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: ENST00000529221
Querying Taster for transcript #2: ENST00000393020
Querying Taster for transcript #3: ENST00000483239
Querying Taster for transcript #4: ENST00000314756
MT speed 6.33 s - this script 9.25369 s

Results


genesymbolpredictionprobabilitymodelprediction
problem
splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
TTC12polymorphism_automatic7.99360577730113e-15simple_aaeM73Lsingle base exchangers723077show file
TTC12polymorphism_automatic7.99360577730113e-15simple_aaeM73Lsingle base exchangers723077show file
TTC12polymorphism_automatic7.99360577730113e-15simple_aaeM73Lsingle base exchangers723077show file
TTC12polymorphism_automatic7.99360577730113e-15simple_aaeM73Lsingle base exchangers723077show file

Taster files

Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999992 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr11:113194168A>CN/A show variant in all transcripts   IGV
HGNC symbol TTC12
Ensembl transcript ID ENST00000529221
Genbank transcript ID NM_017868
UniProt peptide Q9H892
alteration type single base exchange
alteration region CDS
DNA changes c.217A>C
cDNA.322A>C
g.8918A>C
AA changes M73L Score: 15 explain score(s)
position(s) of altered AA
if AA alteration in CDS
73
frameshift no
known variant Reference ID: rs723077
databasehomozygous (C/C)heterozygousallele carriers
1000G38510261411
ExAC13485579719282
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.2940
-2.0120
(flanking)-0.0710
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 increased8911wt: 0.4508 / mu: 0.4660 (marginal change - not scored)wt: ACTATGATCAGTCCTCCACAAACTGCTATGAAGGTTTCTTT
mu: ACTATGATCAGTCCTCCACAAACTGCTCTGAAGGTTTCTTT
 acaa|ACTG
Donor marginally increased8917wt: 0.9360 / mu: 0.9698 (marginal change - not scored)wt: ACTGCTATGAAGGTT
mu: ACTGCTCTGAAGGTT
 TGCT|atga
distance from splice site 6
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      73NKTMISPPQTAMKSAEEINSEAFL
mutated  all conserved    73NKTMISPPQTALKSAEEINSEAF
Ptroglodytes  all identical  ENSPTRG00000004292  73NKTMISPPQTAMKSAEEINSEAF
Mmulatta  all conserved  ENSMMUG00000014328  73NKTVISPPQTAVKSAEEVNSEAF
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000040219  73NKTMISPPQTP-ENADEMSPDAF
Ggallus  not conserved  ENSGALG00000007833  70DRTVINTRDPVRKNSSDALQEGF
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  not conserved  FBgn0039228  97NRKSLEEDNE--KQVKDMNQKSF
Celegans  no homologue    
Xtropicalis  no alignment  ENSXETG00000011664  n/a
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2118 / 2118
position (AA) of stopcodon in wt / mu AA sequence 706 / 706
position of stopcodon in wt / mu cDNA 2223 / 2223
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 106 / 106
chromosome 11
strand 1
last intron/exon boundary 2148
theoretical NMD boundary in CDS 1992
length of CDS 2118
coding sequence (CDS) position 217
cDNA position
(for ins/del: last normal base / first normal base)
