MutationTaster - study a chromosomal position

NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 3 transcript(s)...
Querying Taster for transcript #1: ENST00000394518
Querying Taster for transcript #2: ENST00000361243
Querying Taster for transcript #3: ENST00000394510
MT speed 0 s - this script 3.55997 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
AKAP13	polymorphism_automatic	9.47097955616982e-12	simple_aae		affected		A1046T	single base exchange	rs2614668		show file
AKAP13	polymorphism_automatic	1.23310250899067e-11	simple_aae		affected		A2801T	single base exchange	rs2614668		show file
AKAP13	polymorphism_automatic	1.23310250899067e-11	simple_aae		affected		A2805T	single base exchange	rs2614668		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999990529 (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)

chr15:86287867G>AN/A show variant in all transcripts IGV

HGNC symbol

AKAP13

Ensembl transcript ID

ENST00000394510

Genbank transcript ID

NM_144767

UniProt peptide

Q12802

alteration type

single base exchange

alteration region

CDS

DNA changes

c.3136G>A
cDNA.3362G>A
g.364066G>A

AA changes

A1046T Score: 58 explain score(s)

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

1046

frameshift

known variant

Reference ID: rs2614668

database	homozygous (A/A)	heterozygous	allele carriers
1000G	111	722	833
ExAC	1426	12815	14241

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.253	0.025
	0.393	0.015
(flanking)	0.759	0.01

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 decreased	364057	wt: 0.82 / mu: 0.73	wt: TCTTGGTTTTCACATTTCCAGATGGTCCCGCGTCAGAAGTA mu: TCTTGGTTTTCACATTTCCAGATGGTCCCACGTCAGAAGTA	ccag\|ATGG
Donor marginally increased	364069	wt: 0.9266 / mu: 0.9406 (marginal change - not scored)	wt: CCGCGTCAGAAGTAT mu: CCACGTCAGAAGTAT	GCGT\|caga
Donor increased	364071	wt: 0.28 / mu: 0.41	wt: GCGTCAGAAGTATCA mu: ACGTCAGAAGTATCA	GTCA\|gaag
Donor gained	364062	0.74	mu: GATGGTCCCACGTCA	TGGT\|ccca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

1046

mutated

not conserved

1046

Ptroglodytes

all identical

ENSPTRG00000007414

2801

Mmulatta

not conserved

ENSMMUG00000011251

2717

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000066406

2782

Ggallus

all conserved

ENSGALG00000006840

1198

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000079358

685

AASHLL

Dmelanogaster

no alignment

FBgn0032796

n/a

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
1251	1251	MUTAGEN	A->P: Loss of PKA anchoring; when associated with P-1260.	might get lost (downstream of altered splice site)
1260	1260	MUTAGEN	I->P: Loss of PKA anchoring; when associated with P-1251.	might get lost (downstream of altered splice site)
1265	1265	MUTAGEN	A->P: Abolishes RII-binding.	might get lost (downstream of altered splice site)
1385	1387	CONFLICT	TQA -> MLY (in Ref. 5; AAD21311).	might get lost (downstream of altered splice site)
1471	1474	COMPBIAS	Poly-Ser.	might get lost (downstream of altered splice site)
1534	1537	COMPBIAS	Poly-Glu.	might get lost (downstream of altered splice site)
1547	1547	CONFLICT	N -> H (in Ref. 10; BAD92651).	might get lost (downstream of altered splice site)
1559	1559	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1642	1642	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1645	1645	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1647	1647	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1758	1790	COILED	Potential.	might get lost (downstream of altered splice site)
1766	1768	CONFLICT	EKE -> KKK (in Ref. 9; AAA58670).	might get lost (downstream of altered splice site)
1791	1838	ZN_FING	Phorbol-ester/DAG-type.	might get lost (downstream of altered splice site)
1876	1876	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1877	1877	CONFLICT	A -> G (in Ref. 6; AAD40799).	might get lost (downstream of altered splice site)
1895	1895	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1897	1897	CONFLICT	Q -> E (in Ref. 6; AAD40799).	might get lost (downstream of altered splice site)
1919	2813	REGION	Interaction with ESR1.	might get lost (downstream of altered splice site)
1929	1929	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1932	1932	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1994	2191	DOMAIN	DH.	might get lost (downstream of altered splice site)
2035	2035	CONFLICT	V -> D (in Ref. 5; AAD21311).	might get lost (downstream of altered splice site)
2153	2153	MUTAGEN	Y->F: Loss of interaction with RHOA.	might get lost (downstream of altered splice site)
2166	2168	TURN		might get lost (downstream of altered splice site)
2177	2181	STRAND		might get lost (downstream of altered splice site)
2182	2184	TURN		might get lost (downstream of altered splice site)
2186	2191	HELIX		might get lost (downstream of altered splice site)
2192	2206	HELIX		might get lost (downstream of altered splice site)
2224	2227	HELIX		might get lost (downstream of altered splice site)
2231	2333	DOMAIN	PH.	might get lost (downstream of altered splice site)
2232	2241	STRAND		might get lost (downstream of altered splice site)
2247	2260	STRAND		might get lost (downstream of altered splice site)
2263	2265	STRAND		might get lost (downstream of altered splice site)
2268	2270	STRAND		might get lost (downstream of altered splice site)
2275	2277	STRAND		might get lost (downstream of altered splice site)
2279	2285	STRAND		might get lost (downstream of altered splice site)
2287	2289	STRAND		might get lost (downstream of altered splice site)
2295	2301	STRAND		might get lost (downstream of altered splice site)
2304	2306	STRAND		might get lost (downstream of altered splice site)
2311	2314	STRAND		might get lost (downstream of altered splice site)
2318	2338	HELIX		might get lost (downstream of altered splice site)
2345	2381	COILED	Potential.	might get lost (downstream of altered splice site)
2398	2398	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2402	2402	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2488	2488	CONFLICT	D -> G (in Ref. 5; AAD21311).	might get lost (downstream of altered splice site)
2568	2683	COILED	Potential.	might get lost (downstream of altered splice site)
2667	2668	CONFLICT	QL -> HV (in Ref. 3; BAB62913 and 5; AAD21311).	might get lost (downstream of altered splice site)
2703	2703	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2709	2709	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2728	2728	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2778	2790	COMPBIAS	Poly-Lys.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3177 / 3177

