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 9 transcript(s)...
Querying Taster for transcript #1: ENST00000497524
Querying Taster for transcript #2: ENST00000349243
Querying Taster for transcript #3: ENST00000404754
Querying Taster for transcript #4: ENST00000475347
Querying Taster for transcript #5: ENST00000474935
Querying Taster for transcript #6: ENST00000461609
Querying Taster for transcript #7: ENST00000542281
Querying Taster for transcript #8: ENST00000418473
Querying Taster for transcript #9: ENST00000402260
MT speed 0 s - this script 8.721099 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
AGTR1disease_causing_automatic0.999999845074606simple_aae0T282Msingle base exchangers104893677show file
AGTR1disease_causing_automatic0.999999845074606simple_aae0T282Msingle base exchangers104893677show file
AGTR1disease_causing_automatic0.999999845074606simple_aae0T282Msingle base exchangers104893677show file
AGTR1disease_causing_automatic0.999999845074606simple_aae0T282Msingle base exchangers104893677show file
AGTR1disease_causing_automatic0.999999845074606simple_aae0T282Msingle base exchangers104893677show file
AGTR1disease_causing_automatic0.999999845074606simple_aae0T282Msingle base exchangers104893677show file
AGTR1disease_causing_automatic0.999999845074606simple_aae0T282Msingle base exchangers104893677show file
AGTR1disease_causing_automatic0.999999845074606simple_aae0T282Msingle base exchangers104893677show file
AGTR1disease_causing_automatic0.999999845074606simple_aae0T282Msingle base exchangers104893677show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999845074606 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM053094)
  • known disease mutation: rs18067 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:148459667C>TN/A show variant in all transcripts   IGV
HGNC symbol AGTR1
Ensembl transcript ID ENST00000497524
Genbank transcript ID NM_009585
UniProt peptide P30556
alteration type single base exchange
alteration region CDS
DNA changes c.845C>T
cDNA.1236C>T
g.44097C>T
AA changes T282M Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 282
frameshift no
known variant Reference ID: rs104893677
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs18067 (pathogenic for Renal dysplasia) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM053094)

known disease mutation at this position, please check HGMD for details (HGMD ID CM053094)
known disease mutation at this position, please check HGMD for details (HGMD ID CM053094)
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)3.6171
4.3861
(flanking)-3.4290.007
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 892
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      282IRDCRIADIVDTAMPITICIAYFN
mutated  not conserved    282IRDCRIADIVDMAMPITICIAYF
Ptroglodytes  all identical  ENSPTRG00000015503  282IRDCRIADIVDTAMPITICIAYF
Mmulatta  all identical  ENSMMUG00000020680  282IRDCRISDIVDTAMPITICIAYF
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000049115  282IHDCKIADIVDTAMPITICIAYF
Ggallus  all identical  ENSGALG00000024000  282ITDCKITDIVDTAMPFTICIAYF
Trubripes  all identical  ENSTRUG00000017757  288VQNCPLLDIIDTAMPFTICIAYV
Drerio  all identical  ENSDARG00000018616  281ITSCDVVDIIDTGMPFTICIAFF
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000016079  281IQNCKIYDIVDTGMPITICIAYF
protein features
start (aa)end (aa)featuredetails 
276296TRANSMEMHelical; Name=7; (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1080 / 1080
position (AA) of stopcodon in wt / mu AA sequence 360 / 360
position of stopcodon in wt / mu cDNA 1471 / 1471
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 392 / 392
chromosome 3
strand 1
last intron/exon boundary 345
theoretical NMD boundary in CDS cannot be calculated, too little distance between start ATG and last intron/exon boundary
length of CDS 1080
coding sequence (CDS) position 845
cDNA position
(for ins/del: last normal base / first normal base)		 1236
gDNA position
(for ins/del: last normal base / first normal base)		 44097
chromosomal position
(for ins/del: last normal base / first normal base)		 148459667
original gDNA sequence snippet AATTGCAGATATTGTGGACACGGCCATGCCTATCACCATTT
altered gDNA sequence snippet AATTGCAGATATTGTGGACATGGCCATGCCTATCACCATTT
original cDNA sequence snippet AATTGCAGATATTGTGGACACGGCCATGCCTATCACCATTT
altered cDNA sequence snippet AATTGCAGATATTGTGGACATGGCCATGCCTATCACCATTT
wildtype AA sequence MILNSSTEDG IKRIQDDCPK AGRHNYIFVM IPTLYSIIFV VGIFGNSLVV IVIYFYMKLK
TVASVFLLNL ALADLCFLLT LPLWAVYTAM EYRWPFGNYL CKIASASVSF NLYASVFLLT
CLSIDRYLAI VHPMKSRLRR TMLVAKVTCI IIWLLAGLAS LPAIIHRNVF FIENTNITVC
AFHYESQNST LPIGLGLTKN ILGFLFPFLI ILTSYTLIWK ALKKAYEIQK NKPRNDDIFK
IIMAIVLFFF FSWIPHQIFT FLDVLIQLGI IRDCRIADIV DTAMPITICI AYFNNCLNPL
FYGFLGKKFK RYFLQLLKYI PPKAKSHSNL STKMSTLSYR PSDNVSSSTK KPAPCFEVE*
mutated AA sequence MILNSSTEDG IKRIQDDCPK AGRHNYIFVM IPTLYSIIFV VGIFGNSLVV IVIYFYMKLK
TVASVFLLNL ALADLCFLLT LPLWAVYTAM EYRWPFGNYL CKIASASVSF NLYASVFLLT
CLSIDRYLAI VHPMKSRLRR TMLVAKVTCI IIWLLAGLAS LPAIIHRNVF FIENTNITVC
AFHYESQNST LPIGLGLTKN ILGFLFPFLI ILTSYTLIWK ALKKAYEIQK NKPRNDDIFK
IIMAIVLFFF FSWIPHQIFT FLDVLIQLGI IRDCRIADIV DMAMPITICI AYFNNCLNPL
FYGFLGKKFK RYFLQLLKYI PPKAKSHSNL STKMSTLSYR PSDNVSSSTK KPAPCFEVE*
speed 1.23 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

