Yum, tasty mutations...

MutationTaster - study a chromosomal position

MTQE documentation
NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 4 transcript(s)...
Querying Taster for transcript #1: ENST00000349607
Querying Taster for transcript #2: ENST00000346145
Querying Taster for transcript #3: ENST00000463781
Querying Taster for transcript #4: ENST00000475231
MT speed 0 s - this script 7.20035 s

Results


genesymbolpredictionprobabilitymodelprediction
problem
splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
MUC4polymorphism_automatic4.88054041625219e-13simple_aaeaffectedG4324Dsingle base exchangers2259292show file
MUC4polymorphism_automatic4.88054041625219e-13simple_aaeaffectedG37Dsingle base exchangers2259292show file
MUC4polymorphism_automatic4.88054041625219e-13simple_aaeaffectedG4324Dsingle base exchangers2259292show file
MUC4polymorphism_automatic4.88054041625219e-13simple_aaeaffectedG88Dsingle base exchangers2259292show file

Taster files

Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999512 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:195501149C>TN/A show variant in all transcripts   IGV
HGNC symbol MUC4
Ensembl transcript ID ENST00000463781
Genbank transcript ID NM_018406
UniProt peptide Q99102
alteration type single base exchange
alteration region CDS
DNA changes c.12971G>A
cDNA.13431G>A
g.38000G>A
AA changes G4324D Score: 94 explain score(s)
position(s) of altered AA
if AA alteration in CDS
4324
frameshift no
known variant Reference ID: rs2259292
databasehomozygous (T/T)heterozygousallele carriers
1000G89811402038
ExAC19889-701112878
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.1620
-0.4710
(flanking)-0.2520
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased37990wt: 0.9900 / mu: 0.9901 (marginal change - not scored)wt: CAGGAGTTTCCCTCTTCCCCTATGGGGCAGGCGCCGGGGAC
mu: CAGGAGTTTCCCTCTTCCCCTATGGGGCAGACGCCGGGGAC
 ccct|ATGG
Acc marginally increased37994wt: 0.9960 / mu: 0.9960 (marginal change - not scored)wt: AGTTTCCCTCTTCCCCTATGGGGCAGGCGCCGGGGACCTGG
mu: AGTTTCCCTCTTCCCCTATGGGGCAGACGCCGGGGACCTGG
 atgg|GGCA
Acc marginally increased37991wt: 0.7095 / mu: 0.7214 (marginal change - not scored)wt: AGGAGTTTCCCTCTTCCCCTATGGGGCAGGCGCCGGGGACC
mu: AGGAGTTTCCCTCTTCCCCTATGGGGCAGACGCCGGGGACC
 ccta|TGGG
Donor increased38001wt: 0.40 / mu: 0.56wt: GCAGGCGCCGGGGAC
mu: GCAGACGCCGGGGAC
 AGGC|gccg
distance from splice site 28
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      4324ERGVSLFPYGAGAGDLEFVRRTVD
mutated  not conserved    4324YGADAGDLEFVRRTV
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000079620  2385SEVGDQNLFARTV
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no alignment  FBgn0051004  n/a
Celegans  no alignment  K03H1.5  n/a
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 16239 / 16239
position (AA) of stopcodon in wt / mu AA sequence 5413 / 5413
position of stopcodon in wt / mu cDNA 16699 / 16699
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 461 / 461
chromosome 3
strand -1
last intron/exon boundary 16495
theoretical NMD boundary in CDS 15984
length of CDS 16239
coding sequence (CDS) position 12971
cDNA position
(for ins/del: last normal base / first normal base)
13431
gDNA position
(for ins/del: last normal base / first normal base)
38000
chromosomal position
(for ins/del: last normal base / first normal base)
195501149
original gDNA sequence snippet CCTCTTCCCCTATGGGGCAGGCGCCGGGGACCTGGAGTTCG
altered gDNA sequence snippet CCTCTTCCCCTATGGGGCAGACGCCGGGGACCTGGAGTTCG
original cDNA sequence snippet CCTCTTCCCCTATGGGGCAGGCGCCGGGGACCTGGAGTTCG
altered cDNA sequence snippet CCTCTTCCCCTATGGGGCAGACGCCGGGGACCTGGAGTTCG
wildtype AA sequence MKGARWRRVP WVSLSCLCLC LLPHVVPGTT EDTLITGSKT AAPVTSTGST TATLEGQSTA
ASSRTSNQDI SASSQNHQTK STETTSKAQT DTLTQMMTST LFSSPSVHNV METAPPDEMT
TSFPSSVTNT LMMTSKTITM TTSTDSTLGN TEETSTAGTE SSTPVTSAVS ITAGQEGQSR
TTSWRTSIQD TSASSQNHWT RSTQTTRESQ TSTLTHRTTS TPSFSPSVHN VTGTVSQKTS
PSGETATSSL CSVTNTSMMT SEKITVTTST GSTLGNPGET SSVPVTGSLM PVTSAALVTF
DPEGQSPATF SRTSTQDTTA FSKNHQTQSV ETTRVSQINT LNTLTPVTTS TVLSSPSGFN
PSGTVSQETF PSGETTTSSP SSVSNTFLVT SKVFRMPTSR DSTLGNTEET SLSVSGTISA
ITSKVSTIWW SDTLSTALSP SSLPPKISTA FHTQQSEGAE TTGRPHERSS FSPGVSQEIF
TLHETTTWPS SFSSKGHTTW SQTELPSTST GAATRLVTGN PSTGTAGTIP RVPSKVSAIG
EPGEPTTYSS HSTTLPKTTG AGAQTQWTQE TGTTGEALLS SPSYSVTQMI KTATSPSSSP
MLDRHTSQQI TTAPSTNHST IHSTSTSPQE SPAVSQRGHT QAPQTTQESQ TTRSVSPMTD
TKTVTTPGSS FTASGHSPSE IVPQDAPTIS AATTFAPAPT GDGHTTQAPT TALQAAPSSH
DATLGPSGGT SLSKTGALTL ANSVVSTPGG PEGQWTSASA STSPDTAAAM THTHQAESTE
ASGQTQTSEP ASSGSRTTSA GTATPSSSGA SGTTPSGSEG ISTSGETTRF SSNPSRDSHT
TQSTTELLSA SASHGAIPVS TGMASSIVPG TFHPTLSEAS TAGRPTGQSS PTSPSASPQE
TAAISRMAQT QRTRTSRGSD TISLASQATD TFSTVPPTPP SITSTGLTSP QTETHTLSPS
GSGKTFTTAL ISNATPLPVT YASSASTGHT TPLHVTDASS VSTGHATPLP VTSPSSVSTG
HTTPLPVTDT SSESTGHVTP LPVTSFSSAS TGDSTPLPVT DTSSASTGHV TPLPVTSLSS
ASTGDTTPLP VTDTSSASTG HATSLPVTDT SSVSTGHTTP LPVTDTSSAS TGHATSLPVT
DTSSVSTGHT TPLHVTDASS ASTGQATPLP VTSLSSVSTG DTTPLPVTSP SSASTGHATP
LLVTDTSSAS TGHATPLPVT DASSVSTDHA TSLPVTIPSA ASTGHTTPLP VTDTSSASTG
QATSLLVTDT SSVSTGDTTP LPVTSTSSAS TGHVTPLHVT SPSSASTGHA TPLPVTSLSS
ASTGDTMPLP VTSPSSASTG DTTPLPVTDA SSVSTGHTTP LHVTDASSAS TGQATPLPVT
SLSSVSTGDT TPLPVTSPSS ASTGHATPLL VTDTSSASTG HATPLPVTDA SSVSTDHATS
LPVTIPSAAS TGHTTPLPVT DTSSASTGQA TSLLVTDTSS VSTGDTTPLP VTSTSSASTG
HVTPLHVTSP SSASTGHATP LPVTSLSSAS TGDTMPLPVT SPSSASTGDT TPLPVTDASS
VSTGHTTPLP VTSPSSASTG HTTPLPVTDT SSASKGDTTP LPVTSPSSAS TGHTTPLPVT
DTSSASTGDT TPLPVTNASS LSTGHATPLH VTSPSSASTG HATPLPVTST SSASTGHATP
LPVTGLSSAT TDDTTRLPVT DVSSASTGQA TPLPVTSLSS VSTGDTTPLP VTSPSSASTG
HASPLLVTDA SSASTGQATP LPVTDTSSVS TAHATPLPVT GLSSASTDDT TRLPVTDVSS
ASTGQAIPLP VTSPSSASTG DTTPLPVTDA SSASTGDTTS LPVTIPSSAS SGHTTSLPVT
DASSVSTGHA TSLLVTDASS VSTGDTTPLP VTDTNSASTG DTTPLHVTDA SSVSTGHATS
LPVTSLSSAS TGDTTPLPVT SPSSASSGHT TPLPVTDASS VPTGHATSLP VTDASSVSTG
HATPLPVTDA SSVSTGHATP LPVTDTSSVS TGQATPLPVT SLSSASTGDT TPLPVTDTSS
ASTGQDTPLP VTSLSSVSTG DTTPLPVTNP SSASTGHATP LLVTDASSIS TGHATSLLVT
DASSVSTGHA TALHDTDASS LSTGDTTPLP VTSPSSTSTG DTTPLPVTET SSVSTGHATS
LPVTDTSSAS TGHATSLPVT DTSSASTGHA TPLPVTDTSS ASTGQATPLP VTSPSSASTG