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

1059 / 1059

position of stopcodon in wt / mu cDNA

3403 / 3403

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

227 / 227

chromosome

strand

last intron/exon boundary

3354

theoretical NMD boundary in CDS

3077

length of CDS

3177

coding sequence (CDS) position

3136

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

3362

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

364066

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

86287867

original gDNA sequence snippet

TCACATTTCCAGATGGTCCCGCGTCAGAAGTATCAGCAGAG

altered gDNA sequence snippet

TCACATTTCCAGATGGTCCCACGTCAGAAGTATCAGCAGAG

original cDNA sequence snippet

CTCAGCCCGGTGATGGTCCCGCGTCAGAAGTATCAGCAGAG

altered cDNA sequence snippet

CTCAGCCCGGTGATGGTCCCACGTCAGAAGTATCAGCAGAG

wildtype AA sequence

MSSSKKSKEK EKEKDKIKEK EKDSKDKEKD KKTVNGHTFS SIPVVGPISC SQCMKPFTNK
DAYTCANCSA FVHKGCRESL ASCAKVKMKQ PKGSLQAHDT SSLPTVIMRN KPSQPKERPR
SAVLLVDETA TTPIFANRRS QQSVSLSKSV SIQNITGVGN DENMSNTWKF LSHSTDSLNK
ISKVNESTES LTDEGVGTDM NEGQLLGDFE IESKQLEAES WSRIIDSKFL KQQKKDVVKR
QEVIYELMQT EFHHVRTLKI MSGVYSQGMM ADLLFEQQMV EKLFPCLDEL ISIHSQFFQR
ILERKKESLV DKSEKNFLIK RIGDVLVNQF SGENAERLKK TYGKFCGQHN QSVNYFKDLY
AKDKRFQAFV KKKMSSSVVR RLGIPECILL VTQRITKYPV LFQRILQCTK DNEVEQEDLA
QSLSLVKDVI GAVDSKVASY EKKVRLNEIY TKTDSKSIMR MKSGQMFAKE DLKRKKLVRD
GSVFLKNAAG RLKEVQAVLL TDILVFLQEK DQKYIFASLD QKSTVISLKK LIVREVAHEE
KGLFLISMGM TDPEMVEVHA SSKEERNSWI QIIQDTINTL NRDEDEGIPS ENEEEKKMLD
TRARELKEQL HQKDQKILLL LEEKEMIFRD MAECSTPLPE DCSPTHSPRV LFRSNTEEAL
KGGPLMKSAI NEVEILQGLV SGNLGGTLGP TVSSPIEQDV VGPVSLPRRA ETFGGFDSHQ
MNASKGGEKE EGDDGQDLRR TESDSGLKKG GNANLVFMLK RNSEQVVQSV VHLYELLSAL
QGVVLQQDSY IEDQKLVLSE RALTRSLSRP SSLIEQEKQR SLEKQRQDLA NLQKQQAQYL
EEKRRREREW EARERELRER EALLAQREEE VQQGQQDLEK EREELQQKKG TYQYDLERLR
AAQKQLEREQ EQLRREAERL SQRQTERDLC QVSHPHTKLM RIPSFFPSPE EPPSPSAPSI
AKSGSLDSEL SVSPKRNSIS RTHKDKGPFH ILSSTSQTNK GPEGQSQAPA STSASTRLFG
LTKPKEKKEK KKKNKTSRSQ PGDGPASEVS AEGEEIFC*

