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: ENST00000361852
Querying Taster for transcript #2: ENST00000369805
Querying Taster for transcript #3: ENST00000361965
MT speed 4.42 s - this script 8.556707 s

Results


genesymbolpredictionprobabilitymodelprediction
problem
splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
EPS8L3polymorphism_automatic2.75945189498472e-06simple_aaeaffectedP356Ssingle base exchangers11102001show file
EPS8L3polymorphism_automatic2.75945189498472e-06simple_aaeaffectedP357Ssingle base exchangers11102001show file
EPS8L3polymorphism_automatic2.75945189498472e-06simple_aaeaffectedP356Ssingle base exchangers11102001show file

Taster files

Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999997240548105 (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) chr1:110299691G>AN/A show variant in all transcripts   IGV
HGNC symbol EPS8L3
Ensembl transcript ID ENST00000361852
Genbank transcript ID NM_024526
UniProt peptide Q8TE67
alteration type single base exchange
alteration region CDS
DNA changes c.1066C>T
cDNA.1193C>T
g.6959C>T
AA changes P356S Score: 74 explain score(s)
position(s) of altered AA
if AA alteration in CDS
356
frameshift no
known variant Reference ID: rs11102001
databasehomozygous (A/A)heterozygousallele carriers
1000G125537662
ExAC1180953710717
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.0160.093
1.3270.116
(flanking)0.3060.113
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased6964wt: 0.28 / mu: 0.40wt: CAGTCCTGTCTAAGCCCACCTGAGAGTAACCTTTGGATGGG
mu: CAGTCCTGTCTAAGCTCACCTGAGAGTAACCTTTGGATGGG
 acct|GAGA
distance from splice site 53
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      356KAINLLQSCLSPPESNLWMGLGPA
mutated  not conserved    356KAINLLQSCLSSPESN
Ptroglodytes  all identical  ENSPTRG00000001065  357KAINLLQSCLSPPES
Mmulatta  all identical  ENSMMUG00000008030  358KAINLLQSCLSPPE
Fcatus  all identical  ENSFCAG00000015600  385KAIDLLQSCLSPQESDFWKGLGV
Mmusculus  all identical  ENSMUSG00000040600  365SCLSPPEDTLWKSLGT
Ggallus  no homologue    
Trubripes  not conserved  ENSTRUG00000006845  380GALQLLSVTTSNEEKQLWGSLGD
Drerio  all identical  ENSDARG00000077296  408ECVVFLSEEATPEEDHLWQSLGD
Dmelanogaster  not conserved  FBgn0029095  465EAINLLINCVTSKETELWRSLGD
Celegans  not conserved  Y57G11C.24  413EARELMQNCLTS
Xtropicalis  not conserved  ENSXETG00000002019  359SSCVTDKERKFWESLGD
protein features
start (aa)end (aa)featuredetails 
450509DOMAINSH3.might get lost (downstream of altered splice site)
453459STRANDmight get lost (downstream of altered splice site)
465468STRANDmight get lost (downstream of altered splice site)
476481STRANDmight get lost (downstream of altered splice site)
483490STRANDmight get lost (downstream of altered splice site)
