVISA VVHATDEEKL AVTNQKWTCM TVDLEADKQD YPQPSDLSTF VNETKFSSPT
EELDYRNSYE IEYMEKIGSS LPQDDDAPKK QALYLMFDTS QESPVKSSPV RMSESPTPCS
GSSFEETEAL VNTAAKNQHP VPRGLAPNQE SHLQVPEKSS QKELEAMGLG TPSEAIEITA
PEGSFASADA LLSRLAHPVS LCGALDYLEP DLAEKNPPLF AQKLQEELEF AIMRIEALKL
ARQIALASRS HQDAKREAAH PTDVSISKTA LYSRIGTAEV EKPAGLLFQQ PDLDSALQIA
RAEIITKERE VSEWKDKYEE SRREVMEMRK IVAEYEKTIA QMIEDEQREK SVSHQTVQQL
VLEKEQALAD LNSVEKSLAD LFRRYEKMKE VLEGFRKNEE VLKRCAQEYL SRVKKEEQRY
QALKVHAEEK LDRANAEIAQ VRGKAQQEQA AHQASLRKEQ LRVDALERTL EQKNKEIEEL
TKICDELIAK MGKS*

mutated AA sequence

MGNENSTSDN QRTLSAQTPR SAQPPGNSQN IKRKQQDTPG SPDHRDASSS PVADDIIQPA
APADLESPTL AASSYHGDVV GQVSTDLIAQ RSSDSEEAFE TPESTTPVKA PPAPPPPPPE
VIPEPEVSTQ PPPEEPGCGS ETVPVPDGPR SDSVEGSPFR PPSHSFSAVF DEDKPIASSG
TYNLDFDNIE LVDTFQTLEP RASDAKNQEG KVNTRRKSTD SVPISKSTLS RSLSLQASDF
DGASSSGNPE AVALAPDAYS TGSSSASSTL KRTKKPRPPS LKKKQTTKKP TETPPVKETQ
QEPDEESLVP SGENLASETK TESAKTEGPS PALLEETPLE PAVGPKAACP LDSESAEGVV
PPASGGGRVQ NSPPVGRKTL PLTTAPEAGE VTPSDSGGQE DSPAKGLSVR LEFDYSEDKS
SWDNQQENPP PTKKIGKKPV AKMPLRRPKM KKTPEKLDNT PASPPRSPAE PNDIPIAKGT
YTFDIDKWDD PNFNPFSSTS KMQESPKLPQ QSYNFDPDTC DESVDPFKTS SKTPSSPSKS
PASFEIPASA MEANGVDGDG LNKPAKKKKT PLKTDTFRVK KSPKRSPLSD PPSQDPTPAA
TPETPPVISA VVHATDEEKL AVTNQKWTCM TVDLEADKQD YPQPSDLSTF VNETKFSSPT
EELDYRNSYE IEYMEKIGSS LPQDDDAPKK QALYLMFDTS QESPVKSSPV RMSESPTPCS
GSSFEETEAL VNTAAKNQHP VPRGLAPNQE SHLQVPEKSS QKELEAMGLG TPSEAIEITA
PEGSFASADA LLSRLAHPVS LCGALDYLEP DLAEKNPPLF AQKLQEELEF AIMRIEALKL
ARQIALASRS HQDAKREAAH PTDVSISKTA LYSRIGTTEV EKPAGLLFQQ PDLDSALQIA
RAEIITKERE VSEWKDKYEE SRREVMEMRK IVAEYEKTIA QMIEDEQREK SVSHQTVQQL
VLEKEQALAD LNSVEKSLAD LFRRYEKMKE VLEGFRKNEE VLKRCAQEYL SRVKKEEQRY
QALKVHAEEK LDRANAEIAQ VRGKAQQEQA AHQASLRKEQ LRVDALERTL EQKNKEIEEL
TKICDELIAK MGKS*

speed

0.93 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999764792 (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)

chr10:123996976G>AN/A show variant in all transcripts IGV

HGNC symbol

TACC2

Ensembl transcript ID

ENST00000360561

Genbank transcript ID

NM_206860

UniProt peptide

O95359

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2338G>A
cDNA.2837G>A
g.248288G>A

AA changes

A780T Score: 58 explain score(s)

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

780

frameshift

known variant

Reference ID: rs2295879

database	homozygous (A/A)	heterozygous	allele carriers
1000G	194	960	1154
ExAC	5843	21081	26924

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.891	0
	-0.382	0.001
(flanking)	3.684	0.031

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	248282	wt: 0.8313 / mu: 0.8516 (marginal change - not scored)	wt: CAGCCTTGTACTCCCGCATCGGGACCGCTGAGGTGGAGAAA mu: CAGCCTTGTACTCCCGCATCGGGACCACTGAGGTGGAGAAA	atcg\|GGAC
Acc increased	248278	wt: 0.55 / mu: 0.61	wt: AAAACAGCCTTGTACTCCCGCATCGGGACCGCTGAGGTGGA mu: AAAACAGCCTTGTACTCCCGCATCGGGACCACTGAGGTGGA	ccgc\|ATCG
Donor marginally increased	248293	wt: 0.9307 / mu: 0.9811 (marginal change - not scored)	wt: GCTGAGGTGGAGAAA mu: ACTGAGGTGGAGAAA	TGAG\|gtgg
Donor increased	248288	wt: 0.40 / mu: 0.91	wt: GGACCGCTGAGGTGG mu: GGACCACTGAGGTGG	ACCG\|ctga
Donor gained	248290	0.44	mu: ACCACTGAGGTGGAG	CACT\|gagg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

780

mutated

not conserved

780

Ptroglodytes

all identical

ENSPTRG00000003008

2715

Mmulatta

all identical

ENSMMUG00000013033

2714

Fcatus

all identical

ENSFCAG00000003650

2606

Mmusculus

not conserved

ENSMUSG00000030852

2633

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000062790

1085

Dmelanogaster

no alignment

FBgn0026620

n/a

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000015587

733

protein features

start (aa)	end (aa)	feature	details
962	962	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1025	1025	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1267	1267	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1313	1313	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1426	1426	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1562	1562	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1946	1946	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
1949	1949	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
1956	2016	COMPBIAS	Pro-rich.	might get lost (downstream of altered splice site)
2072	2072	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2073	2073	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
2226	2226	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2246	2246	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
2256	2256	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2315	2403	DOMAIN	SPAZ.	might get lost (downstream of altered splice site)
2317	2317	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2321	2321	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2359	2359	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2389	2389	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2390	2390	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2392	2392	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2394	2394	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2403	2403	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2420	2423	COMPBIAS	Poly-Lys.	might get lost (downstream of altered splice site)
2512	2512	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2675	2703	COILED	Potential.	might get lost (downstream of altered splice site)
2746	2947	COILED	Potential.	might get lost (downstream of altered splice site)
2884	2884	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
2896	2896	CONFLICT	R -> Q (in Ref. 3; AAO62629/AAO62630).	might get lost (downstream of altered splice site)
2909	2909	CONFLICT	S -> T (in Ref. 5; AAH39311).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2991 / 2991