mutated AA sequence

speed

0.94 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: 0.999999999987669 (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)

chr15:86287867G>AN/A show variant in all transcripts IGV

HGNC symbol

AKAP13

Ensembl transcript ID

ENST00000394518

Genbank transcript ID

NM_001270546

UniProt peptide

Q12802

alteration type

single base exchange

alteration region

CDS

DNA changes

c.8401G>A
cDNA.8496G>A
g.364066G>A

AA changes

A2801T Score: 58 explain score(s)

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

2801

frameshift

known variant

Reference ID: rs2614668

database	homozygous (A/A)	heterozygous	allele carriers
1000G	111	722	833
ExAC	1426	12815	14241

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.253	0.025
	0.393	0.015
(flanking)	0.759	0.01

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 decreased	364057	wt: 0.82 / mu: 0.73	wt: TCTTGGTTTTCACATTTCCAGATGGTCCCGCGTCAGAAGTA mu: TCTTGGTTTTCACATTTCCAGATGGTCCCACGTCAGAAGTA	ccag\|ATGG
Donor marginally increased	364069	wt: 0.9266 / mu: 0.9406 (marginal change - not scored)	wt: CCGCGTCAGAAGTAT mu: CCACGTCAGAAGTAT	GCGT\|caga
Donor increased	364071	wt: 0.28 / mu: 0.41	wt: GCGTCAGAAGTATCA mu: ACGTCAGAAGTATCA	GTCA\|gaag
Donor gained	364062	0.74	mu: GATGGTCCCACGTCA	TGGT\|ccca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

2801

mutated

not conserved

2801

Ptroglodytes

all identical

ENSPTRG00000007414

2801

Mmulatta

not conserved

ENSMMUG00000011251

2717

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000066406

2782

Ggallus

all conserved

ENSGALG00000006840

1198

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000079358

685

AASHLL

Dmelanogaster

no alignment

FBgn0032796

n/a

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
1919	2813	REGION	Interaction with ESR1.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