disease causing

 Model: simple_aae, prob: 0.999999845074606 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM053094)
  • known disease mutation: rs18067 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:148459667C>TN/A show variant in all transcripts   IGV
HGNC symbol AGTR1
Ensembl transcript ID ENST00000349243
Genbank transcript ID NM_000685
UniProt peptide P30556
alteration type single base exchange
alteration region CDS
DNA changes c.845C>T
cDNA.1233C>T
g.44097C>T
AA changes T282M Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 282
frameshift no
known variant Reference ID: rs104893677
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs18067 (pathogenic for Renal dysplasia) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM053094)

known disease mutation at this position, please check HGMD for details (HGMD ID CM053094)
known disease mutation at this position, please check HGMD for details (HGMD ID CM053094)
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)3.6171
4.3861
(flanking)-3.4290.007
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 892
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      282IRDCRIADIVDTAMPITICIAYFN
mutated  not conserved    282IRDCRIADIVDMAMPITICIAYF
Ptroglodytes  all identical  ENSPTRG00000015503  282IRDCRIADIVDTAMPITICIAYF
Mmulatta  all identical  ENSMMUG00000020680  282IRDCRISDIVDTAMPITICIAYF
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000049115  282IHDCKIADIVDTAMPITICIAYF
Ggallus  all identical  ENSGALG00000024000  282ITDCKITDIVDTAMPFTICIAYF
Trubripes  all identical  ENSTRUG00000017757  288VQNCPLLDIIDTAMPFTICIAYV
Drerio  all identical  ENSDARG00000018616  281ITSCDVVDIIDTGMPFTICIAFF
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000016079  281IQNCKIYDIVDTGMPITICIAYF
protein features
start (aa)end (aa)featuredetails 
276296TRANSMEMHelical; Name=7; (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1080 / 1080
position (AA) of stopcodon in wt / mu AA sequence 360 / 360
position of stopcodon in wt / mu cDNA 1468 / 1468
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 389 / 389
chromosome 3
strand 1
last intron/exon boundary 342
theoretical NMD boundary in CDS cannot be calculated, too little distance between start ATG and last intron/exon boundary
length of CDS 1080
coding sequence (CDS) position 845
cDNA position
(for ins/del: last normal base / first normal base)		 1233
gDNA position
(for ins/del: last normal base / first normal base)		 44097
chromosomal position
(for ins/del: last normal base / first normal base)		 148459667
original gDNA sequence snippet AATTGCAGATATTGTGGACACGGCCATGCCTATCACCATTT
altered gDNA sequence snippet AATTGCAGATATTGTGGACATGGCCATGCCTATCACCATTT
original cDNA sequence snippet AATTGCAGATATTGTGGACACGGCCATGCCTATCACCATTT
altered cDNA sequence snippet AATTGCAGATATTGTGGACATGGCCATGCCTATCACCATTT
wildtype AA sequence MILNSSTEDG IKRIQDDCPK AGRHNYIFVM IPTLYSIIFV VGIFGNSLVV IVIYFYMKLK
TVASVFLLNL ALADLCFLLT LPLWAVYTAM EYRWPFGNYL CKIASASVSF NLYASVFLLT
CLSIDRYLAI VHPMKSRLRR TMLVAKVTCI IIWLLAGLAS LPAIIHRNVF FIENTNITVC
AFHYESQNST LPIGLGLTKN ILGFLFPFLI ILTSYTLIWK ALKKAYEIQK NKPRNDDIFK
IIMAIVLFFF FSWIPHQIFT FLDVLIQLGI IRDCRIADIV DTAMPITICI AYFNNCLNPL
FYGFLGKKFK RYFLQLLKYI PPKAKSHSNL STKMSTLSYR PSDNVSSSTK KPAPCFEVE*
mutated AA sequence MILNSSTEDG IKRIQDDCPK AGRHNYIFVM IPTLYSIIFV VGIFGNSLVV IVIYFYMKLK
TVASVFLLNL ALADLCFLLT LPLWAVYTAM EYRWPFGNYL CKIASASVSF NLYASVFLLT
CLSIDRYLAI VHPMKSRLRR TMLVAKVTCI IIWLLAGLAS LPAIIHRNVF FIENTNITVC
AFHYESQNST LPIGLGLTKN ILGFLFPFLI ILTSYTLIWK ALKKAYEIQK NKPRNDDIFK
IIMAIVLFFF FSWIPHQIFT FLDVLIQLGI IRDCRIADIV DMAMPITICI AYFNNCLNPL
FYGFLGKKFK RYFLQLLKYI PPKAKSHSNL STKMSTLSYR PSDNVSSSTK KPAPCFEVE*
speed 1.38 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