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

997 / 997

position of stopcodon in wt / mu cDNA

3490 / 3490

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

500 / 500

chromosome

strand

last intron/exon boundary

3425

theoretical NMD boundary in CDS

2875

length of CDS

2991

coding sequence (CDS) position

2338

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

2837

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

248288

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

123996976

original gDNA sequence snippet

TGTACTCCCGCATCGGGACCGCTGAGGTGGAGAAACCTGCA

altered gDNA sequence snippet

TGTACTCCCGCATCGGGACCACTGAGGTGGAGAAACCTGCA

original cDNA sequence snippet

TGTACTCCCGCATCGGGACCGCTGAGGTGGAGAAACCTGCA

altered cDNA sequence snippet

TGTACTCCCGCATCGGGACCACTGAGGTGGAGAAACCTGCA

wildtype AA sequence

MGGSQSLQPA PASDLNLEAS EAMSSDSEEA FETPESTTPV KAPPAPPPPP PEVIPEPEVS
TQPPPEEPGC GSETVPVPDG PRSDSVEGSP FRPPSHSFSA VFDEDKPIAS SGTYNLDFDN
IELVDTFQTL EPRASDAKNQ EGKVNTRRKS TDSVPISKST LSRSLSLQAS DFDGASSSGN
PEAVALAPDA YSTGSSSASS TLKRTKKPRP PSLKKKQTTK KPTETPPVKE TQQEPDEESL
VPSGENLASE TKTESAKTEG PSPALLEETP LEPAVGPKAA CPLDSESAEG VVPPASGGGR
VQNSPPVGRK TLPLTTAPEA GEVTPSDSGG QEDSPAKGLS VRLEFDYSED KSSWDNQQEN
PPPTKKIGKK PVAKMPLRRP KMKKTPEKLD NTPASPPRSP AEPNDIPIAK GTYTFDIDKW
DDPNFNPFSS TSKMQESPKL PQQSYNFDPD TCDESVDPFK TSSKTPSSPS KSPASFEIPA
SAMEANGVDG DGLNKPAKKK KTPLKTDTFR VKKSPKRSPL SDPPSQDPTP AATPETPPVI
SAVVHATDEE KLAVTNQKWT CMTVDLEADK QDYPQPSDLS TFVNETKFSS PTEELDYRNS
YEIEYMEKIG SSLPQDDDAP KKQALYLMFD TSQESPVKSS PVRMSESPTP CSGSSFEETE
ALVNTAAKNQ HPVPRGLAPN QESHLQVPEK SSQKELEAMG LGTPSEAIEI TAPEGSFASA
DALLSRLAHP VSLCGALDYL EPDLAEKNPP LFAQKLQREA AHPTDVSISK TALYSRIGTA
EVEKPAGLLF QQPDLDSALQ IARAEIITKE REVSEWKDKY EESRREVMEM RKIVAEYEKT
IAQMIEDEQR EKSVSHQTVQ QLVLEKEQAL ADLNSVEKSL ADLFRRYEKM KEVLEGFRKN
EEVLKRCAQE YLSRVKKEEQ RYQALKVHAE EKLDRANAEI AQVRGKAQQE QAAHQASLRK
EQLRVDALER TLEQKNKEIE ELTKICDELI AKMGKS*

mutated AA sequence

MGGSQSLQPA PASDLNLEAS EAMSSDSEEA FETPESTTPV KAPPAPPPPP PEVIPEPEVS
TQPPPEEPGC GSETVPVPDG PRSDSVEGSP FRPPSHSFSA VFDEDKPIAS SGTYNLDFDN
IELVDTFQTL EPRASDAKNQ EGKVNTRRKS TDSVPISKST LSRSLSLQAS DFDGASSSGN
PEAVALAPDA YSTGSSSASS TLKRTKKPRP PSLKKKQTTK KPTETPPVKE TQQEPDEESL
VPSGENLASE TKTESAKTEG PSPALLEETP LEPAVGPKAA CPLDSESAEG VVPPASGGGR
VQNSPPVGRK TLPLTTAPEA GEVTPSDSGG QEDSPAKGLS VRLEFDYSED KSSWDNQQEN
PPPTKKIGKK PVAKMPLRRP KMKKTPEKLD NTPASPPRSP AEPNDIPIAK GTYTFDIDKW
DDPNFNPFSS TSKMQESPKL PQQSYNFDPD TCDESVDPFK TSSKTPSSPS KSPASFEIPA
SAMEANGVDG DGLNKPAKKK KTPLKTDTFR VKKSPKRSPL SDPPSQDPTP AATPETPPVI
SAVVHATDEE KLAVTNQKWT CMTVDLEADK QDYPQPSDLS TFVNETKFSS PTEELDYRNS
YEIEYMEKIG SSLPQDDDAP KKQALYLMFD TSQESPVKSS PVRMSESPTP CSGSSFEETE
ALVNTAAKNQ HPVPRGLAPN QESHLQVPEK SSQKELEAMG LGTPSEAIEI TAPEGSFASA
DALLSRLAHP VSLCGALDYL EPDLAEKNPP LFAQKLQREA AHPTDVSISK TALYSRIGTT
EVEKPAGLLF QQPDLDSALQ IARAEIITKE REVSEWKDKY EESRREVMEM RKIVAEYEKT
IAQMIEDEQR EKSVSHQTVQ QLVLEKEQAL ADLNSVEKSL ADLFRRYEKM KEVLEGFRKN
EEVLKRCAQE YLSRVKKEEQ RYQALKVHAE EKLDRANAEI AQVRGKAQQE QAAHQASLRK
EQLRVDALER TLEQKNKEIE ELTKICDELI AKMGKS*

speed

0.51 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999764792 (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)

chr10:123996976G>AN/A show variant in all transcripts IGV

HGNC symbol

TACC2

Ensembl transcript ID

ENST00000369004

Genbank transcript ID

N/A

UniProt peptide

O95359

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2374G>A
cDNA.2525G>A
g.248288G>A

AA changes

A792T Score: 58 explain score(s)

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

792

frameshift

known variant

Reference ID: rs2295879

database	homozygous (A/A)	heterozygous	allele carriers
1000G	194	960	1154
ExAC	5843	21081	26924

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.891	0
	-0.382	0.001
(flanking)	3.684	0.031

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	248282	wt: 0.8313 / mu: 0.8516 (marginal change - not scored)	wt: CAGCCTTGTACTCCCGCATCGGGACCGCTGAGGTGGAGAAA mu: CAGCCTTGTACTCCCGCATCGGGACCACTGAGGTGGAGAAA	atcg\|GGAC
Acc increased	248278	wt: 0.55 / mu: 0.61	wt: AAAACAGCCTTGTACTCCCGCATCGGGACCGCTGAGGTGGA mu: AAAACAGCCTTGTACTCCCGCATCGGGACCACTGAGGTGGA	ccgc\|ATCG
Donor marginally increased	248293	wt: 0.9307 / mu: 0.9811 (marginal change - not scored)	wt: GCTGAGGTGGAGAAA mu: ACTGAGGTGGAGAAA	TGAG\|gtgg
Donor increased	248288	wt: 0.40 / mu: 0.91	wt: GGACCGCTGAGGTGG mu: GGACCACTGAGGTGG	ACCG\|ctga
Donor gained	248290	0.44	mu: ACCACTGAGGTGGAG	CACT\|gagg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

792

mutated

not conserved

792

Ptroglodytes

all identical

ENSPTRG00000003008

2704

Mmulatta

all identical

ENSMMUG00000013033

2703

Fcatus

all identical

ENSFCAG00000003650

2594

Mmusculus

not conserved

ENSMUSG00000030852

2633

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000062790

1085

Dmelanogaster

no alignment

FBgn0026620

n/a

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000015587

758

protein features

start (aa)	end (aa)	feature	details
962	962	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1025	1025	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1267	1267	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1313	1313	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1426	1426	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1562	1562	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1946	1946	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
1949	1949	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
1956	2016	COMPBIAS	Pro-rich.	might get lost (downstream of altered splice site)
2072	2072	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2073	2073	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
2226	2226	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2246	2246	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
2256	2256	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2315	2403	DOMAIN	SPAZ.	might get lost (downstream of altered splice site)
2317	2317	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2321	2321	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2359	2359	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2389	2389	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2390	2390	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2392	2392	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2394	2394	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2403	2403	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2420	2423	COMPBIAS	Poly-Lys.	might get lost (downstream of altered splice site)
2512	2512	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2675	2703	COILED	Potential.	might get lost (downstream of altered splice site)
2746	2947	COILED	Potential.	might get lost (downstream of altered splice site)
2884	2884	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
2896	2896	CONFLICT	R -> Q (in Ref. 3; AAO62629/AAO62630).	might get lost (downstream of altered splice site)
2909	2909	CONFLICT	S -> T (in Ref. 5; AAH39311).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3027 / 3027