496500STRANDmight get lost (downstream of altered splice site)
501503HELIXmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1692 / 1692
position (AA) of stopcodon in wt / mu AA sequence 564 / 564
position of stopcodon in wt / mu cDNA 1819 / 1819
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 128 / 128
chromosome 1
strand -1
last intron/exon boundary 1808
theoretical NMD boundary in CDS 1630
length of CDS 1692
coding sequence (CDS) position 1066
cDNA position
(for ins/del: last normal base / first normal base)
1193
gDNA position
(for ins/del: last normal base / first normal base)
6959
chromosomal position
(for ins/del: last normal base / first normal base)
110299691
original gDNA sequence snippet TGCTACAGTCCTGTCTAAGCCCACCTGAGAGTAACCTTTGG
altered gDNA sequence snippet TGCTACAGTCCTGTCTAAGCTCACCTGAGAGTAACCTTTGG
original cDNA sequence snippet TGCTACAGTCCTGTCTAAGCCCACCTGAGAGTAACCTTTGG
altered cDNA sequence snippet TGCTACAGTCCTGTCTAAGCTCACCTGAGAGTAACCTTTGG
wildtype AA sequence MSRPSSRAIY LHRKEYSQNL TSEPTLLQHR VEHLMTCKQG SQRVQGPEDA LQKLFEMDAQ
GRVWSQDLIL QVRDGWLQLL DIETKEELDS YRLDSIQAMN VALNTCSYNS ILSITVQEPG
LPGTSTLLFQ CQEVGAERLK TSLQKALEEE LEQRPRLGGL QPGQDRWRGP AMERPLPMEQ
ARYLEPGIPP EQPHQRTLEH SLPPSPRPLP RHTSAREPSA FTLPPPRRSS SPEDPERDEE
VLNHVLRDIE LFMGKLEKAQ AKTSRKKKFG KKNKDQGGLT QAQYIDCFQK IKHSFNLLGR
LATWLKETSA PELVHILFKS LNFILARCPE AGLAAQVISP LLTPKAINLL QSCLSPPESN
LWMGLGPAWT TSRADWTGDE PLPYQPTFSD DWQLPEPSSQ APLGYQDPVS LRPSSPKPAQ
PALKMQVLYE FEARNPRELT VVQGEKLEVL DHSKRWWLVK NEAGRSGYIP SNILEPLQPG
TPGTQGQSPS RVPMLRLSSR PEEVTDWLQA ENFSTATVRT LGSLTGSQLL RIRPGELQML
CPQEAPRILS RLEAVRRMLG ISP*
mutated AA sequence MSRPSSRAIY LHRKEYSQNL TSEPTLLQHR VEHLMTCKQG SQRVQGPEDA LQKLFEMDAQ
GRVWSQDLIL QVRDGWLQLL DIETKEELDS YRLDSIQAMN VALNTCSYNS ILSITVQEPG
LPGTSTLLFQ CQEVGAERLK TSLQKALEEE LEQRPRLGGL QPGQDRWRGP AMERPLPMEQ
ARYLEPGIPP EQPHQRTLEH SLPPSPRPLP RHTSAREPSA FTLPPPRRSS SPEDPERDEE
VLNHVLRDIE LFMGKLEKAQ AKTSRKKKFG KKNKDQGGLT QAQYIDCFQK IKHSFNLLGR
LATWLKETSA PELVHILFKS LNFILARCPE AGLAAQVISP LLTPKAINLL QSCLSSPESN
LWMGLGPAWT TSRADWTGDE PLPYQPTFSD DWQLPEPSSQ APLGYQDPVS LRPSSPKPAQ
PALKMQVLYE FEARNPRELT VVQGEKLEVL DHSKRWWLVK NEAGRSGYIP SNILEPLQPG
TPGTQGQSPS RVPMLRLSSR PEEVTDWLQA ENFSTATVRT LGSLTGSQLL RIRPGELQML
CPQEAPRILS RLEAVRRMLG ISP*
speed 1.53 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: 0.999997240548105 (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) chr1:110299691G>AN/A show variant in all transcripts   IGV
HGNC symbol EPS8L3
Ensembl transcript ID ENST00000369805
Genbank transcript ID NM_139053
UniProt peptide Q8TE67
alteration type single base exchange
alteration region CDS
DNA changes c.1069C>T
cDNA.1299C>T
g.6959C>T
AA changes P357S Score: 74 explain score(s)
position(s) of altered AA
if AA alteration in CDS
357
frameshift no
known variant Reference ID: rs11102001
databasehomozygous (A/A)heterozygousallele carriers
1000G125537662
ExAC1180953710717
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.0160.093
1.3270.116
(flanking)0.3060.113
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased6964wt: 0.28 / mu: 0.40wt: CAGTCCTGTCTAAGCCCACCTGAGAGTAACCTTTGGATGGG
mu: CAGTCCTGTCTAAGCTCACCTGAGAGTAACCTTTGGATGGG
 acct|GAGA
distance from splice site 53
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      357KAINLLQSCLSPPESNLWMGLGPA
mutated  not conserved    357KAINLLQSCLSSPES
Ptroglodytes  all identical  ENSPTRG00000001065  357KAINLLQSCLSPPES
Mmulatta  all identical  ENSMMUG00000008030  358KAINLLQSCLSPPE
Fcatus  all identical  ENSFCAG00000015600  385KAIDLLQSCLSPQESDFWKGLGV
Mmusculus  all identical  ENSMUSG00000040600  365QSCLSPPEDTLWKSLGT
Ggallus  no homologue    
Trubripes  not conserved  ENSTRUG00000006845  380GALQLLSVTTSNEEKQLWGSLGD
Drerio  all identical  ENSDARG00000077296  408ECVVFLSEEATPEEDHLWQSLGD
Dmelanogaster  not conserved  FBgn0029095  465EAINLLINCVTSKETELWRSLGD
Celegans  not conserved  Y57G11C.24  416SHESDIWMSLGE
Xtropicalis  not conserved  ENSXETG00000002019  359MSSCVTDKERKFWESLGD
protein features
start (aa)end (aa)featuredetails 
450509DOMAINSH3.might get lost (downstream of altered splice site)
453459STRANDmight get lost (downstream of altered splice site)
465468STRANDmight get lost (downstream of altered splice site)
476481STRANDmight get lost (downstream of altered splice site)
483490STRANDmight get lost (downstream of altered splice site)
496500STRANDmight get lost (downstream of altered splice site)
501503HELIXmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1785 / 1785
position (AA) of stopcodon in wt / mu AA sequence 595 / 595
position of stopcodon in wt / mu cDNA 2015 / 2015
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 231 / 231
chromosome 1
strand -1
last intron/exon boundary 2004
theoretical NMD boundary in CDS 1723
length of CDS 1785
coding sequence (CDS) position 1069
cDNA position
(for ins/del: last normal base / first normal base)
1299
gDNA position
(for ins/del: last normal base / first normal base)
6959
chromosomal position
(for ins/del: last normal base / first normal base)
110299691
original gDNA sequence snippet TGCTACAGTCCTGTCTAAGCCCACCTGAGAGTAACCTTTGG
altered gDNA sequence snippet TGCTACAGTCCTGTCTAAGCTCACCTGAGAGTAACCTTTGG
original cDNA sequence snippet TGCTACAGTCCTGTCTAAGCCCACCTGAGAGTAACCTTTGG
altered cDNA sequence snippet TGCTACAGTCCTGTCTAAGCTCACCTGAGAGTAACCTTTGG
wildtype AA sequence MSRPSSRAIY LHRKEYSQNL TSEPTLLQHR VEHLMTCKQG SQRVQGPEDA LQKLFEMDAQ
GRVWSQDLIL QVRDGWLQLL DIETKEELDS YRLDSIQAMN VALNTCSYNS ILSITVQEPG
LPGTSTLLFQ CQEVGAERLK TSLQKALEEE LEQSRPRLGG LQPGQDRWRG PAMERPLPME
QARYLEPGIP PEQPHQRTLE HSLPPSPRPL PRHTSAREPS AFTLPPPRRS SSPEDPERDE
EVLNHVLRDI ELFMGKLEKA QAKTSRKKKF GKKNKDQGGL TQAQYIDCFQ KIKHSFNLLG
RLATWLKETS APELVHILFK SLNFILARCP EAGLAAQVIS PLLTPKAINL LQSCLSPPES
NLWMGLGPAW TTSRADWTGD EPLPYQPTFS DDWQLPEPSS QAPLGYQDPV SLRRGSHRLG
STSHFPQEKT HNHDPQPGDP NSRPSSPKPA QPALKMQVLY EFEARNPREL TVVQGEKLEV
LDHSKRWWLV KNEAGRSGYI PSNILEPLQP GTPGTQGQSP SRVPMLRLSS RPEEVTDWLQ
AENFSTATVR TLGSLTGSQL LRIRPGELQM LCPQEAPRIL SRLEAVRRML GISP*
mutated AA sequence MSRPSSRAIY LHRKEYSQNL TSEPTLLQHR VEHLMTCKQG SQRVQGPEDA LQKLFEMDAQ
GRVWSQDLIL QVRDGWLQLL DIETKEELDS YRLDSIQAMN VALNTCSYNS ILSITVQEPG
LPGTSTLLFQ CQEVGAERLK TSLQKALEEE LEQSRPRLGG LQPGQDRWRG PAMERPLPME
QARYLEPGIP PEQPHQRTLE HSLPPSPRPL PRHTSAREPS AFTLPPPRRS SSPEDPERDE
EVLNHVLRDI ELFMGKLEKA QAKTSRKKKF GKKNKDQGGL TQAQYIDCFQ KIKHSFNLLG
RLATWLKETS APELVHILFK SLNFILARCP EAGLAAQVIS PLLTPKAINL LQSCLSSPES
NLWMGLGPAW TTSRADWTGD EPLPYQPTFS DDWQLPEPSS QAPLGYQDPV SLRRGSHRLG
STSHFPQEKT HNHDPQPGDP NSRPSSPKPA QPALKMQVLY EFEARNPREL TVVQGEKLEV
LDHSKRWWLV KNEAGRSGYI PSNILEPLQP GTPGTQGQSP SRVPMLRLSS RPEEVTDWLQ
AENFSTATVR TLGSLTGSQL LRIRPGELQM LCPQEAPRIL SRLEAVRRML GISP*
speed 1.63 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: 0.999997240548105 (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) chr1:110299691G>AN/A show variant in all transcripts   IGV
HGNC symbol EPS8L3
Ensembl transcript ID ENST00000361965
Genbank transcript ID NM_133181
UniProt peptide Q8TE67
alteration type single base exchange
alteration region CDS
DNA changes c.1066C>T
cDNA.1173C>T
g.6959C>T
AA changes P356S Score: 74 explain score(s)
position(s) of altered AA
if AA alteration in CDS
356
frameshift no
known variant Reference ID: rs11102001
databasehomozygous (A/A)heterozygousallele carriers
1000G125537662
ExAC1180953710717
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.0160.093
1.3270.116
(flanking)0.3060.113
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased6964wt: 0.28 / mu: 0.40wt: CAGTCCTGTCTAAGCCCACCTGAGAGTAACCTTTGGATGGG
mu: CAGTCCTGTCTAAGCTCACCTGAGAGTAACCTTTGGATGGG
 acct|GAGA
distance from splice site 53
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      356KAINLLQSCLSPPESNLWMGLGPA
mutated  not conserved    356KAINLLQSCLSSPESN
Ptroglodytes  all identical  ENSPTRG00000001065  357KAINLLQSCLSPPES
Mmulatta  all identical  ENSMMUG00000008030  358KAINLLQSCLSPPE
Fcatus  all identical  ENSFCAG00000015600  385KAIDLLQSCLSPQESDFWKGLGV
Mmusculus  all identical  ENSMUSG00000040600  365SCLSPPEDTLWKSLGT
Ggallus  no homologue    
Trubripes  not conserved  ENSTRUG00000006845  380GALQLLSVTTSNEEKQLWGSLGD
Drerio  all identical  ENSDARG00000077296  408ECVVFLSEEATPEEDHLWQSLGD
Dmelanogaster  not conserved  FBgn0029095  465EAINLLINCVTSKETELWRSLGD
Celegans  not conserved  Y57G11C.24  413EARELMQNCLTS
Xtropicalis  not conserved  ENSXETG00000002019  359SSCVTDKERKFWESLGD
protein features
start (aa)end (aa)featuredetails 
450509DOMAINSH3.might get lost (downstream of altered splice site)
453459STRANDmight get lost (downstream of altered splice site)
465468STRANDmight get lost (downstream of altered splice site)
476481STRANDmight get lost (downstream of altered splice site)
483490STRANDmight get lost (downstream of altered splice site)
496500STRANDmight get lost (downstream of altered splice site)
501503HELIXmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1782 / 1782
position (AA) of stopcodon in wt / mu AA sequence 594 / 594
position of stopcodon in wt / mu cDNA 1889 / 1889
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 108 / 108
chromosome 1
strand -1
last intron/exon boundary 1878
theoretical NMD boundary in CDS 1720
length of CDS 1782
coding sequence (CDS) position 1066
cDNA position
(for ins/del: last normal base / first normal base)
1173
gDNA position
(for ins/del: last normal base / first normal base)
6959
chromosomal position
(for ins/del: last normal base / first normal base)
110299691
original gDNA sequence snippet TGCTACAGTCCTGTCTAAGCCCACCTGAGAGTAACCTTTGG
altered gDNA sequence snippet TGCTACAGTCCTGTCTAAGCTCACCTGAGAGTAACCTTTGG
original cDNA sequence snippet TGCTACAGTCCTGTCTAAGCCCACCTGAGAGTAACCTTTGG
altered cDNA sequence snippet TGCTACAGTCCTGTCTAAGCTCACCTGAGAGTAACCTTTGG
wildtype AA sequence MSRPSSRAIY LHRKEYSQNL TSEPTLLQHR VEHLMTCKQG SQRVQGPEDA LQKLFEMDAQ
GRVWSQDLIL QVRDGWLQLL DIETKEELDS YRLDSIQAMN VALNTCSYNS ILSITVQEPG
LPGTSTLLFQ CQEVGAERLK TSLQKALEEE LEQRPRLGGL QPGQDRWRGP AMERPLPMEQ
ARYLEPGIPP EQPHQRTLEH SLPPSPRPLP RHTSAREPSA FTLPPPRRSS SPEDPERDEE
VLNHVLRDIE LFMGKLEKAQ AKTSRKKKFG KKNKDQGGLT QAQYIDCFQK IKHSFNLLGR
LATWLKETSA PELVHILFKS LNFILARCPE AGLAAQVISP LLTPKAINLL QSCLSPPESN
LWMGLGPAWT TSRADWTGDE PLPYQPTFSD DWQLPEPSSQ APLGYQDPVS LRRGSHRLGS
TSHFPQEKTH NHDPQPGDPN SRPSSPKPAQ PALKMQVLYE FEARNPRELT VVQGEKLEVL
DHSKRWWLVK NEAGRSGYIP SNILEPLQPG TPGTQGQSPS RVPMLRLSSR PEEVTDWLQA
ENFSTATVRT LGSLTGSQLL RIRPGELQML CPQEAPRILS RLEAVRRMLG ISP*
mutated AA sequence MSRPSSRAIY LHRKEYSQNL TSEPTLLQHR VEHLMTCKQG SQRVQGPEDA LQKLFEMDAQ
GRVWSQDLIL QVRDGWLQLL DIETKEELDS YRLDSIQAMN VALNTCSYNS ILSITVQEPG
LPGTSTLLFQ CQEVGAERLK TSLQKALEEE LEQRPRLGGL QPGQDRWRGP AMERPLPMEQ
ARYLEPGIPP EQPHQRTLEH SLPPSPRPLP RHTSAREPSA FTLPPPRRSS SPEDPERDEE
VLNHVLRDIE LFMGKLEKAQ AKTSRKKKFG KKNKDQGGLT QAQYIDCFQK IKHSFNLLGR
LATWLKETSA PELVHILFKS LNFILARCPE AGLAAQVISP LLTPKAINLL QSCLSSPESN
LWMGLGPAWT TSRADWTGDE PLPYQPTFSD DWQLPEPSSQ APLGYQDPVS LRRGSHRLGS
TSHFPQEKTH NHDPQPGDPN SRPSSPKPAQ PALKMQVLYE FEARNPRELT VVQGEKLEVL
DHSKRWWLVK NEAGRSGYIP SNILEPLQPG TPGTQGQSPS RVPMLRLSSR PEEVTDWLQA
ENFSTATVRT LGSLTGSQLL RIRPGELQML CPQEAPRILS RLEAVRRMLG ISP*
speed 1.26 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