HAIPLLVTDT SSASTGQATP LPVTSLSSAS TGDTTPLPVT DASSVSTGHA TSLPVTSLSS
VSTGDTTPLP VTSPSSASTG HATPLHVTDA SSASTGHATP LPVTSLSSAS TGDTTPLPVT
SPSSASTGHA TPLHVTDASS VSTGDTTPLP VTSSSSASSG HTTPLPVTDA SSASTGDTTP
LPVTDTSSAS TGHATHLPVT GLSSASTGDT TRLPVTNVSS ASTGHATPLP VTSTSSASTG
DTTPLPGTDT SSVSTGHTTP LLVTDASSVS TGDTTRLPVT SPSSASTGHT TPLPVTDTPS
ASTGDTTPLP VTNASSLSTR HATSLHVTSP SSASTGHATS LPVTDTSAAS TGHATPLPVT
STSSASTGDT TPLPVTDTYS ASTGQATPLP VTSLSSVSTG DTTPLPVTSP SSASTGHATP
LLVTDASSAS TGQATPLPVT SLSSVSTGDT TPLPVTSPSS ASTGHATSLP VTDTSSASTG
DTTSLPVTDT SSAYTGDTTS LPVTDTSSSS TGDTTPLLVT ETSSVSTGDT TPLPVTDTSS
ASTGHATPLP VTNTSSVSTG HATPLHVTSP SSASTGHTTP LPVTDASSVS TGHATSLPVT
DASSVFTGHA TSLPVTIPSS ASSGHTTPLP VTDASSVSTG HATSLPVTDA SSVSTGHATP
LPVTDASSVS TGHATPLPLT SLSSVSTGDT TPLPVTDTSS ASTGQATPLP VTSLSSVSTG
DTTPLPVTDT SSASTGHATS LPVTDTSSAS TGHATPLPDT DTSSASTGHA TLLPVTDTSS
ASIGHATSLP VTDTSSISTG HATPLHVTSP SSASTGHATP LPVTDTSSAS TGHANPLHVT
SPSSASTGHA TPLPVTDTSS ASTGHATPLP VTSLSSVSTG DTTPLPVTSP SSASTGHTTP
LPVTDTSSAS TGQATALPVT STSSASTGDT TPLPVTDTSS ASTGQATPLP VTSLSSVSTG
DTTPLPVTSP SSASTGHATP LLVTDASSAS TGQATPLPVT SLSSVSTGDT TPLPVTSPSS
ASTGHATSLP VTDTSSASTG DTTSLPVTDT SSAYTGDTTS LPVTDTSSSS TGDTTPLLVT
ETSSVSTGHA TPLLVTDASS ASTGHATPLH VTSPSSASTG DTTPVPVTDT SSVSTGHATP
LPVTGLSSAS TGDTTRLPVT DISSASTGQA TPLPVTNTSS VSTGDTMPLP VTSPSSASTG
HATPLPVTST SSASTGHATP VPVTSTSSAS TGHTTPLPVT DTSSASTGDT TPLPVTSPSS
ASTGHTTPLH VTIPSSASTG DTSTLPVTGA SSASTGHATP LPVTDTSSVS TGHATPLPVT
SLSSVSTGDT TPLPVTDASS ASTGQATPLP VTSLSSVSTG DTTPLLVTDA SSVSTGHATP
LPVTDTSSAS TGDTTRLPVT DTSSASTGQA TPLPVTSLSS VSTGDTTPLL VTDASSVSTG
HATPLPVTDT SSASTGDTTR LPVTDTSSAS TGQATPLPVT IPSSSSSGHT TPLPVTSTSS
VSTGHVTPLH VTSPSSASTG HVTPLPVTST SSASTGHATP LLVTDASSVS TGHATPLPVT
DASSASTGDT TPLPVTDTSS ASTGQATPLP VTSLSSVSTG DTTPLPVTDA SSASTGHATP
LPVTIPSSVS TGDTMPLPVT SPSSASTGHA TPLPVTGLSS ASTGDTTPLP VTDTSSASTR
HATPLPVTDT SSASTDDTTR LPVTDVSSAS TGHATPLPVT STSSASTGDT TPLPVTDTSS
VSTGHATSLP VTSRSSASTG HATPLPVTDT SSVSTGHATP LPVTSTSSVS TGHATPLPVT
SPSSASTGHA TPVPVTSTSS ASTGDTTPLP VTNASSLSTG HATPLHVTSP SSASRGDTST
LPVTDASSAS TGHATPLPLT SLSSVSTGDT TPLPVTDTSS ASTGQATPLP VTSLSSVSTG
DTTPLPVTIP SSASSGHTTS LPVTDASSVS TGHGTPLPVT STSSASTGDT TPLPVTDTSS
ASTGHATPLP VTDTSSASTG HATPLPVTSL SSVSTGHATP LAVSSATSAS TVSSDSPLKM
ETPGMTTPSL KTDGGRRTAT SPPPTTSQTI ISTIPSTAMH TRSTAAPIPI LPERGVSLFP
YGAGAGDLEF VRRTVDFTSP LFKPATGFPL GSSLRDSLYF TDNGQIIFPE SDYQIFSYPN
PLPTGFTGRD PVALVAPFWD DADFSTGRGT TFYQEYETFY GEHSLLVQQA ESWIRKMTNN
GGYKARWALK VTWVNAHAYP AQWTLGSNTY QAILSTDGSR SYALFLYQSG GMQWDVAQRS
GNPVLMGFSS GDGYFENSPL MSQPVWERYR PDRFLNSNSG LQGLQFYRLH REERPNYRLE
CLQWLKSQPR WPSWGWNQVS CPCSWQQGRR DLRFQPVSIG RWGLGSRQLC SFTSWRGGVC
CSYGPWGEFR EGWHVQRPWQ LAQELEPQSW CCRWNDKPYL CALYQQRRPH VGCATYRPPQ
PAWMFGDPHI TTLDGVSYTF NGLGDFLLVG AQDGNSSFLL QGRTAQTGSA QATNFIAFAA
QYRSSSLGPV TVQWLLEPHD AIRVLLDNQT VTFQPDHEDG GGQETFNATG VLLSRNGSEV
SASFDGWATV SVIALSNILH ASASLPPEYQ NRTEGLLGVW NNNPEDDFRM PNGSTIPPGS
PEEMLFHFGM TWQINGTGLL GKRNDQLPSN FTPVFYSQLQ KNSSWAEHLI SNCDGDSSCI
YDTLALRNAS IGLHTREVSK NYEQANATLN QYPPSINGGR VIEAYKGQTT LIQYTSNAED
ANFTLRDSCT DLELFENGTL LWTPKSLEPF TLEILARSAK IGLASALQPR TVVCHCNAES
QCLYNQTSRV GNSSLEVAGC KCDGGTFGRY CEGSEDACEE PCFPSVHCVP GKGCEACPPN
LTGDGRHCAA LGSSFLCQNQ SCPVNYCYNQ GHCYISQTLG CQPMCTCPPA FTDSRCFLAG
NNFSPTVNLE LPLRVIQLLL SEEENASMAE VNASVAYRLG TLDMRAFLRN SQVERIDSAA
PASGSPIQHW MVISEFQYRP RGPVIDFLNN QLLAAVVEAF LYHVPRRSEE PRNDVVFQPI
SGEDVRDVTA LNVSTLKAYF RCDGYKGYDL VYSPQSGFTC VSPCSRGYCD HGGQCQHLPS
GPRCSCVSFS IYTAWGEHCE HLSMKLDAFF GIFFGALGGL LLLGVGTFVV LRFWGCSGAR
FSYFLNSAEA LP*
mutated AA sequence MKGARWRRVP WVSLSCLCLC LLPHVVPGTT EDTLITGSKT AAPVTSTGST TATLEGQSTA
ASSRTSNQDI SASSQNHQTK STETTSKAQT DTLTQMMTST LFSSPSVHNV METAPPDEMT
TSFPSSVTNT LMMTSKTITM TTSTDSTLGN TEETSTAGTE SSTPVTSAVS ITAGQEGQSR
TTSWRTSIQD TSASSQNHWT RSTQTTRESQ TSTLTHRTTS TPSFSPSVHN VTGTVSQKTS
PSGETATSSL CSVTNTSMMT SEKITVTTST GSTLGNPGET SSVPVTGSLM PVTSAALVTF
DPEGQSPATF SRTSTQDTTA FSKNHQTQSV ETTRVSQINT LNTLTPVTTS TVLSSPSGFN
PSGTVSQETF PSGETTTSSP SSVSNTFLVT SKVFRMPTSR DSTLGNTEET SLSVSGTISA
ITSKVSTIWW SDTLSTALSP SSLPPKISTA FHTQQSEGAE TTGRPHERSS FSPGVSQEIF
TLHETTTWPS SFSSKGHTTW SQTELPSTST GAATRLVTGN PSTGTAGTIP RVPSKVSAIG
EPGEPTTYSS HSTTLPKTTG AGAQTQWTQE TGTTGEALLS SPSYSVTQMI KTATSPSSSP
MLDRHTSQQI TTAPSTNHST IHSTSTSPQE SPAVSQRGHT QAPQTTQESQ TTRSVSPMTD
TKTVTTPGSS FTASGHSPSE IVPQDAPTIS AATTFAPAPT GDGHTTQAPT TALQAAPSSH
DATLGPSGGT SLSKTGALTL ANSVVSTPGG PEGQWTSASA STSPDTAAAM THTHQAESTE
ASGQTQTSEP ASSGSRTTSA GTATPSSSGA SGTTPSGSEG ISTSGETTRF SSNPSRDSHT
TQSTTELLSA SASHGAIPVS TGMASSIVPG TFHPTLSEAS TAGRPTGQSS PTSPSASPQE
TAAISRMAQT QRTRTSRGSD TISLASQATD TFSTVPPTPP SITSTGLTSP QTETHTLSPS
GSGKTFTTAL ISNATPLPVT YASSASTGHT TPLHVTDASS VSTGHATPLP VTSPSSVSTG
HTTPLPVTDT SSESTGHVTP LPVTSFSSAS TGDSTPLPVT DTSSASTGHV TPLPVTSLSS
ASTGDTTPLP VTDTSSASTG HATSLPVTDT SSVSTGHTTP LPVTDTSSAS TGHATSLPVT
DTSSVSTGHT TPLHVTDASS ASTGQATPLP VTSLSSVSTG DTTPLPVTSP SSASTGHATP
LLVTDTSSAS TGHATPLPVT DASSVSTDHA TSLPVTIPSA ASTGHTTPLP VTDTSSASTG
QATSLLVTDT SSVSTGDTTP LPVTSTSSAS TGHVTPLHVT SPSSASTGHA TPLPVTSLSS
ASTGDTMPLP VTSPSSASTG DTTPLPVTDA SSVSTGHTTP LHVTDASSAS TGQATPLPVT
SLSSVSTGDT TPLPVTSPSS ASTGHATPLL VTDTSSASTG HATPLPVTDA SSVSTDHATS
LPVTIPSAAS TGHTTPLPVT DTSSASTGQA TSLLVTDTSS VSTGDTTPLP VTSTSSASTG
HVTPLHVTSP SSASTGHATP LPVTSLSSAS TGDTMPLPVT SPSSASTGDT TPLPVTDASS
VSTGHTTPLP VTSPSSASTG HTTPLPVTDT SSASKGDTTP LPVTSPSSAS TGHTTPLPVT
DTSSASTGDT TPLPVTNASS LSTGHATPLH VTSPSSASTG HATPLPVTST SSASTGHATP
LPVTGLSSAT TDDTTRLPVT DVSSASTGQA TPLPVTSLSS VSTGDTTPLP VTSPSSASTG
HASPLLVTDA SSASTGQATP LPVTDTSSVS TAHATPLPVT GLSSASTDDT TRLPVTDVSS
ASTGQAIPLP VTSPSSASTG DTTPLPVTDA SSASTGDTTS LPVTIPSSAS SGHTTSLPVT
DASSVSTGHA TSLLVTDASS VSTGDTTPLP VTDTNSASTG DTTPLHVTDA SSVSTGHATS
LPVTSLSSAS TGDTTPLPVT SPSSASSGHT TPLPVTDASS VPTGHATSLP VTDASSVSTG
HATPLPVTDA SSVSTGHATP LPVTDTSSVS TGQATPLPVT SLSSASTGDT TPLPVTDTSS
ASTGQDTPLP VTSLSSVSTG DTTPLPVTNP SSASTGHATP LLVTDASSIS TGHATSLLVT
DASSVSTGHA TALHDTDASS LSTGDTTPLP VTSPSSTSTG DTTPLPVTET SSVSTGHATS
LPVTDTSSAS TGHATSLPVT DTSSASTGHA TPLPVTDTSS ASTGQATPLP VTSPSSASTG
HAIPLLVTDT SSASTGQATP LPVTSLSSAS TGDTTPLPVT DASSVSTGHA TSLPVTSLSS
VSTGDTTPLP VTSPSSASTG HATPLHVTDA SSASTGHATP LPVTSLSSAS TGDTTPLPVT
SPSSASTGHA TPLHVTDASS VSTGDTTPLP VTSSSSASSG HTTPLPVTDA SSASTGDTTP