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

1009 / 1009

position of stopcodon in wt / mu cDNA

3178 / 3178

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

last intron/exon boundary

3113

theoretical NMD boundary in CDS

2911

length of CDS

3027

coding sequence (CDS) position

2374

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

2525

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

248288

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

123996976

original gDNA sequence snippet

TGTACTCCCGCATCGGGACCGCTGAGGTGGAGAAACCTGCA

altered gDNA sequence snippet

TGTACTCCCGCATCGGGACCACTGAGGTGGAGAAACCTGCA

original cDNA sequence snippet

TGTACTCCCGCATCGGGACCGCTGAGGTGGAGAAACCTGCA

altered cDNA sequence snippet

TGTACTCCCGCATCGGGACCACTGAGGTGGAGAAACCTGCA

wildtype AA sequence

MGGSQSLQPA PASDLNLEAS EAMSSDSEEA FETPESTTPV KAPPAPPPPP PEVIPEPEVS
TQPPPEEPGC GSETVPVPDG PRSDSVEGSP FRPPSHSFSA VFDEDKPIAS SGTYNLDFDN
IELVDTFQTL EPRASDAKNQ EGKVNTRRKS TDSVPISKST LSRSLSLQAS DFDGASSSGN
PEAVALAPDA YSTGSSSASS TLKRTKKPRP PSLKKKQTTK KPTETPPVKE TQQEPDEESL
VPSGENLASE TKTESAKTEG PSPALLEETP LEPAVGPKAA CPLDSESAEG VVPPASGGGR
VQNSPPVGRK TLPLTTAPEA GEVTPSDSGG QEDSPAKGLS VRLEFDYSED KSSWDNQQEN
PPPTKKIGKK PVAKMPLRRP KMKKTPEKLD NTPASPPRSP AEPNDIPIAK GTYTFDIDKW
DDPNFNPFSS TSKMQESPKL PQQSYNFDPD TCDESVDPFK TSSKTPSSPS KSPASFEIPA
SAMEANGVDG DGLNKPAKKK KTPLKTMVED VMSVCSLFDT FRVKKSPKRS PLSDPPSQDP
TPAATPETPP VISAVVHATD EEKLAVTNQK WTCMTVDLEA DKQDYPQPSD LSTFVNETKF
SSPTEELDYR NSYEIEYMEK IGSSLPQDDD APKKQALYLM FDTSQESPVK SSPVRMSESP
TPCSGSSFEE TEALVNTAAK NQHPVPRGLA PNQESHLQVP EKSSQKELEA MGLGTPSEAI
EITAPEGSFA SADALLSRLA HPVSLCGALD YLEPDLAEKN PPLFAQKLQR EAAHPTDVSI
SKTALYSRIG TAEVEKPAGL LFQQPDLDSA LQIARAEIIT KEREVSEWKD KYEESRREVM
EMRKIVAEYE KTIAQMIEDE QREKSVSHQT VQQLVLEKEQ ALADLNSVEK SLADLFRRYE
KMKEVLEGFR KNEEVLKRCA QEYLSRVKKE EQRYQALKVH AEEKLDRANA EIAQVRGKAQ
QEQAAHQASL RKEQLRVDAL ERTLEQKNKE IEELTKICDE LIAKMGKS*

mutated AA sequence

MGGSQSLQPA PASDLNLEAS EAMSSDSEEA FETPESTTPV KAPPAPPPPP PEVIPEPEVS
TQPPPEEPGC GSETVPVPDG PRSDSVEGSP FRPPSHSFSA VFDEDKPIAS SGTYNLDFDN
IELVDTFQTL EPRASDAKNQ EGKVNTRRKS TDSVPISKST LSRSLSLQAS DFDGASSSGN
PEAVALAPDA YSTGSSSASS TLKRTKKPRP PSLKKKQTTK KPTETPPVKE TQQEPDEESL
VPSGENLASE TKTESAKTEG PSPALLEETP LEPAVGPKAA CPLDSESAEG VVPPASGGGR
VQNSPPVGRK TLPLTTAPEA GEVTPSDSGG QEDSPAKGLS VRLEFDYSED KSSWDNQQEN
PPPTKKIGKK PVAKMPLRRP KMKKTPEKLD NTPASPPRSP AEPNDIPIAK GTYTFDIDKW
DDPNFNPFSS TSKMQESPKL PQQSYNFDPD TCDESVDPFK TSSKTPSSPS KSPASFEIPA
SAMEANGVDG DGLNKPAKKK KTPLKTMVED VMSVCSLFDT FRVKKSPKRS PLSDPPSQDP
TPAATPETPP VISAVVHATD EEKLAVTNQK WTCMTVDLEA DKQDYPQPSD LSTFVNETKF
SSPTEELDYR NSYEIEYMEK IGSSLPQDDD APKKQALYLM FDTSQESPVK SSPVRMSESP
TPCSGSSFEE TEALVNTAAK NQHPVPRGLA PNQESHLQVP EKSSQKELEA MGLGTPSEAI
EITAPEGSFA SADALLSRLA HPVSLCGALD YLEPDLAEKN PPLFAQKLQR EAAHPTDVSI
SKTALYSRIG TTEVEKPAGL LFQQPDLDSA LQIARAEIIT KEREVSEWKD KYEESRREVM
EMRKIVAEYE KTIAQMIEDE QREKSVSHQT VQQLVLEKEQ ALADLNSVEK SLADLFRRYE
KMKEVLEGFR KNEEVLKRCA QEYLSRVKKE EQRYQALKVH AEEKLDRANA EIAQVRGKAQ
QEQAAHQASL RKEQLRVDAL ERTLEQKNKE IEELTKICDE LIAKMGKS*

speed

0.46 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999764792 (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)

chr10:123996976G>AN/A show variant in all transcripts IGV

HGNC symbol

TACC2

Ensembl transcript ID

ENST00000334433

Genbank transcript ID

N/A

UniProt peptide

O95359

alteration type

single base exchange

alteration region

CDS

DNA changes

c.8194G>A
cDNA.8240G>A
g.248288G>A

AA changes

A2732T Score: 58 explain score(s)

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

2732

frameshift

known variant

Reference ID: rs2295879

database	homozygous (A/A)	heterozygous	allele carriers
1000G	194	960	1154
ExAC	5843	21081	26924

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.891	0
	-0.382	0.001
(flanking)	3.684	0.031

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	248282	wt: 0.8313 / mu: 0.8516 (marginal change - not scored)	wt: CAGCCTTGTACTCCCGCATCGGGACCGCTGAGGTGGAGAAA mu: CAGCCTTGTACTCCCGCATCGGGACCACTGAGGTGGAGAAA	atcg\|GGAC
Acc increased	248278	wt: 0.55 / mu: 0.61	wt: AAAACAGCCTTGTACTCCCGCATCGGGACCGCTGAGGTGGA mu: AAAACAGCCTTGTACTCCCGCATCGGGACCACTGAGGTGGA	ccgc\|ATCG
Donor marginally increased	248293	wt: 0.9307 / mu: 0.9811 (marginal change - not scored)	wt: GCTGAGGTGGAGAAA mu: ACTGAGGTGGAGAAA	TGAG\|gtgg
Donor increased	248288	wt: 0.40 / mu: 0.91	wt: GGACCGCTGAGGTGG mu: GGACCACTGAGGTGG	ACCG\|ctga
Donor gained	248290	0.44	mu: ACCACTGAGGTGGAG	CACT\|gagg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

2732

mutated

not conserved

2732

Ptroglodytes

all identical

ENSPTRG00000003008

2715

Mmulatta

all identical

ENSMMUG00000013033

2714

Fcatus

all identical

ENSFCAG00000003650

2624

Mmusculus

not conserved

ENSMUSG00000030852

2663

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000062790

1097

Dmelanogaster

no alignment

FBgn0026620

n/a

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000015587

762

protein features

start (aa)	end (aa)	feature	details
2746	2947	COILED	Potential.	might get lost (downstream of altered splice site)
2884	2884	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
2896	2896	CONFLICT	R -> Q (in Ref. 3; AAO62629/AAO62630).	might get lost (downstream of altered splice site)
2909	2909	CONFLICT	S -> T (in Ref. 5; AAH39311).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

