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 2 transcript(s)...
Querying Taster for transcript #1: ENST00000371532
Querying Taster for transcript #2: ENST00000371528
MT speed 3.07 s - this script 5.831458 s

Results


genesymbolpredictionprobabilitymodelprediction
problem
splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
ZYG11Apolymorphism_automatic1.30128200640511e-05simple_aaeaffectedE76Dsingle base exchangers480299show file
ZYG11Apolymorphism_automatic1without_aaeaffectedsingle base exchangers480299show file

Taster files

Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999986987179936 (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) chr1:53320274G>TN/A show variant in all transcripts   IGV
HGNC symbol ZYG11A
Ensembl transcript ID ENST00000371528
Genbank transcript ID NM_001004339
UniProt peptide Q6WRX3
alteration type single base exchange
alteration region CDS
DNA changes c.228G>T
cDNA.376G>T
g.12092G>T
AA changes E76D Score: 45 explain score(s)
position(s) of altered AA
if AA alteration in CDS
76
frameshift no
known variant Reference ID: rs480299
databasehomozygous (T/T)heterozygousallele carriers
1000G10149231937
ExAC487549129787
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.7181
0.1440.997
(flanking)3.0051
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc gained121030.50mu: AGTAGCCGATCGATTTCTCAGGGTGATGACTTGGCAAGGTA tcag|GGTG
distance from splice site 29
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      76PEHWSFPQEVAERFLRVMTWQGKL
mutated  all conserved    76PEHWSFPQEVADRFLRVMTWQGK
Ptroglodytes  all conserved  ENSPTRG00000030596  76PEHWSFPQEVADRFLRVMTWQGK
Mmulatta  no alignment  ENSMMUG00000032121  n/a
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000034645  74PEHWYFPHEIADKFLERMAWQGK
Ggallus  all conserved  ENSGALG00000010643  46QEPGMFPQEVADRLLQTMAFHGL
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no alignment  C08B11.1  n/a
Xtropicalis  all conserved  ENSXETG00000008064  54QDAAIFPQEVADRLLQAMAVQRQ
protein features
start (aa)end (aa)featuredetails 
204227REPEATLRR 1.might get lost (downstream of altered splice site)
235260REPEATLRR 2.might get lost (downstream of altered splice site)
490513REPEATLRR 3.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2280 / 2280
position (AA) of stopcodon in wt / mu AA sequence 760 / 760
position of stopcodon in wt / mu cDNA 2428 / 2428
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 149 / 149
chromosome 1
strand 1
last intron/exon boundary 2253
theoretical NMD boundary in CDS 2054
length of CDS 2280
coding sequence (CDS) position 228
cDNA position
(for ins/del: last normal base / first normal base)
376
gDNA position
(for ins/del: last normal base / first normal base)
12092
chromosomal position
(for ins/del: last normal base / first normal base)
53320274
original gDNA sequence snippet TTCCCTCAGGAAGTAGCCGAGCGATTTCTCAGGGTGATGAC
altered gDNA sequence snippet TTCCCTCAGGAAGTAGCCGATCGATTTCTCAGGGTGATGAC
original cDNA sequence snippet TTCCCTCAGGAAGTAGCCGAGCGATTTCTCAGGGTGATGAC
altered cDNA sequence snippet TTCCCTCAGGAAGTAGCCGATCGATTTCTCAGGGTGATGAC
wildtype AA sequence MVHFLHPGHT PRNIVPPDAQ KDALGCCVVQ EEASPYTLVN ICLNVLIANL EKLCSERPDG
TLCLPEHWSF PQEVAERFLR VMTWQGKLTD RTASIFRGNQ MKLKLVNIQK AKISTAAFIK
AFCRHKLIEL NATAVHADLP VPDIISGLCS NRWIQQNLQC LLLDSTSIPQ NSRLLFFSQL
TGLRILSVFN VCFHTEDLAN VSQLPRLESL DISNTLVTDI SALLTCKDRL KSLTMHYLKC
LAMTKSQILA VIRELKCLLH LDISDHRQLK SDLAFHLLQQ KDILPNVVSL DISGGNCITD
EAVELFIRLR PAMQFVGLLA TDAGSSDFFT TKQGLRVAGG ASMSQISEAL SRYRNRSCFV
KEALHRLFTE TFSMEVTMPA ILKLVAIGMR NHPLDLRVQF TASACALNLT RQGLAKGMPV
RLLSEVTCLL FKALKNFPHY QQLQKNCLLS LTNSRILVDV PFDRFDAAKF VMRWLCKHEN
PKMQTMAVSV TSILALQLSP EQTAQLEELF MAVKELLAIV KQKTTENLDD VTFLFTLKAL
WNLTDGSPAA CKHFIENQGL QIFIQVLETF SESAIQSKVL GLLNNIAEVR ELSSKLVTED
VLKHINSLLC SREMEVSYFA AGIIAHLTSD RQLWISRDFQ RRTLLQDLHA TIQNWPSSSC
KMTALVTYRS FKTFFPLLGN FSQPEVQLWA LWAMYHVCSK NPSKYCKMLV EEEGLQLLCD
IQEHSEATPK AQQIAASILD DFRMHFMNYQ RPTLCQMPF*
mutated AA sequence MVHFLHPGHT PRNIVPPDAQ KDALGCCVVQ EEASPYTLVN ICLNVLIANL EKLCSERPDG
TLCLPEHWSF PQEVADRFLR VMTWQGKLTD RTASIFRGNQ MKLKLVNIQK AKISTAAFIK
AFCRHKLIEL NATAVHADLP VPDIISGLCS NRWIQQNLQC LLLDSTSIPQ NSRLLFFSQL
TGLRILSVFN VCFHTEDLAN VSQLPRLESL DISNTLVTDI SALLTCKDRL KSLTMHYLKC
LAMTKSQILA VIRELKCLLH LDISDHRQLK SDLAFHLLQQ KDILPNVVSL DISGGNCITD
EAVELFIRLR PAMQFVGLLA TDAGSSDFFT TKQGLRVAGG ASMSQISEAL SRYRNRSCFV
KEALHRLFTE TFSMEVTMPA ILKLVAIGMR NHPLDLRVQF TASACALNLT RQGLAKGMPV
RLLSEVTCLL FKALKNFPHY QQLQKNCLLS LTNSRILVDV PFDRFDAAKF VMRWLCKHEN
PKMQTMAVSV TSILALQLSP EQTAQLEELF MAVKELLAIV KQKTTENLDD VTFLFTLKAL
WNLTDGSPAA CKHFIENQGL QIFIQVLETF SESAIQSKVL GLLNNIAEVR ELSSKLVTED
VLKHINSLLC SREMEVSYFA AGIIAHLTSD RQLWISRDFQ RRTLLQDLHA TIQNWPSSSC
KMTALVTYRS FKTFFPLLGN FSQPEVQLWA LWAMYHVCSK NPSKYCKMLV EEEGLQLLCD
IQEHSEATPK AQQIAASILD DFRMHFMNYQ RPTLCQMPF*
speed 1.79 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: 6.46292846512261e-18 (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) chr1:53320274G>TN/A show variant in all transcripts   IGV
HGNC symbol ZYG11A
Ensembl transcript ID ENST00000371532
Genbank transcript ID N/A
UniProt peptide Q6WRX3
alteration type single base exchange
alteration region 5'UTR
DNA changes cDNA.601G>T
g.12092G>T
AA changes N/A
position(s) of altered AA
if AA alteration in CDS
N/A
frameshift N/A
known variant Reference ID: rs480299
databasehomozygous (T/T)heterozygousallele carriers
1000G10149231937
ExAC487549129787
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.7181
0.1440.997
(flanking)3.0051
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change before start ATG (at aa -11) |
effectgDNA positionscoredetection sequence  exon-intron border
Acc gained121030.50mu: AGTAGCCGATCGATTTCTCAGGGTGATGACTTGGCAAGGTA tcag|GGTG
distance from splice site 29
Kozak consensus sequence altered? no
conservation
protein level for non-synonymous changes
N/A
protein features
start (aa)end (aa)featuredetails 
204227REPEATLRR 1.might get lost (downstream of altered splice site)
235260REPEATLRR 2.might get lost (downstream of altered splice site)
490513REPEATLRR 3.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 648 / 648
chromosome 1
strand 1
last intron/exon boundary 1726
theoretical NMD boundary in CDS 1028
length of CDS 1254
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)
601
gDNA position
(for ins/del: last normal base / first normal base)
12092
chromosomal position
(for ins/del: last normal base / first normal base)
53320274
original gDNA sequence snippet TTCCCTCAGGAAGTAGCCGAGCGATTTCTCAGGGTGATGAC
altered gDNA sequence snippet TTCCCTCAGGAAGTAGCCGATCGATTTCTCAGGGTGATGAC
original cDNA sequence snippet TTCCCTCAGGAAGTAGCCGAGCGATTTCTCAGGGTGATGAC
altered cDNA sequence snippet TTCCCTCAGGAAGTAGCCGATCGATTTCTCAGGGTGATGAC
wildtype AA sequence MSQISEALSR YRNRSCFVKE ALHRLFTETF SMEVTMPAIL KLVAIGMRNH PLDLRVQFTA
SACALNLTRQ GLAKGMPVRL LSEVTCLLFK ALKNFPHYQQ LQKNCLLSLT NSRILVDVPF
DRFDAAKFVM RWLCKHENPK MQTMAVSVTS ILALQLSPEQ TAQLEELFMA VKELLAIVKQ
KTTENLDDVT FLFTLKALWN LTDGSPAACK HFIENQGLQI FIQVLETFSE SAIQSKVLGL
LNNIAEVREL SSKLVTEDVL KHINSLLCSR EMEVSYFAAG IIAHLTSDRQ LWISRDFQRR
TLLQDLHATI QNWPSSSCKM TALVTYRSFK TFFPLLGNFS QPEVQLWALW AMYHVCSKNP
SKYCKMLVEE EGLQLLCDIQ EHSEATPKAQ QIAASILDDF RMHFMNYQRP TLCQMPF*
mutated AA sequence N/A
speed 1.28 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