disease causing

 Model: simple_aae, prob: 0.999999845074606 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM053094)
  • known disease mutation: rs18067 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:148459667C>TN/A show variant in all transcripts   IGV
HGNC symbol AGTR1
Ensembl transcript ID ENST00000404754
Genbank transcript ID N/A
UniProt peptide P30556
alteration type single base exchange
alteration region CDS
DNA changes c.845C>T
cDNA.1124C>T
g.44097C>T
AA changes T282M Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 282
frameshift no
known variant Reference ID: rs104893677
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs18067 (pathogenic for Renal dysplasia) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM053094)

known disease mutation at this position, please check HGMD for details (HGMD ID CM053094)
known disease mutation at this position, please check HGMD for details (HGMD ID CM053094)
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)3.6171
4.3861
(flanking)-3.4290.007
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 892
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      282IRDCRIADIVDTAMPITICIAYFN
mutated  not conserved    282IRDCRIADIVDMAMPITICIAYF
Ptroglodytes  all identical  ENSPTRG00000015503  282IRDCRIADIVDTAMPITICIAYF
Mmulatta  all identical  ENSMMUG00000020680  282IRDCRISDIVDTAMPITICIAYF
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000049115  282IHDCKIADIVDTAMPITICIAYF
Ggallus  all identical  ENSGALG00000024000  282ITDCKITDIVDTAMPFTICIAYF
Trubripes  all identical  ENSTRUG00000017757  288VQNCPLLDIIDTAMPFTICIAYV
Drerio  all identical  ENSDARG00000018616  281ITSCDVVDIIDTGMPFTICIAFF
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000016079  281IQNCKIYDIVDTGMPITICIAYF
protein features
start (aa)end (aa)featuredetails 
276296TRANSMEMHelical; Name=7; (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1080 / 1080
position (AA) of stopcodon in wt / mu AA sequence 360 / 360
position of stopcodon in wt / mu cDNA 1359 / 1359
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 280 / 280
chromosome 3
strand 1
last intron/exon boundary 233
theoretical NMD boundary in CDS cannot be calculated, too little distance between start ATG and last intron/exon boundary
length of CDS 1080
coding sequence (CDS) position 845
cDNA position
(for ins/del: last normal base / first normal base)		 1124
gDNA position
(for ins/del: last normal base / first normal base)		 44097
chromosomal position
(for ins/del: last normal base / first normal base)		 148459667
original gDNA sequence snippet AATTGCAGATATTGTGGACACGGCCATGCCTATCACCATTT
altered gDNA sequence snippet AATTGCAGATATTGTGGACATGGCCATGCCTATCACCATTT
original cDNA sequence snippet AATTGCAGATATTGTGGACACGGCCATGCCTATCACCATTT
altered cDNA sequence snippet AATTGCAGATATTGTGGACATGGCCATGCCTATCACCATTT
wildtype AA sequence MILNSSTEDG IKRIQDDCPK AGRHNYIFVM IPTLYSIIFV VGIFGNSLVV IVIYFYMKLK
TVASVFLLNL ALADLCFLLT LPLWAVYTAM EYRWPFGNYL CKIASASVSF NLYASVFLLT
CLSIDRYLAI VHPMKSRLRR TMLVAKVTCI IIWLLAGLAS LPAIIHRNVF FIENTNITVC
AFHYESQNST LPIGLGLTKN ILGFLFPFLI ILTSYTLIWK ALKKAYEIQK NKPRNDDIFK
IIMAIVLFFF FSWIPHQIFT FLDVLIQLGI IRDCRIADIV DTAMPITICI AYFNNCLNPL
FYGFLGKKFK RYFLQLLKYI PPKAKSHSNL STKMSTLSYR PSDNVSSSTK KPAPCFEVE*
mutated AA sequence MILNSSTEDG IKRIQDDCPK AGRHNYIFVM IPTLYSIIFV VGIFGNSLVV IVIYFYMKLK
TVASVFLLNL ALADLCFLLT LPLWAVYTAM EYRWPFGNYL CKIASASVSF NLYASVFLLT
CLSIDRYLAI VHPMKSRLRR TMLVAKVTCI IIWLLAGLAS LPAIIHRNVF FIENTNITVC
AFHYESQNST LPIGLGLTKN ILGFLFPFLI ILTSYTLIWK ALKKAYEIQK NKPRNDDIFK
IIMAIVLFFF FSWIPHQIFT FLDVLIQLGI IRDCRIADIV DMAMPITICI AYFNNCLNPL
FYGFLGKKFK RYFLQLLKYI PPKAKSHSNL STKMSTLSYR PSDNVSSSTK KPAPCFEVE*
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
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999845074606 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM053094)
  • known disease mutation: rs18067 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:148459667C>TN/A show variant in all transcripts   IGV
HGNC symbol AGTR1
Ensembl transcript ID ENST00000475347
Genbank transcript ID N/A
UniProt peptide P30556
alteration type single base exchange
alteration region CDS
DNA changes c.845C>T
cDNA.1302C>T
g.44097C>T
AA changes T282M Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 282
frameshift no
known variant Reference ID: rs104893677
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs18067 (pathogenic for Renal dysplasia) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM053094)