8847 / 8847

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

2949 / 2949

position of stopcodon in wt / mu cDNA

8893 / 8893

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

47 / 47

chromosome

strand

last intron/exon boundary

8828

theoretical NMD boundary in CDS

8731

length of CDS

8847

coding sequence (CDS) position

8194

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

8240

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

248288

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

123996976

original gDNA sequence snippet

TGTACTCCCGCATCGGGACCGCTGAGGTGGAGAAACCTGCA

altered gDNA sequence snippet

TGTACTCCCGCATCGGGACCACTGAGGTGGAGAAACCTGCA

original cDNA sequence snippet

TGTACTCCCGCATCGGGACCGCTGAGGTGGAGAAACCTGCA

altered cDNA sequence snippet

TGTACTCCCGCATCGGGACCACTGAGGTGGAGAAACCTGCA

wildtype AA sequence

MGNENSTSDN QRTLSAQTPR SAQPPGNSQN IKRKQQDTPG SPDHRDASSI GSVGLGGFCT
ASESSASLDP CLVSPEVTEP RKDPQGARGP EGSLLPSPPP SQEREHPSSS MPFAECPPEG
CLASPAAAPE DGPQTQSPRR EPAPNAPGDI AAAFPAERDS STPYQEIAAV PSAGRERQPK
EEGQKSSFSF SSGIDQSPGM SPVPLREPMK APLCGEGDQP GGFESQEKEA AGGFPPAESR
QGVASVQVTP EAPAAAQQGT ESSAVLEKSP LKPMAPIPQD PAPRASDRER GQGEAPPQYL
TDDLEFLRAC HLPRSNSGAA PEAEVNAASQ ESCQQPVGAY LPHAELPWGL PSPALVPEAG
GSGKEALDTI DVQGHPQTGM RGTKPNQVVC VAAGGQPEGG LPVSPEPSLL TPTEEAHPAS
SLASFPAAQI PIAVEEPGSS SRESVSKAGM PVSADAAKEV VDAGLVGLER QVSDLGSKGE
HPEGDPGEVP APSPQERGEH LNTEQSHEVQ PGVPPPPLPK EQSHEVQPGA PPPPLPKAPS
ESARGPPGPT DGAKVHEDST SPAVAKEGSR SPGDSPGGKE EAPEPPDGGD PGNLQGEDSQ
AFSSKRDPEV GKDELSKPSS DAESRDHPSS HSAQPPRKGG AGHTDGPHSQ TAEADASGLP
HKLGEEDPVL PPVPDGAGEP TVPEGAIWEG SGLQPKCPDT LQSREGLGRM ESFLTLESEK
SDFPPTPVAE VAPKAQEGES TLEIRKMGSC DGEGLLTSPD QPRGPACDAS RQEFHAGVPH
PPQGENLAAD LGLTALILDQ DQQGIPSCPG EGWIRGAASE WPLLSSEKHL QPSQAQPETS
IFDVLKEQAQ PPENGKETSP SHPGFKDQGA DSSQIHVPVE PQEDNNLPTH GGQEQALGSE
LQSQLPKGTL SDTPTSSPTD MVWESSLTEE SELSAPTRQK LPALGEKRPE GACGDGQSSR
VSPPAADVLK DFSLAGNFSR KETCCTGQGP NKSQQALADA LEEGSQHEEA CQRHPGASEA
ADGCSPLWGL SKREMASGNT GEAPPCQPDS VALLDAVPCL PALAPASPGV TPTQDAPETE
ACDETQEGRQ QPVPAPQQKM ECWATSDAES PKLLASFPSA GEQGGEAGAA ETGGSAGAGD
PGKQQAPEKP GEATLSCGLL QTEHCLTSGE EASTSALRES CQAEHPMASC QDALLPAREL
GGIPRSTMDF STHQAVPDPK ELLLSGPPEV AAPDTPYLHV DSAAQRGAED SGVKAVSSAD
PRAPGESPCP VGEPPLALEN AASLKLFAGS LAPLLQPGAA GGEIPAVQAS SGSPKARTTE
GPVDSMPCLD RMPLLAKGKQ ATGEEKAATA PGAGAKASGE GMAGDAAGET EGSMERMGEP
SQDPKQGTSG GVDTSSEQIA TLTGFPDFRE HIAKIFEKPV LGALATPGEK AGAGRSAVGK
DLTRPLGPEK LLDGPPGVDV TLLPAPPARL QVEKKQQLAG EAEISHLALQ DPASDKLLGP
AGLTWERNLP GAGVGKEMAG VPPTLREDER PEGPGAAWPG LEGQAYSQLE RSRQELASGL
PSPAATQELP VERAAAFQVA PHSHGEEAVA QDRIPSGKQH QETSACDSPH GEDGPGDFAH
TGVPGHVPRS TCAPSPQREV LTVPEANSEP WTLDTLGGER RPGVTAGILE MRNALGNQST
PAPPTGEVAD TPLEPGKVAG AAGEAEGDIT LSTAETQACA SGDLPEAGTT RTFSVVAGDL
VLPGSCQDPA CSDKAPGMEG TAALHGDSPA RPQQAKEQPG PERPIPAGDG KVCVSSPPEP
DETHDPKLQH LAPEELHTDR ESPRPGPSML PSVPKKDAPR VMDKVTSDET RGAEGTESSP
VADDIIQPAA PADLESPTLA ASSYHGDVVG QVSTDLIAQS ISPAAAHAGL PPSAAEHIVS
PSAPAGDRVE ASTPSCPDPA KDLSRSSDSE EAFETPESTT PVKAPPAPPP PPPEVIPEPE
VSTQPPPEEP GCGSETVPVP DGPRSDSVEG SPFRPPSHSF SAVFDEDKPI ASSGTYNLDF
DNIELVDTFQ TLEPRASDAK NQEGKVNTRR KSTDSVPISK STLSRSLSLQ ASDFDGASSS
GNPEAVALAP DAYSTGSSSA SSTLKRTKKP RPPSLKKKQT TKKPTETPPV KETQQEPDEE
SLVPSGENLA SETKTESAKT EGPSPALLEE TPLEPAVGPK AACPLDSESA EGVVPPASGG
GRVQNSPPVG RKTLPLTTAP EAGEVTPSDS GGQEDSPAKG LSVRLEFDYS EDKSSWDNQQ
ENPPPTKKIG KKPVAKMPLR RPKMKKTPEK LDNTPASPPR SPAEPNDIPI AKGTYTFDID
KWDDPNFNPF SSTSKMQESP KLPQQSYNFD PDTCDESVDP FKTSSKTPSS PSKSPASFEI
PASAMEANGV DGDGLNKPAK KKKTPLKTDT FRVKKSPKRS PLSDPPSQDP TPAATPETPP
VISAVVHATD EEKLAVTNQK WTCMTVDLEA DKQDYPQPSD LSTFVNETKF SSPTEELDYR
NSYEIEYMEK IGSSLPQDDD APKKQALYLM FDTSQESPVK SSPVRMSESP TPCSGSSFEE
TEALVNTAAK NQHPVPRGLA PNQESHLQVP EKSSQKELEA MGLGTPSEAI EITAPEGSFA
SADALLSRLA HPVSLCGALD YLEPDLAEKN PPLFAQKLQE ELEFAIMRIE ALKLARQIAL
ASRSHQDAKR EAAHPTDVSI SKTALYSRIG TAEVEKPAGL LFQQPDLDSA LQIARAEIIT
KEREVSEWKD KYEESRREVM EMRKIVAEYE KTIAQMIEDE QREKSVSHQT VQQLVLEKEQ
ALADLNSVEK SLADLFRRYE KMKEVLEGFR KNEEVLKRCA QEYLSRVKKE EQRYQALKVH
AEEKLDRANA EIAQVRGKAQ QEQAAHQASL RKEQLRVDAL ERTLEQKNKE IEELTKICDE
LIAKMGKS*