322
gDNA position
(for ins/del: last normal base / first normal base)
8918
chromosomal position
(for ins/del: last normal base / first normal base)
113194168
original gDNA sequence snippet TCAGTCCTCCACAAACTGCTATGAAGGTTTCTTTTTCTATT
altered gDNA sequence snippet TCAGTCCTCCACAAACTGCTCTGAAGGTTTCTTTTTCTATT
original cDNA sequence snippet TCAGTCCTCCACAAACTGCTATGAAGAGTGCAGAAGAAATA
altered cDNA sequence snippet TCAGTCCTCCACAAACTGCTCTGAAGAGTGCAGAAGAAATA
wildtype AA sequence MDADKEKDLQ KFLKNVDEIS NLIQEMNSDD PVVQQKAVLE TEKRLLLMEE DQEEDECRTT
LNKTMISPPQ TAMKSAEEIN SEAFLASVEK DAKERAKRRR ENKVLADALK EKGNEAFAEG
NYETAILRYS EGLEKLKDMK VLYTNRAQAY MKLEDYEKAL VDCEWALKCD EKCTKAYFHM
GKANLALKNY SVSRECYKKI LEINPKLQTQ VKGYLNQVDL QEKADLQEKE AHELLDSGKN
TAVTTKNLLE TLSKPDQIPL FYAGGIEILT EMINECTEQT LFRMHNGFSI ISDNEVIRRC
FSTAGNDAVE EMVCVSVLKL WQAVCSRNEE NQRVLVIHHD RARLLAALLS SKVLAIRQQS
FALLLHLAQT ESGRSLIINH LDLTRLLEAL VSFLDFSDKE ANTAMGLFTD LALEERFQVW
FQANLPGVLP ALTGVLKTDP KVSSSSALCQ CIAIMGNLSA EPTTRRHMAA CEEFGDGCLS
LLARCEEDVD LFREVIYTLL GLMMNLCLQA PFVSEVWAVE VSRRCLSLLN SQDGGILTRA
AGVLSRTLSS SLKIVEEALR AGVVKKMMKF LKTGGETASR YAIKILAICT NSYHEAREEV
IRLDKKLSVM MKLLSSEDEV LVGNAALCLG NCMEVPNVAS SLLKTDLLQV LLKLAGSDTQ
KTAVQVNAGI ALGKLCTAEP RFAAQLRKLH GLEILNSTMK YISDS*
mutated AA sequence MDADKEKDLQ KFLKNVDEIS NLIQEMNSDD PVVQQKAVLE TEKRLLLMEE DQEEDECRTT
LNKTMISPPQ TALKSAEEIN SEAFLASVEK DAKERAKRRR ENKVLADALK EKGNEAFAEG
NYETAILRYS EGLEKLKDMK VLYTNRAQAY MKLEDYEKAL VDCEWALKCD EKCTKAYFHM
GKANLALKNY SVSRECYKKI LEINPKLQTQ VKGYLNQVDL QEKADLQEKE AHELLDSGKN
TAVTTKNLLE TLSKPDQIPL FYAGGIEILT EMINECTEQT LFRMHNGFSI ISDNEVIRRC
FSTAGNDAVE EMVCVSVLKL WQAVCSRNEE NQRVLVIHHD RARLLAALLS SKVLAIRQQS
FALLLHLAQT ESGRSLIINH LDLTRLLEAL VSFLDFSDKE ANTAMGLFTD LALEERFQVW
FQANLPGVLP ALTGVLKTDP KVSSSSALCQ CIAIMGNLSA EPTTRRHMAA CEEFGDGCLS
LLARCEEDVD LFREVIYTLL GLMMNLCLQA PFVSEVWAVE VSRRCLSLLN SQDGGILTRA
AGVLSRTLSS SLKIVEEALR AGVVKKMMKF LKTGGETASR YAIKILAICT NSYHEAREEV
IRLDKKLSVM MKLLSSEDEV LVGNAALCLG NCMEVPNVAS SLLKTDLLQV LLKLAGSDTQ
KTAVQVNAGI ALGKLCTAEP RFAAQLRKLH GLEILNSTMK YISDS*
speed 1.52 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: 0.999999999999992 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr11:113194168A>CN/A show variant in all transcripts   IGV
HGNC symbol TTC12
Ensembl transcript ID ENST00000393020
Genbank transcript ID N/A
UniProt peptide Q9H892
alteration type single base exchange
alteration region CDS
DNA changes c.217A>C
cDNA.622A>C
g.8918A>C
AA changes M73L Score: 15 explain score(s)
position(s) of altered AA
if AA alteration in CDS
73
frameshift no
known variant Reference ID: rs723077
databasehomozygous (C/C)heterozygousallele carriers
1000G38510261411
ExAC13485579719282
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.2940
-2.0120
(flanking)-0.0710
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 increased8911wt: 0.4508 / mu: 0.4660 (marginal change - not scored)wt: ACTATGATCAGTCCTCCACAAACTGCTATGAAGGTTTCTTT
mu: ACTATGATCAGTCCTCCACAAACTGCTCTGAAGGTTTCTTT