8442 / 8442

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

2814 / 2814

position of stopcodon in wt / mu cDNA

8537 / 8537

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

96 / 96

chromosome

strand

last intron/exon boundary

8488

theoretical NMD boundary in CDS

8342

length of CDS

8442

coding sequence (CDS) position

8401

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

8496

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

364066

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

86287867

original gDNA sequence snippet

TCACATTTCCAGATGGTCCCGCGTCAGAAGTATCAGCAGAG

altered gDNA sequence snippet

TCACATTTCCAGATGGTCCCACGTCAGAAGTATCAGCAGAG

original cDNA sequence snippet

CTCAGCCCGGTGATGGTCCCGCGTCAGAAGTATCAGCAGAG

altered cDNA sequence snippet

CTCAGCCCGGTGATGGTCCCACGTCAGAAGTATCAGCAGAG

wildtype AA sequence

MKLNPQQAPL YGDCVVTVLL AEEDKAEDDV VFYLVFLGST LRHCTSTRKV SSDTLETIAP
GHDCCETVKV QLCASKEGLP VFVVAEEDFH FVQDEAYDAA QFLATSAGNQ QALNFTRFLD
QSGPPSGDVN SLDKKLVLAF RHLKLPTEWN VLGTDQSLHD AGPRETLMHF AVRLGLLRLT
WFLLQKPGGR GALSIHNQEG ATPVSLALER GYHKLHQLLT EENAGEPDSW SSLSYEIPYG
DCSVRHHREL DIYTLTSESD SHHEHPFPGD GCTGPIFKLM NIQQQLMKTN LKQMDSLMPL
MMTAQDPSSA PETDGQFLPC APEPTDPQRL SSSEETESTQ CCPGSPVAQT ESPCDLSSIV
EEENTDRSCR KKNKGVERKG EEVEPAPIVD SGTVSDQDSC LQSLPDCGVK GTEGLSSCGN
RNEETGTKSS GMPTDQESLS SGDAVLQRDL VMEPGTAQYS SGGELGGIST TNVSTPDTAG
EMEHGLMNPD ATVWKNVLQG GESTKERFEN SNIGTAGASD VHVTSKPVDK ISVPNCAPAA
SSLDGNKPAE SSLAFSNEET STEKTAETET SRSREESADA PVDQNSVVIP AAAKDKISDG
LEPYTLLAAG IGEAMSPSDL ALLGLEEDVM PHQNSETNSS HAQSQKGKSS PICSTTGDDK
LCADSACQQN TVTSSGDLVA KLCDNIVSES ESTTARQPSS QDPPDASHCE DPQAHTVTSD
PVRDTQERAD FCPFKVVDNK GQRKDVKLDK PLTNMLEVVS HPHPVVPKME KELVPDQAVI
SDSTFSLANS PGSESVTKDD ALSFVPSQKE KGTATPELHT ATDYRDGPDG NSNEPDTRPL
EDRAVGLSTS STAAELQHGM GNTSLTGLGG EHEGPAPPAI PEALNIKGNT DSSLQSVGKA
TLALDSVLTE EGKLLVVSES SAAQEQDKDK AVTCSSIKEN ALSSGTLQEE QRTPPPGQDT
QQFHEKSISA DCAKDKALQL SNSPGASSAF LKAETEHNKE VAPQVSLLTQ GGAAQSLVPP
