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 5 transcript(s)...
Querying Taster for transcript #1: ENST00000306329
Querying Taster for transcript #2: ENST00000517570
Querying Taster for transcript #3: ENST00000359865
Querying Taster for transcript #4: ENST00000400050
Querying Taster for transcript #5: ENST00000306285
MT speed 0 s - this script 4.385243 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
MTCL1polymorphism_automatic0.888045157349179simple_aaeaffectedM242Tsingle base exchangers35739383show file
MTCL1polymorphism_automatic0.888045157349179simple_aaeaffectedM242Tsingle base exchangers35739383show file
MTCL1polymorphism_automatic0.888045157349179simple_aaeaffectedM242Tsingle base exchangers35739383show file
MTCL1polymorphism_automatic0.913426999898169simple_aaeaffectedM602Tsingle base exchangers35739383show file
MTCL1polymorphism_automatic1without_aaeaffectedsingle base exchangers35739383show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.111954842650821 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr18:8783835T>CN/A show variant in all transcripts   IGV
HGNC symbol MTCL1
Ensembl transcript ID ENST00000517570
Genbank transcript ID N/A
UniProt peptide Q9Y4B5
alteration type single base exchange
alteration region CDS
DNA changes c.725T>C
cDNA.907T>C
g.78177T>C
AA changes M242T Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 242
frameshift no
known variant Reference ID: rs35739383
databasehomozygous (C/C)heterozygousallele carriers
1000G50810461554
ExAC16968-116915799
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.4290.352
5.0990.999
(flanking)1.1851
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased78172wt: 0.9454 / mu: 0.9811 (marginal change - not scored)wt: ATGGAGGACATGCGG
mu: ATGGAGGACACGCGG		 GGAG|gaca
Donor increased78177wt: 0.24 / mu: 0.59wt: GGACATGCGGGGCCA
mu: GGACACGCGGGGCCA		 ACAT|gcgg
distance from splice site 308
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      242ENRGLKAEMEDMRGQQEREGPGRD
mutated  not conserved    242DTRGQQEREGPGR
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000015761  275DMRGQQEREGLGR
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000052105  594DIRVQHEREGTGR
Ggallus  all identical  ENSGALG00000013357  242DMRCQYEKECLSR
Trubripes  all conserved  ENSTRUG00000008561  264NDDLRCQYERDCFGR
Drerio  all conserved  ENSDARG00000091408  492NEDLRSQYERDCFGR
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
42319COMPBIASPro-rich.lost
330404COILEDPotential.might get lost (downstream of altered splice site)
432432MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
432483COILEDPotential.might get lost (downstream of altered splice site)
513718COILEDPotential.might get lost (downstream of altered splice site)
549549MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
618618MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
621621MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
622622MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
685685MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
749749MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
776776MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
907907MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
923923MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
11431201COILEDPotential.might get lost (downstream of altered splice site)
12381278COILEDPotential.might get lost (downstream of altered splice site)
13851385MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13881388MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
14171417MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
14211421MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
14271427MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
15141514MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
15611561MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
15781578MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
15831583MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
15881588MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
15921592MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
16611661MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
16671667MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
16751675MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
16791679MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
16811681MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
16831683MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
18121812MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
18141814MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4638 / 4638
position (AA) of stopcodon in wt / mu AA sequence 1546 / 1546
position of stopcodon in wt / mu cDNA 4820 / 4820
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 183 / 183
chromosome 18
strand 1
last intron/exon boundary 4839