 acaa|ACTG
Donor marginally increased8917wt: 0.9360 / mu: 0.9698 (marginal change - not scored)wt: ACTGCTATGAAGGTT
mu: ACTGCTCTGAAGGTT
 TGCT|atga
distance from splice site 6
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      73NKTMISPPQTAMKSAEEINSEAFL
mutated  all conserved    73NKTMISPPQTALKSAEEINSEAF
Ptroglodytes  all identical  ENSPTRG00000004292  73NKTMISPPQTAMKSAEEINSEAF
Mmulatta  all conserved  ENSMMUG00000014328  73NKTVISPPQTAVKSAEEVNSEAF
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000040219  73NKTMISPPQTP-ENADEMSPDAF
Ggallus  not conserved  ENSGALG00000007833  70DRTVINTRDPVRKNSSDALQEGF
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  not conserved  FBgn0039228  97NRKSLEEDNE--KQVKDMNQKSF
Celegans  no homologue    
Xtropicalis  no alignment  ENSXETG00000011664  n/a
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2010 / 2010
position (AA) of stopcodon in wt / mu AA sequence 670 / 670
position of stopcodon in wt / mu cDNA 2415 / 2415
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 406 / 406
chromosome 11
strand 1
last intron/exon boundary 2374
theoretical NMD boundary in CDS 1918
length of CDS 2010
coding sequence (CDS) position 217
cDNA position
(for ins/del: last normal base / first normal base)
622
gDNA position
(for ins/del: last normal base / first normal base)
8918
chromosomal position
(for ins/del: last normal base / first normal base)
113194168
original gDNA sequence snippet TCAGTCCTCCACAAACTGCTATGAAGGTTTCTTTTTCTATT
altered gDNA sequence snippet TCAGTCCTCCACAAACTGCTCTGAAGGTTTCTTTTTCTATT
original cDNA sequence snippet TCAGTCCTCCACAAACTGCTATGAAGAGTGCAGAAGAAATA
altered cDNA sequence snippet TCAGTCCTCCACAAACTGCTCTGAAGAGTGCAGAAGAAATA
wildtype AA sequence MDADKEKDLQ KFLKNVDEIS NLIQEMNSDD PVVQQKAVLE TEKRLLLMEE DQEEDECRTT
LNKTMISPPQ TAMKSAEEIN SEAFLASVEK DAKERAKRRR ENKVLADALK EKGNEAFAEG
NYETAILRYS EGLEKLKDMK VLYTNRAQAY MKLEDYEKAL VDCEWALKCD EKCTKAYFHM
GKANLALKNY SVSRECYKKI LEINPKLQTQ VKGYLNQVDL QEKADLQEKE AHELLDSGKN
TAVTTKNLLE TLSKPDQIPL FYAGGIEILT EMINECTEQT LFRMHNGFSI ISDNEVIRRC
FSTAGNDAVE EMVCVSVLKL WQAVCSRNEE NQRVLVIHHD RARLLAALLS SKVLAIRQQS
FALLLHLAQT ESGRSLIINH LDLTRLLEAL VSFLDFSDKE ANTAMGLFTD LALEERFQVW
FQANLPGVLP ALTGVLKTDP KVSSSSALCQ CIAIMGNLSA EPTTRRHMAA CEEFGDGCLS
LLARCEEDVD LFREVIYTLL GLMMNLCLQA PFVSEVWAVE VSRRCLSLLN SQDGGILTRA
AGVLSRTLSS SLKIVEEALR AGVVKKMMKF LKTGGETASR YAIKILAICT NSYHEAREEV
IRLDKRAPTP PLETRLVPGN QSLLVQQAEE LGFSILKRMW PGWNSITILK PQQRWQNSLG
PHPSGCVYQ*
mutated AA sequence MDADKEKDLQ KFLKNVDEIS NLIQEMNSDD PVVQQKAVLE TEKRLLLMEE DQEEDECRTT
LNKTMISPPQ TALKSAEEIN SEAFLASVEK DAKERAKRRR ENKVLADALK EKGNEAFAEG
NYETAILRYS EGLEKLKDMK VLYTNRAQAY MKLEDYEKAL VDCEWALKCD EKCTKAYFHM
GKANLALKNY SVSRECYKKI LEINPKLQTQ VKGYLNQVDL QEKADLQEKE AHELLDSGKN
TAVTTKNLLE TLSKPDQIPL FYAGGIEILT EMINECTEQT LFRMHNGFSI ISDNEVIRRC
FSTAGNDAVE EMVCVSVLKL WQAVCSRNEE NQRVLVIHHD RARLLAALLS SKVLAIRQQS
FALLLHLAQT ESGRSLIINH LDLTRLLEAL VSFLDFSDKE ANTAMGLFTD LALEERFQVW
