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: ENST00000507065
Querying Taster for transcript #2: ENST00000296862
Querying Taster for transcript #3: ENST00000398742
MT speed 4.49 s - this script 8.313866 s

Results


genesymbolpredictionprobabilitymodelprediction
problem
splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
ADGRF2polymorphism_automatic2.78899126016086e-12simple_aaeQ80Rsingle base exchangers6907125show file
ADGRF2polymorphism_automatic2.78899126016086e-12simple_aaeQ148Rsingle base exchangers6907125show file
ADGRF2polymorphism_automatic2.78899126016086e-12simple_aaeQ80Rsingle base exchangers6907125show file

Taster files

Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999997211 (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
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:47646842A>GN/A show variant in all transcripts   IGV
HGNC symbol ADGRF2
Ensembl transcript ID ENST00000507065
Genbank transcript ID N/A
UniProt peptide Q8IZF7
alteration type single base exchange
alteration region CDS
DNA changes c.239A>G
cDNA.517A>G
g.22671A>G
AA changes Q80R Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS
80
frameshift no
known variant Reference ID: rs6907125
databasehomozygous (G/G)heterozygousallele carriers
1000G72211451867
ExAC22256-1174510511
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.5520.11
-0.4640.013
(flanking)-0.40.016
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 29
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      80QKTWHKITDTCQTLNALNIFEEDS
mutated  all conserved    80QKTWHKITDTCRTLNALNIFEED
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  all identical  ENSFCAG00000002459  139QKKWHKITETCQTL
Mmusculus  not conserved  ENSMUSG00000057899  81AKKWHKVTETCHTLNTHSIFEED
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no alignment  FBgn0039818  n/a
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
1451TOPO_DOMExtracellular (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1923 / 1923
position (AA) of stopcodon in wt / mu AA sequence 641 / 641
position of stopcodon in wt / mu cDNA 2201 / 2201
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 279 / 279
chromosome 6
strand 1
last intron/exon boundary 780
theoretical NMD boundary in CDS 451
length of CDS 1923
coding sequence (CDS) position 239
cDNA position
(for ins/del: last normal base / first normal base)
517
gDNA position
(for ins/del: last normal base / first normal base)
22671
chromosomal position
(for ins/del: last normal base / first normal base)
47646842
original gDNA sequence snippet CAAGATCACTGACACCTGCCAGACTCTTAATGCCCTCAACA
altered gDNA sequence snippet CAAGATCACTGACACCTGCCGGACTCTTAATGCCCTCAACA
original cDNA sequence snippet CAAGATCACTGACACCTGCCAGACTCTTAATGCCCTCAACA
altered cDNA sequence snippet CAAGATCACTGACACCTGCCGGACTCTTAATGCCCTCAACA
wildtype AA sequence MTHILLLYYL VFLLPTESCR TLYQAASKSK EKVPARPHGV CDGVCTDYSQ CTQPCPPDTQ
GNMGFSCRQK TWHKITDTCQ TLNALNIFEE DSRLVQPFED NIKISVYTGK SETITDMLLQ
KCPTDLSCVI RNIQQSPWIP GNIAVIVQLL HNISTAIWTG VDEAKMQSYS TIANHILNSK
SISNWTFIPD RNSSYILLHS VNSFARRLFI DKHPVDISDV FIHTMGTTIS GDNIGKNFTF
SMRINDTSNE VTGRVLISRD ELRKVPSPSQ VISIAFPTIG AILEASLLEN VTVNGLVLSA
ILPKELKRIS LIFEKISKSE ERRTQCVGWH SVENRWDQQA CKMIQENSQQ AVCKCRPSKL
FTSFSILMSP HILESLILTY ITYVGLGISI CSLILCLSIE VLVWSQVTKT EITYLRHVCI
VNIAATLLMA DVWFIVASFL SGPITHHKGC VAATFFVHFF YLSVFFWMLA KALLILYGIM
IVFHTLPKSV LVASLFSVGY GCPLAIAAIT VAATEPGKGY LRPEICWLNW DMTKALLAFV
IPALAIVVVN LITVTLVIVK TQRAAIGNSM FQEVRAIVRI SKNIAILTPL LGLTWGFGVA