LPVTDTSSAS TGHATHLPVT GLSSASTGDT TRLPVTNVSS ASTGHATPLP VTSTSSASTG
DTTPLPGTDT SSVSTGHTTP LLVTDASSVS TGDTTRLPVT SPSSASTGHT TPLPVTDTPS
ASTGDTTPLP VTNASSLSTR HATSLHVTSP SSASTGHATS LPVTDTSAAS TGHATPLPVT
STSSASTGDT TPLPVTDTYS ASTGQATPLP VTSLSSVSTG DTTPLPVTSP SSASTGHATP
LLVTDASSAS TGQATPLPVT SLSSVSTGDT TPLPVTSPSS ASTGHATSLP VTDTSSASTG
DTTSLPVTDT SSAYTGDTTS LPVTDTSSSS TGDTTPLLVT ETSSVSTGDT TPLPVTDTSS
ASTGHATPLP VTNTSSVSTG HATPLHVTSP SSASTGHTTP LPVTDASSVS TGHATSLPVT
DASSVFTGHA TSLPVTIPSS ASSGHTTPLP VTDASSVSTG HATSLPVTDA SSVSTGHATP
LPVTDASSVS TGHATPLPLT SLSSVSTGDT TPLPVTDTSS ASTGQATPLP VTSLSSVSTG
DTTPLPVTDT SSASTGHATS LPVTDTSSAS TGHATPLPDT DTSSASTGHA TLLPVTDTSS
ASIGHATSLP VTDTSSISTG HATPLHVTSP SSASTGHATP LPVTDTSSAS TGHANPLHVT
SPSSASTGHA TPLPVTDTSS ASTGHATPLP VTSLSSVSTG DTTPLPVTSP SSASTGHTTP
LPVTDTSSAS TGQATALPVT STSSASTGDT TPLPVTDTSS ASTGQATPLP VTSLSSVSTG
DTTPLPVTSP SSASTGHATP LLVTDASSAS TGQATPLPVT SLSSVSTGDT TPLPVTSPSS
ASTGHATSLP VTDTSSASTG DTTSLPVTDT SSAYTGDTTS LPVTDTSSSS TGDTTPLLVT
ETSSVSTGHA TPLLVTDASS ASTGHATPLH VTSPSSASTG DTTPVPVTDT SSVSTGHATP
LPVTGLSSAS TGDTTRLPVT DISSASTGQA TPLPVTNTSS VSTGDTMPLP VTSPSSASTG
HATPLPVTST SSASTGHATP VPVTSTSSAS TGHTTPLPVT DTSSASTGDT TPLPVTSPSS
ASTGHTTPLH VTIPSSASTG DTSTLPVTGA SSASTGHATP LPVTDTSSVS TGHATPLPVT
SLSSVSTGDT TPLPVTDASS ASTGQATPLP VTSLSSVSTG DTTPLLVTDA SSVSTGHATP
LPVTDTSSAS TGDTTRLPVT DTSSASTGQA TPLPVTSLSS VSTGDTTPLL VTDASSVSTG
HATPLPVTDT SSASTGDTTR LPVTDTSSAS TGQATPLPVT IPSSSSSGHT TPLPVTSTSS
VSTGHVTPLH VTSPSSASTG HVTPLPVTST SSASTGHATP LLVTDASSVS TGHATPLPVT
DASSASTGDT TPLPVTDTSS ASTGQATPLP VTSLSSVSTG DTTPLPVTDA SSASTGHATP
LPVTIPSSVS TGDTMPLPVT SPSSASTGHA TPLPVTGLSS ASTGDTTPLP VTDTSSASTR
HATPLPVTDT SSASTDDTTR LPVTDVSSAS TGHATPLPVT STSSASTGDT TPLPVTDTSS
VSTGHATSLP VTSRSSASTG HATPLPVTDT SSVSTGHATP LPVTSTSSVS TGHATPLPVT
SPSSASTGHA TPVPVTSTSS ASTGDTTPLP VTNASSLSTG HATPLHVTSP SSASRGDTST
LPVTDASSAS TGHATPLPLT SLSSVSTGDT TPLPVTDTSS ASTGQATPLP VTSLSSVSTG
DTTPLPVTIP SSASSGHTTS LPVTDASSVS TGHGTPLPVT STSSASTGDT TPLPVTDTSS
ASTGHATPLP VTDTSSASTG HATPLPVTSL SSVSTGHATP LAVSSATSAS TVSSDSPLKM
ETPGMTTPSL KTDGGRRTAT SPPPTTSQTI ISTIPSTAMH TRSTAAPIPI LPERGVSLFP
YGADAGDLEF VRRTVDFTSP LFKPATGFPL GSSLRDSLYF TDNGQIIFPE SDYQIFSYPN
PLPTGFTGRD PVALVAPFWD DADFSTGRGT TFYQEYETFY GEHSLLVQQA ESWIRKMTNN
GGYKARWALK VTWVNAHAYP AQWTLGSNTY QAILSTDGSR SYALFLYQSG GMQWDVAQRS
GNPVLMGFSS GDGYFENSPL MSQPVWERYR PDRFLNSNSG LQGLQFYRLH REERPNYRLE
CLQWLKSQPR WPSWGWNQVS CPCSWQQGRR DLRFQPVSIG RWGLGSRQLC SFTSWRGGVC
CSYGPWGEFR EGWHVQRPWQ LAQELEPQSW CCRWNDKPYL CALYQQRRPH VGCATYRPPQ
PAWMFGDPHI TTLDGVSYTF NGLGDFLLVG AQDGNSSFLL QGRTAQTGSA QATNFIAFAA
QYRSSSLGPV TVQWLLEPHD AIRVLLDNQT VTFQPDHEDG GGQETFNATG VLLSRNGSEV
SASFDGWATV SVIALSNILH ASASLPPEYQ NRTEGLLGVW NNNPEDDFRM PNGSTIPPGS
PEEMLFHFGM TWQINGTGLL GKRNDQLPSN FTPVFYSQLQ KNSSWAEHLI SNCDGDSSCI
YDTLALRNAS IGLHTREVSK NYEQANATLN QYPPSINGGR VIEAYKGQTT LIQYTSNAED
ANFTLRDSCT DLELFENGTL LWTPKSLEPF TLEILARSAK IGLASALQPR TVVCHCNAES
QCLYNQTSRV GNSSLEVAGC KCDGGTFGRY CEGSEDACEE PCFPSVHCVP GKGCEACPPN
LTGDGRHCAA LGSSFLCQNQ SCPVNYCYNQ GHCYISQTLG CQPMCTCPPA FTDSRCFLAG
NNFSPTVNLE LPLRVIQLLL SEEENASMAE VNASVAYRLG TLDMRAFLRN SQVERIDSAA
PASGSPIQHW MVISEFQYRP RGPVIDFLNN QLLAAVVEAF LYHVPRRSEE PRNDVVFQPI
SGEDVRDVTA LNVSTLKAYF RCDGYKGYDL VYSPQSGFTC VSPCSRGYCD HGGQCQHLPS
GPRCSCVSFS IYTAWGEHCE HLSMKLDAFF GIFFGALGGL LLLGVGTFVV LRFWGCSGAR
FSYFLNSAEA LP*
speed 1.75 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
Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999512 (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) chr3:195501149C>TN/A show variant in all transcripts   IGV
HGNC symbol MUC4
Ensembl transcript ID ENST00000349607
Genbank transcript ID NM_138297
UniProt peptide Q99102
alteration type single base exchange
alteration region CDS
DNA changes c.110G>A
cDNA.150G>A
g.38000G>A
AA changes G37D Score: 94 explain score(s)
position(s) of altered AA
if AA alteration in CDS
37
frameshift no
known variant Reference ID: rs2259292
databasehomozygous (T/T)heterozygousallele carriers
1000G89811402038
ExAC19889-701112878
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.1620
-0.4710
(flanking)-0.2520
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased37990wt: 0.9900 / mu: 0.9901 (marginal change - not scored)wt: CAGGAGTTTCCCTCTTCCCCTATGGGGCAGGCGCCGGGGAC
mu: CAGGAGTTTCCCTCTTCCCCTATGGGGCAGACGCCGGGGAC
 ccct|ATGG
Acc marginally increased37994wt: 0.9960 / mu: 0.9960 (marginal change - not scored)wt: AGTTTCCCTCTTCCCCTATGGGGCAGGCGCCGGGGACCTGG
mu: AGTTTCCCTCTTCCCCTATGGGGCAGACGCCGGGGACCTGG
 atgg|GGCA
Acc marginally increased37991wt: 0.7095 / mu: 0.7214 (marginal change - not scored)wt: AGGAGTTTCCCTCTTCCCCTATGGGGCAGGCGCCGGGGACC
mu: AGGAGTTTCCCTCTTCCCCTATGGGGCAGACGCCGGGGACC
 ccta|TGGG
Donor increased38001wt: 0.40 / mu: 0.56wt: GCAGGCGCCGGGGAC
mu: GCAGACGCCGGGGAC
 AGGC|gccg
distance from splice site 28
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      37VPGVSLFPYGAGAGDLEFVRRTVD
mutated  not conserved    37VPGVSLFPYGADAGDLEFVRRTV
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000079620  2383LPDQGISLFPYGSEVGDQNLFARTV
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no alignment  FBgn0051004  n/a
Celegans  no alignment  K03H1.5  n/a
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
161161CARBOHYDO-linked (GalNAc...) (Potential).might get lost (downstream of altered splice site)
235235CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
260260CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
622622CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
7931013COMPBIASSer-rich.might get lost (downstream of altered splice site)
10021038REGIONRepeat.might get lost (downstream of altered splice site)
11541309DOMAINNIDO.might get lost (downstream of altered splice site)
11941194CONFLICTM -> I (in Ref. 1; CAB85602/CAB85603/ CAB85604/CAB85605/CAB85606, 2; CAB81773/ CAC14141/CAC14142/CAC14143, 3; AAM66747, 4; CAD22550 and 5; CAB38059).might get lost (downstream of altered splice site)
12591259CONFLICTN -> K (in Ref. 2; CAB81773/CAC14143/ CAC10061 and 3; AAM66747).might get lost (downstream of altered splice site)