known disease mutation at this position, please check HGMD for details (HGMD ID CM053094)
known disease mutation at this position, please check HGMD for details (HGMD ID CM053094)
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)3.6171
4.3861
(flanking)-3.4290.007
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 368
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      282IRDCRIADIVDTAMPITICIAYFN
mutated  not conserved    282IRDCRIADIVDMAMPITICIAYF
Ptroglodytes  all identical  ENSPTRG00000015503  282IRDCRIADIVDTAMPITICIAYF
Mmulatta  all identical  ENSMMUG00000020680  282IRDCRISDIVDTAMPITICIAYF
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000049115  282IHDCKIADIVDTAMPITICIAYF
Ggallus  all identical  ENSGALG00000024000  282ITDCKITDIVDTAMPFTICIAYF
Trubripes  all identical  ENSTRUG00000017757  288VQNCPLLDIIDTAMPFTICIAYV
Drerio  all identical  ENSDARG00000018616  281ITSCDVVDIIDTGMPFTICIAFF
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000016079  281IQNCKIYDIVDTGMPITICIAYF
protein features
start (aa)end (aa)featuredetails 
276296TRANSMEMHelical; Name=7; (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1080 / 1080
position (AA) of stopcodon in wt / mu AA sequence 360 / 360
position of stopcodon in wt / mu cDNA 1537 / 1537
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 458 / 458
chromosome 3
strand 1
last intron/exon boundary 411
theoretical NMD boundary in CDS cannot be calculated, too little distance between start ATG and last intron/exon boundary
length of CDS 1080
coding sequence (CDS) position 845
cDNA position
(for ins/del: last normal base / first normal base)		 1302
gDNA position
(for ins/del: last normal base / first normal base)		 44097
chromosomal position
(for ins/del: last normal base / first normal base)		 148459667
original gDNA sequence snippet AATTGCAGATATTGTGGACACGGCCATGCCTATCACCATTT
altered gDNA sequence snippet AATTGCAGATATTGTGGACATGGCCATGCCTATCACCATTT
original cDNA sequence snippet AATTGCAGATATTGTGGACACGGCCATGCCTATCACCATTT
altered cDNA sequence snippet AATTGCAGATATTGTGGACATGGCCATGCCTATCACCATTT
wildtype AA sequence MILNSSTEDG IKRIQDDCPK AGRHNYIFVM IPTLYSIIFV VGIFGNSLVV IVIYFYMKLK
TVASVFLLNL ALADLCFLLT LPLWAVYTAM EYRWPFGNYL CKIASASVSF NLYASVFLLT
CLSIDRYLAI VHPMKSRLRR TMLVAKVTCI IIWLLAGLAS LPAIIHRNVF FIENTNITVC
AFHYESQNST LPIGLGLTKN ILGFLFPFLI ILTSYTLIWK ALKKAYEIQK NKPRNDDIFK
IIMAIVLFFF FSWIPHQIFT FLDVLIQLGI IRDCRIADIV DTAMPITICI AYFNNCLNPL
FYGFLGKKFK RYFLQLLKYI PPKAKSHSNL STKMSTLSYR PSDNVSSSTK KPAPCFEVE*
mutated AA sequence MILNSSTEDG IKRIQDDCPK AGRHNYIFVM IPTLYSIIFV VGIFGNSLVV IVIYFYMKLK
TVASVFLLNL ALADLCFLLT LPLWAVYTAM EYRWPFGNYL CKIASASVSF NLYASVFLLT
CLSIDRYLAI VHPMKSRLRR TMLVAKVTCI IIWLLAGLAS LPAIIHRNVF FIENTNITVC
AFHYESQNST LPIGLGLTKN ILGFLFPFLI ILTSYTLIWK ALKKAYEIQK NKPRNDDIFK
IIMAIVLFFF FSWIPHQIFT FLDVLIQLGI IRDCRIADIV DMAMPITICI AYFNNCLNPL
FYGFLGKKFK RYFLQLLKYI PPKAKSHSNL STKMSTLSYR PSDNVSSSTK KPAPCFEVE*
speed 1.31 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

disease causing

 Model: simple_aae, prob: 0.999999845074606 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM053094)
  • known disease mutation: rs18067 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:148459667C>TN/A show variant in all transcripts   IGV
HGNC symbol AGTR1
Ensembl transcript ID ENST00000474935
Genbank transcript ID N/A
UniProt peptide P30556
alteration type single base exchange
alteration region CDS
DNA changes c.845C>T
cDNA.1428C>T
g.44097C>T
AA changes T282M Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 282
frameshift no
known variant Reference ID: rs104893677
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs18067 (pathogenic for Renal dysplasia) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM053094)