TVIDDRSLAF HIIFSLLNAF QVSPDASDQV QSERIHEDVL *
mutated AA sequence MTHILLLYYL VFLLPTESCR TLYQAASKSK EKVPARPHGV CDGVCTDYSQ CTQPCPPDTQ
GNMGFSCRQK TWHKITDTCR TLNALNIFEE DSRLVQPFED NIKISVYTGK SETITDMLLQ
KCPTDLSCVI RNIQQSPWIP GNIAVIVQLL HNISTAIWTG VDEAKMQSYS TIANHILNSK
SISNWTFIPD RNSSYILLHS VNSFARRLFI DKHPVDISDV FIHTMGTTIS GDNIGKNFTF
SMRINDTSNE VTGRVLISRD ELRKVPSPSQ VISIAFPTIG AILEASLLEN VTVNGLVLSA
ILPKELKRIS LIFEKISKSE ERRTQCVGWH SVENRWDQQA CKMIQENSQQ AVCKCRPSKL
FTSFSILMSP HILESLILTY ITYVGLGISI CSLILCLSIE VLVWSQVTKT EITYLRHVCI
VNIAATLLMA DVWFIVASFL SGPITHHKGC VAATFFVHFF YLSVFFWMLA KALLILYGIM
IVFHTLPKSV LVASLFSVGY GCPLAIAAIT VAATEPGKGY LRPEICWLNW DMTKALLAFV
IPALAIVVVN LITVTLVIVK TQRAAIGNSM FQEVRAIVRI SKNIAILTPL LGLTWGFGVA
TVIDDRSLAF HIIFSLLNAF QVSPDASDQV QSERIHEDVL *
speed 1.60 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: 0.999999999997211 (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
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:47646842A>GN/A show variant in all transcripts   IGV
HGNC symbol ADGRF2
Ensembl transcript ID ENST00000296862
Genbank transcript ID N/A
UniProt peptide Q8IZF7
alteration type single base exchange
alteration region CDS
DNA changes c.443A>G
cDNA.443A>G
g.22671A>G
AA changes Q148R Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS
148
frameshift no
known variant Reference ID: rs6907125
databasehomozygous (G/G)heterozygousallele carriers
1000G72211451867
ExAC22256-1174510511
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.5520.11
-0.4640.013
(flanking)-0.40.016
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 29
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      148QKTWHKITDTCQTLNALNIFEEDS
mutated  all conserved    148QKTWHKITDTCRTLNALNIFEED
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  all identical  ENSFCAG00000002459  138QKKWHKITETCQTLNAFNIFE
Mmusculus  not conserved  ENSMUSG00000057899  80AKKWHKVTETCHTLN
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no alignment  FBgn0039818  n/a
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
1451TOPO_DOMExtracellular (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2127 / 2127
position (AA) of stopcodon in wt / mu AA sequence 709 / 709
position of stopcodon in wt / mu cDNA 2127 / 2127
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 1 / 1
chromosome 6
strand 1
last intron/exon boundary 706
theoretical NMD boundary in CDS 655
length of CDS 2127
coding sequence (CDS) position 443
cDNA position
(for ins/del: last normal base / first normal base)
443
gDNA position
(for ins/del: last normal base / first normal base)
22671
chromosomal position
(for ins/del: last normal base / first normal base)
47646842
original gDNA sequence snippet CAAGATCACTGACACCTGCCAGACTCTTAATGCCCTCAACA
altered gDNA sequence snippet CAAGATCACTGACACCTGCCGGACTCTTAATGCCCTCAACA
original cDNA sequence snippet CAAGATCACTGACACCTGCCAGACTCTTAATGCCCTCAACA
altered cDNA sequence snippet CAAGATCACTGACACCTGCCGGACTCTTAATGCCCTCAACA
wildtype AA sequence MGLTAYGNRR VQPGELPFGA NLTLIHTRAQ PVICSKLLLT KRVSPISFFL SKFQNSWGED
GWVQLDQLPS PNAVSSDQVH CSAGCTHRKC GWAASKSKEK VPARPHGVCD GVCTDYSQCT
QPCPPDTQGN MGFSCRQKTW HKITDTCQTL NALNIFEEDS RLVQPFEDNI KISVYTGKSE
TITDMLLQKC PTDLSCVIRN IQQSPWIPGN IAVIVQLLHN ISTAIWTGVD EAKMQSYSTI
ANHILNSKSI SNWTFIPDRN SSYILLHSVN SFARRLFIDK HPVDISDVFI HTMGTTISGD
NIGKNFTFSM RINDTSNEVT GRVLISRDEL RKVPSPSQVI SIAFPTIGAI LEASLLENVT
VNGLVLSAIL PKELKRISLI FEKISKSEER RTQCVGWHSV ENRWDQQACK MIQENSQQAV
CKCRPSKLFT SFSILMSPHI LESLILTYIT YVGLGISICS LILCLSIEVL VWSQVTKTEI