mutated AA sequence

MGNENSTSDN QRTLSAQTPR SAQPPGNSQN IKRKQQDTPG SPDHRDASSI GSVGLGGFCT
ASESSASLDP CLVSPEVTEP RKDPQGARGP EGSLLPSPPP SQEREHPSSS MPFAECPPEG
CLASPAAAPE DGPQTQSPRR EPAPNAPGDI AAAFPAERDS STPYQEIAAV PSAGRERQPK
EEGQKSSFSF SSGIDQSPGM SPVPLREPMK APLCGEGDQP GGFESQEKEA AGGFPPAESR
QGVASVQVTP EAPAAAQQGT ESSAVLEKSP LKPMAPIPQD PAPRASDRER GQGEAPPQYL
TDDLEFLRAC HLPRSNSGAA PEAEVNAASQ ESCQQPVGAY LPHAELPWGL PSPALVPEAG
GSGKEALDTI DVQGHPQTGM RGTKPNQVVC VAAGGQPEGG LPVSPEPSLL TPTEEAHPAS
SLASFPAAQI PIAVEEPGSS SRESVSKAGM PVSADAAKEV VDAGLVGLER QVSDLGSKGE
HPEGDPGEVP APSPQERGEH LNTEQSHEVQ PGVPPPPLPK EQSHEVQPGA PPPPLPKAPS
ESARGPPGPT DGAKVHEDST SPAVAKEGSR SPGDSPGGKE EAPEPPDGGD PGNLQGEDSQ
AFSSKRDPEV GKDELSKPSS DAESRDHPSS HSAQPPRKGG AGHTDGPHSQ TAEADASGLP
HKLGEEDPVL PPVPDGAGEP TVPEGAIWEG SGLQPKCPDT LQSREGLGRM ESFLTLESEK
SDFPPTPVAE VAPKAQEGES TLEIRKMGSC DGEGLLTSPD QPRGPACDAS RQEFHAGVPH
PPQGENLAAD LGLTALILDQ DQQGIPSCPG EGWIRGAASE WPLLSSEKHL QPSQAQPETS
IFDVLKEQAQ PPENGKETSP SHPGFKDQGA DSSQIHVPVE PQEDNNLPTH GGQEQALGSE
LQSQLPKGTL SDTPTSSPTD MVWESSLTEE SELSAPTRQK LPALGEKRPE GACGDGQSSR
VSPPAADVLK DFSLAGNFSR KETCCTGQGP NKSQQALADA LEEGSQHEEA CQRHPGASEA
ADGCSPLWGL SKREMASGNT GEAPPCQPDS VALLDAVPCL PALAPASPGV TPTQDAPETE
ACDETQEGRQ QPVPAPQQKM ECWATSDAES PKLLASFPSA GEQGGEAGAA ETGGSAGAGD
PGKQQAPEKP GEATLSCGLL QTEHCLTSGE EASTSALRES CQAEHPMASC QDALLPAREL
GGIPRSTMDF STHQAVPDPK ELLLSGPPEV AAPDTPYLHV DSAAQRGAED SGVKAVSSAD
PRAPGESPCP VGEPPLALEN AASLKLFAGS LAPLLQPGAA GGEIPAVQAS SGSPKARTTE
GPVDSMPCLD RMPLLAKGKQ ATGEEKAATA PGAGAKASGE GMAGDAAGET EGSMERMGEP
SQDPKQGTSG GVDTSSEQIA TLTGFPDFRE HIAKIFEKPV LGALATPGEK AGAGRSAVGK
DLTRPLGPEK LLDGPPGVDV TLLPAPPARL QVEKKQQLAG EAEISHLALQ DPASDKLLGP
AGLTWERNLP GAGVGKEMAG VPPTLREDER PEGPGAAWPG LEGQAYSQLE RSRQELASGL
PSPAATQELP VERAAAFQVA PHSHGEEAVA QDRIPSGKQH QETSACDSPH GEDGPGDFAH
TGVPGHVPRS TCAPSPQREV LTVPEANSEP WTLDTLGGER RPGVTAGILE MRNALGNQST
PAPPTGEVAD TPLEPGKVAG AAGEAEGDIT LSTAETQACA SGDLPEAGTT RTFSVVAGDL
VLPGSCQDPA CSDKAPGMEG TAALHGDSPA RPQQAKEQPG PERPIPAGDG KVCVSSPPEP
DETHDPKLQH LAPEELHTDR ESPRPGPSML PSVPKKDAPR VMDKVTSDET RGAEGTESSP
VADDIIQPAA PADLESPTLA ASSYHGDVVG QVSTDLIAQS ISPAAAHAGL PPSAAEHIVS
PSAPAGDRVE ASTPSCPDPA KDLSRSSDSE EAFETPESTT PVKAPPAPPP PPPEVIPEPE
VSTQPPPEEP GCGSETVPVP DGPRSDSVEG SPFRPPSHSF SAVFDEDKPI ASSGTYNLDF
DNIELVDTFQ TLEPRASDAK NQEGKVNTRR KSTDSVPISK STLSRSLSLQ ASDFDGASSS
GNPEAVALAP DAYSTGSSSA SSTLKRTKKP RPPSLKKKQT TKKPTETPPV KETQQEPDEE
SLVPSGENLA SETKTESAKT EGPSPALLEE TPLEPAVGPK AACPLDSESA EGVVPPASGG
GRVQNSPPVG RKTLPLTTAP EAGEVTPSDS GGQEDSPAKG LSVRLEFDYS EDKSSWDNQQ
ENPPPTKKIG KKPVAKMPLR RPKMKKTPEK LDNTPASPPR SPAEPNDIPI AKGTYTFDID
KWDDPNFNPF SSTSKMQESP KLPQQSYNFD PDTCDESVDP FKTSSKTPSS PSKSPASFEI
PASAMEANGV DGDGLNKPAK KKKTPLKTDT FRVKKSPKRS PLSDPPSQDP TPAATPETPP
VISAVVHATD EEKLAVTNQK WTCMTVDLEA DKQDYPQPSD LSTFVNETKF SSPTEELDYR
NSYEIEYMEK IGSSLPQDDD APKKQALYLM FDTSQESPVK SSPVRMSESP TPCSGSSFEE
TEALVNTAAK NQHPVPRGLA PNQESHLQVP EKSSQKELEA MGLGTPSEAI EITAPEGSFA
SADALLSRLA HPVSLCGALD YLEPDLAEKN PPLFAQKLQE ELEFAIMRIE ALKLARQIAL
ASRSHQDAKR EAAHPTDVSI SKTALYSRIG TTEVEKPAGL LFQQPDLDSA LQIARAEIIT
KEREVSEWKD KYEESRREVM EMRKIVAEYE KTIAQMIEDE QREKSVSHQT VQQLVLEKEQ
ALADLNSVEK SLADLFRRYE KMKEVLEGFR KNEEVLKRCA QEYLSRVKKE EQRYQALKVH
AEEKLDRANA EIAQVRGKAQ QEQAAHQASL RKEQLRVDAL ERTLEQKNKE IEELTKICDE
LIAKMGKS*

speed

0.53 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999764792 (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)

chr10:123996976G>AN/A show variant in all transcripts IGV

HGNC symbol

TACC2

Ensembl transcript ID

ENST00000358010

Genbank transcript ID

N/A

UniProt peptide

O95359

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2632G>A
cDNA.2678G>A
g.248288G>A

AA changes

A878T Score: 58 explain score(s)

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

878

frameshift

known variant

Reference ID: rs2295879

database	homozygous (A/A)	heterozygous	allele carriers
1000G	194	960	1154
ExAC	5843	21081	26924

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.891	0
	-0.382	0.001
(flanking)	3.684	0.031