FQANLPGVLP ALTGVLKTDP KVSSSSALCQ CIAIMGNLSA EPTTRRHMAA CEEFGDGCLS
LLARCEEDVD LFREVIYTLL GLMMNLCLQA PFVSEVWAVE VSRRCLSLLN SQDGGILTRA
AGVLSRTLSS SLKIVEEALR AGVVKKMMKF LKTGGETASR YAIKILAICT NSYHEAREEV
IRLDKRAPTP PLETRLVPGN QSLLVQQAEE LGFSILKRMW PGWNSITILK PQQRWQNSLG
PHPSGCVYQ*
speed 1.50 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: 0.999999999999992 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr11:113194168A>CN/A show variant in all transcripts   IGV
HGNC symbol TTC12
Ensembl transcript ID ENST00000483239
Genbank transcript ID N/A
UniProt peptide Q9H892
alteration type single base exchange
alteration region CDS
DNA changes c.217A>C
cDNA.234A>C
g.8918A>C
AA changes M73L Score: 15 explain score(s)
position(s) of altered AA
if AA alteration in CDS
73
frameshift no
known variant Reference ID: rs723077
databasehomozygous (C/C)heterozygousallele carriers
1000G38510261411
ExAC13485579719282
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.2940
-2.0120
(flanking)-0.0710
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 increased8911wt: 0.4508 / mu: 0.4660 (marginal change - not scored)wt: ACTATGATCAGTCCTCCACAAACTGCTATGAAGGTTTCTTT
mu: ACTATGATCAGTCCTCCACAAACTGCTCTGAAGGTTTCTTT
 acaa|ACTG
Donor marginally increased8917wt: 0.9360 / mu: 0.9698 (marginal change - not scored)wt: ACTGCTATGAAGGTT
mu: ACTGCTCTGAAGGTT
 TGCT|atga
distance from splice site 6
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      73NKTMISPPQTAMKSAEEINSEAFL
mutated  all conserved    73NKTMISPPQTALKSAEEINSEAF
Ptroglodytes  all identical  ENSPTRG00000004292  73NKTMISPPQTAMKSAEEINSEAF
Mmulatta  all conserved  ENSMMUG00000014328  73NKTVISPPQTAVKSAEEVNSEAF
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000040219  73NKTMISPPQTP-ENADEMSPDAF
Ggallus  not conserved  ENSGALG00000007833  70DRTVINTRDPVRKNSSDALQEGF
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  not conserved  FBgn0039228  97NRKSLEEDNE--KQVKDMNQKSF
Celegans  no homologue    
Xtropicalis  no alignment  ENSXETG00000011664  n/a
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2136 / 2136
position (AA) of stopcodon in wt / mu AA sequence 712 / 712
position of stopcodon in wt / mu cDNA 2153 / 2153
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 18 / 18
chromosome 11
strand 1
last intron/exon boundary 2078
theoretical NMD boundary in CDS 2010
length of CDS 2136
coding sequence (CDS) position 217
cDNA position
(for ins/del: last normal base / first normal base)
234
gDNA position
(for ins/del: last normal base / first normal base)
8918
chromosomal position
(for ins/del: last normal base / first normal base)
113194168
original gDNA sequence snippet TCAGTCCTCCACAAACTGCTATGAAGGTTTCTTTTTCTATT
altered gDNA sequence snippet TCAGTCCTCCACAAACTGCTCTGAAGGTTTCTTTTTCTATT
original cDNA sequence snippet TCAGTCCTCCACAAACTGCTATGAAGAGTGCAGAAGAAATA
altered cDNA sequence snippet TCAGTCCTCCACAAACTGCTCTGAAGAGTGCAGAAGAAATA
wildtype AA sequence MDADKEKDLQ KFLKNVDEIS NLIQEMNSDD PVVQQKAVLE TEKRLLLMEE DQEEDECRTT