12711271CONFLICTY -> F (in Ref. 2; CAB81773/CAC14143/ CAC10061 and 3; AAM66747).might get lost (downstream of altered splice site)
13051305CONFLICTR -> G (in Ref. 2; CAB81773/CAC14143/ CAC10061 and 3; AAM66747).might get lost (downstream of altered splice site)
13101425DOMAINAMOP.might get lost (downstream of altered splice site)
14381673DOMAINVWFD.might get lost (downstream of altered splice site)
14441445SITECleavage.might get lost (downstream of altered splice site)
14721472CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
15251525CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
15441544CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
15531553CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
15571557CONFLICTV -> A (in Ref. 2; CAB81773/CAC14143/ CAC10061 and 3; AAM66747).might get lost (downstream of altered splice site)
15881588CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
16091609CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
16321632CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
16591659CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
16851685CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
17031703CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
17391739CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
17541754CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
18021802CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
18091809CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
18571857CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
18751914DOMAINEGF-like 1.might get lost (downstream of altered splice site)
18761876CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
18791879DISULFIDBy similarity.might get lost (downstream of altered splice site)
18841884DISULFIDBy similarity.might get lost (downstream of altered splice site)
18901890DISULFIDBy similarity.might get lost (downstream of altered splice site)
19021902DISULFIDBy similarity.might get lost (downstream of altered splice site)
19041904DISULFIDBy similarity.might get lost (downstream of altered splice site)
19131913DISULFIDBy similarity.might get lost (downstream of altered splice site)
19201921CONFLICTMissing (in Ref. 2; CAC14143).might get lost (downstream of altered splice site)
19421942CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
19491949CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
20392039CONFLICTG -> E (in Ref. 1; CAB85604/CAB85605/ CAB85606, 4; CAD22550 and 5; CAB38059).might get lost (downstream of altered splice site)
20492049CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
20782117DOMAINEGF-like 2.might get lost (downstream of altered splice site)
20812081DISULFIDBy similarity.might get lost (downstream of altered splice site)
20862086DISULFIDBy similarity.might get lost (downstream of altered splice site)
20922092DISULFIDBy similarity.might get lost (downstream of altered splice site)
21012101DISULFIDBy similarity.might get lost (downstream of altered splice site)
21032103DISULFIDBy similarity.might get lost (downstream of altered splice site)
21162116DISULFIDBy similarity.might get lost (downstream of altered splice site)
21262146TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3378 / 3378
position (AA) of stopcodon in wt / mu AA sequence 1126 / 1126
position of stopcodon in wt / mu cDNA 3418 / 3418
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 41 / 41
chromosome 3
strand -1
last intron/exon boundary 3214
theoretical NMD boundary in CDS 3123
length of CDS 3378
coding sequence (CDS) position 110
cDNA position
(for ins/del: last normal base / first normal base)
150
gDNA position
(for ins/del: last normal base / first normal base)
38000
chromosomal position
(for ins/del: last normal base / first normal base)
195501149
original gDNA sequence snippet CCTCTTCCCCTATGGGGCAGGCGCCGGGGACCTGGAGTTCG
altered gDNA sequence snippet CCTCTTCCCCTATGGGGCAGACGCCGGGGACCTGGAGTTCG
original cDNA sequence snippet CCTCTTCCCCTATGGGGCAGGCGCCGGGGACCTGGAGTTCG
altered cDNA sequence snippet CCTCTTCCCCTATGGGGCAGACGCCGGGGACCTGGAGTTCG
wildtype AA sequence MKGARWRRVP WVSLSCLCLC LLPHVVPGVS LFPYGAGAGD LEFVRRTVDF TSPLFKPATG
FPLGSSLRDS LYFTDNGQII FPESDYQIFS YPNPLPTGFT GRDPVALVAP FWDDADFSTG
RGTTFYQEYE TFYGEHSLLV QQAESWIRKM TNNGGYKARW ALKVTWVNAH AYPAQWTLGS
NTYQAILSTD GSRSYALFLY QSGGMQWDVA QRSGNPVLMG FSSGDGYFEN SPLMSQPVWE
RYRPDRFLNS NSGLQGLQFY RLHREERPNY RLECLQWLKS QPRWPSWGWN QVSCPCSWQQ
GRRDLRFQPV SIGRWGLGSR QLCSFTSWRG GVCCSYGPWG EFREGWHVQR PWQLAQELEP
QSWCCRWNDK PYLCALYQQR RPHVGCATYR PPQPAWMFGD PHITTLDGVS YTFNGLGDFL
LVGAQDGNSS FLLQGRTAQT GSAQATNFIA FAAQYRSSSL GPVTVQWLLE PHDAIRVLLD
NQTVTFQPDH EDGGGQETFN ATGVLLSRNG SEVSASFDGW ATVSVIALSN ILHASASLPP
EYQNRTEGLL GVWNNNPEDD FRMPNGSTIP PGSPEEMLFH FGMTWQINGT GLLGKRNDQL
PSNFTPVFYS QLQKNSSWAE HLISNCDGDS SCIYDTLALR NASIGLHTRE VSKNYEQANA
TLNQYPPSIN GGRVIEAYKG QTTLIQYTSN AEDANFTLRD SCTDLELFEN GTLLWTPKSL
EPFTLEILAR SAKIGLASAL QPRTVVCHCN AESQCLYNQT SRVGNSSLEV AGCKCDGGTF
GRYCEGSEDA CEEPCFPSVH CVPGKGCEAC PPNLTGDGRH CAALGSSFLC QNQSCPVNYC
YNQGHCYISQ TLGCQPMCTC PPAFTDSRCF LAGNNFSPTV NLELPLRVIQ LLLSEEENAS
MAEVNASVAY RLGTLDMRAF LRNSQVERID SAAPASGSPI QHWMVISEFQ YRPRGPVIDF
LNNQLLAAVV EAFLYHVPRR SEEPRNDVVF QPISGEDVRD VTALNVSTLK AYFRCDGYKG
YDLVYSPQSG FTCVSPCSRG YCDHGGQCQH LPSGPRCSCV SFSIYTAWGE HCEHLSMKLD
AFFGIFFGAL GGLLLLGVGT FVVLRFWGCS GARFSYFLNS AEALP*
mutated AA sequence MKGARWRRVP WVSLSCLCLC LLPHVVPGVS LFPYGADAGD LEFVRRTVDF TSPLFKPATG
FPLGSSLRDS LYFTDNGQII FPESDYQIFS YPNPLPTGFT GRDPVALVAP FWDDADFSTG
RGTTFYQEYE TFYGEHSLLV QQAESWIRKM TNNGGYKARW ALKVTWVNAH AYPAQWTLGS
NTYQAILSTD GSRSYALFLY QSGGMQWDVA QRSGNPVLMG FSSGDGYFEN SPLMSQPVWE
RYRPDRFLNS NSGLQGLQFY RLHREERPNY RLECLQWLKS QPRWPSWGWN QVSCPCSWQQ
GRRDLRFQPV SIGRWGLGSR QLCSFTSWRG GVCCSYGPWG EFREGWHVQR PWQLAQELEP
QSWCCRWNDK PYLCALYQQR RPHVGCATYR PPQPAWMFGD PHITTLDGVS YTFNGLGDFL
LVGAQDGNSS FLLQGRTAQT GSAQATNFIA FAAQYRSSSL GPVTVQWLLE PHDAIRVLLD
NQTVTFQPDH EDGGGQETFN ATGVLLSRNG SEVSASFDGW ATVSVIALSN ILHASASLPP
EYQNRTEGLL GVWNNNPEDD FRMPNGSTIP PGSPEEMLFH FGMTWQINGT GLLGKRNDQL
PSNFTPVFYS QLQKNSSWAE HLISNCDGDS SCIYDTLALR NASIGLHTRE VSKNYEQANA
TLNQYPPSIN GGRVIEAYKG QTTLIQYTSN AEDANFTLRD SCTDLELFEN GTLLWTPKSL
EPFTLEILAR SAKIGLASAL QPRTVVCHCN AESQCLYNQT SRVGNSSLEV AGCKCDGGTF