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	248282	wt: 0.8313 / mu: 0.8516 (marginal change - not scored)	wt: CAGCCTTGTACTCCCGCATCGGGACCGCTGAGGTGGAGAAA mu: CAGCCTTGTACTCCCGCATCGGGACCACTGAGGTGGAGAAA	atcg\|GGAC
Acc increased	248278	wt: 0.55 / mu: 0.61	wt: AAAACAGCCTTGTACTCCCGCATCGGGACCGCTGAGGTGGA mu: AAAACAGCCTTGTACTCCCGCATCGGGACCACTGAGGTGGA	ccgc\|ATCG
Donor marginally increased	248293	wt: 0.9307 / mu: 0.9811 (marginal change - not scored)	wt: GCTGAGGTGGAGAAA mu: ACTGAGGTGGAGAAA	TGAG\|gtgg
Donor increased	248288	wt: 0.40 / mu: 0.91	wt: GGACCGCTGAGGTGG mu: GGACCACTGAGGTGG	ACCG\|ctga
Donor gained	248290	0.44	mu: ACCACTGAGGTGGAG	CACT\|gagg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

878

mutated

not conserved

878

Ptroglodytes

all identical

ENSPTRG00000003008

2715

Mmulatta

all identical

ENSMMUG00000013033

2714

Fcatus

all identical

ENSFCAG00000003650

2624

Mmusculus

not conserved

ENSMUSG00000030852

2663

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000062790

1115

Dmelanogaster

no alignment

FBgn0026620

n/a

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000015587

762

protein features

start (aa)	end (aa)	feature	details
962	962	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1025	1025	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1267	1267	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1313	1313	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1426	1426	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1562	1562	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1946	1946	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
1949	1949	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
1956	2016	COMPBIAS	Pro-rich.	might get lost (downstream of altered splice site)
2072	2072	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2073	2073	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
2226	2226	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2246	2246	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
2256	2256	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2315	2403	DOMAIN	SPAZ.	might get lost (downstream of altered splice site)
2317	2317	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2321	2321	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2359	2359	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2389	2389	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2390	2390	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2392	2392	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2394	2394	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2403	2403	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2420	2423	COMPBIAS	Poly-Lys.	might get lost (downstream of altered splice site)
2512	2512	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2675	2703	COILED	Potential.	might get lost (downstream of altered splice site)
2746	2947	COILED	Potential.	might get lost (downstream of altered splice site)
2884	2884	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
2896	2896	CONFLICT	R -> Q (in Ref. 3; AAO62629/AAO62630).	might get lost (downstream of altered splice site)
2909	2909	CONFLICT	S -> T (in Ref. 5; AAH39311).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3285 / 3285

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

1095 / 1095

position of stopcodon in wt / mu cDNA

3331 / 3331

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

47 / 47

chromosome

strand

last intron/exon boundary

3266

theoretical NMD boundary in CDS

3169

length of CDS

3285

coding sequence (CDS) position

2632

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

2678

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

248288

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

123996976

original gDNA sequence snippet

TGTACTCCCGCATCGGGACCGCTGAGGTGGAGAAACCTGCA

altered gDNA sequence snippet

TGTACTCCCGCATCGGGACCACTGAGGTGGAGAAACCTGCA

original cDNA sequence snippet

TGTACTCCCGCATCGGGACCGCTGAGGTGGAGAAACCTGCA

altered cDNA sequence snippet

TGTACTCCCGCATCGGGACCACTGAGGTGGAGAAACCTGCA

wildtype AA sequence

mutated AA sequence

MGNENSTSDN QRTLSAQTPR SAQPPGNSQN IKRKQQDTPG SPDHRDASSS PVADDIIQPA
APADLESPTL AASSYHGDVV GQVSTDLIAQ RSSDSEEAFE TPESTTPVKA PPAPPPPPPE
VIPEPEVSTQ PPPEEPGCGS ETVPVPDGPR SDSVEGSPFR PPSHSFSAVF DEDKPIASSG
TYNLDFDNIE LVDTFQTLEP RASDAKNQEG KVNTRRKSTD SVPISKSTLS RSLSLQASDF
DGASSSGNPE AVALAPDAYS TGSSSASSTL KRTKKPRPPS LKKKQTTKKP TETPPVKETQ
QEPDEESLVP SGENLASETK TESAKTEGPS PALLEETPLE PAVGPKAACP LDSESAEGVV
PPASGGGRVQ NSPPVGRKTL PLTTAPEAGE VTPSDSGGQE DSPAKGLSVR LEFDYSEDKS
SWDNQQENPP PTKKIGKKPV AKMPLRRPKM KKTPEKLDNT PASPPRSPAE PNDIPIAKGT
YTFDIDKWDD PNFNPFSSTS KMQESPKLPQ QSYNFDPDTC DESVDPFKTS SKTPSSPSKS
PASFEIPASA MEANGVDGDG LNKPAKKKKT PLKTDTFRVK KSPKRSPLSD PPSQDPTPAA
TPETPPVISA VVHATDEEKL AVTNQKWTCM TVDLEADKQD YPQPSDLSTF VNETKFSSPT
EELDYRNSYE IEYMEKIGSS LPQDDDAPKK QALYLMFDTS QESPVKSSPV RMSESPTPCS
GSSFEETEAL VNTAAKNQHP VPRGLAPNQE SHLQVPEKSS QKELEAMGLG TPSEAIEITA
PEGSFASADA LLSRLAHPVS LCGALDYLEP DLAEKNPPLF AQKLQEELEF AIMRIEALKL
ARQIALASRS HQDAKREAAH PTDVSISKTA LYSRIGTTEV EKPAGLLFQQ PDLDSALQIA
RAEIITKERE VSEWKDKYEE SRREVMEMRK IVAEYEKTIA QMIEDEQREK SVSHQTVQQL
VLEKEQALAD LNSVEKSLAD LFRRYEKMKE VLEGFRKNEE VLKRCAQEYL SRVKKEEQRY
QALKVHAEEK LDRANAEIAQ VRGKAQQEQA AHQASLRKEQ LRVDALERTL EQKNKEIEEL
TKICDELIAK MGKS*

speed

1.34 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999112341 (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)

chr10:123996976G>AN/A show variant in all transcripts IGV

HGNC symbol

TACC2

Ensembl transcript ID

ENST00000368999

Genbank transcript ID

N/A

UniProt peptide

O95359

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2464G>A
cDNA.2799G>A
g.248288G>A

AA changes

A822T Score: 58 explain score(s)

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

822

frameshift

known variant

Reference ID: rs2295879

database	homozygous (A/A)	heterozygous	allele carriers
1000G	194	960	1154
ExAC	5843	21081	26924

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.891	0
	-0.382	0.001
(flanking)	3.684	0.031

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	248282	wt: 0.8313 / mu: 0.8516 (marginal change - not scored)	wt: CAGCCTTGTACTCCCGCATCGGGACCGCTGAGGTGGAGAAA mu: CAGCCTTGTACTCCCGCATCGGGACCACTGAGGTGGAGAAA	atcg\|GGAC
Acc increased	248278	wt: 0.55 / mu: 0.61	wt: AAAACAGCCTTGTACTCCCGCATCGGGACCGCTGAGGTGGA mu: AAAACAGCCTTGTACTCCCGCATCGGGACCACTGAGGTGGA	ccgc\|ATCG
Donor marginally increased	248293	wt: 0.9307 / mu: 0.9811 (marginal change - not scored)	wt: GCTGAGGTGGAGAAA mu: ACTGAGGTGGAGAAA	TGAG\|gtgg
Donor increased	248288	wt: 0.40 / mu: 0.91	wt: GGACCGCTGAGGTGG mu: GGACCACTGAGGTGG	ACCG\|ctga
Donor gained	248290	0.44	mu: ACCACTGAGGTGGAG	CACT\|gagg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