LNKTMISPPQ TAMKSAEEIN SEAFLASVEK DAKERAKRRR ENKVLADALK EKGNEAFAEG
NYETAILRYS EGLEKLKDMK VLYTNRAQAY MKLEDYEKAL VDCEWALKSF SFMQCDEKCT
KAYFHMGKAN LALKNYSVSR ECYKKILEIN PKLQTQVKGY LNQVDLQEKA DLQEKEAHEL
LDSGKNTAVT TKNLLETLSK PDQIPLFYAG GIEILTEMIN ECTEQTLFRM HNGFSIISDN
EVIRRCFSTA GNDAVEEMVC VSVLKLWQAV CSRNEENQRV LVIHHDRARL LAALLSSKVL
AIRQQSFALL LHLAQTESGR SLIINHLDLT RLLEALVSFL DFSDKEANTA MGLFTDLALE
ERFQVWFQAN LPGVLPALTG VLKTDPKVSS SSALCQCIAI MGNLSAEPTT RRHMAACEEF
GDGCLSLLAR CEEDVDLFRE VIYTLLGLMM NLCLQAPFVS EVWAVEVSRR CLSLLNSQDG
GILTRAAGVL SRTLSSSLKI VEEALRAGVV KKMMKFLKTG GETASRYAIK ILAICTNSYH
EAREEVIRLD KKLSVMMKLL SSEDEVLVGN AALCLGNCME VPNVASSLLK TDLLQVLLKL
AGSDTQKTAV QVNAGIALGK LCTAEPRFAA QLRKLHGLEI LNSTMKYISD S*
mutated AA sequence MDADKEKDLQ KFLKNVDEIS NLIQEMNSDD PVVQQKAVLE TEKRLLLMEE DQEEDECRTT
LNKTMISPPQ TALKSAEEIN SEAFLASVEK DAKERAKRRR ENKVLADALK EKGNEAFAEG
NYETAILRYS EGLEKLKDMK VLYTNRAQAY MKLEDYEKAL VDCEWALKSF SFMQCDEKCT
KAYFHMGKAN LALKNYSVSR ECYKKILEIN PKLQTQVKGY LNQVDLQEKA DLQEKEAHEL
LDSGKNTAVT TKNLLETLSK PDQIPLFYAG GIEILTEMIN ECTEQTLFRM HNGFSIISDN
EVIRRCFSTA GNDAVEEMVC VSVLKLWQAV CSRNEENQRV LVIHHDRARL LAALLSSKVL
AIRQQSFALL LHLAQTESGR SLIINHLDLT RLLEALVSFL DFSDKEANTA MGLFTDLALE
ERFQVWFQAN LPGVLPALTG VLKTDPKVSS SSALCQCIAI MGNLSAEPTT RRHMAACEEF
GDGCLSLLAR CEEDVDLFRE VIYTLLGLMM NLCLQAPFVS EVWAVEVSRR CLSLLNSQDG
GILTRAAGVL SRTLSSSLKI VEEALRAGVV KKMMKFLKTG GETASRYAIK ILAICTNSYH
EAREEVIRLD KKLSVMMKLL SSEDEVLVGN AALCLGNCME VPNVASSLLK TDLLQVLLKL
AGSDTQKTAV QVNAGIALGK LCTAEPRFAA QLRKLHGLEI LNSTMKYISD S*
speed 1.64 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: 0.999999999999992 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr11:113194168A>CN/A show variant in all transcripts   IGV
HGNC symbol TTC12
Ensembl transcript ID ENST00000314756
Genbank transcript ID N/A
UniProt peptide Q9H892
alteration type single base exchange
alteration region CDS
DNA changes c.217A>C
cDNA.268A>C
g.8918A>C
AA changes M73L Score: 15 explain score(s)
position(s) of altered AA
if AA alteration in CDS
73
frameshift no
known variant Reference ID: rs723077
databasehomozygous (C/C)heterozygousallele carriers
1000G38510261411
ExAC13485579719282
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.2940
-2.0120
(flanking)-0.0710
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 increased8911wt: 0.4508 / mu: 0.4660 (marginal change - not scored)wt: ACTATGATCAGTCCTCCACAAACTGCTATGAAGGTTTCTTT
mu: ACTATGATCAGTCCTCCACAAACTGCTCTGAAGGTTTCTTT
 acaa|ACTG
Donor marginally increased8917wt: 0.9360 / mu: 0.9698 (marginal change - not scored)wt: ACTGCTATGAAGGTT
mu: ACTGCTCTGAAGGTT
 TGCT|atga
distance from splice site 6
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      73NKTMISPPQTAMKSAEEINSEAFL
mutated  all conserved    73NKTMISPPQTALKSAEEINSEAF
Ptroglodytes  all identical  ENSPTRG00000004292  73NKTMISPPQTAMKSAEEINSEAF
Mmulatta  all conserved  ENSMMUG00000014328  73NKTVISPPQTAVKSAEEVNSEAF
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000040219  73NKTMISPPQTP-ENADEMSPDAF
Ggallus  not conserved  ENSGALG00000007833  70DRTVINTRDPVRKNSSDALQEGF
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  not conserved  FBgn0039228  97NRKSLEEDNE--KQVKDMNQKSF
Celegans  no homologue    
Xtropicalis  no alignment  ENSXETG00000011664  n/a
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2199 / 2199
position (AA) of stopcodon in wt / mu AA sequence 733 / 733
position of stopcodon in wt / mu cDNA 2250 / 2250
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 52 / 52
chromosome 11
strand 1
last intron/exon boundary 2094
theoretical NMD boundary in CDS 1992
length of CDS 2199
coding sequence (CDS) position 217
cDNA position
(for ins/del: last normal base / first normal base)
268
gDNA position
(for ins/del: last normal base / first normal base)
8918
chromosomal position
(for ins/del: last normal base / first normal base)
113194168
original gDNA sequence snippet TCAGTCCTCCACAAACTGCTATGAAGGTTTCTTTTTCTATT
altered gDNA sequence snippet TCAGTCCTCCACAAACTGCTCTGAAGGTTTCTTTTTCTATT
original cDNA sequence snippet TCAGTCCTCCACAAACTGCTATGAAGAGTGCAGAAGAAATA
altered cDNA sequence snippet TCAGTCCTCCACAAACTGCTCTGAAGAGTGCAGAAGAAATA
wildtype AA sequence MDADKEKDLQ KFLKNVDEIS NLIQEMNSDD PVVQQKAVLE TEKRLLLMEE DQEEDECRTT
LNKTMISPPQ TAMKSAEEIN SEAFLASVEK DAKERAKRRR ENKVLADALK EKGNEAFAEG
NYETAILRYS EGLEKLKDMK VLYTNRAQAY MKLEDYEKAL VDCEWALKCD EKCTKAYFHM
GKANLALKNY SVSRECYKKI LEINPKLQTQ VKGYLNQVDL QEKADLQEKE AHELLDSGKN
TAVTTKNLLE TLSKPDQIPL FYAGGIEILT EMINECTEQT LFRMHNGFSI ISDNEVIRRC
FSTAGNDAVE EMVCVSVLKL WQAVCSRNEE NQRVLVIHHD RARLLAALLS SKVLAIRQQS
FALLLHLAQT ESGRSLIINH LDLTRLLEAL VSFLDFSDKE ANTAMGLFTD LALEERFQVW
FQANLPGVLP ALTGVLKTDP KVSSSSALCQ CIAIMGNLSA EPTTRRHMAA CEEFGDGCLS
LLARCEEDVD LFREVIYTLL GLMMNLCLQA PFVSEVWAVE VSRRCLSLLN SQDGGILTRA
AGVLSRTLSS SLKIVEEALR AGVVKKMMKF LKTGGETASR YAIKILAICT NSYHEAREEV
IRLDKKLSVM MKLLSSEDEV LVGNAALCLG NCMEVPNVAS SLLKTDLLQV LLKLAGSDTQ
KTAVQVNAGI ALGKLCTAEP RVPAESSHLQ FGRESAAPEA LSPRRWEEMF HMLVFSLSSV
DPPPPPPQTC YP*
mutated AA sequence MDADKEKDLQ KFLKNVDEIS NLIQEMNSDD PVVQQKAVLE TEKRLLLMEE DQEEDECRTT
LNKTMISPPQ TALKSAEEIN SEAFLASVEK DAKERAKRRR ENKVLADALK EKGNEAFAEG
NYETAILRYS EGLEKLKDMK VLYTNRAQAY MKLEDYEKAL VDCEWALKCD EKCTKAYFHM
GKANLALKNY SVSRECYKKI LEINPKLQTQ VKGYLNQVDL QEKADLQEKE AHELLDSGKN
TAVTTKNLLE TLSKPDQIPL FYAGGIEILT EMINECTEQT LFRMHNGFSI ISDNEVIRRC
FSTAGNDAVE EMVCVSVLKL WQAVCSRNEE NQRVLVIHHD RARLLAALLS SKVLAIRQQS
FALLLHLAQT ESGRSLIINH LDLTRLLEAL VSFLDFSDKE ANTAMGLFTD LALEERFQVW
FQANLPGVLP ALTGVLKTDP KVSSSSALCQ CIAIMGNLSA EPTTRRHMAA CEEFGDGCLS
LLARCEEDVD LFREVIYTLL GLMMNLCLQA PFVSEVWAVE VSRRCLSLLN SQDGGILTRA
AGVLSRTLSS SLKIVEEALR AGVVKKMMKF LKTGGETASR YAIKILAICT NSYHEAREEV
IRLDKKLSVM MKLLSSEDEV LVGNAALCLG NCMEVPNVAS SLLKTDLLQV LLKLAGSDTQ
KTAVQVNAGI ALGKLCTAEP RVPAESSHLQ FGRESAAPEA LSPRRWEEMF HMLVFSLSSV
DPPPPPPQTC YP*
speed 1.67 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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Problems