GRYCEGSEDA CEEPCFPSVH CVPGKGCEAC PPNLTGDGRH CAALGSSFLC QNQSCPVNYC
YNQGHCYISQ TLGCQPMCTC PPAFTDSRCF LAGNNFSPTV NLELPLRVIQ LLLSEEENAS
MAEVNASVAY RLGTLDMRAF LRNSQVERID SAAPASGSPI QHWMVISEFQ YRPRGPVIDF
LNNQLLAAVV EAFLYHVPRR SEEPRNDVVF QPISGEDVRD VTALNVSTLK AYFRCDGYKG
YDLVYSPQSG FTCVSPCSRG YCDHGGQCQH LPSGPRCSCV SFSIYTAWGE HCEHLSMKLD
AFFGIFFGAL GGLLLLGVGT FVVLRFWGCS GARFSYFLNS AEALP*
speed 1.70 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
Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999512 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:195501149C>TN/A show variant in all transcripts   IGV
HGNC symbol MUC4
Ensembl transcript ID ENST00000475231
Genbank transcript ID N/A
UniProt peptide Q99102
alteration type single base exchange
alteration region CDS
DNA changes c.12971G>A
cDNA.13043G>A
g.38000G>A
AA changes G4324D Score: 94 explain score(s)
position(s) of altered AA
if AA alteration in CDS
4324
frameshift no
known variant Reference ID: rs2259292
databasehomozygous (T/T)heterozygousallele carriers
1000G89811402038
ExAC19889-701112878
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.1620
-0.4710
(flanking)-0.2520
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased37990wt: 0.9900 / mu: 0.9901 (marginal change - not scored)wt: CAGGAGTTTCCCTCTTCCCCTATGGGGCAGGCGCCGGGGAC
mu: CAGGAGTTTCCCTCTTCCCCTATGGGGCAGACGCCGGGGAC
 ccct|ATGG
Acc marginally increased37994wt: 0.9960 / mu: 0.9960 (marginal change - not scored)wt: AGTTTCCCTCTTCCCCTATGGGGCAGGCGCCGGGGACCTGG
mu: AGTTTCCCTCTTCCCCTATGGGGCAGACGCCGGGGACCTGG
 atgg|GGCA
Acc marginally increased37991wt: 0.7095 / mu: 0.7214 (marginal change - not scored)wt: AGGAGTTTCCCTCTTCCCCTATGGGGCAGGCGCCGGGGACC
mu: AGGAGTTTCCCTCTTCCCCTATGGGGCAGACGCCGGGGACC
 ccta|TGGG
Donor increased38001wt: 0.40 / mu: 0.56wt: GCAGGCGCCGGGGAC
mu: GCAGACGCCGGGGAC
 AGGC|gccg
distance from splice site 28
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      4324ERGVSLFPYGAGAGDLEFVRRTVD
mutated  not conserved    4324YGADAGDLEFVRRTV
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000079620  2385SEVGDQNLFARTV
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no alignment  FBgn0051004  n/a
Celegans  no alignment  K03H1.5  n/a
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 16083 / 16083
position (AA) of stopcodon in wt / mu AA sequence 5361 / 5361
position of stopcodon in wt / mu cDNA 16155 / 16155
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 73 / 73
chromosome 3
strand -1
last intron/exon boundary 15951
theoretical NMD boundary in CDS 15828
length of CDS 16083
coding sequence (CDS) position 12971
cDNA position
(for ins/del: last normal base / first normal base)
13043
gDNA position
(for ins/del: last normal base / first normal base)
38000
chromosomal position
(for ins/del: last normal base / first normal base)
195501149
original gDNA sequence snippet CCTCTTCCCCTATGGGGCAGGCGCCGGGGACCTGGAGTTCG
altered gDNA sequence snippet CCTCTTCCCCTATGGGGCAGACGCCGGGGACCTGGAGTTCG
original cDNA sequence snippet CCTCTTCCCCTATGGGGCAGGCGCCGGGGACCTGGAGTTCG
altered cDNA sequence snippet CCTCTTCCCCTATGGGGCAGACGCCGGGGACCTGGAGTTCG
wildtype AA sequence MKGARWRRVP WVSLSCLCLC LLPHVVPGTT EDTLITGSKT AAPVTSTGST TATLEGQSTA
ASSRTSNQDI SASSQNHQTK STETTSKAQT DTLTQMMTST LFSSPSVHNV METAPPDEMT
TSFPSSVTNT LMMTSKTITM TTSTDSTLGN TEETSTAGTE SSTPVTSAVS ITAGQEGQSR
TTSWRTSIQD TSASSQNHWT RSTQTTRESQ TSTLTHRTTS TPSFSPSVHN VTGTVSQKTS
PSGETATSSL CSVTNTSMMT SEKITVTTST GSTLGNPGET SSVPVTGSLM PVTSAALVTF
DPEGQSPATF SRTSTQDTTA FSKNHQTQSV ETTRVSQINT LNTLTPVTTS TVLSSPSGFN
PSGTVSQETF PSGETTTSSP SSVSNTFLVT SKVFRMPTSR DSTLGNTEET SLSVSGTISA
ITSKVSTIWW SDTLSTALSP SSLPPKISTA FHTQQSEGAE TTGRPHERSS FSPGVSQEIF
TLHETTTWPS SFSSKGHTTW SQTELPSTST GAATRLVTGN PSTGTAGTIP RVPSKVSAIG
EPGEPTTYSS HSTTLPKTTG AGAQTQWTQE TGTTGEALLS SPSYSVTQMI KTATSPSSSP
MLDRHTSQQI TTAPSTNHST IHSTSTSPQE SPAVSQRGHT QAPQTTQESQ TTRSVSPMTD
TKTVTTPGSS FTASGHSPSE IVPQDAPTIS AATTFAPAPT GDGHTTQAPT TALQAAPSSH
DATLGPSGGT SLSKTGALTL ANSVVSTPGG PEGQWTSASA STSPDTAAAM THTHQAESTE
ASGQTQTSEP ASSGSRTTSA GTATPSSSGA SGTTPSGSEG ISTSGETTRF SSNPSRDSHT
TQSTTELLSA SASHGAIPVS TGMASSIVPG TFHPTLSEAS TAGRPTGQSS PTSPSASPQE
TAAISRMAQT QRTRTSRGSD TISLASQATD TFSTVPPTPP SITSTGLTSP QTETHTLSPS
GSGKTFTTAL ISNATPLPVT YASSASTGHT TPLHVTDASS VSTGHATPLP VTSPSSVSTG
HTTPLPVTDT SSESTGHVTP LPVTSFSSAS TGDSTPLPVT DTSSASTGHV TPLPVTSLSS
ASTGDTTPLP VTDTSSASTG HATSLPVTDT SSVSTGHTTP LPVTDTSSAS TGHATSLPVT
DTSSVSTGHT TPLHVTDASS ASTGQATPLP VTSLSSVSTG DTTPLPVTSP SSASTGHATP
LLVTDTSSAS TGHATPLPVT DASSVSTDHA TSLPVTIPSA ASTGHTTPLP VTDTSSASTG
QATSLLVTDT SSVSTGDTTP LPVTSTSSAS TGHVTPLHVT SPSSASTGHA TPLPVTSLSS
ASTGDTMPLP VTSPSSASTG DTTPLPVTDA SSVSTGHTTP LHVTDASSAS TGQATPLPVT
SLSSVSTGDT TPLPVTSPSS ASTGHATPLL VTDTSSASTG HATPLPVTDA SSVSTDHATS
LPVTIPSAAS TGHTTPLPVT DTSSASTGQA TSLLVTDTSS VSTGDTTPLP VTSTSSASTG
HVTPLHVTSP SSASTGHATP LPVTSLSSAS TGDTMPLPVT SPSSASTGDT TPLPVTDASS
VSTGHTTPLP VTSPSSASTG HTTPLPVTDT SSASKGDTTP LPVTSPSSAS TGHTTPLPVT
DTSSASTGDT TPLPVTNASS LSTGHATPLH VTSPSSASTG HATPLPVTST SSASTGHATP
LPVTGLSSAT TDDTTRLPVT DVSSASTGQA TPLPVTSLSS VSTGDTTPLP VTSPSSASTG
HASPLLVTDA SSASTGQATP LPVTDTSSVS TAHATPLPVT GLSSASTDDT TRLPVTDVSS
ASTGQAIPLP VTSPSSASTG DTTPLPVTDA SSASTGDTTS LPVTIPSSAS SGHTTSLPVT
DASSVSTGHA TSLLVTDASS VSTGDTTPLP VTDTNSASTG DTTPLHVTDA SSVSTGHATS
LPVTSLSSAS TGDTTPLPVT SPSSASSGHT TPLPVTDASS VPTGHATSLP VTDASSVSTG
HATPLPVTDA SSVSTGHATP LPVTDTSSVS TGQATPLPVT SLSSASTGDT TPLPVTDTSS
ASTGQDTPLP VTSLSSVSTG DTTPLPVTNP SSASTGHATP LLVTDASSIS TGHATSLLVT
DASSVSTGHA TALHDTDASS LSTGDTTPLP VTSPSSTSTG DTTPLPVTET SSVSTGHATS
LPVTDTSSAS TGHATSLPVT DTSSASTGHA TPLPVTDTSS ASTGQATPLP VTSPSSASTG
HAIPLLVTDT SSASTGQATP LPVTSLSSAS TGDTTPLPVT DASSVSTGHA TSLPVTSLSS
VSTGDTTPLP VTSPSSASTG HATPLHVTDA SSASTGHATP LPVTSLSSAS TGDTTPLPVT
SPSSASTGHA TPLHVTDASS VSTGDTTPLP VTSSSSASSG HTTPLPVTDA SSASTGDTTP
LPVTDTSSAS TGHATHLPVT GLSSASTGDT TRLPVTNVSS ASTGHATPLP VTSTSSASTG
DTTPLPGTDT SSVSTGHTTP LLVTDASSVS TGDTTRLPVT SPSSASTGHT TPLPVTDTPS
ASTGDTTPLP VTNASSLSTR HATSLHVTSP SSASTGHATS LPVTDTSAAS TGHATPLPVT
STSSASTGDT TPLPVTDTYS ASTGQATPLP VTSLSSVSTG DTTPLPVTSP SSASTGHATP
LLVTDASSAS TGQATPLPVT SLSSVSTGDT TPLPVTSPSS ASTGHATSLP VTDTSSASTG
DTTSLPVTDT SSAYTGDTTS LPVTDTSSSS TGDTTPLLVT ETSSVSTGDT TPLPVTDTSS
ASTGHATPLP VTNTSSVSTG HATPLHVTSP SSASTGHTTP LPVTDASSVS TGHATSLPVT
DASSVFTGHA TSLPVTIPSS ASSGHTTPLP VTDASSVSTG HATSLPVTDA SSVSTGHATP
LPVTDASSVS TGHATPLPLT SLSSVSTGDT TPLPVTDTSS ASTGQATPLP VTSLSSVSTG
DTTPLPVTDT SSASTGHATS LPVTDTSSAS TGHATPLPDT DTSSASTGHA TLLPVTDTSS
ASIGHATSLP VTDTSSISTG HATPLHVTSP SSASTGHATP LPVTDTSSAS TGHANPLHVT
SPSSASTGHA TPLPVTDTSS ASTGHATPLP VTSLSSVSTG DTTPLPVTSP SSASTGHTTP
LPVTDTSSAS TGQATALPVT STSSASTGDT TPLPVTDTSS ASTGQATPLP VTSLSSVSTG
DTTPLPVTSP SSASTGHATP LLVTDASSAS TGQATPLPVT SLSSVSTGDT TPLPVTSPSS
ASTGHATSLP VTDTSSASTG DTTSLPVTDT SSAYTGDTTS LPVTDTSSSS TGDTTPLLVT
ETSSVSTGHA TPLLVTDASS ASTGHATPLH VTSPSSASTG DTTPVPVTDT SSVSTGHATP
LPVTGLSSAS TGDTTRLPVT DISSASTGQA TPLPVTNTSS VSTGDTMPLP VTSPSSASTG
HATPLPVTST SSASTGHATP VPVTSTSSAS TGHTTPLPVT DTSSASTGDT TPLPVTSPSS
ASTGHTTPLH VTIPSSASTG DTSTLPVTGA SSASTGHATP LPVTDTSSVS TGHATPLPVT
SLSSVSTGDT TPLPVTDASS ASTGQATPLP VTSLSSVSTG DTTPLLVTDA SSVSTGHATP
LPVTDTSSAS TGDTTRLPVT DTSSASTGQA TPLPVTSLSS VSTGDTTPLL VTDASSVSTG
HATPLPVTDT SSASTGDTTR LPVTDTSSAS TGQATPLPVT IPSSSSSGHT TPLPVTSTSS
VSTGHVTPLH VTSPSSASTG HVTPLPVTST SSASTGHATP LLVTDASSVS TGHATPLPVT
DASSASTGDT TPLPVTDTSS ASTGQATPLP VTSLSSVSTG DTTPLPVTDA SSASTGHATP
LPVTIPSSVS TGDTMPLPVT SPSSASTGHA TPLPVTGLSS ASTGDTTPLP VTDTSSASTR
HATPLPVTDT SSASTDDTTR LPVTDVSSAS TGHATPLPVT STSSASTGDT TPLPVTDTSS
VSTGHATSLP VTSRSSASTG HATPLPVTDT SSVSTGHATP LPVTSTSSVS TGHATPLPVT
SPSSASTGHA TPVPVTSTSS ASTGDTTPLP VTNASSLSTG HATPLHVTSP SSASRGDTST
LPVTDASSAS TGHATPLPLT SLSSVSTGDT TPLPVTDTSS ASTGQATPLP VTSLSSVSTG
DTTPLPVTIP SSASSGHTTS LPVTDASSVS TGHGTPLPVT STSSASTGDT TPLPVTDTSS
ASTGHATPLP VTDTSSASTG HATPLPVTSL SSVSTGHATP LAVSSATSAS TVSSDSPLKM
ETPGMTTPSL KTDGGRRTAT SPPPTTSQTI ISTIPSTAMH TRSTAAPIPI LPERGVSLFP
YGAGAGDLEF VRRTVDFTSP LFKPATGFPL GSSLRDSLYF TDNGQIIFPE SDYQIFSYPN
PLPTGFTGRD PVALVAPFWD DADFSTGRGT TFYQSNTYQA ILSTDGSRSY ALFLYQSGGM
QWDVAQRSGN PVLMGFSSGD GYFENSPLMS QPVWERYRPD RFLNSNSGLQ GLQFYRLHRE
ERPNYRLECL QWLKSQPRWP SWGWNQVSCP CSWQQGRRDL RFQPVSIGRW GLGSRQLCSF
TSWRGGVCCS YGPWGEFREG WHVQRPWQLA QELEPQSWCC RWNDKPYLCA LYQQRRPHVG
CATYRPPQPA WMFGDPHITT LDGVSYTFNG LGDFLLVGAQ DGNSSFLLQG RTAQTGSAQA
TNFIAFAAQY RSSSLGPVTV QWLLEPHDAI RVLLDNQTVT FQPDHEDGGG QETFNATGVL
LSRNGSEVSA SFDGWATVSV IALSNILHAS ASLPPEYQNR TEGLLGVWNN NPEDDFRMPN
GSTIPPGSPE EMLFHFGMTW QINGTGLLGK RNDQLPSNFT PVFYSQLQKN SSWAEHLISN
CDGDSSCIYD TLALRNASIG LHTREVSKNY EQANATLNQY PPSINGGRVI EAYKGQTTLI
QYTSNAEDAN FTLRDSCTDL ELFENGTLLW TPKSLEPFTL EILARSAKIG LASALQPRTV
VCHCNAESQC LYNQTSRVGN SSLEVAGCKC DGGTFGRYCE GSEDACEEPC FPSVHCVPGK
GCEACPPNLT GDGRHCAALG SSFLCQNQSC PVNYCYNQGH CYISQTLGCQ PMCTCPPAFT
DSRCFLAGNN FSPTVNLELP LRVIQLLLSE EENASMAEVN ASVAYRLGTL DMRAFLRNSQ
VERIDSAAPA SGSPIQHWMV ISEFQYRPRG PVIDFLNNQL LAAVVEAFLY HVPRRSEEPR
NDVVFQPISG EDVRDVTALN VSTLKAYFRC DGYKGYDLVY SPQSGFTCVS PCSRGYCDHG
GQCQHLPSGP RCSCVSFSIY TAWGEHCEHL SMKLDAFFGI FFGALGGLLL LGVGTFVVLR
FWGCSGARFS YFLNSAEALP *
mutated AA sequence MKGARWRRVP WVSLSCLCLC LLPHVVPGTT EDTLITGSKT AAPVTSTGST TATLEGQSTA
ASSRTSNQDI SASSQNHQTK STETTSKAQT DTLTQMMTST LFSSPSVHNV METAPPDEMT
TSFPSSVTNT LMMTSKTITM TTSTDSTLGN TEETSTAGTE SSTPVTSAVS ITAGQEGQSR
TTSWRTSIQD TSASSQNHWT RSTQTTRESQ TSTLTHRTTS TPSFSPSVHN VTGTVSQKTS
PSGETATSSL CSVTNTSMMT SEKITVTTST GSTLGNPGET SSVPVTGSLM PVTSAALVTF
DPEGQSPATF SRTSTQDTTA FSKNHQTQSV ETTRVSQINT LNTLTPVTTS TVLSSPSGFN
PSGTVSQETF PSGETTTSSP SSVSNTFLVT SKVFRMPTSR DSTLGNTEET SLSVSGTISA
ITSKVSTIWW SDTLSTALSP SSLPPKISTA FHTQQSEGAE TTGRPHERSS FSPGVSQEIF
TLHETTTWPS SFSSKGHTTW SQTELPSTST GAATRLVTGN PSTGTAGTIP RVPSKVSAIG
EPGEPTTYSS HSTTLPKTTG AGAQTQWTQE TGTTGEALLS SPSYSVTQMI KTATSPSSSP
MLDRHTSQQI TTAPSTNHST IHSTSTSPQE SPAVSQRGHT QAPQTTQESQ TTRSVSPMTD
TKTVTTPGSS FTASGHSPSE IVPQDAPTIS AATTFAPAPT GDGHTTQAPT TALQAAPSSH
DATLGPSGGT SLSKTGALTL ANSVVSTPGG PEGQWTSASA STSPDTAAAM THTHQAESTE
ASGQTQTSEP ASSGSRTTSA GTATPSSSGA SGTTPSGSEG ISTSGETTRF SSNPSRDSHT
TQSTTELLSA SASHGAIPVS TGMASSIVPG TFHPTLSEAS TAGRPTGQSS PTSPSASPQE
TAAISRMAQT QRTRTSRGSD TISLASQATD TFSTVPPTPP SITSTGLTSP QTETHTLSPS
GSGKTFTTAL ISNATPLPVT YASSASTGHT TPLHVTDASS VSTGHATPLP VTSPSSVSTG
HTTPLPVTDT SSESTGHVTP LPVTSFSSAS TGDSTPLPVT DTSSASTGHV TPLPVTSLSS
ASTGDTTPLP VTDTSSASTG HATSLPVTDT SSVSTGHTTP LPVTDTSSAS TGHATSLPVT
DTSSVSTGHT TPLHVTDASS ASTGQATPLP VTSLSSVSTG DTTPLPVTSP SSASTGHATP
LLVTDTSSAS TGHATPLPVT DASSVSTDHA TSLPVTIPSA ASTGHTTPLP VTDTSSASTG
QATSLLVTDT SSVSTGDTTP LPVTSTSSAS TGHVTPLHVT SPSSASTGHA TPLPVTSLSS
ASTGDTMPLP VTSPSSASTG DTTPLPVTDA SSVSTGHTTP LHVTDASSAS TGQATPLPVT
SLSSVSTGDT TPLPVTSPSS ASTGHATPLL VTDTSSASTG HATPLPVTDA SSVSTDHATS
LPVTIPSAAS TGHTTPLPVT DTSSASTGQA TSLLVTDTSS VSTGDTTPLP VTSTSSASTG
HVTPLHVTSP SSASTGHATP LPVTSLSSAS TGDTMPLPVT SPSSASTGDT TPLPVTDASS
VSTGHTTPLP VTSPSSASTG HTTPLPVTDT SSASKGDTTP LPVTSPSSAS TGHTTPLPVT
DTSSASTGDT TPLPVTNASS LSTGHATPLH VTSPSSASTG HATPLPVTST SSASTGHATP
LPVTGLSSAT TDDTTRLPVT DVSSASTGQA TPLPVTSLSS VSTGDTTPLP VTSPSSASTG
HASPLLVTDA SSASTGQATP LPVTDTSSVS TAHATPLPVT GLSSASTDDT TRLPVTDVSS
ASTGQAIPLP VTSPSSASTG DTTPLPVTDA SSASTGDTTS LPVTIPSSAS SGHTTSLPVT
DASSVSTGHA TSLLVTDASS VSTGDTTPLP VTDTNSASTG DTTPLHVTDA SSVSTGHATS
LPVTSLSSAS TGDTTPLPVT SPSSASSGHT TPLPVTDASS VPTGHATSLP VTDASSVSTG
HATPLPVTDA SSVSTGHATP LPVTDTSSVS TGQATPLPVT SLSSASTGDT TPLPVTDTSS
ASTGQDTPLP VTSLSSVSTG DTTPLPVTNP SSASTGHATP LLVTDASSIS TGHATSLLVT
DASSVSTGHA TALHDTDASS LSTGDTTPLP VTSPSSTSTG DTTPLPVTET SSVSTGHATS
LPVTDTSSAS TGHATSLPVT DTSSASTGHA TPLPVTDTSS ASTGQATPLP VTSPSSASTG
HAIPLLVTDT SSASTGQATP LPVTSLSSAS TGDTTPLPVT DASSVSTGHA TSLPVTSLSS
VSTGDTTPLP VTSPSSASTG HATPLHVTDA SSASTGHATP LPVTSLSSAS TGDTTPLPVT
SPSSASTGHA TPLHVTDASS VSTGDTTPLP VTSSSSASSG HTTPLPVTDA SSASTGDTTP
LPVTDTSSAS TGHATHLPVT GLSSASTGDT TRLPVTNVSS ASTGHATPLP VTSTSSASTG
DTTPLPGTDT SSVSTGHTTP LLVTDASSVS TGDTTRLPVT SPSSASTGHT TPLPVTDTPS
ASTGDTTPLP VTNASSLSTR HATSLHVTSP SSASTGHATS LPVTDTSAAS TGHATPLPVT
STSSASTGDT TPLPVTDTYS ASTGQATPLP VTSLSSVSTG DTTPLPVTSP SSASTGHATP
LLVTDASSAS TGQATPLPVT SLSSVSTGDT TPLPVTSPSS ASTGHATSLP VTDTSSASTG
DTTSLPVTDT SSAYTGDTTS LPVTDTSSSS TGDTTPLLVT ETSSVSTGDT TPLPVTDTSS
ASTGHATPLP VTNTSSVSTG HATPLHVTSP SSASTGHTTP LPVTDASSVS TGHATSLPVT
DASSVFTGHA TSLPVTIPSS ASSGHTTPLP VTDASSVSTG HATSLPVTDA SSVSTGHATP