822

mutated

not conserved

822

Ptroglodytes

all identical

ENSPTRG00000003008

2715

Mmulatta

all identical

ENSMMUG00000013033

2714

Fcatus

all identical

ENSFCAG00000003650

2624

Mmusculus

not conserved

ENSMUSG00000030852

2663

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000062790

1113

Dmelanogaster

all conserved

FBgn0026620

1172

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000015587

758

protein features

start (aa)	end (aa)	feature	details
962	962	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1025	1025	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1267	1267	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1313	1313	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1426	1426	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1562	1562	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1946	1946	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
1949	1949	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
1956	2016	COMPBIAS	Pro-rich.	might get lost (downstream of altered splice site)
2072	2072	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2073	2073	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
2226	2226	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2246	2246	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
2256	2256	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2315	2403	DOMAIN	SPAZ.	might get lost (downstream of altered splice site)
2317	2317	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2321	2321	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2359	2359	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2389	2389	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2390	2390	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2392	2392	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2394	2394	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2403	2403	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2420	2423	COMPBIAS	Poly-Lys.	might get lost (downstream of altered splice site)
2512	2512	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2675	2703	COILED	Potential.	might get lost (downstream of altered splice site)
2746	2947	COILED	Potential.	might get lost (downstream of altered splice site)
2884	2884	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
2896	2896	CONFLICT	R -> Q (in Ref. 3; AAO62629/AAO62630).	might get lost (downstream of altered splice site)
2909	2909	CONFLICT	S -> T (in Ref. 5; AAH39311).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3117 / 3117

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

1039 / 1039

position of stopcodon in wt / mu cDNA

3452 / 3452

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

336 / 336

chromosome

strand

last intron/exon boundary

3387

theoretical NMD boundary in CDS

3001

length of CDS

3117

coding sequence (CDS) position

2464

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

2799

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

248288

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

123996976

original gDNA sequence snippet

TGTACTCCCGCATCGGGACCGCTGAGGTGGAGAAACCTGCA

altered gDNA sequence snippet

TGTACTCCCGCATCGGGACCACTGAGGTGGAGAAACCTGCA

original cDNA sequence snippet

TGTACTCCCGCATCGGGACCGCTGAGGTGGAGAAACCTGCA

altered cDNA sequence snippet

TGTACTCCCGCATCGGGACCACTGAGGTGGAGAAACCTGCA

wildtype AA sequence

MGGSQSLQPA PASDLNLEAS EAMSSDSEEA FETPESTTPV KAPPAPPPPP PEVIPEPEVS
TQPPPEEPGC GSETVPVPDG PRSDSVEGSP FRPPSHSFSA VFDEDKPIAS SGTYNLDFDN
IELVDTFQTL EPRASDAKNQ EGKVNTRRKS TDSVPISKST LSRSLSLQAS DFDGASSSGN
PEAVALAPDA YSTGSSSASS TLKRTKKPRP PSLKKKQTTK KPTETPPVKE TQQEPDEESL
VPSGENLASE TKTESAKTEG PSPALLEETP LEPAVGPKAA CPLDSESAEG VVPPASGGGR
VQNSPPVGRK TLPLTTAPEA GEVTPSDSGG QEDSPAKGLS VRLEFDYSED KSSWDNQQEN
PPPTKKIGKK PVAKMPLRRP KMKKTPEKLD NTPASPPRSP AEPNDIPIAK GTYTFDIDKW
DDPNFNPFSS TSKMQESPKL PQQSYNFDPD TCDESVDPFK TSSKTPSSPS KSPASFEIPA
SAMEANGVDG DGLNKPAKKK KTPLKTMVED VMSVCSLFDT FRVKKSPKRS PLSDPPSQDP
TPAATPETPP VISAVVHATD EEKLAVTNQK WTCMTVDLEA DKQDYPQPSD LSTFVNETKF
SSPTEELDYR NSYEIEYMEK IGSSLPQDDD APKKQALYLM FDTSQESPVK SSPVRMSESP
TPCSGSSFEE TEALVNTAAK NQHPVPRGLA PNQESHLQVP EKSSQKELEA MGLGTPSEAI
EITAPEGSFA SADALLSRLA HPVSLCGALD YLEPDLAEKN PPLFAQKLQE ELEFAIMRIE
ALKLARQIAL ASRSHQDAKR EAAHPTDVSI SKTALYSRIG TAEVEKPAGL LFQQPDLDSA
LQIARAEIIT KEREVSEWKD KYEESRREVM EMRKIVAEYE KTIAQMIEDE QREKSVSHQT
VQQLVLEKEQ ALADLNSVEK SLADLFRRYE KMKEVLEGFR KNEEVLKRCA QEYLSRVKKE
EQRYQALKVH AEEKLDRANA EIAQVRGKAQ QEQAAHQASL RKEQLRVDAL ERTLEQKNKE
IEELTKICDE LIAKMGKS*

mutated AA sequence

MGGSQSLQPA PASDLNLEAS EAMSSDSEEA FETPESTTPV KAPPAPPPPP PEVIPEPEVS
TQPPPEEPGC GSETVPVPDG PRSDSVEGSP FRPPSHSFSA VFDEDKPIAS SGTYNLDFDN
IELVDTFQTL EPRASDAKNQ EGKVNTRRKS TDSVPISKST LSRSLSLQAS DFDGASSSGN
PEAVALAPDA YSTGSSSASS TLKRTKKPRP PSLKKKQTTK KPTETPPVKE TQQEPDEESL
VPSGENLASE TKTESAKTEG PSPALLEETP LEPAVGPKAA CPLDSESAEG VVPPASGGGR
VQNSPPVGRK TLPLTTAPEA GEVTPSDSGG QEDSPAKGLS VRLEFDYSED KSSWDNQQEN
PPPTKKIGKK PVAKMPLRRP KMKKTPEKLD NTPASPPRSP AEPNDIPIAK GTYTFDIDKW
DDPNFNPFSS TSKMQESPKL PQQSYNFDPD TCDESVDPFK TSSKTPSSPS KSPASFEIPA
SAMEANGVDG DGLNKPAKKK KTPLKTMVED VMSVCSLFDT FRVKKSPKRS PLSDPPSQDP
TPAATPETPP VISAVVHATD EEKLAVTNQK WTCMTVDLEA DKQDYPQPSD LSTFVNETKF
SSPTEELDYR NSYEIEYMEK IGSSLPQDDD APKKQALYLM FDTSQESPVK SSPVRMSESP
TPCSGSSFEE TEALVNTAAK NQHPVPRGLA PNQESHLQVP EKSSQKELEA MGLGTPSEAI
EITAPEGSFA SADALLSRLA HPVSLCGALD YLEPDLAEKN PPLFAQKLQE ELEFAIMRIE
ALKLARQIAL ASRSHQDAKR EAAHPTDVSI SKTALYSRIG TTEVEKPAGL LFQQPDLDSA
LQIARAEIIT KEREVSEWKD KYEESRREVM EMRKIVAEYE KTIAQMIEDE QREKSVSHQT
VQQLVLEKEQ ALADLNSVEK SLADLFRRYE KMKEVLEGFR KNEEVLKRCA QEYLSRVKKE
EQRYQALKVH AEEKLDRANA EIAQVRGKAQ QEQAAHQASL RKEQLRVDAL ERTLEQKNKE
IEELTKICDE LIAKMGKS*

speed

1.38 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999112341 (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)

chr10:123996976G>AN/A show variant in all transcripts IGV

HGNC symbol

TACC2

Ensembl transcript ID

ENST00000260733

Genbank transcript ID

NM_006997

UniProt peptide

O95359

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2428G>A
cDNA.2509G>A
g.248288G>A

AA changes

A810T Score: 58 explain score(s)

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

810

frameshift

known variant

Reference ID: rs2295879

database	homozygous (A/A)	heterozygous	allele carriers
1000G	194	960	1154
ExAC	5843	21081	26924

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.891	0
	-0.382	0.001
(flanking)	3.684	0.031