theoretical NMD boundary in CDS 4606
length of CDS 4638
coding sequence (CDS) position 725
cDNA position
(for ins/del: last normal base / first normal base)		 907
gDNA position
(for ins/del: last normal base / first normal base)		 78177
chromosomal position
(for ins/del: last normal base / first normal base)		 8783835
original gDNA sequence snippet CAAGGCAGAGATGGAGGACATGCGGGGCCAGCAGGAGCGGG
altered gDNA sequence snippet CAAGGCAGAGATGGAGGACACGCGGGGCCAGCAGGAGCGGG
original cDNA sequence snippet CAAGGCAGAGATGGAGGACATGCGGGGCCAGCAGGAGCGGG
altered cDNA sequence snippet CAAGGCAGAGATGGAGGACACGCGGGGCCAGCAGGAGCGGG
wildtype AA sequence MEEMRDSYLE EDVYQLQELR RELDRANKNC RILQYRLRKA EQKSLKVAET GQVDGELIRS
LEQDLKVAKD VSVRLHHELK TVEEKRAKAE DENETLRQQM IEVEISKQAL QNELERLKES
SLKRRSTREM YKEKKTFNQD DSADLRCQLQ FAKEEAFLMR KKMAKLGREK DELEQELQKY
KSLYGDVDSP LPTGEAGGPP STREAELKLR LKLVEEEANI LGRKIVELEV ENRGLKAEME
DMRGQQEREG PGRDHAPSIP TSPFGDSLES STELRRHLQF VEEEAELLRR SISEIEDHNR
QLTHELSKFK FEPPREPGWL GEGASPGAGG GAPLQEELKS ARLQISELSG KVLKLQHENH
ALLSNIQRCD LAAHLGLRAP SPRDSDAESD AGKKESDGEE SRLPQPKREG PVGGESDSEE
MFEKTSGFGS GKPSEASEPC PTELLKARED SEYLVTLKHE AQRLERTVER LITDTDSFLH
DAGLRGGAPL PGPGLQGEEE QGEGDQQEPQ LLGTINAKMK AFKKELQAFL EQVNRIGDGL
SPLPHLTESS SFLSTVTSVS RDSPIGNLGK ELGPDLQSRL KEQLEWQLGP ARGDERESLR
LRAARELHRR ADGDTGSHGL GGQTCFSLEM EEEHLYALRW KELEMHSLAL QNTLHERTWS
DEKNLMQQEL RSLKQNIFLF YVKLRWLLKH WRQGKQMEEE GEEFTEGEHP ETLSRLGELG
VQGGHQADGP DHDSDRGCGF PVGEHSPHSR VQIGDHSLRL QTADRGQPHK QVVENQQLFS
AFKALLEDFR AELREDERAR LRLQQQYASD KAAWDVEWAV LKCRLEQLEE KTENKLGELG
SSAESKGALK KEREVHQKLL ADSHSLVMDL RWQIHHSEKN WNREKVELLD RLDRDRQEWE
RQKKEFLWRI EQLQKENSPR RGGSFLCDQK DGNVRPFPHQ GSLRMPRPVA MWPCADADSI
PFEDRPLSKL KESDRCSASE NLYLDALSLD DEPEEPPAHR PEREFRNRLP EEEENHKGNL
QRAVSVSSMS EFQRLMDISP FLPEKGLPST SSKEDVTPPL SPDDLKYIEE FNKSWDYTPN
RGHNGGGPDL WADRTEVGRA GHEDSTEPFP DSSWYLTTSV TMTTDTMTSP EHCQKQPLRS
HVLTEQSGLR VLHSPPAVRR VDSITAAGGE GPFPTSRARG SPGDTKGGPP EPMLSRWPCT
SPRHSRDYVE GARRPLDSPL CTSLGFASPL HSLEMSKNLS DDMKEVAFSV RNAICSGPGE
LQVKDMACQT NGSRTMGTQT VQTISVGLQT EALRGSGVTS SPHKCLTPKA GGGATPVSSP
SRSLRSRQVA PAIEKVQAKF ERTCCSPKYG SPKLQRKPLP KADQPNNRTS PGMAQKGYSE
SAWARSTTTR ESPVHTTIND GLSSLFNIID HSPVVQDPFQ KGLRAGSRSR SAEPRPELGP
GQETGTNSRG RSPSPIGVGS EMCREEGGEG TPVKQDLSAP PGYTLTENVA RILNKKLLEH
ALKEERRQAA HGPPGLHSDS HSLGDTAEPG PMENQTVLLT APWGL*
mutated AA sequence MEEMRDSYLE EDVYQLQELR RELDRANKNC RILQYRLRKA EQKSLKVAET GQVDGELIRS
LEQDLKVAKD VSVRLHHELK TVEEKRAKAE DENETLRQQM IEVEISKQAL QNELERLKES
SLKRRSTREM YKEKKTFNQD DSADLRCQLQ FAKEEAFLMR KKMAKLGREK DELEQELQKY
KSLYGDVDSP LPTGEAGGPP STREAELKLR LKLVEEEANI LGRKIVELEV ENRGLKAEME
DTRGQQEREG PGRDHAPSIP TSPFGDSLES STELRRHLQF VEEEAELLRR SISEIEDHNR
QLTHELSKFK FEPPREPGWL GEGASPGAGG GAPLQEELKS ARLQISELSG KVLKLQHENH
ALLSNIQRCD LAAHLGLRAP SPRDSDAESD AGKKESDGEE SRLPQPKREG PVGGESDSEE
MFEKTSGFGS GKPSEASEPC PTELLKARED SEYLVTLKHE AQRLERTVER LITDTDSFLH
DAGLRGGAPL PGPGLQGEEE QGEGDQQEPQ LLGTINAKMK AFKKELQAFL EQVNRIGDGL
SPLPHLTESS SFLSTVTSVS RDSPIGNLGK ELGPDLQSRL KEQLEWQLGP ARGDERESLR
LRAARELHRR ADGDTGSHGL GGQTCFSLEM EEEHLYALRW KELEMHSLAL QNTLHERTWS
DEKNLMQQEL RSLKQNIFLF YVKLRWLLKH WRQGKQMEEE GEEFTEGEHP ETLSRLGELG
VQGGHQADGP DHDSDRGCGF PVGEHSPHSR VQIGDHSLRL QTADRGQPHK QVVENQQLFS
AFKALLEDFR AELREDERAR LRLQQQYASD KAAWDVEWAV LKCRLEQLEE KTENKLGELG
SSAESKGALK KEREVHQKLL ADSHSLVMDL RWQIHHSEKN WNREKVELLD RLDRDRQEWE
RQKKEFLWRI EQLQKENSPR RGGSFLCDQK DGNVRPFPHQ GSLRMPRPVA MWPCADADSI
PFEDRPLSKL KESDRCSASE NLYLDALSLD DEPEEPPAHR PEREFRNRLP EEEENHKGNL
QRAVSVSSMS EFQRLMDISP FLPEKGLPST SSKEDVTPPL SPDDLKYIEE FNKSWDYTPN
RGHNGGGPDL WADRTEVGRA GHEDSTEPFP DSSWYLTTSV TMTTDTMTSP EHCQKQPLRS
HVLTEQSGLR VLHSPPAVRR VDSITAAGGE GPFPTSRARG SPGDTKGGPP EPMLSRWPCT
SPRHSRDYVE GARRPLDSPL CTSLGFASPL HSLEMSKNLS DDMKEVAFSV RNAICSGPGE
LQVKDMACQT NGSRTMGTQT VQTISVGLQT EALRGSGVTS SPHKCLTPKA GGGATPVSSP
SRSLRSRQVA PAIEKVQAKF ERTCCSPKYG SPKLQRKPLP KADQPNNRTS PGMAQKGYSE
SAWARSTTTR ESPVHTTIND GLSSLFNIID HSPVVQDPFQ KGLRAGSRSR SAEPRPELGP
GQETGTNSRG RSPSPIGVGS EMCREEGGEG TPVKQDLSAP PGYTLTENVA RILNKKLLEH
ALKEERRQAA HGPPGLHSDS HSLGDTAEPG PMENQTVLLT APWGL*
speed 0.97 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: 0.111954842650821 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr18:8783835T>CN/A show variant in all transcripts   IGV
HGNC symbol MTCL1
Ensembl transcript ID ENST00000359865
Genbank transcript ID NM_015210
UniProt peptide Q9Y4B5
alteration type single base exchange
alteration region CDS
DNA changes c.725T>C
cDNA.867T>C
g.78177T>C
AA changes M242T Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 242
frameshift no
known variant Reference ID: rs35739383
databasehomozygous (C/C)heterozygousallele carriers
1000G50810461554
ExAC16968-116915799
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.4290.352
5.0990.999
(flanking)1.1851
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased78172wt: 0.9454 / mu: 0.9811 (marginal change - not scored)wt: ATGGAGGACATGCGG
mu: ATGGAGGACACGCGG		 GGAG|gaca
Donor increased78177wt: 0.24 / mu: 0.59wt: GGACATGCGGGGCCA
mu: GGACACGCGGGGCCA		 ACAT|gcgg
distance from splice site 308
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      242ENRGLKAEMEDMRGQQEREGPGRD
mutated  not conserved    242DTRGQQEREGPGR
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000015761  275DMRGQQEREGLGR
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000052105  594DIRVQHEREGTGR
Ggallus  all identical  ENSGALG00000013357  242DMRCQYEKECLSR
Trubripes  all conserved  ENSTRUG00000008561  264NDDLRCQYERDCFGR
Drerio  all conserved  ENSDARG00000091408  492NEDLRSQYERDCFGR
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
42319COMPBIASPro-rich.lost
330404COILEDPotential.might get lost (downstream of altered splice site)
432432MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
432483COILEDPotential.might get lost (downstream of altered splice site)
513718COILEDPotential.might get lost (downstream of altered splice site)
549549MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
618618MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
621621MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
622622MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
685685MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
749749MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
776776MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
907907MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
923923MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
11431201COILEDPotential.might get lost (downstream of altered splice site)
12381278COILEDPotential.might get lost (downstream of altered splice site)
13851385MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13881388MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
14171417MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
14211421MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
14271427MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
15141514MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
15611561MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
15781578MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
15831583MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
15881588MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
15921592MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
16611661MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
16671667MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
16751675MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
16791679MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
16811681MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
16831683MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
18121812MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
18141814MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4761 / 4761
position (AA) of stopcodon in wt / mu AA sequence 1587 / 1587
position of stopcodon in wt / mu cDNA 4903 / 4903
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 143 / 143
chromosome 18
strand 1
last intron/exon boundary 4922
theoretical NMD boundary in CDS 4729
length of CDS 4761
coding sequence (CDS) position 725
cDNA position
(for ins/del: last normal base / first normal base)		 867
gDNA position
(for ins/del: last normal base / first normal base)		 78177
chromosomal position
(for ins/del: last normal base / first normal base)		 8783835
original gDNA sequence snippet CAAGGCAGAGATGGAGGACATGCGGGGCCAGCAGGAGCGGG
altered gDNA sequence snippet CAAGGCAGAGATGGAGGACACGCGGGGCCAGCAGGAGCGGG
original cDNA sequence snippet CAAGGCAGAGATGGAGGACATGCGGGGCCAGCAGGAGCGGG
altered cDNA sequence snippet CAAGGCAGAGATGGAGGACACGCGGGGCCAGCAGGAGCGGG
wildtype AA sequence MEEMRDSYLE EDVYQLQELR RELDRANKNC RILQYRLRKA EQKSLKVAET GQVDGELIRS
LEQDLKVAKD VSVRLHHELK TVEEKRAKAE DENETLRQQM IEVEISKQAL QNELERLKES
SLKRRSTREM YKEKKTFNQD DSADLRCQLQ FAKEEAFLMR KKMAKLGREK DELEQELQKY
KSLYGDVDSP LPTGEAGGPP STREAELKLR LKLVEEEANI LGRKIVELEV ENRGLKAEME
DMRGQQEREG PGRDHAPSIP TSPFGDSLES STELRRHLQF VEEEAELLRR SISEIEDHNR
QLTHELSKFK FEPPREPGWL GEGASPGAGG GAPLQEELKS ARLQISELSG KVLKLQHENH
ALLSNIQRCD LAAHLGLRAP SPRDSDAESD AGKKESDGEE SRLPQPKREG PVGGESDSEE
MFEKTSGFGS GKPSEASEPC PTELLKARED SEYLVTLKHE AQRLERTVER LITDTDSFLH
DAGLRGGAPL PGPGLQGEEE QGEGDQQEPQ LLGTINAKMK AFKKELQAFL EQVNRIGDGL
SPLPHLTESS SFLSTVTSVS RDSPIGNLGK ELGPDLQSRL KEQLEWQLGP ARGDERESLR
LRAARELHRR ADGDTGSHGL GGQTCFSLEL RGPPVLPEQS VSIEELQGQL VQAARLHQEE
TETFTNKIHK MEEEHLYALR WKELEMHSLA LQNTLHERTW SDEKNLMQQE LRSLKQNIFL
FYVKLRWLLK HWRQGKQMEE EGEEFTEGEH PETLSRLGEL GVQGGHQADG PDHDSDRGCG
FPVGEHSPHS RVQIGDHSLR LQTADRGQPH KQVVENQQLF SAFKALLEDF RAELREDERA
RLRLQQQYAS DKAAWDVEWA VLKCRLEQLE EKTENKLGEL GSSAESKGAL KKEREVHQKL
LADSHSLVMD LRWQIHHSEK NWNREKVELL DRLDRDRQEW ERQKKEFLWR IEQLQKENSP
RRGGSFLCDQ KDGNVRPFPH QGSLRMPRPV AMWPCADADS IPFEDRPLSK LKESDRCSAS
ENLYLDALSL DDEPEEPPAH RPEREFRNRL PEEEENHKGN LQRAVSVSSM SEFQRLMDIS
PFLPEKGLPS TSSKEDVTPP LSPDDLKYIE EFNKSWDYTP NRGHNGGGPD LWADRTEVGR
AGHEDSTEPF PDSSWYLTTS VTMTTDTMTS PEHCQKQPLR SHVLTEQSGL RVLHSPPAVR
RVDSITAAGG EGPFPTSRAR GSPGDTKGGP PEPMLSRWPC TSPRHSRDYV EGARRPLDSP
LCTSLGFASP LHSLEMSKNL SDDMKEVAFS VRNAICSGPG ELQVKDMACQ TNGSRTMGTQ
TVQTISVGLQ TEALRGSGVT SSPHKCLTPK AGGGATPVSS PSRSLRSRQV APAIEKVQAK
FERTCCSPKY GSPKLQRKPL PKADQPNNRT SPGMAQKGYS ESAWARSTTT RESPVHTTIN
DGLSSLFNII DHSPVVQDPF QKGLRAGSRS RSAEPRPELG PGQETGTNSR GRSPSPIGVG
SEMCREEGGE GTPVKQDLSA PPGYTLTENV ARILNKKLLE HALKEERRQA AHGPPGLHSD
SHSLGDTAEP GPMENQTVLL TAPWGL*
mutated AA sequence MEEMRDSYLE EDVYQLQELR RELDRANKNC RILQYRLRKA EQKSLKVAET GQVDGELIRS
LEQDLKVAKD VSVRLHHELK TVEEKRAKAE DENETLRQQM IEVEISKQAL QNELERLKES
SLKRRSTREM YKEKKTFNQD DSADLRCQLQ FAKEEAFLMR KKMAKLGREK DELEQELQKY
KSLYGDVDSP LPTGEAGGPP STREAELKLR LKLVEEEANI LGRKIVELEV ENRGLKAEME
DTRGQQEREG PGRDHAPSIP TSPFGDSLES STELRRHLQF VEEEAELLRR SISEIEDHNR
QLTHELSKFK FEPPREPGWL GEGASPGAGG GAPLQEELKS ARLQISELSG KVLKLQHENH
ALLSNIQRCD LAAHLGLRAP SPRDSDAESD AGKKESDGEE SRLPQPKREG PVGGESDSEE
MFEKTSGFGS GKPSEASEPC PTELLKARED SEYLVTLKHE AQRLERTVER LITDTDSFLH
DAGLRGGAPL PGPGLQGEEE QGEGDQQEPQ LLGTINAKMK AFKKELQAFL EQVNRIGDGL
SPLPHLTESS SFLSTVTSVS RDSPIGNLGK ELGPDLQSRL KEQLEWQLGP ARGDERESLR
LRAARELHRR ADGDTGSHGL GGQTCFSLEL RGPPVLPEQS VSIEELQGQL VQAARLHQEE
TETFTNKIHK MEEEHLYALR WKELEMHSLA LQNTLHERTW SDEKNLMQQE LRSLKQNIFL
FYVKLRWLLK HWRQGKQMEE EGEEFTEGEH PETLSRLGEL GVQGGHQADG PDHDSDRGCG
FPVGEHSPHS RVQIGDHSLR LQTADRGQPH KQVVENQQLF SAFKALLEDF RAELREDERA
RLRLQQQYAS DKAAWDVEWA VLKCRLEQLE EKTENKLGEL GSSAESKGAL KKEREVHQKL
LADSHSLVMD LRWQIHHSEK NWNREKVELL DRLDRDRQEW ERQKKEFLWR IEQLQKENSP
RRGGSFLCDQ KDGNVRPFPH QGSLRMPRPV AMWPCADADS IPFEDRPLSK LKESDRCSAS
ENLYLDALSL DDEPEEPPAH RPEREFRNRL PEEEENHKGN LQRAVSVSSM SEFQRLMDIS
PFLPEKGLPS TSSKEDVTPP LSPDDLKYIE EFNKSWDYTP NRGHNGGGPD LWADRTEVGR
AGHEDSTEPF PDSSWYLTTS VTMTTDTMTS PEHCQKQPLR SHVLTEQSGL RVLHSPPAVR
RVDSITAAGG EGPFPTSRAR GSPGDTKGGP PEPMLSRWPC TSPRHSRDYV EGARRPLDSP
LCTSLGFASP LHSLEMSKNL SDDMKEVAFS VRNAICSGPG ELQVKDMACQ TNGSRTMGTQ
TVQTISVGLQ TEALRGSGVT SSPHKCLTPK AGGGATPVSS PSRSLRSRQV APAIEKVQAK
FERTCCSPKY GSPKLQRKPL PKADQPNNRT SPGMAQKGYS ESAWARSTTT RESPVHTTIN
DGLSSLFNII DHSPVVQDPF QKGLRAGSRS RSAEPRPELG PGQETGTNSR GRSPSPIGVG
SEMCREEGGE GTPVKQDLSA PPGYTLTENV ARILNKKLLE HALKEERRQA AHGPPGLHSD
SHSLGDTAEP GPMENQTVLL TAPWGL*
speed 0.65 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: 0.111954842650821 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr18:8783835T>CN/A show variant in all transcripts   IGV
HGNC symbol MTCL1
Ensembl transcript ID ENST00000400050
Genbank transcript ID N/A
UniProt peptide Q9Y4B5
alteration type single base exchange
alteration region CDS
DNA changes c.725T>C
cDNA.867T>C
g.78177T>C
AA changes M242T Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 242
frameshift no
known variant Reference ID: rs35739383
databasehomozygous (C/C)heterozygousallele carriers
1000G50810461554
ExAC16968-116915799
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.4290.352
5.0990.999
(flanking)1.1851
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased78172wt: 0.9454 / mu: 0.9811 (marginal change - not scored)wt: ATGGAGGACATGCGG
mu: ATGGAGGACACGCGG		 GGAG|gaca
Donor increased78177wt: 0.24 / mu: 0.59wt: GGACATGCGGGGCCA
mu: GGACACGCGGGGCCA		 ACAT|gcgg
distance from splice site 308
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      242ENRGLKAEMEDMRGQQEREGPGRD
mutated  not conserved    242DTRGQQEREGPGR
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000015761  275DMRGQQEREGLGR
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000052105  594DIRVQHEREGTGR
Ggallus  all identical  ENSGALG00000013357  242DMRCQYEKECLSR
Trubripes  all conserved  ENSTRUG00000008561  264NDDLRCQYERDCFGR
Drerio  all conserved  ENSDARG00000091408  492NEDLRSQYERDCFGR
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
42319COMPBIASPro-rich.lost
330404COILEDPotential.might get lost (downstream of altered splice site)
432432MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
432483COILEDPotential.might get lost (downstream of altered splice site)
513718COILEDPotential.might get lost (downstream of altered splice site)
549549MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
618618MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
621621MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
622622MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
685685MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
749749MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
776776MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
907907MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
923923MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
11431201COILEDPotential.might get lost (downstream of altered splice site)
12381278COILEDPotential.might get lost (downstream of altered splice site)
13851385MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13881388MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
14171417MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
14211421MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
14271427MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
15141514MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
15611561MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
15781578MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
15831583MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
15881588MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
15921592MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
16611661MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
16671667MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
16751675MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
16791679MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
16811681MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
16831683MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
18121812MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
18141814MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4638 / 4638
position (AA) of stopcodon in wt / mu AA sequence 1546 / 1546
position of stopcodon in wt / mu cDNA 4780 / 4780
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 143 / 143
chromosome 18
strand 1
last intron/exon boundary 4799
theoretical NMD boundary in CDS 4606
length of CDS 4638
coding sequence (CDS) position 725
cDNA position
(for ins/del: last normal base / first normal base)		 867
gDNA position
(for ins/del: last normal base / first normal base)		 78177
chromosomal position
(for ins/del: last normal base / first normal base)		 8783835
original gDNA sequence snippet CAAGGCAGAGATGGAGGACATGCGGGGCCAGCAGGAGCGGG
altered gDNA sequence snippet CAAGGCAGAGATGGAGGACACGCGGGGCCAGCAGGAGCGGG
original cDNA sequence snippet CAAGGCAGAGATGGAGGACATGCGGGGCCAGCAGGAGCGGG
altered cDNA sequence snippet CAAGGCAGAGATGGAGGACACGCGGGGCCAGCAGGAGCGGG
wildtype AA sequence MEEMRDSYLE EDVYQLQELR RELDRANKNC RILQYRLRKA EQKSLKVAET GQVDGELIRS
LEQDLKVAKD VSVRLHHELK TVEEKRAKAE DENETLRQQM IEVEISKQAL QNELERLKES
SLKRRSTREM YKEKKTFNQD DSADLRCQLQ FAKEEAFLMR KKMAKLGREK DELEQELQKY
KSLYGDVDSP LPTGEAGGPP STREAELKLR LKLVEEEANI LGRKIVELEV ENRGLKAEME
DMRGQQEREG PGRDHAPSIP TSPFGDSLES STELRRHLQF VEEEAELLRR SISEIEDHNR
QLTHELSKFK FEPPREPGWL GEGASPGAGG GAPLQEELKS ARLQISELSG KVLKLQHENH
ALLSNIQRCD LAAHLGLRAP SPRDSDAESD AGKKESDGEE SRLPQPKREG PVGGESDSEE
MFEKTSGFGS GKPSEASEPC PTELLKARED SEYLVTLKHE AQRLERTVER LITDTDSFLH
DAGLRGGAPL PGPGLQGEEE QGEGDQQEPQ LLGTINAKMK AFKKELQAFL EQVNRIGDGL
SPLPHLTESS SFLSTVTSVS RDSPIGNLGK ELGPDLQSRL KEQLEWQLGP ARGDERESLR
LRAARELHRR ADGDTGSHGL GGQTCFSLEM EEEHLYALRW KELEMHSLAL QNTLHERTWS
DEKNLMQQEL RSLKQNIFLF YVKLRWLLKH WRQGKQMEEE GEEFTEGEHP ETLSRLGELG
VQGGHQADGP DHDSDRGCGF PVGEHSPHSR VQIGDHSLRL QTADRGQPHK QVVENQQLFS
AFKALLEDFR AELREDERAR LRLQQQYASD KAAWDVEWAV LKCRLEQLEE KTENKLGELG
SSAESKGALK KEREVHQKLL ADSHSLVMDL RWQIHHSEKN WNREKVELLD RLDRDRQEWE
RQKKEFLWRI EQLQKENSPR RGGSFLCDQK DGNVRPFPHQ GSLRMPRPVA MWPCADADSI
PFEDRPLSKL KESDRCSASE NLYLDALSLD DEPEEPPAHR PEREFRNRLP EEEENHKGNL
QRAVSVSSMS EFQRLMDISP FLPEKGLPST SSKEDVTPPL SPDDLKYIEE FNKSWDYTPN
RGHNGGGPDL WADRTEVGRA GHEDSTEPFP DSSWYLTTSV TMTTDTMTSP EHCQKQPLRS
HVLTEQSGLR VLHSPPAVRR VDSITAAGGE GPFPTSRARG SPGDTKGGPP EPMLSRWPCT
SPRHSRDYVE GARRPLDSPL CTSLGFASPL HSLEMSKNLS DDMKEVAFSV RNAICSGPGE
LQVKDMACQT NGSRTMGTQT VQTISVGLQT EALRGSGVTS SPHKCLTPKA GGGATPVSSP
SRSLRSRQVA PAIEKVQAKF ERTCCSPKYG SPKLQRKPLP KADQPNNRTS PGMAQKGYSE
SAWARSTTTR ESPVHTTIND GLSSLFNIID HSPVVQDPFQ KGLRAGSRSR SAEPRPELGP
GQETGTNSRG RSPSPIGVGS EMCREEGGEG TPVKQDLSAP PGYTLTENVA RILNKKLLEH
ALKEERRQAA HGPPGLHSDS HSLGDTAEPG PMENQTVLLT APWGL*
mutated AA sequence MEEMRDSYLE EDVYQLQELR RELDRANKNC RILQYRLRKA EQKSLKVAET GQVDGELIRS
LEQDLKVAKD VSVRLHHELK TVEEKRAKAE DENETLRQQM IEVEISKQAL QNELERLKES
SLKRRSTREM YKEKKTFNQD DSADLRCQLQ FAKEEAFLMR KKMAKLGREK DELEQELQKY
KSLYGDVDSP LPTGEAGGPP STREAELKLR LKLVEEEANI LGRKIVELEV ENRGLKAEME
DTRGQQEREG PGRDHAPSIP TSPFGDSLES STELRRHLQF VEEEAELLRR SISEIEDHNR
QLTHELSKFK FEPPREPGWL GEGASPGAGG GAPLQEELKS ARLQISELSG KVLKLQHENH
ALLSNIQRCD LAAHLGLRAP SPRDSDAESD AGKKESDGEE SRLPQPKREG PVGGESDSEE
MFEKTSGFGS GKPSEASEPC PTELLKARED SEYLVTLKHE AQRLERTVER LITDTDSFLH
DAGLRGGAPL PGPGLQGEEE QGEGDQQEPQ LLGTINAKMK AFKKELQAFL EQVNRIGDGL
SPLPHLTESS SFLSTVTSVS RDSPIGNLGK ELGPDLQSRL KEQLEWQLGP ARGDERESLR
LRAARELHRR ADGDTGSHGL GGQTCFSLEM EEEHLYALRW KELEMHSLAL QNTLHERTWS
DEKNLMQQEL RSLKQNIFLF YVKLRWLLKH WRQGKQMEEE GEEFTEGEHP ETLSRLGELG
VQGGHQADGP DHDSDRGCGF PVGEHSPHSR VQIGDHSLRL QTADRGQPHK QVVENQQLFS
AFKALLEDFR AELREDERAR LRLQQQYASD KAAWDVEWAV LKCRLEQLEE KTENKLGELG
SSAESKGALK KEREVHQKLL ADSHSLVMDL RWQIHHSEKN WNREKVELLD RLDRDRQEWE
RQKKEFLWRI EQLQKENSPR RGGSFLCDQK DGNVRPFPHQ GSLRMPRPVA MWPCADADSI
PFEDRPLSKL KESDRCSASE NLYLDALSLD DEPEEPPAHR PEREFRNRLP EEEENHKGNL
QRAVSVSSMS EFQRLMDISP FLPEKGLPST SSKEDVTPPL SPDDLKYIEE FNKSWDYTPN
RGHNGGGPDL WADRTEVGRA GHEDSTEPFP DSSWYLTTSV TMTTDTMTSP EHCQKQPLRS
HVLTEQSGLR VLHSPPAVRR VDSITAAGGE GPFPTSRARG SPGDTKGGPP EPMLSRWPCT
SPRHSRDYVE GARRPLDSPL CTSLGFASPL HSLEMSKNLS DDMKEVAFSV RNAICSGPGE
LQVKDMACQT NGSRTMGTQT VQTISVGLQT EALRGSGVTS SPHKCLTPKA GGGATPVSSP
SRSLRSRQVA PAIEKVQAKF ERTCCSPKYG SPKLQRKPLP KADQPNNRTS PGMAQKGYSE
SAWARSTTTR ESPVHTTIND GLSSLFNIID HSPVVQDPFQ KGLRAGSRSR SAEPRPELGP
GQETGTNSRG RSPSPIGVGS EMCREEGGEG TPVKQDLSAP PGYTLTENVA RILNKKLLEH
ALKEERRQAA HGPPGLHSDS HSLGDTAEPG PMENQTVLLT APWGL*
speed 0.63 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: 0.0865730001018312 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr18:8783835T>CN/A show variant in all transcripts   IGV
HGNC symbol MTCL1
Ensembl transcript ID ENST00000306329
Genbank transcript ID N/A
UniProt peptide Q9Y4B5
alteration type single base exchange
alteration region CDS
DNA changes c.1805T>C
cDNA.1805T>C
g.78177T>C
AA changes M602T Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 602
frameshift no
known variant Reference ID: rs35739383
databasehomozygous (C/C)heterozygousallele carriers
1000G50810461554
ExAC16968-116915799
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.4290.352
5.0990.999
(flanking)1.1851
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased78172wt: 0.9454 / mu: 0.9811 (marginal change - not scored)wt: ATGGAGGACATGCGG
mu: ATGGAGGACACGCGG		 GGAG|gaca
Donor increased78177wt: 0.24 / mu: 0.59wt: GGACATGCGGGGCCA
mu: GGACACGCGGGGCCA		 ACAT|gcgg
distance from splice site 308
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      602ENRGLKAEMEDMRGQQEREGPGRD
mutated  not conserved    602DTRGQQEREGPGR
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000015761  275ENRGLKAEMEDMRGQQEREGLGR
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000052105  594DIRVQHEREGTGR
Ggallus  all identical  ENSGALG00000013357  242DMRCQYEKECLSR
Trubripes  all conserved  ENSTRUG00000008561  264ENRSLRAENDDLRCQYERDCFGR
Drerio  all conserved  ENSDARG00000091408  492ENRGLRAENEDLRSQYERDCFGR
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
513718COILEDPotential.lost
618618MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
621621MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
622622MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
685685MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
749749MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
776776MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
907907MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
923923MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
11431201COILEDPotential.might get lost (downstream of altered splice site)
12381278COILEDPotential.might get lost (downstream of altered splice site)
13851385MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13881388MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
14171417MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
14211421MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
14271427MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
15141514MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
15611561MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
15781578MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
15831583MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
15881588MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
15921592MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
16611661MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
16671667MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
16751675MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
16791679MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
16811681MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
16831683MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
18121812MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
18141814MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 5718 / 5718
position (AA) of stopcodon in wt / mu AA sequence 1906 / 1906
position of stopcodon in wt / mu cDNA 5718 / 5718
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 1 / 1
chromosome 18
strand 1
last intron/exon boundary 5680
theoretical NMD boundary in CDS 5629
length of CDS 5718
coding sequence (CDS) position 1805
cDNA position
(for ins/del: last normal base / first normal base)		 1805
gDNA position
(for ins/del: last normal base / first normal base)		 78177
chromosomal position
(for ins/del: last normal base / first normal base)		 8783835
original gDNA sequence snippet CAAGGCAGAGATGGAGGACATGCGGGGCCAGCAGGAGCGGG
altered gDNA sequence snippet CAAGGCAGAGATGGAGGACACGCGGGGCCAGCAGGAGCGGG
original cDNA sequence snippet CAAGGCAGAGATGGAGGACATGCGGGGCCAGCAGGAGCGGG
altered cDNA sequence snippet CAAGGCAGAGATGGAGGACACGCGGGGCCAGCAGGAGCGGG
wildtype AA sequence METLNGPAGG GAPDAKLQPP GQHHRHHHLH PVAERRRLHR APSPARPFLK DLHARPAAPG
PAVPSSGRAP APAAPRSPNL AGKAPPSPGS LAAPGRLSRR SGGVPGAKDK PPPGAGARAA
GGAKAALGSR RAARVAPAEP LSRAGKPPGA EPPSAAAKGR KAKRGSRAPP ARTVGPPTPA
ARIPAVTLAV TSVAGSPARC SRISHTDSSS DLSDCPSEPL SDEQRLLPAA SSDAESGTGS
SDREPPRGAP TPSPAARGAP PGSPEPPALL AAPLAAGACP GGRSIPSGVS GGFAGPGVAE
DVRGRSPPER PVPGTPKEPS LGEQSRLVPA AEEEELLREM EELRSENDYL KDELDELRAE
MEEMRDSYLE EDVYQLQELR RELDRANKNC RILQYRLRKA EQKSLKVAET GQVDGELIRS
LEQDLKVAKD VSVRLHHELK TVEEKRAKAE DENETLRQQM IEVEISKQAL QNELERLKES
SLKRRSTREM YKEKKTFNQD DSADLRCQLQ FAKEEAFLMR KKMAKLGREK DELEQELQKY
KSLYGDVDSP LPTGEAGGPP STREAELKLR LKLVEEEANI LGRKIVELEV ENRGLKAEME
DMRGQQEREG PGRDHAPSIP TSPFGDSLES STELRRHLQF VEEEAELLRR SISEIEDHNR
QLTHELSKFK FEPPREPGWL GEGASPGAGG GAPLQEELKS ARLQISELSG KVLKLQHENH
ALLSNIQRCD LAAHLGLRAP SPRDSDAESD AGKKESDGEE SRLPQPKREG PVGGESDSEE
MFEKTSGFGS GKPSEASEPC PTELLKARED SEYLVTLKHE AQRLERTVER LITDTDSFLH
DAGLRGGAPL PGPGLQGEEE QGEGDQQEPQ LLGTINAKMK AFKKELQAFL EQVNRIGDGL
SPLPHLTESS SFLSTVTSVS RDSPIGNLGK ELGPDLQSRL KEQLEWQLGP ARGDERESLR
LRAARELHRR ADGDTGSHGL GGQTCFSLEM EEEHLYALRW KELEMHSLAL QNTLHERTWS
DEKNLMQQEL RSLKQNIFLF YVKLRWLLKH WRQGKQMEEE GEEFTEGEHP ETLSRLGELG
VQGGHQADGP DHDSDRGCGF PVGEHSPHSR VQIGDHSLRL QTADRGQPHK QVVENQQLFS
AFKALLEDFR AELREDERAR LRLQQQYASD KAAWDVEWAV LKCRLEQLEE KTENKLGELG
SSAESKGALK KEREVHQKLL ADSHSLVMDL RWQIHHSEKN WNREKVELLD RLDRDRQEWE
RQKKEFLWRI EQLQKENSPR RGGSFLCDQK DGNVRPFPHQ GSLRMPRPVA MWPCADADSI
PFEDRPLSKL KESDRCSASE NLYLDALSLD DEPEEPPAHR PEREFRNRLP EEEENHKGNL
QRAVSVSSMS EFQRLMDISP FLPEKGLPST SSKEDVTPPL SPDDLKYIEE FNKSWDYTPN
RGHNGGGPDL WADRTEVGRA GHEDSTEPFP DSSWYLTTSV TMTTDTMTSP EHCQKQPLRS
HVLTEQSGLR VLHSPPAVRR VDSITAAGGE GPFPTSRARG SPGDTKGGPP EPMLSRWPCT
SPRHSRDYVE GARRPLDSPL CTSLGFASPL HSLEMSKNLS DDMKEVAFSV RNAICSGPGE
LQVKDMACQT NGSRTMGTQT VQTISVGLQT EALRGSGVTS SPHKCLTPKA GGGATPVSSP
SRSLRSRQVA PAIEKVQAKF ERTCCSPKYG SPKLQRKPLP KADQPNNRTS PGMAQKGYSE
SAWARSTTTR ESPVHTTIND GLSSLFNIID HSPVVQDPFQ KGLRAGSRSR SAEPRPELGP
GQETGTNSRG RSPSPIGVGS EMCREEGGEG TPVKQDLSAP PGYTLTENVA RILNKKLLEH
ALKEERRQAA HGPPGLHSDS HSLGDTAEPG PMENQTVLLT APWGL*
mutated AA sequence METLNGPAGG GAPDAKLQPP GQHHRHHHLH PVAERRRLHR APSPARPFLK DLHARPAAPG
PAVPSSGRAP APAAPRSPNL AGKAPPSPGS LAAPGRLSRR SGGVPGAKDK PPPGAGARAA
GGAKAALGSR RAARVAPAEP LSRAGKPPGA EPPSAAAKGR KAKRGSRAPP ARTVGPPTPA
ARIPAVTLAV TSVAGSPARC SRISHTDSSS DLSDCPSEPL SDEQRLLPAA SSDAESGTGS
SDREPPRGAP TPSPAARGAP PGSPEPPALL AAPLAAGACP GGRSIPSGVS GGFAGPGVAE
DVRGRSPPER PVPGTPKEPS LGEQSRLVPA AEEEELLREM EELRSENDYL KDELDELRAE
MEEMRDSYLE EDVYQLQELR RELDRANKNC RILQYRLRKA EQKSLKVAET GQVDGELIRS
LEQDLKVAKD VSVRLHHELK TVEEKRAKAE DENETLRQQM IEVEISKQAL QNELERLKES
SLKRRSTREM YKEKKTFNQD DSADLRCQLQ FAKEEAFLMR KKMAKLGREK DELEQELQKY
KSLYGDVDSP LPTGEAGGPP STREAELKLR LKLVEEEANI LGRKIVELEV ENRGLKAEME
DTRGQQEREG PGRDHAPSIP TSPFGDSLES STELRRHLQF VEEEAELLRR SISEIEDHNR
QLTHELSKFK FEPPREPGWL GEGASPGAGG GAPLQEELKS ARLQISELSG KVLKLQHENH
ALLSNIQRCD LAAHLGLRAP SPRDSDAESD AGKKESDGEE SRLPQPKREG PVGGESDSEE
MFEKTSGFGS GKPSEASEPC PTELLKARED SEYLVTLKHE AQRLERTVER LITDTDSFLH
DAGLRGGAPL PGPGLQGEEE QGEGDQQEPQ LLGTINAKMK AFKKELQAFL EQVNRIGDGL
SPLPHLTESS SFLSTVTSVS RDSPIGNLGK ELGPDLQSRL KEQLEWQLGP ARGDERESLR
LRAARELHRR ADGDTGSHGL GGQTCFSLEM EEEHLYALRW KELEMHSLAL QNTLHERTWS
DEKNLMQQEL RSLKQNIFLF YVKLRWLLKH WRQGKQMEEE GEEFTEGEHP ETLSRLGELG
VQGGHQADGP DHDSDRGCGF PVGEHSPHSR VQIGDHSLRL QTADRGQPHK QVVENQQLFS
AFKALLEDFR AELREDERAR LRLQQQYASD KAAWDVEWAV LKCRLEQLEE KTENKLGELG
SSAESKGALK KEREVHQKLL ADSHSLVMDL RWQIHHSEKN WNREKVELLD RLDRDRQEWE
RQKKEFLWRI EQLQKENSPR RGGSFLCDQK DGNVRPFPHQ GSLRMPRPVA MWPCADADSI
PFEDRPLSKL KESDRCSASE NLYLDALSLD DEPEEPPAHR PEREFRNRLP EEEENHKGNL
QRAVSVSSMS EFQRLMDISP FLPEKGLPST SSKEDVTPPL SPDDLKYIEE FNKSWDYTPN
RGHNGGGPDL WADRTEVGRA GHEDSTEPFP DSSWYLTTSV TMTTDTMTSP EHCQKQPLRS
HVLTEQSGLR VLHSPPAVRR VDSITAAGGE GPFPTSRARG SPGDTKGGPP EPMLSRWPCT
SPRHSRDYVE GARRPLDSPL CTSLGFASPL HSLEMSKNLS DDMKEVAFSV RNAICSGPGE
LQVKDMACQT NGSRTMGTQT VQTISVGLQT EALRGSGVTS SPHKCLTPKA GGGATPVSSP
SRSLRSRQVA PAIEKVQAKF ERTCCSPKYG SPKLQRKPLP KADQPNNRTS PGMAQKGYSE
SAWARSTTTR ESPVHTTIND GLSSLFNIID HSPVVQDPFQ KGLRAGSRSR SAEPRPELGP
GQETGTNSRG RSPSPIGVGS EMCREEGGEG TPVKQDLSAP PGYTLTENVA RILNKKLLEH
ALKEERRQAA HGPPGLHSDS HSLGDTAEPG PMENQTVLLT APWGL*
speed 0.67 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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Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 2.71441763198242e-49 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr18:8783835T>CN/A show variant in all transcripts   IGV
HGNC symbol MTCL1
Ensembl transcript ID ENST00000306285
Genbank transcript ID N/A
UniProt peptide Q9Y4B5
alteration type single base exchange
alteration region 5'UTR
DNA changes cDNA.867T>C
g.78177T>C
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs35739383
databasehomozygous (C/C)heterozygousallele carriers
1000G50810461554
ExAC16968-116915799
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.4290.352
5.0990.999
(flanking)1.1851
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change before start ATG (at aa -443) |
effectgDNA positionscoredetection sequence  exon-intron border
Donor marginally increased78172wt: 0.9454 / mu: 0.9811 (marginal change - not scored)wt: ATGGAGGACATGCGG
mu: ATGGAGGACACGCGG		 GGAG|gaca
Donor increased78177wt: 0.24 / mu: 0.59wt: GGACATGCGGGGCCA
mu: GGACACGCGGGGCCA		 ACAT|gcgg
distance from splice site 308
Kozak consensus sequence altered? no
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
42319COMPBIASPro-rich.might get lost (downstream of altered splice site)
54198COMPBIASAla-rich.might get lost (downstream of altered splice site)
8787MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
330404COILEDPotential.might get lost (downstream of altered splice site)
432432MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
432483COILEDPotential.might get lost (downstream of altered splice site)
513718COILEDPotential.might get lost (downstream of altered splice site)
549549MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
618618MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
621621MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
622622MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
685685MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
749749MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
776776MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
907907MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
923923MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
11431201COILEDPotential.might get lost (downstream of altered splice site)
12381278COILEDPotential.might get lost (downstream of altered splice site)
13851385MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13881388MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
14171417MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
14211421MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
14271427MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
15141514MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
15611561MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
15781578MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
15831583MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
15881588MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
15921592MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
16611661MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
16671667MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
16751675MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
16791679MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
16811681MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
16831683MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
18121812MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
18141814MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
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 2198 / 2198
chromosome 18
strand 1
last intron/exon boundary 4895
theoretical NMD boundary in CDS 2647
length of CDS 2931
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 867
gDNA position
(for ins/del: last normal base / first normal base)		 78177
chromosomal position
(for ins/del: last normal base / first normal base)		 8783835
original gDNA sequence snippet CAAGGCAGAGATGGAGGACATGCGGGGCCAGCAGGAGCGGG
altered gDNA sequence snippet CAAGGCAGAGATGGAGGACACGCGGGGCCAGCAGGAGCGGG
original cDNA sequence snippet CAAGGCAGAGATGGAGGACATGCGGGGCCAGCAGGAGCGGG
altered cDNA sequence snippet CAAGGCAGAGATGGAGGACACGCGGGGCCAGCAGGAGCGGG
wildtype AA sequence MHSLALQNTL HERTWSDEKN LMQQELRSLK QNIFLFYVKL RWLLKHWRQG KQMEEEGEEF
TEGEHPETLS RLGELGVQGG HQADGPDHDS DRGCGFPVGE HSPHSRVQIG DHSLRLQTAD
RGQPHKQVVE NQQLFSAFKA LLEDFRAELR EDERARLRLQ QQYASDKAAW DVEWAVLKCR
LEQNCCGYPR INIEEETLGF TRLPAGSTVK TLKSLGLQRL ELEEKTENKL GELGSSAESK
GALKKEREVH QKLLADSHSL VMDLRWQIHH SEKNWNREKV ELLDRLDRDR QEWERQKKEF
LWRIEQGSLR MPRPVAMWPC ADADSIPFED RPLSKLKESD RCSASENLYL DALSLDDEPE
EPPAHRPERE FRNRLPEEEE NHKGNLQRAV SVSSMSEFQR LMDISPFLPE KGLPSTSSKE
DVTPPLSPDD LKYIEEFNKS WDYTPNRGHN GGGPDLWADR TEVGRAGHED STEPFPDSSW
YLTTSVTMTT DTMTSPEHCQ KQPLRSHVLT EQSGLRVLHS PPAVRRVDSI TAAGGEGPFP
TSRARGSPGD TKGGPPEPML SRWPCTSPRH SRDYVEGARR PLDSPLCTSL GFASPLHSLE
MSKNLSDDMK EVAFSVRNAI CSGPGELQVK DMACQTNGSR TMGTQTVQTI SVGLQTEALR
GSGVTSSPHK CLTPKAGGGA TPVSSPSRSL RSRQVAPAIE KVQAKFERTC CSPKYGSPKL
QRKPLPKADQ PNNRTSPGMA QKGYSESAWA RSTTTRESPV HTTINDGLSS LFNIIDHSPV
VQDPFQKGLR AGSRSRSAEP RPELGPGQET GTNSRGRSPS PIGVGSEMCR EEGGEGTPVK
QDLSAPPGYT LTENVARILN KKLLEHALKE ERRQAAHGPP GLHSDSHSLG DTAEPGPMEE
LPCSALAPSL EPCFSRPERP ANRRPPSRWA PHSPTASQPQ SPGDPTSLEE HGGEEPPEEQ
PHRDASLHGL SQYNSL*
mutated AA sequence N/A
speed 0.75 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
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Problems