known disease mutation at this position, please check HGMD for details (HGMD ID CM053094)
known disease mutation at this position, please check HGMD for details (HGMD ID CM053094)
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)3.6171
4.3861
(flanking)-3.4290.007
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 368
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      282IRDCRIADIVDTAMPITICIAYFN
mutated  not conserved    282IRDCRIADIVDMAMPITICIAYF
Ptroglodytes  all identical  ENSPTRG00000015503  282IRDCRIADIVDTAMPITICIAYF
Mmulatta  all identical  ENSMMUG00000020680  282IRDCRISDIVDTAMPITICIAYF
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000049115  282IHDCKIADIVDTAMPITICIAYF
Ggallus  all identical  ENSGALG00000024000  282ITDCKITDIVDTAMPFTICIAYF
Trubripes  all identical  ENSTRUG00000017757  288VQNCPLLDIIDTAMPFTICIAYV
Drerio  all identical  ENSDARG00000018616  281ITSCDVVDIIDTGMPFTICIAFF
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000016079  281IQNCKIYDIVDTGMPITICIAYF
protein features
start (aa)end (aa)featuredetails 
276296TRANSMEMHelical; Name=7; (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1080 / 1080
position (AA) of stopcodon in wt / mu AA sequence 360 / 360
position of stopcodon in wt / mu cDNA 1663 / 1663
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 584 / 584
chromosome 3
strand 1
last intron/exon boundary 537
theoretical NMD boundary in CDS cannot be calculated, too little distance between start ATG and last intron/exon boundary
length of CDS 1080
coding sequence (CDS) position 845
cDNA position
(for ins/del: last normal base / first normal base)		 1428
gDNA position
(for ins/del: last normal base / first normal base)		 44097
chromosomal position
(for ins/del: last normal base / first normal base)		 148459667
original gDNA sequence snippet AATTGCAGATATTGTGGACACGGCCATGCCTATCACCATTT
altered gDNA sequence snippet AATTGCAGATATTGTGGACATGGCCATGCCTATCACCATTT
original cDNA sequence snippet AATTGCAGATATTGTGGACACGGCCATGCCTATCACCATTT
altered cDNA sequence snippet AATTGCAGATATTGTGGACATGGCCATGCCTATCACCATTT
wildtype AA sequence MILNSSTEDG IKRIQDDCPK AGRHNYIFVM IPTLYSIIFV VGIFGNSLVV IVIYFYMKLK
TVASVFLLNL ALADLCFLLT LPLWAVYTAM EYRWPFGNYL CKIASASVSF NLYASVFLLT
CLSIDRYLAI VHPMKSRLRR TMLVAKVTCI IIWLLAGLAS LPAIIHRNVF FIENTNITVC
AFHYESQNST LPIGLGLTKN ILGFLFPFLI ILTSYTLIWK ALKKAYEIQK NKPRNDDIFK
IIMAIVLFFF FSWIPHQIFT FLDVLIQLGI IRDCRIADIV DTAMPITICI AYFNNCLNPL
FYGFLGKKFK RYFLQLLKYI PPKAKSHSNL STKMSTLSYR PSDNVSSSTK KPAPCFEVE*
mutated AA sequence MILNSSTEDG IKRIQDDCPK AGRHNYIFVM IPTLYSIIFV VGIFGNSLVV IVIYFYMKLK
TVASVFLLNL ALADLCFLLT LPLWAVYTAM EYRWPFGNYL CKIASASVSF NLYASVFLLT
CLSIDRYLAI VHPMKSRLRR TMLVAKVTCI IIWLLAGLAS LPAIIHRNVF FIENTNITVC
AFHYESQNST LPIGLGLTKN ILGFLFPFLI ILTSYTLIWK ALKKAYEIQK NKPRNDDIFK
IIMAIVLFFF FSWIPHQIFT FLDVLIQLGI IRDCRIADIV DMAMPITICI AYFNNCLNPL
FYGFLGKKFK RYFLQLLKYI PPKAKSHSNL STKMSTLSYR PSDNVSSSTK KPAPCFEVE*
speed 1.40 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

disease causing

 Model: simple_aae, prob: 0.999999845074606 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM053094)
  • known disease mutation: rs18067 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:148459667C>TN/A show variant in all transcripts   IGV
HGNC symbol AGTR1
Ensembl transcript ID ENST00000542281
Genbank transcript ID NM_031850
UniProt peptide P30556
alteration type single base exchange
alteration region CDS
DNA changes c.845C>T
cDNA.1291C>T
g.44097C>T
AA changes T282M Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 282
frameshift no
known variant Reference ID: rs104893677
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs18067 (pathogenic for Renal dysplasia) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM053094)

known disease mutation at this position, please check HGMD for details (HGMD ID CM053094)
known disease mutation at this position, please check HGMD for details (HGMD ID CM053094)
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)3.6171
4.3861
(flanking)-3.4290.007
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 892
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      282IRDCRIADIVDTAMPITICIAYFN
mutated  not conserved    282IRDCRIADIVDMAMPITICIAYF
Ptroglodytes  all identical  ENSPTRG00000015503  282IRDCRIADIVDTAMPITICIAYF
Mmulatta  all identical  ENSMMUG00000020680  282IRDCRISDIVDTAMPITICIAYF
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000049115  282IHDCKIADIVDTAMPITICIAYF
Ggallus  all identical  ENSGALG00000024000  282ITDCKITDIVDTAMPFTICIAYF
Trubripes  all identical  ENSTRUG00000017757  288VQNCPLLDIIDTAMPFTICIAYV
Drerio  all identical  ENSDARG00000018616  281ITSCDVVDIIDTGMPFTICIAFF
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000016079  281IQNCKIYDIVDTGMPITICIAYF
protein features
start (aa)end (aa)featuredetails 
276296TRANSMEMHelical; Name=7; (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1080 / 1080
position (AA) of stopcodon in wt / mu AA sequence 360 / 360
position of stopcodon in wt / mu cDNA 1526 / 1526
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 447 / 447
chromosome 3
strand 1
last intron/exon boundary 400
theoretical NMD boundary in CDS cannot be calculated, too little distance between start ATG and last intron/exon boundary
length of CDS 1080
coding sequence (CDS) position 845
cDNA position
(for ins/del: last normal base / first normal base)		 1291
gDNA position
(for ins/del: last normal base / first normal base)		 44097
chromosomal position
(for ins/del: last normal base / first normal base)		 148459667
original gDNA sequence snippet AATTGCAGATATTGTGGACACGGCCATGCCTATCACCATTT
altered gDNA sequence snippet AATTGCAGATATTGTGGACATGGCCATGCCTATCACCATTT
original cDNA sequence snippet AATTGCAGATATTGTGGACACGGCCATGCCTATCACCATTT
altered cDNA sequence snippet AATTGCAGATATTGTGGACATGGCCATGCCTATCACCATTT
wildtype AA sequence MILNSSTEDG IKRIQDDCPK AGRHNYIFVM IPTLYSIIFV VGIFGNSLVV IVIYFYMKLK
TVASVFLLNL ALADLCFLLT LPLWAVYTAM EYRWPFGNYL CKIASASVSF NLYASVFLLT
CLSIDRYLAI VHPMKSRLRR TMLVAKVTCI IIWLLAGLAS LPAIIHRNVF FIENTNITVC
AFHYESQNST LPIGLGLTKN ILGFLFPFLI ILTSYTLIWK ALKKAYEIQK NKPRNDDIFK
IIMAIVLFFF FSWIPHQIFT FLDVLIQLGI IRDCRIADIV DTAMPITICI AYFNNCLNPL
FYGFLGKKFK RYFLQLLKYI PPKAKSHSNL STKMSTLSYR PSDNVSSSTK KPAPCFEVE*
mutated AA sequence MILNSSTEDG IKRIQDDCPK AGRHNYIFVM IPTLYSIIFV VGIFGNSLVV IVIYFYMKLK
TVASVFLLNL ALADLCFLLT LPLWAVYTAM EYRWPFGNYL CKIASASVSF NLYASVFLLT
CLSIDRYLAI VHPMKSRLRR TMLVAKVTCI IIWLLAGLAS LPAIIHRNVF FIENTNITVC
AFHYESQNST LPIGLGLTKN ILGFLFPFLI ILTSYTLIWK ALKKAYEIQK NKPRNDDIFK
IIMAIVLFFF FSWIPHQIFT FLDVLIQLGI IRDCRIADIV DMAMPITICI AYFNNCLNPL
FYGFLGKKFK RYFLQLLKYI PPKAKSHSNL STKMSTLSYR PSDNVSSSTK KPAPCFEVE*
speed 1.22 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

disease causing

 Model: simple_aae, prob: 0.999999845074606 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM053094)
  • known disease mutation: rs18067 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:148459667C>TN/A show variant in all transcripts   IGV
HGNC symbol AGTR1
Ensembl transcript ID ENST00000461609
Genbank transcript ID N/A
UniProt peptide P30556
alteration type single base exchange
alteration region CDS
DNA changes c.845C>T
cDNA.1178C>T
g.44097C>T
AA changes T282M Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 282
frameshift no
known variant Reference ID: rs104893677
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs18067 (pathogenic for Renal dysplasia) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM053094)

known disease mutation at this position, please check HGMD for details (HGMD ID CM053094)
known disease mutation at this position, please check HGMD for details (HGMD ID CM053094)
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)3.6171
4.3861
(flanking)-3.4290.007
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 368
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      282IRDCRIADIVDTAMPITICIAYFN
mutated  not conserved    282IRDCRIADIVDMAMPITICIAYF
Ptroglodytes  all identical  ENSPTRG00000015503  282IRDCRIADIVDTAMPITICIAYF
Mmulatta  all identical  ENSMMUG00000020680  282IRDCRISDIVDTAMPITICIAYF
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000049115  282IHDCKIADIVDTAMPITICIAYF
Ggallus  all identical  ENSGALG00000024000  282ITDCKITDIVDTAMPFTICIAYF
Trubripes  all identical  ENSTRUG00000017757  288VQNCPLLDIIDTAMPFTICIAYV
Drerio  all identical  ENSDARG00000018616  281ITSCDVVDIIDTGMPFTICIAFF
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000016079  281IQNCKIYDIVDTGMPITICIAYF
protein features
start (aa)end (aa)featuredetails 
276296TRANSMEMHelical; Name=7; (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1080 / 1080
position (AA) of stopcodon in wt / mu AA sequence 360 / 360
position of stopcodon in wt / mu cDNA 1413 / 1413
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 334 / 334
chromosome 3
strand 1
last intron/exon boundary 287
theoretical NMD boundary in CDS cannot be calculated, too little distance between start ATG and last intron/exon boundary
length of CDS 1080
coding sequence (CDS) position 845
cDNA position
(for ins/del: last normal base / first normal base)		 1178
gDNA position
(for ins/del: last normal base / first normal base)		 44097
chromosomal position
(for ins/del: last normal base / first normal base)		 148459667
original gDNA sequence snippet AATTGCAGATATTGTGGACACGGCCATGCCTATCACCATTT
altered gDNA sequence snippet AATTGCAGATATTGTGGACATGGCCATGCCTATCACCATTT
original cDNA sequence snippet AATTGCAGATATTGTGGACACGGCCATGCCTATCACCATTT
altered cDNA sequence snippet AATTGCAGATATTGTGGACATGGCCATGCCTATCACCATTT
wildtype AA sequence MILNSSTEDG IKRIQDDCPK AGRHNYIFVM IPTLYSIIFV VGIFGNSLVV IVIYFYMKLK
TVASVFLLNL ALADLCFLLT LPLWAVYTAM EYRWPFGNYL CKIASASVSF NLYASVFLLT
CLSIDRYLAI VHPMKSRLRR TMLVAKVTCI IIWLLAGLAS LPAIIHRNVF FIENTNITVC
AFHYESQNST LPIGLGLTKN ILGFLFPFLI ILTSYTLIWK ALKKAYEIQK NKPRNDDIFK
IIMAIVLFFF FSWIPHQIFT FLDVLIQLGI IRDCRIADIV DTAMPITICI AYFNNCLNPL
FYGFLGKKFK RYFLQLLKYI PPKAKSHSNL STKMSTLSYR PSDNVSSSTK KPAPCFEVE*
mutated AA sequence MILNSSTEDG IKRIQDDCPK AGRHNYIFVM IPTLYSIIFV VGIFGNSLVV IVIYFYMKLK
TVASVFLLNL ALADLCFLLT LPLWAVYTAM EYRWPFGNYL CKIASASVSF NLYASVFLLT
CLSIDRYLAI VHPMKSRLRR TMLVAKVTCI IIWLLAGLAS LPAIIHRNVF FIENTNITVC
AFHYESQNST LPIGLGLTKN ILGFLFPFLI ILTSYTLIWK ALKKAYEIQK NKPRNDDIFK
IIMAIVLFFF FSWIPHQIFT FLDVLIQLGI IRDCRIADIV DMAMPITICI AYFNNCLNPL
FYGFLGKKFK RYFLQLLKYI PPKAKSHSNL STKMSTLSYR PSDNVSSSTK KPAPCFEVE*
speed 1.46 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

disease causing

 Model: simple_aae, prob: 0.999999845074606 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM053094)
  • known disease mutation: rs18067 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:148459667C>TN/A show variant in all transcripts   IGV
HGNC symbol AGTR1
Ensembl transcript ID ENST00000418473
Genbank transcript ID NM_004835
UniProt peptide P30556
alteration type single base exchange
alteration region CDS
DNA changes c.845C>T
cDNA.1207C>T
g.44097C>T
AA changes T282M Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 282
frameshift no
known variant Reference ID: rs104893677
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs18067 (pathogenic for Renal dysplasia) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM053094)

known disease mutation at this position, please check HGMD for details (HGMD ID CM053094)
known disease mutation at this position, please check HGMD for details (HGMD ID CM053094)
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)3.6171
4.3861
(flanking)-3.4290.007
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 892
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      282IRDCRIADIVDTAMPITICIAYFN
mutated  not conserved    282IRDCRIADIVDMAMPITICIAYF
Ptroglodytes  all identical  ENSPTRG00000015503  282IRDCRIADIVDTAMPITICIAYF
Mmulatta  all identical  ENSMMUG00000020680  282IRDCRISDIVDTAMPITICIAYF
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000049115  282IHDCKIADIVDTAMPITICIAYF
Ggallus  all identical  ENSGALG00000024000  282ITDCKITDIVDTAMPFTICIAYF
Trubripes  all identical  ENSTRUG00000017757  288VQNCPLLDIIDTAMPFTICIAYV
Drerio  all identical  ENSDARG00000018616  281ITSCDVVDIIDTGMPFTICIAFF
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000016079  281IQNCKIYDIVDTGMPITICIAYF
protein features
start (aa)end (aa)featuredetails 
276296TRANSMEMHelical; Name=7; (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1080 / 1080
position (AA) of stopcodon in wt / mu AA sequence 360 / 360
position of stopcodon in wt / mu cDNA 1442 / 1442
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 363 / 363
chromosome 3
strand 1
last intron/exon boundary 316
theoretical NMD boundary in CDS cannot be calculated, too little distance between start ATG and last intron/exon boundary
length of CDS 1080
coding sequence (CDS) position 845
cDNA position
(for ins/del: last normal base / first normal base)		 1207
gDNA position
(for ins/del: last normal base / first normal base)		 44097
chromosomal position
(for ins/del: last normal base / first normal base)		 148459667
original gDNA sequence snippet AATTGCAGATATTGTGGACACGGCCATGCCTATCACCATTT
altered gDNA sequence snippet AATTGCAGATATTGTGGACATGGCCATGCCTATCACCATTT
original cDNA sequence snippet AATTGCAGATATTGTGGACACGGCCATGCCTATCACCATTT
altered cDNA sequence snippet AATTGCAGATATTGTGGACATGGCCATGCCTATCACCATTT
wildtype AA sequence MILNSSTEDG IKRIQDDCPK AGRHNYIFVM IPTLYSIIFV VGIFGNSLVV IVIYFYMKLK
TVASVFLLNL ALADLCFLLT LPLWAVYTAM EYRWPFGNYL CKIASASVSF NLYASVFLLT
CLSIDRYLAI VHPMKSRLRR TMLVAKVTCI IIWLLAGLAS LPAIIHRNVF FIENTNITVC
AFHYESQNST LPIGLGLTKN ILGFLFPFLI ILTSYTLIWK ALKKAYEIQK NKPRNDDIFK
IIMAIVLFFF FSWIPHQIFT FLDVLIQLGI IRDCRIADIV DTAMPITICI AYFNNCLNPL
FYGFLGKKFK RYFLQLLKYI PPKAKSHSNL STKMSTLSYR PSDNVSSSTK KPAPCFEVE*
mutated AA sequence MILNSSTEDG IKRIQDDCPK AGRHNYIFVM IPTLYSIIFV VGIFGNSLVV IVIYFYMKLK
TVASVFLLNL ALADLCFLLT LPLWAVYTAM EYRWPFGNYL CKIASASVSF NLYASVFLLT
CLSIDRYLAI VHPMKSRLRR TMLVAKVTCI IIWLLAGLAS LPAIIHRNVF FIENTNITVC
AFHYESQNST LPIGLGLTKN ILGFLFPFLI ILTSYTLIWK ALKKAYEIQK NKPRNDDIFK
IIMAIVLFFF FSWIPHQIFT FLDVLIQLGI IRDCRIADIV DMAMPITICI AYFNNCLNPL
FYGFLGKKFK RYFLQLLKYI PPKAKSHSNL STKMSTLSYR PSDNVSSSTK KPAPCFEVE*
speed 1.40 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

disease causing

 Model: simple_aae, prob: 0.999999845074606 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM053094)
  • known disease mutation: rs18067 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:148459667C>TN/A show variant in all transcripts   IGV
HGNC symbol AGTR1
Ensembl transcript ID ENST00000402260
Genbank transcript ID NM_032049
UniProt peptide P30556
alteration type single base exchange
alteration region CDS
DNA changes c.845C>T
cDNA.1051C>T
g.44097C>T
AA changes T282M Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 282
frameshift no
known variant Reference ID: rs104893677
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs18067 (pathogenic for Renal dysplasia) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM053094)

known disease mutation at this position, please check HGMD for details (HGMD ID CM053094)
known disease mutation at this position, please check HGMD for details (HGMD ID CM053094)
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)3.6171
4.3861
(flanking)-3.4290.007
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 892
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      282IRDCRIADIVDTAMPITICIAYFN
mutated  not conserved    282IRDCRIADIVDMAMPITICIAYF
Ptroglodytes  all identical  ENSPTRG00000015503  282IRDCRIADIVDTAMPITICIAYF
Mmulatta  all identical  ENSMMUG00000020680  282IRDCRISDIVDTAMPITICIAYF
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000049115  282IHDCKIADIVDTAMPITICIAYF
Ggallus  all identical  ENSGALG00000024000  282ITDCKITDIVDTAMPFTICIAYF
Trubripes  all identical  ENSTRUG00000017757  288VQNCPLLDIIDTAMPFTICIAYV
Drerio  all identical  ENSDARG00000018616  281ITSCDVVDIIDTGMPFTICIAFF
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000016079  281IQNCKIYDIVDTGMPITICIAYF
protein features
start (aa)end (aa)featuredetails 
276296TRANSMEMHelical; Name=7; (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1080 / 1080
position (AA) of stopcodon in wt / mu AA sequence 360 / 360
position of stopcodon in wt / mu cDNA 1286 / 1286
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 207 / 207
chromosome 3
strand 1
last intron/exon boundary 160
theoretical NMD boundary in CDS cannot be calculated, too little distance between start ATG and last intron/exon boundary
length of CDS 1080
coding sequence (CDS) position 845
cDNA position
(for ins/del: last normal base / first normal base)		 1051
gDNA position
(for ins/del: last normal base / first normal base)		 44097
chromosomal position
(for ins/del: last normal base / first normal base)		 148459667
original gDNA sequence snippet AATTGCAGATATTGTGGACACGGCCATGCCTATCACCATTT
altered gDNA sequence snippet AATTGCAGATATTGTGGACATGGCCATGCCTATCACCATTT
original cDNA sequence snippet AATTGCAGATATTGTGGACACGGCCATGCCTATCACCATTT
altered cDNA sequence snippet AATTGCAGATATTGTGGACATGGCCATGCCTATCACCATTT
wildtype AA sequence MILNSSTEDG IKRIQDDCPK AGRHNYIFVM IPTLYSIIFV VGIFGNSLVV IVIYFYMKLK
TVASVFLLNL ALADLCFLLT LPLWAVYTAM EYRWPFGNYL CKIASASVSF NLYASVFLLT
CLSIDRYLAI VHPMKSRLRR TMLVAKVTCI IIWLLAGLAS LPAIIHRNVF FIENTNITVC
AFHYESQNST LPIGLGLTKN ILGFLFPFLI ILTSYTLIWK ALKKAYEIQK NKPRNDDIFK
IIMAIVLFFF FSWIPHQIFT FLDVLIQLGI IRDCRIADIV DTAMPITICI AYFNNCLNPL
FYGFLGKKFK RYFLQLLKYI PPKAKSHSNL STKMSTLSYR PSDNVSSSTK KPAPCFEVE*
mutated AA sequence MILNSSTEDG IKRIQDDCPK AGRHNYIFVM IPTLYSIIFV VGIFGNSLVV IVIYFYMKLK
TVASVFLLNL ALADLCFLLT LPLWAVYTAM EYRWPFGNYL CKIASASVSF NLYASVFLLT
CLSIDRYLAI VHPMKSRLRR TMLVAKVTCI IIWLLAGLAS LPAIIHRNVF FIENTNITVC
AFHYESQNST LPIGLGLTKN ILGFLFPFLI ILTSYTLIWK ALKKAYEIQK NKPRNDDIFK
IIMAIVLFFF FSWIPHQIFT FLDVLIQLGI IRDCRIADIV DMAMPITICI AYFNNCLNPL
FYGFLGKKFK RYFLQLLKYI PPKAKSHSNL STKMSTLSYR PSDNVSSSTK KPAPCFEVE*
speed 1.16 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
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Problems