GASLATESRQ EALGAEHNSS ALLPCLLPDG SDGSDALNCS QPSPLDVGVK NTQSQGKTSA
CEVSGDVTVD VTGVNALQGM AEPRRENISH NTQDILIPNV LLSQEKNAVL GLPVALQDKA
VTDPQGVGTP EMIPLDWEKG KLEGADHSCT MGDAEEAQID DEAHPVLLQP VAKELPTDME
LSAHDDGAPA GVREVMRAPP SGRERSTPSL PCMVSAQDAP LPKGADLIEE AASRIVDAVI
EQVKAAGALL TEGEACHMSL SSPELGPLTK GLESAFTEKV STFPPGESLP MGSTPEEATG
SLAGCFAGRE EPEKIILPVQ GPEPAAEMPD VKAEDEVDFR ASSISEEVAV GSIAATLKMK
QGPMTQAINR ENWCTIEPCP DAASLLASKQ SPECENFLDV GLGRECTSKQ GVLKRESGSD
SDLFHSPSDD MDSIIFPKPE EEHLACDITG SSSSTDDTAS LDRHSSHGSD VSLSQILKPN
RSRDRQSLDG FYSHGMGAEG RESESEPADP GDVEEEEMDS ITEVPANCSV LRSSMRSLSP
FRRHSWGPGK NAASDAEMNH RSSMRVLGDV VRRPPIHRRS FSLEGLTGGA GVGNKPSSSL
EVSSANAEEL RHPFSGEERV DSLVSLSEED LESDQREHRM FDQQICHRSK QQGFNYCTSA
ISSPLTKSIS LMTISHPGLD NSRPFHSTFH NTSANLTESI TEENYNFLPH SPSKKDSEWK
SGTKVSRTFS YIKNKMSSSK KSKEKEKEKD KIKEKEKDSK DKEKDKKTVN GHTFSSIPVV
GPISCSQCMK PFTNKDAYTC ANCSAFVHKG CRESLASCAK VKMKQPKGSL QAHDTSSLPT
VIMRNKPSQP KERPRSAVLL VDETATTPIF ANRRSQQSVS LSKSVSIQNI TGVGNDENMS
NTWKFLSHST DSLNKISKVN ESTESLTDEG VGTDMNEGQL LGDFEIESKQ LEAESWSRII
DSKFLKQQKK DVVKRQEVIY ELMQTEFHHV RTLKIMSGVY SQGMMADLLF EQQMVEKLFP
CLDELISIHS QFFQRILERK KESLVDKSEK NFLIKRIGDV LVNQFSGENA ERLKKTYGKF
CGQHNQSVNY FKDLYAKDKR FQAFVKKKMS SSVVRRLGIP ECILLVTQRI TKYPVLFQRI
LQCTKDNEVE QEDLAQSLSL VKDVIGAVDS KVASYEKKVR LNEIYTKTDS KSIMRMKSGQ
MFAKEDLKRK KLVRDGSVFL KNAAGRLKEV QAVLLTDILV FLQEKDQKYI FASLDQKSTV
ISLKKLIVRE VAHEEKGLFL ISMGMTDPEM VEVHASSKEE RNSWIQIIQD TINTLNRDED
EGIPSENEEE KKMLDTRARE LKEQLHQKDQ KILLLLEEKE MIFRDMAECS TPLPEDCSPT
HSPRVLFRSN TEEALKGGPL MKSAINEVEI LQGLVSGNLG GTLGPTVSSP IEQDVVGPVS
LPRRAETFGG FDSHQMNASK GGEKEEGDDG QDLRRTESDS GLKKGGNANL VFMLKRNSEQ
VVQSVVHLYE LLSALQGVVL QQDSYIEDQK LVLSERALTR SLSRPSSLIE QEKQRSLEKQ
RQDLANLQKQ QAQYLEEKRR REREWEARER ELREREALLA QREEEVQQGQ QDLEKEREEL
QQKKGTYQYD LERLRAAQKQ LEREQEQLRR EAERLSQRQT ERDLCQVSHP HTKLMRIPSF
FPSPEEPPSP SAPSIAKSGS LDSELSVSPK RNSISRTHKD KGPFHILSST SQTNKGPEGQ
SQAPASTSAS TRLFGLTKPK EKKEKKKKNK TSRSQPGDGP ASEVSAEGEE IFC*

mutated AA sequence

speed

0.55 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999987669 (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)

chr15:86287867G>AN/A show variant in all transcripts IGV

HGNC symbol

AKAP13

Ensembl transcript ID

ENST00000361243

Genbank transcript ID

NM_006738

UniProt peptide

Q12802

alteration type

single base exchange

alteration region

CDS

DNA changes

c.8413G>A
cDNA.8494G>A
g.364066G>A

AA changes

A2805T Score: 58 explain score(s)

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

2805

frameshift

known variant

Reference ID: rs2614668

database	homozygous (A/A)	heterozygous	allele carriers
1000G	111	722	833
ExAC	1426	12815	14241

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.253	0.025
	0.393	0.015
(flanking)	0.759	0.01

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 decreased	364057	wt: 0.82 / mu: 0.73	wt: TCTTGGTTTTCACATTTCCAGATGGTCCCGCGTCAGAAGTA mu: TCTTGGTTTTCACATTTCCAGATGGTCCCACGTCAGAAGTA	ccag\|ATGG
Donor marginally increased	364069	wt: 0.9266 / mu: 0.9406 (marginal change - not scored)	wt: CCGCGTCAGAAGTAT mu: CCACGTCAGAAGTAT	GCGT\|caga
Donor increased	364071	wt: 0.28 / mu: 0.41	wt: GCGTCAGAAGTATCA mu: ACGTCAGAAGTATCA	GTCA\|gaag
Donor gained	364062	0.74	mu: GATGGTCCCACGTCA	TGGT\|ccca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

2805

mutated

not conserved

2805

Ptroglodytes

all identical

ENSPTRG00000007414

2801

Mmulatta

not conserved

ENSMMUG00000011251

2717

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000066406

2782

Ggallus

all conserved

ENSGALG00000006840

1198

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000079358

685

AASHLL

Dmelanogaster

no alignment

FBgn0032796

n/a

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
1919	2813	REGION	Interaction with ESR1.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

8454 / 8454

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

2818 / 2818

position of stopcodon in wt / mu cDNA

8535 / 8535

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

8486

theoretical NMD boundary in CDS

8354

length of CDS

8454

coding sequence (CDS) position

8413

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

8494

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

364066

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

86287867

original gDNA sequence snippet

TCACATTTCCAGATGGTCCCGCGTCAGAAGTATCAGCAGAG

altered gDNA sequence snippet

TCACATTTCCAGATGGTCCCACGTCAGAAGTATCAGCAGAG

original cDNA sequence snippet

CTCAGCCCGGTGATGGTCCCGCGTCAGAAGTATCAGCAGAG

altered cDNA sequence snippet

CTCAGCCCGGTGATGGTCCCACGTCAGAAGTATCAGCAGAG

wildtype AA sequence

MKLNPQQAPL YGDCVVTVLL AEEDKAEDDV VFYLVFLGST LRHCTSTRKV SSDTLETIAP
GHDCCETVKV QLCASKEGLP VFVVAEEDFH FVQDEAYDAA QFLATSAGNQ QALNFTRFLD
QSGPPSGDVN SLDKKLVLAF RHLKLPTEWN VLGTDQSLHD AGPRETLMHF AVRLGLLRLT
WFLLQKPGGR GALSIHNQEG ATPVSLALER GYHKLHQLLT EENAGEPDSW SSLSYEIPYG
DCSVRHHREL DIYTLTSESD SHHEHPFPGD GCTGPIFKLM NIQQQLMKTN LKQMDSLMPL
MMTAQDPSSA PETDGQFLPC APEPTDPQRL SSSEETESTQ CCPGSPVAQT ESPCDLSSIV
EEENTDRSCR KKNKGVERKG EEVEPAPIVD SGTVSDQDSC LQSLPDCGVK GTEGLSSCGN
RNEETGTKSS GMPTDQESLS SGDAVLQRDL VMEPGTAQYS SGGELGGIST TNVSTPDTAG
EMEHGLMNPD ATVWKNVLQG GESTKERFEN SNIGTAGASD VHVTSKPVDK ISVPNCAPAA
SSLDGNKPAE SSLAFSNEET STEKTAETET SRSREESADA PVDQNSVVIP AAAKDKISDG
LEPYTLLAAG IGEAMSPSDL ALLGLEEDVM PHQNSETNSS HAQSQKGKSS PICSTTGDDK
LCADSACQQN TVTSSGDLVA KLCDNIVSES ESTTARQPSS QDPPDASHCE DPQAHTVTSD
PVRDTQERAD FCPFKVVDNK GQRKDVKLDK PLTNMLEVVS HPHPVVPKME KELVPDQAVI
SDSTFSLANS PGSESVTKDD ALSFVPSQKE KGTATPELHT ATDYRDGPDG NSNEPDTRPL
EDRAVGLSTS STAAELQHGM GNTSLTGLGG EHEGPAPPAI PEALNIKGNT DSSLQSVGKA
TLALDSVLTE EGKLLVVSES SAAQEQDKDK AVTCSSIKEN ALSSGTLQEE QRTPPPGQDT
QQFHEKSISA DCAKDKALQL SNSPGASSAF LKAETEHNKE VAPQVSLLTQ GGAAQSLVPP
GASLATESRQ EALGAEHNSS ALLPCLLPDG SDGSDALNCS QPSPLDVGVK NTQSQGKTSA
CEVSGDVTVD VTGVNALQGM AEPRRENISH NTQDILIPNV LLSQEKNAVL GLPVALQDKA
VTDPQGVGTP EMIPLDWEKG KLEGADHSCT MGDAEEAQID DEAHPVLLQP VAKELPTDME
LSAHDDGAPA GVREVMRAPP SGRERSTPSL PCMVSAQDAP LPKGADLIEE AASRIVDAVI
EQVKAAGALL TEGEACHMSL SSPELGPLTK GLESAFTEKV STFPPGESLP MGSTPEEATG
SLAGCFAGRE EPEKIILPVQ GPEPAAEMPD VKAEDEVDFR ASSISEEVAV GSIAATLKMK
QGPMTQAINR ENWCTIEPCP DAASLLASKQ SPECENFLDV GLGRECTSKQ GVLKRESGSD
SDLFHSPSDD MDSIIFPKPE EEHLACDITG SSSSTDDTAS LDRHSSHGSD VSLSQILKPN
RSRDRQSLDG FYSHGMGAEG RESESEPADP GDVEEEEMDS ITEVPANCSV LRSSMRSLSP
FRRHSWGPGK NAASDAEMNH RSMSWCPSGV QYSAGLSADF NYRSFSLEGL TGGAGVGNKP
SSSLEVSSAN AEELRHPFSG EERVDSLVSL SEEDLESDQR EHRMFDQQIC HRSKQQGFNY
CTSAISSPLT KSISLMTISH PGLDNSRPFH STFHNTSANL TESITEENYN FLPHSPSKKD
SEWKSGTKVS RTFSYIKNKM SSSKKSKEKE KEKDKIKEKE KDSKDKEKDK KTVNGHTFSS
IPVVGPISCS QCMKPFTNKD AYTCANCSAF VHKGCRESLA SCAKVKMKQP KGSLQAHDTS
SLPTVIMRNK PSQPKERPRS AVLLVDETAT TPIFANRRSQ QSVSLSKSVS IQNITGVGND
ENMSNTWKFL SHSTDSLNKI SKVNESTESL TDEGVGTDMN EGQLLGDFEI ESKQLEAESW
SRIIDSKFLK QQKKDVVKRQ EVIYELMQTE FHHVRTLKIM SGVYSQGMMA DLLFEQQMVE
KLFPCLDELI SIHSQFFQRI LERKKESLVD KSEKNFLIKR IGDVLVNQFS GENAERLKKT
YGKFCGQHNQ SVNYFKDLYA KDKRFQAFVK KKMSSSVVRR LGIPECILLV TQRITKYPVL
FQRILQCTKD NEVEQEDLAQ SLSLVKDVIG AVDSKVASYE KKVRLNEIYT KTDSKSIMRM
KSGQMFAKED LKRKKLVRDG SVFLKNAAGR LKEVQAVLLT DILVFLQEKD QKYIFASLDQ
KSTVISLKKL IVREVAHEEK GLFLISMGMT DPEMVEVHAS SKEERNSWIQ IIQDTINTLN
RDEDEGIPSE NEEEKKMLDT RARELKEQLH QKDQKILLLL EEKEMIFRDM AECSTPLPED
CSPTHSPRVL FRSNTEEALK GGPLMKSAIN EVEILQGLVS GNLGGTLGPT VSSPIEQDVV
GPVSLPRRAE TFGGFDSHQM NASKGGEKEE GDDGQDLRRT ESDSGLKKGG NANLVFMLKR
NSEQVVQSVV HLYELLSALQ GVVLQQDSYI EDQKLVLSER ALTRSLSRPS SLIEQEKQRS
LEKQRQDLAN LQKQQAQYLE EKRRREREWE ARERELRERE ALLAQREEEV QQGQQDLEKE
REELQQKKGT YQYDLERLRA AQKQLEREQE QLRREAERLS QRQTERDLCQ VSHPHTKLMR
IPSFFPSPEE PPSPSAPSIA KSGSLDSELS VSPKRNSISR THKDKGPFHI LSSTSQTNKG
PEGQSQAPAS TSASTRLFGL TKPKEKKEKK KKNKTSRSQP GDGPASEVSA EGEEIFC*

mutated AA sequence

MKLNPQQAPL YGDCVVTVLL AEEDKAEDDV VFYLVFLGST LRHCTSTRKV SSDTLETIAP
GHDCCETVKV QLCASKEGLP VFVVAEEDFH FVQDEAYDAA QFLATSAGNQ QALNFTRFLD
QSGPPSGDVN SLDKKLVLAF RHLKLPTEWN VLGTDQSLHD AGPRETLMHF AVRLGLLRLT
WFLLQKPGGR GALSIHNQEG ATPVSLALER GYHKLHQLLT EENAGEPDSW SSLSYEIPYG
DCSVRHHREL DIYTLTSESD SHHEHPFPGD GCTGPIFKLM NIQQQLMKTN LKQMDSLMPL
MMTAQDPSSA PETDGQFLPC APEPTDPQRL SSSEETESTQ CCPGSPVAQT ESPCDLSSIV
EEENTDRSCR KKNKGVERKG EEVEPAPIVD SGTVSDQDSC LQSLPDCGVK GTEGLSSCGN
RNEETGTKSS GMPTDQESLS SGDAVLQRDL VMEPGTAQYS SGGELGGIST TNVSTPDTAG
EMEHGLMNPD ATVWKNVLQG GESTKERFEN SNIGTAGASD VHVTSKPVDK ISVPNCAPAA
SSLDGNKPAE SSLAFSNEET STEKTAETET SRSREESADA PVDQNSVVIP AAAKDKISDG
LEPYTLLAAG IGEAMSPSDL ALLGLEEDVM PHQNSETNSS HAQSQKGKSS PICSTTGDDK
LCADSACQQN TVTSSGDLVA KLCDNIVSES ESTTARQPSS QDPPDASHCE DPQAHTVTSD
PVRDTQERAD FCPFKVVDNK GQRKDVKLDK PLTNMLEVVS HPHPVVPKME KELVPDQAVI
SDSTFSLANS PGSESVTKDD ALSFVPSQKE KGTATPELHT ATDYRDGPDG NSNEPDTRPL
EDRAVGLSTS STAAELQHGM GNTSLTGLGG EHEGPAPPAI PEALNIKGNT DSSLQSVGKA
TLALDSVLTE EGKLLVVSES SAAQEQDKDK AVTCSSIKEN ALSSGTLQEE QRTPPPGQDT
QQFHEKSISA DCAKDKALQL SNSPGASSAF LKAETEHNKE VAPQVSLLTQ GGAAQSLVPP
GASLATESRQ EALGAEHNSS ALLPCLLPDG SDGSDALNCS QPSPLDVGVK NTQSQGKTSA
CEVSGDVTVD VTGVNALQGM AEPRRENISH NTQDILIPNV LLSQEKNAVL GLPVALQDKA
VTDPQGVGTP EMIPLDWEKG KLEGADHSCT MGDAEEAQID DEAHPVLLQP VAKELPTDME
LSAHDDGAPA GVREVMRAPP SGRERSTPSL PCMVSAQDAP LPKGADLIEE AASRIVDAVI
EQVKAAGALL TEGEACHMSL SSPELGPLTK GLESAFTEKV STFPPGESLP MGSTPEEATG
SLAGCFAGRE EPEKIILPVQ GPEPAAEMPD VKAEDEVDFR ASSISEEVAV GSIAATLKMK
QGPMTQAINR ENWCTIEPCP DAASLLASKQ SPECENFLDV GLGRECTSKQ GVLKRESGSD
SDLFHSPSDD MDSIIFPKPE EEHLACDITG SSSSTDDTAS LDRHSSHGSD VSLSQILKPN
RSRDRQSLDG FYSHGMGAEG RESESEPADP GDVEEEEMDS ITEVPANCSV LRSSMRSLSP
FRRHSWGPGK NAASDAEMNH RSMSWCPSGV QYSAGLSADF NYRSFSLEGL TGGAGVGNKP
SSSLEVSSAN AEELRHPFSG EERVDSLVSL SEEDLESDQR EHRMFDQQIC HRSKQQGFNY
CTSAISSPLT KSISLMTISH PGLDNSRPFH STFHNTSANL TESITEENYN FLPHSPSKKD
SEWKSGTKVS RTFSYIKNKM SSSKKSKEKE KEKDKIKEKE KDSKDKEKDK KTVNGHTFSS
IPVVGPISCS QCMKPFTNKD AYTCANCSAF VHKGCRESLA SCAKVKMKQP KGSLQAHDTS
SLPTVIMRNK PSQPKERPRS AVLLVDETAT TPIFANRRSQ QSVSLSKSVS IQNITGVGND
ENMSNTWKFL SHSTDSLNKI SKVNESTESL TDEGVGTDMN EGQLLGDFEI ESKQLEAESW
SRIIDSKFLK QQKKDVVKRQ EVIYELMQTE FHHVRTLKIM SGVYSQGMMA DLLFEQQMVE
KLFPCLDELI SIHSQFFQRI LERKKESLVD KSEKNFLIKR IGDVLVNQFS GENAERLKKT
YGKFCGQHNQ SVNYFKDLYA KDKRFQAFVK KKMSSSVVRR LGIPECILLV TQRITKYPVL
FQRILQCTKD NEVEQEDLAQ SLSLVKDVIG AVDSKVASYE KKVRLNEIYT KTDSKSIMRM
KSGQMFAKED LKRKKLVRDG SVFLKNAAGR LKEVQAVLLT DILVFLQEKD QKYIFASLDQ
KSTVISLKKL IVREVAHEEK GLFLISMGMT DPEMVEVHAS SKEERNSWIQ IIQDTINTLN
RDEDEGIPSE NEEEKKMLDT RARELKEQLH QKDQKILLLL EEKEMIFRDM AECSTPLPED
CSPTHSPRVL FRSNTEEALK GGPLMKSAIN EVEILQGLVS GNLGGTLGPT VSSPIEQDVV
GPVSLPRRAE TFGGFDSHQM NASKGGEKEE GDDGQDLRRT ESDSGLKKGG NANLVFMLKR
NSEQVVQSVV HLYELLSALQ GVVLQQDSYI EDQKLVLSER ALTRSLSRPS SLIEQEKQRS
LEKQRQDLAN LQKQQAQYLE EKRRREREWE ARERELRERE ALLAQREEEV QQGQQDLEKE
REELQQKKGT YQYDLERLRA AQKQLEREQE QLRREAERLS QRQTERDLCQ VSHPHTKLMR
IPSFFPSPEE PPSPSAPSIA KSGSLDSELS VSPKRNSISR THKDKGPFHI LSSTSQTNKG
PEGQSQAPAS TSASTRLFGL TKPKEKKEKK KKNKTSRSQP GDGPTSEVSA EGEEIFC*

speed

0.56 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems