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 3 transcript(s)...
Querying Taster for transcript #1: ENST00000400606
Querying Taster for transcript #2: ENST00000540035
Querying Taster for transcript #3: ENST00000581619
MT speed 0 s - this script 2.944713 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
CLUL1polymorphism_automatic3.99680288865056e-15simple_aaeaffectedN22Dsingle base exchangers8086356show file
CLUL1polymorphism_automatic1.13203138973894e-07without_aaeaffectedsingle base exchangers8086356show file
CLUL1polymorphism_automatic1.13203138973894e-07without_aaeaffectedsingle base exchangers8086356show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999996 (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) chr18:613202A>GN/A show variant in all transcripts   IGV
HGNC symbol CLUL1
Ensembl transcript ID ENST00000540035
Genbank transcript ID N/A
UniProt peptide Q15846
alteration type single base exchange
alteration region CDS
DNA changes c.64A>G
cDNA.273A>G
g.16215A>G
AA changes N22D Score: 23 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 22
frameshift no
known variant Reference ID: rs8086356
databasehomozygous (G/G)heterozygousallele carriers
1000G1699731142
ExAC58434492
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.9950.021
-0.9470.023
(flanking)0.1870.033
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained162090.69mu: TGCACTGCTGCGATC CACT|gctg
distance from splice site 44
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      22ALVAQTGVHCCNLSSLQPLPPRFK
mutated  all conserved    22ALVAQTGVHCCDLSSLQPLPPRF
Ptroglodytes  all conserved  ENSPTRG00000009820  22ALVAQAGVHCCDLSSLQPLPPRF
Mmulatta  no alignment  ENSMMUG00000004045  n/a
Fcatus  no alignment  ENSFCAG00000009228  n/a
Mmusculus  no homologue    
Ggallus  no alignment  ENSGALG00000014904  n/a
Trubripes  no alignment  ENSTRUG00000009690  n/a
Drerio  no alignment  ENSDARG00000055595  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
120SIGNALPotential.might get lost (downstream of altered splice site)
57111COILEDPotential.might get lost (downstream of altered splice site)
105105DISULFIDBy similarity.might get lost (downstream of altered splice site)
116116DISULFIDBy similarity.might get lost (downstream of altered splice site)
119119DISULFIDBy similarity.might get lost (downstream of altered splice site)
124124DISULFIDBy similarity.might get lost (downstream of altered splice site)
131131DISULFIDBy similarity.might get lost (downstream of altered splice site)
196196CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
257257CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
305305DISULFIDBy similarity.might get lost (downstream of altered splice site)
311311CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
315315DISULFIDBy similarity.might get lost (downstream of altered splice site)
322322DISULFIDBy similarity.might get lost (downstream of altered splice site)
325325DISULFIDBy similarity.might get lost (downstream of altered splice site)
333333DISULFIDBy similarity.might get lost (downstream of altered splice site)
351351CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
412412CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
431431CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1557 / 1557
position (AA) of stopcodon in wt / mu AA sequence 519 / 519
position of stopcodon in wt / mu cDNA 1766 / 1766
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 210 / 210
chromosome 18
strand 1
last intron/exon boundary 1763
theoretical NMD boundary in CDS 1503
length of CDS 1557
coding sequence (CDS) position 64
cDNA position
(for ins/del: last normal base / first normal base)		 273
gDNA position
(for ins/del: last normal base / first normal base)		 16215
chromosomal position
(for ins/del: last normal base / first normal base)		 613202
original gDNA sequence snippet AGACTGGAGTGCACTGCTGCAATCTCAGCTCACTGCAACCT
altered gDNA sequence snippet AGACTGGAGTGCACTGCTGCGATCTCAGCTCACTGCAACCT
original cDNA sequence snippet AGACTGGAGTGCACTGCTGCAATCTCAGCTCACTGCAACCT
altered cDNA sequence snippet AGACTGGAGTGCACTGCTGCGATCTCAGCTCACTGCAACCT
wildtype AA sequence MRTWDYRWSL ALVAQTGVHC CNLSSLQPLP PRFKRFSCLS LSSGWDYSNS GNMKPPLLVF
IVCLLWLKDS HCAPTWKDKT AISENLKSFS EVGEIDADEE VKKALTGIKQ MKIMMERKEK
EHTNLMSTLK KCREEKQEAL KLLNEVQEHL EEEERLCRES LADSWGECRS CLENNCMRIY
TTCQPSWSSV KNKIERFFRK IYQFLFPFHE DNEKDLPISE KLIEEDAQLT QMEDVFSQLT
VDVNSLFNRS FNVFRQMQQE FDQTFQSHFI SDTDLTEPYF FPAFSKEPMT KADLEQCWDI
PNFFQLFCNF SVSIYESVSE TITKMLKAIE DLPKQDKAPD HGGLISKMLP GQDRGLCGEL
DQNLSRCFKF HEKCQKCQAH LSEDCPDVPA LHTELDEAIR LVNVSNQQYG QILQMTRKHL
EDTAYLVEKM RGQFGWVSEL ANQAPETEII FNSIQVVPRI HEGNISKQDE TMMTDLSILP
SSNFTLKIPL EESAESSNFI GYVVAKALQH FKEHFKTW*
mutated AA sequence MRTWDYRWSL ALVAQTGVHC CDLSSLQPLP PRFKRFSCLS LSSGWDYSNS GNMKPPLLVF
IVCLLWLKDS HCAPTWKDKT AISENLKSFS EVGEIDADEE VKKALTGIKQ MKIMMERKEK
EHTNLMSTLK KCREEKQEAL KLLNEVQEHL EEEERLCRES LADSWGECRS CLENNCMRIY
TTCQPSWSSV KNKIERFFRK IYQFLFPFHE DNEKDLPISE KLIEEDAQLT QMEDVFSQLT
VDVNSLFNRS FNVFRQMQQE FDQTFQSHFI SDTDLTEPYF FPAFSKEPMT KADLEQCWDI
PNFFQLFCNF SVSIYESVSE TITKMLKAIE DLPKQDKAPD HGGLISKMLP GQDRGLCGEL
DQNLSRCFKF HEKCQKCQAH LSEDCPDVPA LHTELDEAIR LVNVSNQQYG QILQMTRKHL
EDTAYLVEKM RGQFGWVSEL ANQAPETEII FNSIQVVPRI HEGNISKQDE TMMTDLSILP
SSNFTLKIPL EESAESSNFI GYVVAKALQH FKEHFKTW*
speed 0.80 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: without_aae, prob: 0.999999886796861 (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) chr18:613202A>GN/A show variant in all transcripts   IGV
HGNC symbol CLUL1
Ensembl transcript ID ENST00000400606
Genbank transcript ID NM_014410
UniProt peptide Q15846
alteration type single base exchange
alteration region intron
DNA changes g.16215A>G
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs8086356
databasehomozygous (G/G)heterozygousallele carriers
1000G1699731142
ExAC58434492
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.9950.021
-0.9470.023
(flanking)0.1870.033
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change before start ATG (at aa -3) |
effectgDNA positionscoredetection sequence  exon-intron border
Donor gained162090.69mu: TGCACTGCTGCGATC CACT|gctg
distance from splice site 4786
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
120SIGNALPotential.might get lost (downstream of altered splice site)
57111COILEDPotential.might get lost (downstream of altered splice site)
105105DISULFIDBy similarity.might get lost (downstream of altered splice site)
116116DISULFIDBy similarity.might get lost (downstream of altered splice site)
119119DISULFIDBy similarity.might get lost (downstream of altered splice site)
124124DISULFIDBy similarity.might get lost (downstream of altered splice site)
131131DISULFIDBy similarity.might get lost (downstream of altered splice site)
196196CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
257257CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
305305DISULFIDBy similarity.might get lost (downstream of altered splice site)
311311CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
315315DISULFIDBy similarity.might get lost (downstream of altered splice site)
322322DISULFIDBy similarity.might get lost (downstream of altered splice site)
325325DISULFIDBy similarity.might get lost (downstream of altered splice site)
333333DISULFIDBy similarity.might get lost (downstream of altered splice site)
351351CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
412412CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
431431CARBOHYDN-linked (GlcNAc...) (Potential).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 146 / 146
chromosome 18
strand 1
last intron/exon boundary 1543
theoretical NMD boundary in CDS 1347
length of CDS 1401
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 16215
chromosomal position
(for ins/del: last normal base / first normal base)		 613202
original gDNA sequence snippet AGACTGGAGTGCACTGCTGCAATCTCAGCTCACTGCAACCT
altered gDNA sequence snippet AGACTGGAGTGCACTGCTGCGATCTCAGCTCACTGCAACCT
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MKPPLLVFIV CLLWLKDSHC APTWKDKTAI SENLKSFSEV GEIDADEEVK KALTGIKQMK
IMMERKEKEH TNLMSTLKKC REEKQEALKL LNEVQEHLEE EERLCRESLA DSWGECRSCL
ENNCMRIYTT CQPSWSSVKN KIERFFRKIY QFLFPFHEDN EKDLPISEKL IEEDAQLTQM
EDVFSQLTVD VNSLFNRSFN VFRQMQQEFD QTFQSHFISD TDLTEPYFFP AFSKEPMTKA
DLEQCWDIPN FFQLFCNFSV SIYESVSETI TKMLKAIEDL PKQDKAPDHG GLISKMLPGQ
DRGLCGELDQ NLSRCFKFHE KCQKCQAHLS EDCPDVPALH TELDEAIRLV NVSNQQYGQI
LQMTRKHLED TAYLVEKMRG QFGWVSELAN QAPETEIIFN SIQVVPRIHE GNISKQDETM
MTDLSILPSS NFTLKIPLEE SAESSNFIGY VVAKALQHFK EHFKTW*
mutated AA sequence N/A
speed 0.29 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: without_aae, prob: 0.999999886796861 (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) chr18:613202A>GN/A show variant in all transcripts   IGV
HGNC symbol CLUL1
Ensembl transcript ID ENST00000581619
Genbank transcript ID N/A
UniProt peptide Q15846
alteration type single base exchange
alteration region intron
DNA changes g.16215A>G
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs8086356
databasehomozygous (G/G)heterozygousallele carriers
1000G1699731142
ExAC58434492
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.9950.021
-0.9470.023
(flanking)0.1870.033
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained162090.69mu: TGCACTGCTGCGATC CACT|gctg
distance from splice site 4786
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
57111COILEDPotential.might get lost (downstream of altered splice site)
105105DISULFIDBy similarity.might get lost (downstream of altered splice site)
116116DISULFIDBy similarity.might get lost (downstream of altered splice site)
119119DISULFIDBy similarity.might get lost (downstream of altered splice site)
124124DISULFIDBy similarity.might get lost (downstream of altered splice site)
131131DISULFIDBy similarity.might get lost (downstream of altered splice site)
196196CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
257257CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
305305DISULFIDBy similarity.might get lost (downstream of altered splice site)
311311CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
315315DISULFIDBy similarity.might get lost (downstream of altered splice site)
322322DISULFIDBy similarity.might get lost (downstream of altered splice site)
325325DISULFIDBy similarity.might get lost (downstream of altered splice site)
333333DISULFIDBy similarity.might get lost (downstream of altered splice site)
351351CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
412412CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
431431CARBOHYDN-linked (GlcNAc...) (Potential).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 848 / 848
chromosome 18
strand 1
last intron/exon boundary 2132
theoretical NMD boundary in CDS 1234
length of CDS 1476
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 16215
chromosomal position
(for ins/del: last normal base / first normal base)		 613202
original gDNA sequence snippet AGACTGGAGTGCACTGCTGCAATCTCAGCTCACTGCAACCT
altered gDNA sequence snippet AGACTGGAGTGCACTGCTGCGATCTCAGCTCACTGCAACCT
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MNSMEAAVGT EVPLLDNLQH CNSGNMKPPL LVFIVCLLWL KDSHCAPTWK DKTAISENLK
SFSEVGEIDA DEEVKKALTG IKQMKIMMER KEKEHTNLMS TLKKCREEKQ EALKLLNEVQ
EHLEEEERLC RESLADSWGE CRSCLENNCM RIYTTCQPSW SSVKNKIERF FRKIYQFLFP
FHEDNEKDLP ISEKLIEEDA QLTQMEDVFS QLTVDVNSLF NRSFNVFRQM QQEFDQTFQS
HFISDTDLTE PYFFPAFSKE PMTKADLEQC WDIPNFFQLF CNFSVSIYES VSETITKMLK
AIEDLPKQDK APDHGGLISK MLPGQDRGLC GELDQNLSRC FKFHEKCQKC QAHLSEDCPD
VPALHTELDE AIRLVNVSNQ QYGQILQMTR KHLEDTAYLV EKMRGQFGWV SELANQAPET
EIIFNSIQVV PRIHEGNISK QDETMMTDLS ILPSSNFTLK IPLEESAESS NFIGYVVAKA
LQHFKEHFKT W*
mutated AA sequence N/A
speed 0.16 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

Problems