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	248282	wt: 0.8313 / mu: 0.8516 (marginal change - not scored)	wt: CAGCCTTGTACTCCCGCATCGGGACCGCTGAGGTGGAGAAA mu: CAGCCTTGTACTCCCGCATCGGGACCACTGAGGTGGAGAAA	atcg\|GGAC
Acc increased	248278	wt: 0.55 / mu: 0.61	wt: AAAACAGCCTTGTACTCCCGCATCGGGACCGCTGAGGTGGA mu: AAAACAGCCTTGTACTCCCGCATCGGGACCACTGAGGTGGA	ccgc\|ATCG
Donor marginally increased	248293	wt: 0.9307 / mu: 0.9811 (marginal change - not scored)	wt: GCTGAGGTGGAGAAA mu: ACTGAGGTGGAGAAA	TGAG\|gtgg
Donor increased	248288	wt: 0.40 / mu: 0.91	wt: GGACCGCTGAGGTGG mu: GGACCACTGAGGTGG	ACCG\|ctga
Donor gained	248290	0.44	mu: ACCACTGAGGTGGAG	CACT\|gagg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

810

mutated

not conserved

810

Ptroglodytes

all identical

ENSPTRG00000003008

2715

Mmulatta

all identical

ENSMMUG00000013033

2714

Fcatus

all identical

ENSFCAG00000003650

2624

Mmusculus

not conserved

ENSMUSG00000030852

2663

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000062790

1101

Dmelanogaster

all conserved

FBgn0026620

1172

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000015587

763

protein features

start (aa)	end (aa)	feature	details
962	962	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1025	1025	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1267	1267	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1313	1313	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1426	1426	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
1562	1562	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1946	1946	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
1949	1949	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
1956	2016	COMPBIAS	Pro-rich.	might get lost (downstream of altered splice site)
2072	2072	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2073	2073	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
2226	2226	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2246	2246	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
2256	2256	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2315	2403	DOMAIN	SPAZ.	might get lost (downstream of altered splice site)
2317	2317	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2321	2321	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2359	2359	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2389	2389	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2390	2390	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2392	2392	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2394	2394	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2403	2403	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2420	2423	COMPBIAS	Poly-Lys.	might get lost (downstream of altered splice site)
2512	2512	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2675	2703	COILED	Potential.	might get lost (downstream of altered splice site)
2746	2947	COILED	Potential.	might get lost (downstream of altered splice site)
2884	2884	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
2896	2896	CONFLICT	R -> Q (in Ref. 3; AAO62629/AAO62630).	might get lost (downstream of altered splice site)
2909	2909	CONFLICT	S -> T (in Ref. 5; AAH39311).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3081 / 3081

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

1027 / 1027

position of stopcodon in wt / mu cDNA

3162 / 3162

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

82 / 82

chromosome

strand

last intron/exon boundary

3097

theoretical NMD boundary in CDS

2965

length of CDS

3081

coding sequence (CDS) position

2428

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

2509

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

248288

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

123996976

original gDNA sequence snippet

TGTACTCCCGCATCGGGACCGCTGAGGTGGAGAAACCTGCA

altered gDNA sequence snippet

TGTACTCCCGCATCGGGACCACTGAGGTGGAGAAACCTGCA

original cDNA sequence snippet

TGTACTCCCGCATCGGGACCGCTGAGGTGGAGAAACCTGCA

altered cDNA sequence snippet

TGTACTCCCGCATCGGGACCACTGAGGTGGAGAAACCTGCA

wildtype AA sequence

MGGSQSLQPA PASDLNLEAS EAMSSDSEEA FETPESTTPV KAPPAPPPPP PEVIPEPEVS
TQPPPEEPGC GSETVPVPDG PRSDSVEGSP FRPPSHSFSA VFDEDKPIAS SGTYNLDFDN
IELVDTFQTL EPRASDAKNQ EGKVNTRRKS TDSVPISKST LSRSLSLQAS DFDGASSSGN
PEAVALAPDA YSTGSSSASS TLKRTKKPRP PSLKKKQTTK KPTETPPVKE TQQEPDEESL
VPSGENLASE TKTESAKTEG PSPALLEETP LEPAVGPKAA CPLDSESAEG VVPPASGGGR
VQNSPPVGRK TLPLTTAPEA GEVTPSDSGG QEDSPAKGLS VRLEFDYSED KSSWDNQQEN
PPPTKKIGKK PVAKMPLRRP KMKKTPEKLD NTPASPPRSP AEPNDIPIAK GTYTFDIDKW
DDPNFNPFSS TSKMQESPKL PQQSYNFDPD TCDESVDPFK TSSKTPSSPS KSPASFEIPA
SAMEANGVDG DGLNKPAKKK KTPLKTDTFR VKKSPKRSPL SDPPSQDPTP AATPETPPVI
SAVVHATDEE KLAVTNQKWT CMTVDLEADK QDYPQPSDLS TFVNETKFSS PTEELDYRNS
YEIEYMEKIG SSLPQDDDAP KKQALYLMFD TSQESPVKSS PVRMSESPTP CSGSSFEETE
ALVNTAAKNQ HPVPRGLAPN QESHLQVPEK SSQKELEAMG LGTPSEAIEI TAPEGSFASA
DALLSRLAHP VSLCGALDYL EPDLAEKNPP LFAQKLQEEL EFAIMRIEAL KLARQIALAS
RSHQDAKREA AHPTDVSISK TALYSRIGTA EVEKPAGLLF QQPDLDSALQ IARAEIITKE
REVSEWKDKY EESRREVMEM RKIVAEYEKT IAQMIEDEQR EKSVSHQTVQ QLVLEKEQAL
ADLNSVEKSL ADLFRRYEKM KEVLEGFRKN EEVLKRCAQE YLSRVKKEEQ RYQALKVHAE
EKLDRANAEI AQVRGKAQQE QAAHQASLRK EQLRVDALER TLEQKNKEIE ELTKICDELI
AKMGKS*

mutated AA sequence

MGGSQSLQPA PASDLNLEAS EAMSSDSEEA FETPESTTPV KAPPAPPPPP PEVIPEPEVS
TQPPPEEPGC GSETVPVPDG PRSDSVEGSP FRPPSHSFSA VFDEDKPIAS SGTYNLDFDN
IELVDTFQTL EPRASDAKNQ EGKVNTRRKS TDSVPISKST LSRSLSLQAS DFDGASSSGN
PEAVALAPDA YSTGSSSASS TLKRTKKPRP PSLKKKQTTK KPTETPPVKE TQQEPDEESL
VPSGENLASE TKTESAKTEG PSPALLEETP LEPAVGPKAA CPLDSESAEG VVPPASGGGR
VQNSPPVGRK TLPLTTAPEA GEVTPSDSGG QEDSPAKGLS VRLEFDYSED KSSWDNQQEN
PPPTKKIGKK PVAKMPLRRP KMKKTPEKLD NTPASPPRSP AEPNDIPIAK GTYTFDIDKW
DDPNFNPFSS TSKMQESPKL PQQSYNFDPD TCDESVDPFK TSSKTPSSPS KSPASFEIPA
SAMEANGVDG DGLNKPAKKK KTPLKTDTFR VKKSPKRSPL SDPPSQDPTP AATPETPPVI
SAVVHATDEE KLAVTNQKWT CMTVDLEADK QDYPQPSDLS TFVNETKFSS PTEELDYRNS
YEIEYMEKIG SSLPQDDDAP KKQALYLMFD TSQESPVKSS PVRMSESPTP CSGSSFEETE
ALVNTAAKNQ HPVPRGLAPN QESHLQVPEK SSQKELEAMG LGTPSEAIEI TAPEGSFASA
DALLSRLAHP VSLCGALDYL EPDLAEKNPP LFAQKLQEEL EFAIMRIEAL KLARQIALAS
RSHQDAKREA AHPTDVSISK TALYSRIGTT EVEKPAGLLF QQPDLDSALQ IARAEIITKE
REVSEWKDKY EESRREVMEM RKIVAEYEKT IAQMIEDEQR EKSVSHQTVQ QLVLEKEQAL
ADLNSVEKSL ADLFRRYEKM KEVLEGFRKN EEVLKRCAQE YLSRVKKEEQ RYQALKVHAE
EKLDRANAEI AQVRGKAQQE QAAHQASLRK EQLRVDALER TLEQKNKEIE ELTKICDELI
AKMGKS*

speed

0.50 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

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems