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 1 transcript(s)...
Querying Taster for transcript #1: ENST00000421673
MT speed 0 s - this script 3.298631 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
MUC6	polymorphism_automatic	2.5409674364596e-12	simple_aae		affected		N1476I	single base exchange	rs7396383		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999997459 (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)

chr11:1018374T>AN/A show variant in all transcripts IGV

HGNC symbol

MUC6

Ensembl transcript ID

ENST00000421673

Genbank transcript ID

NM_005961

UniProt peptide

Q6W4X9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.4427A>T
cDNA.4478A>T
g.18333A>T

AA changes

N1476I Score: 149 explain score(s)

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

1476

frameshift

known variant

Reference ID: rs7396383

database	homozygous (A/A)	heterozygous	allele carriers
1000G	1243	1046	2289
ExAC	-	-	-

regulatory features

Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
Non-Gene Associated, Regulatory Feature, Non-Gene associated regulatory feature
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
H2BK5me1, Histone, Histone 2B Lysine 5 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.86	0.027
	0.558	0.031
(flanking)	0.716	0.032

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 increased	18339	wt: 0.72 / mu: 0.93	wt: CACATCTGCCTCCAACCACTCAGCGCCAACAGGTACCATTC mu: CACATCTGCCTCCATCCACTCAGCGCCAACAGGTACCATTC	actc\|AGCG
Acc marginally increased	18336	wt: 0.2688 / mu: 0.2695 (marginal change - not scored)	wt: GGCCACATCTGCCTCCAACCACTCAGCGCCAACAGGTACCA mu: GGCCACATCTGCCTCCATCCACTCAGCGCCAACAGGTACCA	acca\|CTCA
Acc gained	18340	0.48	mu: ACATCTGCCTCCATCCACTCAGCGCCAACAGGTACCATTCC	ctca\|GCGC
Acc gained	18335	0.76	mu: TGGCCACATCTGCCTCCATCCACTCAGCGCCAACAGGTACC	atcc\|ACTC

distance from splice site

397

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

1476

mutated

not conserved

1476

Ptroglodytes

no homologue

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000048191

1569

SRSLPTVT

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no alignment

FBgn0029167

n/a

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
1241	1664	COMPBIAS	Pro-rich.	lost
1246	2344	COMPBIAS	Thr-rich.	lost
1544	1544	CONFLICT	T -> S (in Ref. 2; AAQ82434).	might get lost (downstream of altered splice site)
1558	1558	CONFLICT	V -> M (in Ref. 2; AAQ82434).	might get lost (downstream of altered splice site)
1561	1738	REPEAT	1; truncated.	might get lost (downstream of altered splice site)
1607	1953	REGION	Approximate repeats.	might get lost (downstream of altered splice site)
1785	1953	REPEAT	2.	might get lost (downstream of altered splice site)
1806	1807	CONFLICT	TT -> SS (in Ref. 5; AAA35866).	might get lost (downstream of altered splice site)
1815	1815	CONFLICT	V -> M (in Ref. 5; AAA35866).	might get lost (downstream of altered splice site)
1833	1833	CONFLICT	H -> E (in Ref. 5; AAA35866).	might get lost (downstream of altered splice site)
1842	1842	CONFLICT	S -> P (in Ref. 5; AAA35866).	might get lost (downstream of altered splice site)
1857	1857	CONFLICT	I -> T (in Ref. 5; AAA35866).	might get lost (downstream of altered splice site)
1861	1861	CONFLICT	T -> A (in Ref. 5; AAA35866).	might get lost (downstream of altered splice site)
1872	1872	CONFLICT	M -> T (in Ref. 5; AAA35866).	might get lost (downstream of altered splice site)
1880	1885	CONFLICT	PTTIKA -> LTTLMN (in Ref. 5; AAA35866).	might get lost (downstream of altered splice site)
1895	1895	CONFLICT	M -> V (in Ref. 5; AAA35866).	might get lost (downstream of altered splice site)
1905	1906	CONFLICT	SP -> AA (in Ref. 5; AAA35866).	might get lost (downstream of altered splice site)
1919	1920	CONFLICT	PY -> HS (in Ref. 5; AAA35866).	might get lost (downstream of altered splice site)
1934	1934	CONFLICT	S -> A (in Ref. 5; AAA35866).	might get lost (downstream of altered splice site)
1937	1951	CONFLICT	NITPKHTSTGTRTPV -> KITTNPTSIGSSTPM (in Ref. 5; AAA35866).	might get lost (downstream of altered splice site)
1940	1940	CONFLICT	P -> F (in Ref. 6; BAC04860).	might get lost (downstream of altered splice site)
1958	1958	CONFLICT	S -> T (in Ref. 5; AAA35866).	might get lost (downstream of altered splice site)
1963	1963	CONFLICT	P -> T (in Ref. 5; AAA35866).	might get lost (downstream of altered splice site)
1972	1972	CONFLICT	P -> S (in Ref. 5; AAA35866).	might get lost (downstream of altered splice site)
2069	2275	COMPBIAS	Ser-rich.	might get lost (downstream of altered splice site)
2091	2091	CONFLICT	S -> SSWS (in Ref. 8; AAC51370).	might get lost (downstream of altered splice site)
2129	2129	CONFLICT	S -> F (in Ref. 6; BAC04860).	might get lost (downstream of altered splice site)
2190	2192	CONFLICT	ASV -> GSG (in Ref. 8; AAC51370).	might get lost (downstream of altered splice site)
2272	2272	CONFLICT	R -> G (in Ref. 8; AAC51370).	might get lost (downstream of altered splice site)
2318	2318	CONFLICT	F -> S (in Ref. 8; AAC51370).	might get lost (downstream of altered splice site)
2349	2349	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2349	2438	DOMAIN	CTCK.	might get lost (downstream of altered splice site)
2363	2363	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2372	2372	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2376	2376	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2396	2396	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2410	2410	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2430	2430	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2432	2432	DISULFID	By similarity.	might get lost (downstream of altered splice site)
2437	2437	DISULFID	By similarity.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

7320 / 7320

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

2440 / 2440

position of stopcodon in wt / mu cDNA

7371 / 7371

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

52 / 52

chromosome

strand

-1

last intron/exon boundary

7194

theoretical NMD boundary in CDS

7092

length of CDS

7320

coding sequence (CDS) position

4427

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

4478

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

18333

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

1018374

original gDNA sequence snippet

GATGGCCACATCTGCCTCCAACCACTCAGCGCCAACAGGTA

altered gDNA sequence snippet

GATGGCCACATCTGCCTCCATCCACTCAGCGCCAACAGGTA

original cDNA sequence snippet

GATGGCCACATCTGCCTCCAACCACTCAGCGCCAACAGGTA

altered cDNA sequence snippet

GATGGCCACATCTGCCTCCATCCACTCAGCGCCAACAGGTA

wildtype AA sequence

MVQRWLLLSC CGALLSAGLA NTSYTSPGLQ RLKDSPQTAP DKGQCSTWGA GHFSTFDHHV
YDFSGTCNYI FAATCKDAFP TFSVQLRRGP DGSISRIIVE LGASVVTVSE AIISVKDIGV
ISLPYTSNGL QITPFGQSVR LVAKQLELEL EVVWGPDSHL MVLVERKYMG QMCGLCGNFD
GKVTNEFVSE EGKFLEPHKF AALQKLDDPG EICTFQDIPS THVRQAQHAR ICTQLLTLVA
PECSVSKEPF VLSCQADVAA APQPGPQNSS CATLSEYSRQ CSMVGQPVRR WRSPGLCSVG
QCPANQVYQE CGSACVKTCS NPQHSCSSSC TFGCFCPEGT VLNDLSNNHT CVPVTQCPCV
LHGAMYAPGE VTIAACQTCR CTLGRWVCTE RPCPGHCSLE GGSFVTTFDA RPYRFHGTCT
YILLQSPQLP EDGALMAVYD KSGVSHSETS LVAVVYLSRQ DKIVISQDEV VTNNGEAKWL
PYKTRNITVF RQTSTHLQMA TSFGLELVVQ LRPIFQAYVT VGPQFRGQTR GLCGNFNGDT
TDDFTTSMGI AEGTASLFVD SWRAGNCPAA LERETDPCSM SQLNKVCAET HCSMLLRTGT
VFERCHATVN PAPFYKRCVY QACNYEETFP HICAALGDYV HACSLRGVLL WGWRSSVDNC
TIPCTGNTTF SYNSQACERT CLSLSDRATE CHHSAVPVDG CNCPDGTYLN QKGECVRKAQ
CPCILEGYKF ILAEQSTVIN GITCHCINGR LSCPQRPQMF LASCQAPKTF KSCSQSSENK
FGAACAPTCQ MLATGVACVP TKCEPGCVCA EGLYENADGQ CVPPEECPCE FSGVSYPGGA
ELHTDCRTCS CSRGRWACQQ GTHCPSTCTL YGEGHVITFD GQRFVFDGNC EYILATDVCG
VNDSQPTFKI LTENVICGNS GVTCSRAIKI FLGGLSVVLA DRNYTVTGEE PHVQLGVTPG
ALSLVVDISI PGRYNLTLIW NRHMTILIRI ARASQDPLCG LCGNFNGNMK DDFETRSRYV
ASSELELVNS WKESPLCGDV SFVTDPCSLN AFRRSWAERK CSVINSQTFA TCHSKVYHLP
YYEACVRDAC GCDSGGDCEC LCDAVAAYAQ ACLDKGVCVD WRTPAFCPIY CGFYNTHTQD
GHGEYQYTQE ANCTWHYQPC LCPSQPQSVP GSNIEGCYNC SQDEYFDHEE GVCVPCMPPT
TPQPPTTPQL PTTGSRPTQV WPMTGTSTTI GLLSSTGPSP SSNHTPASPT QTPLLPATLT
SSKPTASSGE PPRPTTAVTP QATSGLPPTA TLRSTATKPT VTQATTRATA STASPATTST
AQSTTRTTMT LPTPATSGTS PTLPKSTNQE LPGTTATQTT GPRPTPASTT GPTTPQPGQP
TRPTATETTQ TRTTTEYTTP QTPHTTHSPP TAGSPVPSTG PVTATSFHAT TTYPTPSHPE
TTLPTHVPPF STSLVTPSTH TVITPTHAQM ATSASNHSAP TGTIPPPTTL KATGSTHTAP
PITPTTSGTS QAHSSFSTNK TPTSLHSHTS STHHPEVTPT STTTITPNPT STRTRTPVAH
TNSATSSRPP PPFTTHSPPT GSSPFSSTGP MTATSFKTTT TYPTPSHPQT TLPTHVPPFS
TSLVTPSTHT VITPTHAQMA TSASIHSMPT GTIPPPTTLK ATGSTHTAPT MTLTTSGTSQ
ALSSLNTAKT STSLHSHTSS THHAEATSTS TTNITPNPTS TGTPPMTVTT SGTSQSRSSF
STAKTSTSLH SHTSSTHHPE VTSTSTTSIT PNHTSTGTRT PVAHTTSATS SRLPTPFTTH
SPPTGTTPIS STGPVTATSF QTTTTYPTPS HPHTTLPTHV PSFSTSLVTP STHTVIIPTH
TQMATSASIH SMPTGTIPPP TTIKATGSTH TAPPMTPTTS GTSQSPSSFS TAKTSTSLPY
HTSSTHHPEV TPTSTTNITP KHTSTGTRTP VAHTTSASSS RLPTPFTTHS PPTGSSPFSS
TGPMTATSFQ TTTTYPTPSH PQTTLPTHVP PFSTSLVTPS THTVIITTHT QMATSASIHS
TPTGTVPPPT TLKATGSTHT APPMTVTTSG TSQTHSSFST ATASSSFISS SSWLPQNSSS
RPPSSPITTQ LPHLSSATTP VSTTNQLSSS FSPSPSAPST VSSYVPSSHS SPQTSSPSVG
TSSSFVSAPV HSTTLSSGSH SSLSTHPTTA SVSASPLFPS SPAASTTIRA TLPHTISSPF
TLSALLPIST VTVSPTPSSH LASSTIAFPS TPRTTASTHT APAFSSQSTT SRSTSLTTRV
PTSGFVSLTS GVTGIPTSPV TNLTTRHPGP TLSPTTRFLT SSLTAHGSTP ASAPVSSLGT
PTPTSPGVCS VREQQEEITF KGCMANVTVT RCEGACISAA SFNIITQQVD ARCSCCRPLH
SYEQQLELPC PDPSTPGRRL VLTLQVFSHC VCSSVACGD*

mutated AA sequence

MVQRWLLLSC CGALLSAGLA NTSYTSPGLQ RLKDSPQTAP DKGQCSTWGA GHFSTFDHHV
YDFSGTCNYI FAATCKDAFP TFSVQLRRGP DGSISRIIVE LGASVVTVSE AIISVKDIGV
ISLPYTSNGL QITPFGQSVR LVAKQLELEL EVVWGPDSHL MVLVERKYMG QMCGLCGNFD
GKVTNEFVSE EGKFLEPHKF AALQKLDDPG EICTFQDIPS THVRQAQHAR ICTQLLTLVA
PECSVSKEPF VLSCQADVAA APQPGPQNSS CATLSEYSRQ CSMVGQPVRR WRSPGLCSVG
QCPANQVYQE CGSACVKTCS NPQHSCSSSC TFGCFCPEGT VLNDLSNNHT CVPVTQCPCV
LHGAMYAPGE VTIAACQTCR CTLGRWVCTE RPCPGHCSLE GGSFVTTFDA RPYRFHGTCT
YILLQSPQLP EDGALMAVYD KSGVSHSETS LVAVVYLSRQ DKIVISQDEV VTNNGEAKWL
PYKTRNITVF RQTSTHLQMA TSFGLELVVQ LRPIFQAYVT VGPQFRGQTR GLCGNFNGDT
TDDFTTSMGI AEGTASLFVD SWRAGNCPAA LERETDPCSM SQLNKVCAET HCSMLLRTGT
VFERCHATVN PAPFYKRCVY QACNYEETFP HICAALGDYV HACSLRGVLL WGWRSSVDNC
TIPCTGNTTF SYNSQACERT CLSLSDRATE CHHSAVPVDG CNCPDGTYLN QKGECVRKAQ
CPCILEGYKF ILAEQSTVIN GITCHCINGR LSCPQRPQMF LASCQAPKTF KSCSQSSENK
FGAACAPTCQ MLATGVACVP TKCEPGCVCA EGLYENADGQ CVPPEECPCE FSGVSYPGGA
ELHTDCRTCS CSRGRWACQQ GTHCPSTCTL YGEGHVITFD GQRFVFDGNC EYILATDVCG
VNDSQPTFKI LTENVICGNS GVTCSRAIKI FLGGLSVVLA DRNYTVTGEE PHVQLGVTPG
ALSLVVDISI PGRYNLTLIW NRHMTILIRI ARASQDPLCG LCGNFNGNMK DDFETRSRYV
ASSELELVNS WKESPLCGDV SFVTDPCSLN AFRRSWAERK CSVINSQTFA TCHSKVYHLP
YYEACVRDAC GCDSGGDCEC LCDAVAAYAQ ACLDKGVCVD WRTPAFCPIY CGFYNTHTQD
GHGEYQYTQE ANCTWHYQPC LCPSQPQSVP GSNIEGCYNC SQDEYFDHEE GVCVPCMPPT
TPQPPTTPQL PTTGSRPTQV WPMTGTSTTI GLLSSTGPSP SSNHTPASPT QTPLLPATLT
SSKPTASSGE PPRPTTAVTP QATSGLPPTA TLRSTATKPT VTQATTRATA STASPATTST
AQSTTRTTMT LPTPATSGTS PTLPKSTNQE LPGTTATQTT GPRPTPASTT GPTTPQPGQP
TRPTATETTQ TRTTTEYTTP QTPHTTHSPP TAGSPVPSTG PVTATSFHAT TTYPTPSHPE
TTLPTHVPPF STSLVTPSTH TVITPTHAQM ATSASIHSAP TGTIPPPTTL KATGSTHTAP
PITPTTSGTS QAHSSFSTNK TPTSLHSHTS STHHPEVTPT STTTITPNPT STRTRTPVAH
TNSATSSRPP PPFTTHSPPT GSSPFSSTGP MTATSFKTTT TYPTPSHPQT TLPTHVPPFS
TSLVTPSTHT VITPTHAQMA TSASIHSMPT GTIPPPTTLK ATGSTHTAPT MTLTTSGTSQ
ALSSLNTAKT STSLHSHTSS THHAEATSTS TTNITPNPTS TGTPPMTVTT SGTSQSRSSF
STAKTSTSLH SHTSSTHHPE VTSTSTTSIT PNHTSTGTRT PVAHTTSATS SRLPTPFTTH
SPPTGTTPIS STGPVTATSF QTTTTYPTPS HPHTTLPTHV PSFSTSLVTP STHTVIIPTH
TQMATSASIH SMPTGTIPPP TTIKATGSTH TAPPMTPTTS GTSQSPSSFS TAKTSTSLPY
HTSSTHHPEV TPTSTTNITP KHTSTGTRTP VAHTTSASSS RLPTPFTTHS PPTGSSPFSS
TGPMTATSFQ TTTTYPTPSH PQTTLPTHVP PFSTSLVTPS THTVIITTHT QMATSASIHS
TPTGTVPPPT TLKATGSTHT APPMTVTTSG TSQTHSSFST ATASSSFISS SSWLPQNSSS
RPPSSPITTQ LPHLSSATTP VSTTNQLSSS FSPSPSAPST VSSYVPSSHS SPQTSSPSVG
TSSSFVSAPV HSTTLSSGSH SSLSTHPTTA SVSASPLFPS SPAASTTIRA TLPHTISSPF
TLSALLPIST VTVSPTPSSH LASSTIAFPS TPRTTASTHT APAFSSQSTT SRSTSLTTRV
PTSGFVSLTS GVTGIPTSPV TNLTTRHPGP TLSPTTRFLT SSLTAHGSTP ASAPVSSLGT
PTPTSPGVCS VREQQEEITF KGCMANVTVT RCEGACISAA SFNIITQQVD ARCSCCRPLH
SYEQQLELPC PDPSTPGRRL VLTLQVFSHC VCSSVACGD*

speed

1.19 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

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

Problems