LPVTDASSVS TGHATPLPLT SLSSVSTGDT TPLPVTDTSS ASTGQATPLP VTSLSSVSTG
DTTPLPVTDT SSASTGHATS LPVTDTSSAS TGHATPLPDT DTSSASTGHA TLLPVTDTSS
ASIGHATSLP VTDTSSISTG HATPLHVTSP SSASTGHATP LPVTDTSSAS TGHANPLHVT
SPSSASTGHA TPLPVTDTSS ASTGHATPLP VTSLSSVSTG DTTPLPVTSP SSASTGHTTP
LPVTDTSSAS TGQATALPVT STSSASTGDT TPLPVTDTSS ASTGQATPLP VTSLSSVSTG
DTTPLPVTSP SSASTGHATP LLVTDASSAS TGQATPLPVT SLSSVSTGDT TPLPVTSPSS
ASTGHATSLP VTDTSSASTG DTTSLPVTDT SSAYTGDTTS LPVTDTSSSS TGDTTPLLVT
ETSSVSTGHA TPLLVTDASS ASTGHATPLH VTSPSSASTG DTTPVPVTDT SSVSTGHATP
LPVTGLSSAS TGDTTRLPVT DISSASTGQA TPLPVTNTSS VSTGDTMPLP VTSPSSASTG
HATPLPVTST SSASTGHATP VPVTSTSSAS TGHTTPLPVT DTSSASTGDT TPLPVTSPSS
ASTGHTTPLH VTIPSSASTG DTSTLPVTGA SSASTGHATP LPVTDTSSVS TGHATPLPVT
SLSSVSTGDT TPLPVTDASS ASTGQATPLP VTSLSSVSTG DTTPLLVTDA SSVSTGHATP
LPVTDTSSAS TGDTTRLPVT DTSSASTGQA TPLPVTSLSS VSTGDTTPLL VTDASSVSTG
HATPLPVTDT SSASTGDTTR LPVTDTSSAS TGQATPLPVT IPSSSSSGHT TPLPVTSTSS
VSTGHVTPLH VTSPSSASTG HVTPLPVTST SSASTGHATP LLVTDASSVS TGHATPLPVT
DASSASTGDT TPLPVTDTSS ASTGQATPLP VTSLSSVSTG DTTPLPVTDA SSASTGHATP
LPVTIPSSVS TGDTMPLPVT SPSSASTGHA TPLPVTGLSS ASTGDTTPLP VTDTSSASTR
HATPLPVTDT SSASTDDTTR LPVTDVSSAS TGHATPLPVT STSSASTGDT TPLPVTDTSS
VSTGHATSLP VTSRSSASTG HATPLPVTDT SSVSTGHATP LPVTSTSSVS TGHATPLPVT
SPSSASTGHA TPVPVTSTSS ASTGDTTPLP VTNASSLSTG HATPLHVTSP SSASRGDTST
LPVTDASSAS TGHATPLPLT SLSSVSTGDT TPLPVTDTSS ASTGQATPLP VTSLSSVSTG
DTTPLPVTIP SSASSGHTTS LPVTDASSVS TGHGTPLPVT STSSASTGDT TPLPVTDTSS
ASTGHATPLP VTDTSSASTG HATPLPVTSL SSVSTGHATP LAVSSATSAS TVSSDSPLKM
ETPGMTTPSL KTDGGRRTAT SPPPTTSQTI ISTIPSTAMH TRSTAAPIPI LPERGVSLFP
YGADAGDLEF VRRTVDFTSP LFKPATGFPL GSSLRDSLYF TDNGQIIFPE SDYQIFSYPN
PLPTGFTGRD PVALVAPFWD DADFSTGRGT TFYQSNTYQA ILSTDGSRSY ALFLYQSGGM
QWDVAQRSGN PVLMGFSSGD GYFENSPLMS QPVWERYRPD RFLNSNSGLQ GLQFYRLHRE
ERPNYRLECL QWLKSQPRWP SWGWNQVSCP CSWQQGRRDL RFQPVSIGRW GLGSRQLCSF
TSWRGGVCCS YGPWGEFREG WHVQRPWQLA QELEPQSWCC RWNDKPYLCA LYQQRRPHVG
CATYRPPQPA WMFGDPHITT LDGVSYTFNG LGDFLLVGAQ DGNSSFLLQG RTAQTGSAQA
TNFIAFAAQY RSSSLGPVTV QWLLEPHDAI RVLLDNQTVT FQPDHEDGGG QETFNATGVL
LSRNGSEVSA SFDGWATVSV IALSNILHAS ASLPPEYQNR TEGLLGVWNN NPEDDFRMPN
GSTIPPGSPE EMLFHFGMTW QINGTGLLGK RNDQLPSNFT PVFYSQLQKN SSWAEHLISN
CDGDSSCIYD TLALRNASIG LHTREVSKNY EQANATLNQY PPSINGGRVI EAYKGQTTLI
QYTSNAEDAN FTLRDSCTDL ELFENGTLLW TPKSLEPFTL EILARSAKIG LASALQPRTV
VCHCNAESQC LYNQTSRVGN SSLEVAGCKC DGGTFGRYCE GSEDACEEPC FPSVHCVPGK
GCEACPPNLT GDGRHCAALG SSFLCQNQSC PVNYCYNQGH CYISQTLGCQ PMCTCPPAFT
DSRCFLAGNN FSPTVNLELP LRVIQLLLSE EENASMAEVN ASVAYRLGTL DMRAFLRNSQ
VERIDSAAPA SGSPIQHWMV ISEFQYRPRG PVIDFLNNQL LAAVVEAFLY HVPRRSEEPR
NDVVFQPISG EDVRDVTALN VSTLKAYFRC DGYKGYDLVY SPQSGFTCVS PCSRGYCDHG
GQCQHLPSGP RCSCVSFSIY TAWGEHCEHL SMKLDAFFGI FFGALGGLLL LGVGTFVVLR
FWGCSGARFS YFLNSAEALP *
speed 1.70 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
Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999512 (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) chr3:195501149C>TN/A show variant in all transcripts   IGV
HGNC symbol MUC4
Ensembl transcript ID ENST00000346145
Genbank transcript ID NM_004532
UniProt peptide Q99102
alteration type single base exchange
alteration region CDS
DNA changes c.263G>A
cDNA.303G>A
g.38000G>A
AA changes G88D Score: 94 explain score(s)
position(s) of altered AA
if AA alteration in CDS
88
frameshift no
known variant Reference ID: rs2259292
databasehomozygous (T/T)heterozygousallele carriers
1000G89811402038
ExAC19889-701112878
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.1620
-0.4710
(flanking)-0.2520
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased37990wt: 0.9900 / mu: 0.9901 (marginal change - not scored)wt: CAGGAGTTTCCCTCTTCCCCTATGGGGCAGGCGCCGGGGAC
mu: CAGGAGTTTCCCTCTTCCCCTATGGGGCAGACGCCGGGGAC
 ccct|ATGG
Acc marginally increased37994wt: 0.9960 / mu: 0.9960 (marginal change - not scored)wt: AGTTTCCCTCTTCCCCTATGGGGCAGGCGCCGGGGACCTGG
mu: AGTTTCCCTCTTCCCCTATGGGGCAGACGCCGGGGACCTGG
 atgg|GGCA
Acc marginally increased37991wt: 0.7095 / mu: 0.7214 (marginal change - not scored)wt: AGGAGTTTCCCTCTTCCCCTATGGGGCAGGCGCCGGGGACC
mu: AGGAGTTTCCCTCTTCCCCTATGGGGCAGACGCCGGGGACC
 ccta|TGGG
Donor increased38001wt: 0.40 / mu: 0.56wt: GCAGGCGCCGGGGAC
mu: GCAGACGCCGGGGAC
 AGGC|gccg
distance from splice site 28
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      88ERGVSLFPYGAGAGDLEFVRRTVD
mutated  not conserved    88ERGVSLFPYGADAGDLEFVRRTV
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000079620  2385EVGDQNLFARTV
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no alignment  FBgn0051004  n/a
Celegans  no alignment  K03H1.5  n/a
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
161161CARBOHYDO-linked (GalNAc...) (Potential).might get lost (downstream of altered splice site)
235235CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
260260CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
622622CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
7931013COMPBIASSer-rich.might get lost (downstream of altered splice site)
10021038REGIONRepeat.might get lost (downstream of altered splice site)
11541309DOMAINNIDO.might get lost (downstream of altered splice site)
11941194CONFLICTM -> I (in Ref. 1; CAB85602/CAB85603/ CAB85604/CAB85605/CAB85606, 2; CAB81773/ CAC14141/CAC14142/CAC14143, 3; AAM66747, 4; CAD22550 and 5; CAB38059).might get lost (downstream of altered splice site)
12591259CONFLICTN -> K (in Ref. 2; CAB81773/CAC14143/ CAC10061 and 3; AAM66747).might get lost (downstream of altered splice site)
12711271CONFLICTY -> F (in Ref. 2; CAB81773/CAC14143/ CAC10061 and 3; AAM66747).might get lost (downstream of altered splice site)
13051305CONFLICTR -> G (in Ref. 2; CAB81773/CAC14143/ CAC10061 and 3; AAM66747).might get lost (downstream of altered splice site)
13101425DOMAINAMOP.might get lost (downstream of altered splice site)
14381673DOMAINVWFD.might get lost (downstream of altered splice site)
14441445SITECleavage.might get lost (downstream of altered splice site)
14721472CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
15251525CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
15441544CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
15531553CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
15571557CONFLICTV -> A (in Ref. 2; CAB81773/CAC14143/ CAC10061 and 3; AAM66747).might get lost (downstream of altered splice site)
15881588CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
16091609CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
16321632CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
16591659CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
16851685CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
17031703CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
17391739CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
17541754CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
18021802CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
18091809CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
18571857CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
18751914DOMAINEGF-like 1.might get lost (downstream of altered splice site)
18761876CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
18791879DISULFIDBy similarity.might get lost (downstream of altered splice site)
18841884DISULFIDBy similarity.might get lost (downstream of altered splice site)
18901890DISULFIDBy similarity.might get lost (downstream of altered splice site)
19021902DISULFIDBy similarity.might get lost (downstream of altered splice site)
19041904DISULFIDBy similarity.might get lost (downstream of altered splice site)
19131913DISULFIDBy similarity.might get lost (downstream of altered splice site)
19201921CONFLICTMissing (in Ref. 2; CAC14143).might get lost (downstream of altered splice site)
19421942CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
19491949CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
20392039CONFLICTG -> E (in Ref. 1; CAB85604/CAB85605/ CAB85606, 4; CAD22550 and 5; CAB38059).might get lost (downstream of altered splice site)
20492049CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
20782117DOMAINEGF-like 2.might get lost (downstream of altered splice site)
20812081DISULFIDBy similarity.might get lost (downstream of altered splice site)
20862086DISULFIDBy similarity.might get lost (downstream of altered splice site)
20922092DISULFIDBy similarity.might get lost (downstream of altered splice site)
21012101DISULFIDBy similarity.might get lost (downstream of altered splice site)
21032103DISULFIDBy similarity.might get lost (downstream of altered splice site)
21162116DISULFIDBy similarity.might get lost (downstream of altered splice site)
21262146TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3531 / 3531
position (AA) of stopcodon in wt / mu AA sequence 1177 / 1177
position of stopcodon in wt / mu cDNA 3571 / 3571
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 41 / 41
chromosome 3
strand -1
last intron/exon boundary 3367
theoretical NMD boundary in CDS 3276
length of CDS 3531
coding sequence (CDS) position 263
cDNA position
(for ins/del: last normal base / first normal base)
303
gDNA position
(for ins/del: last normal base / first normal base)
38000
chromosomal position
(for ins/del: last normal base / first normal base)
195501149
original gDNA sequence snippet CCTCTTCCCCTATGGGGCAGGCGCCGGGGACCTGGAGTTCG
altered gDNA sequence snippet CCTCTTCCCCTATGGGGCAGACGCCGGGGACCTGGAGTTCG
original cDNA sequence snippet CCTCTTCCCCTATGGGGCAGGCGCCGGGGACCTGGAGTTCG
altered cDNA sequence snippet CCTCTTCCCCTATGGGGCAGACGCCGGGGACCTGGAGTTCG
wildtype AA sequence MKGARWRRVP WVSLSCLCLC LLPHVVPGMT TPSLKTDGGR RTATSPPPTT SQTIISTIPS
TAMHTRSTAA PIPILPERGV SLFPYGAGAG DLEFVRRTVD FTSPLFKPAT GFPLGSSLRD
SLYFTDNGQI IFPESDYQIF SYPNPLPTGF TGRDPVALVA PFWDDADFST GRGTTFYQEY
ETFYGEHSLL VQQAESWIRK MTNNGGYKAR WALKVTWVNA HAYPAQWTLG SNTYQAILST
DGSRSYALFL YQSGGMQWDV AQRSGNPVLM GFSSGDGYFE NSPLMSQPVW ERYRPDRFLN
SNSGLQGLQF YRLHREERPN YRLECLQWLK SQPRWPSWGW NQVSCPCSWQ QGRRDLRFQP
VSIGRWGLGS RQLCSFTSWR GGVCCSYGPW GEFREGWHVQ RPWQLAQELE PQSWCCRWND
KPYLCALYQQ RRPHVGCATY RPPQPAWMFG DPHITTLDGV SYTFNGLGDF LLVGAQDGNS
SFLLQGRTAQ TGSAQATNFI AFAAQYRSSS LGPVTVQWLL EPHDAIRVLL DNQTVTFQPD
HEDGGGQETF NATGVLLSRN GSEVSASFDG WATVSVIALS NILHASASLP PEYQNRTEGL
LGVWNNNPED DFRMPNGSTI PPGSPEEMLF HFGMTWQING TGLLGKRNDQ LPSNFTPVFY
SQLQKNSSWA EHLISNCDGD SSCIYDTLAL RNASIGLHTR EVSKNYEQAN ATLNQYPPSI
NGGRVIEAYK GQTTLIQYTS NAEDANFTLR DSCTDLELFE NGTLLWTPKS LEPFTLEILA
RSAKIGLASA LQPRTVVCHC NAESQCLYNQ TSRVGNSSLE VAGCKCDGGT FGRYCEGSED
ACEEPCFPSV HCVPGKGCEA CPPNLTGDGR HCAALGSSFL CQNQSCPVNY CYNQGHCYIS
QTLGCQPMCT CPPAFTDSRC FLAGNNFSPT VNLELPLRVI QLLLSEEENA SMAEVNASVA
YRLGTLDMRA FLRNSQVERI DSAAPASGSP IQHWMVISEF QYRPRGPVID FLNNQLLAAV
VEAFLYHVPR RSEEPRNDVV FQPISGEDVR DVTALNVSTL KAYFRCDGYK GYDLVYSPQS
GFTCVSPCSR GYCDHGGQCQ HLPSGPRCSC VSFSIYTAWG EHCEHLSMKL DAFFGIFFGA
LGGLLLLGVG TFVVLRFWGC SGARFSYFLN SAEALP*
mutated AA sequence MKGARWRRVP WVSLSCLCLC LLPHVVPGMT TPSLKTDGGR RTATSPPPTT SQTIISTIPS
TAMHTRSTAA PIPILPERGV SLFPYGADAG DLEFVRRTVD FTSPLFKPAT GFPLGSSLRD
SLYFTDNGQI IFPESDYQIF SYPNPLPTGF TGRDPVALVA PFWDDADFST GRGTTFYQEY
ETFYGEHSLL VQQAESWIRK MTNNGGYKAR WALKVTWVNA HAYPAQWTLG SNTYQAILST
DGSRSYALFL YQSGGMQWDV AQRSGNPVLM GFSSGDGYFE NSPLMSQPVW ERYRPDRFLN
SNSGLQGLQF YRLHREERPN YRLECLQWLK SQPRWPSWGW NQVSCPCSWQ QGRRDLRFQP
VSIGRWGLGS RQLCSFTSWR GGVCCSYGPW GEFREGWHVQ RPWQLAQELE PQSWCCRWND
KPYLCALYQQ RRPHVGCATY RPPQPAWMFG DPHITTLDGV SYTFNGLGDF LLVGAQDGNS
SFLLQGRTAQ TGSAQATNFI AFAAQYRSSS LGPVTVQWLL EPHDAIRVLL DNQTVTFQPD
HEDGGGQETF NATGVLLSRN GSEVSASFDG WATVSVIALS NILHASASLP PEYQNRTEGL
LGVWNNNPED DFRMPNGSTI PPGSPEEMLF HFGMTWQING TGLLGKRNDQ LPSNFTPVFY
SQLQKNSSWA EHLISNCDGD SSCIYDTLAL RNASIGLHTR EVSKNYEQAN ATLNQYPPSI
NGGRVIEAYK GQTTLIQYTS NAEDANFTLR DSCTDLELFE NGTLLWTPKS LEPFTLEILA
RSAKIGLASA LQPRTVVCHC NAESQCLYNQ TSRVGNSSLE VAGCKCDGGT FGRYCEGSED
ACEEPCFPSV HCVPGKGCEA CPPNLTGDGR HCAALGSSFL CQNQSCPVNY CYNQGHCYIS
QTLGCQPMCT CPPAFTDSRC FLAGNNFSPT VNLELPLRVI QLLLSEEENA SMAEVNASVA
YRLGTLDMRA FLRNSQVERI DSAAPASGSP IQHWMVISEF QYRPRGPVID FLNNQLLAAV
VEAFLYHVPR RSEEPRNDVV FQPISGEDVR DVTALNVSTL KAYFRCDGYK GYDLVYSPQS
GFTCVSPCSR GYCDHGGQCQ HLPSGPRCSC VSFSIYTAWG EHCEHLSMKL DAFFGIFFGA
LGGLLLLGVG TFVVLRFWGC SGARFSYFLN SAEALP*
speed 1.56 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
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Problems