TYLRHVCIVN IAATLLMADV WFIVASFLSG PITHHKGCVA ATFFVHFFYL SVFFWMLAKA
LLILYGIMIV FHTLPKSVLV ASLFSVGYGC PLAIAAITVA ATEPGKGYLR PEICWLNWDM
TKALLAFVIP ALAIVVVNLI TVTLVIVKTQ RAAIGNSMFQ EVRAIVRISK NIAILTPLLG
LTWGFGVATV IDDRSLAFHI IFSLLNAFQV SPDASDQVQS ERIHEDVL*
mutated AA sequence MGLTAYGNRR VQPGELPFGA NLTLIHTRAQ PVICSKLLLT KRVSPISFFL SKFQNSWGED
GWVQLDQLPS PNAVSSDQVH CSAGCTHRKC GWAASKSKEK VPARPHGVCD GVCTDYSQCT
QPCPPDTQGN MGFSCRQKTW HKITDTCRTL NALNIFEEDS RLVQPFEDNI KISVYTGKSE
TITDMLLQKC PTDLSCVIRN IQQSPWIPGN IAVIVQLLHN ISTAIWTGVD EAKMQSYSTI
ANHILNSKSI SNWTFIPDRN SSYILLHSVN SFARRLFIDK HPVDISDVFI HTMGTTISGD
NIGKNFTFSM RINDTSNEVT GRVLISRDEL RKVPSPSQVI SIAFPTIGAI LEASLLENVT
VNGLVLSAIL PKELKRISLI FEKISKSEER RTQCVGWHSV ENRWDQQACK MIQENSQQAV
CKCRPSKLFT SFSILMSPHI LESLILTYIT YVGLGISICS LILCLSIEVL VWSQVTKTEI
TYLRHVCIVN IAATLLMADV WFIVASFLSG PITHHKGCVA ATFFVHFFYL SVFFWMLAKA
LLILYGIMIV FHTLPKSVLV ASLFSVGYGC PLAIAAITVA ATEPGKGYLR PEICWLNWDM
TKALLAFVIP ALAIVVVNLI TVTLVIVKTQ RAAIGNSMFQ EVRAIVRISK NIAILTPLLG
LTWGFGVATV IDDRSLAFHI IFSLLNAFQV SPDASDQVQS ERIHEDVL*
speed 1.59 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: 0.999999999997211 (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
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:47646842A>GN/A show variant in all transcripts   IGV
HGNC symbol ADGRF2
Ensembl transcript ID ENST00000398742
Genbank transcript ID N/A
UniProt peptide Q8IZF7
alteration type single base exchange
alteration region CDS
DNA changes c.239A>G
cDNA.288A>G
g.22671A>G
AA changes Q80R Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS
80
frameshift no
known variant Reference ID: rs6907125
databasehomozygous (G/G)heterozygousallele carriers
1000G72211451867
ExAC22256-1174510511
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.5520.11
-0.4640.013
(flanking)-0.40.016
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 29
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      80QKTWHKITDTCQTLNALNIFEEDS
mutated  all conserved    80QKTWHKITDTCRTLNALNIFEED
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  all identical  ENSFCAG00000002459  139QKKWHKITETCQTL
Mmusculus  not conserved  ENSMUSG00000057899  81AKKWHKVTETCHTLNTHSIFEED
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no alignment  FBgn0039818  n/a
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
1451TOPO_DOMExtracellular (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1929 / 1929
position (AA) of stopcodon in wt / mu AA sequence 643 / 643
position of stopcodon in wt / mu cDNA 1978 / 1978
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 50 / 50
chromosome 6
strand 1
last intron/exon boundary 2092
theoretical NMD boundary in CDS 1992
length of CDS 1929
coding sequence (CDS) position 239
cDNA position
(for ins/del: last normal base / first normal base)
288
gDNA position
(for ins/del: last normal base / first normal base)
22671
chromosomal position
(for ins/del: last normal base / first normal base)
47646842
original gDNA sequence snippet CAAGATCACTGACACCTGCCAGACTCTTAATGCCCTCAACA
altered gDNA sequence snippet CAAGATCACTGACACCTGCCGGACTCTTAATGCCCTCAACA
original cDNA sequence snippet CAAGATCACTGACACCTGCCAGACTCTTAATGCCCTCAACA
altered cDNA sequence snippet CAAGATCACTGACACCTGCCGGACTCTTAATGCCCTCAACA
wildtype AA sequence MTHILLLYYL VFLLPTESCR TLYQAASKSK EKVPARPHGV CDGVCTDYSQ CTQPCPPDTQ
GNMGFSCRQK TWHKITDTCQ TLNALNIFEE DSRLVQPFED NIKISVYTGK SETITDMLLQ
KCPTDLSCVI RNIQQSPWIP GNIAVIVQLL HNISTAIWTG VDEAKMQSYS TIANHILNSK
SISNWTFIPD RNSSYILLHS VNSFARRLFI DKHPVDISDV FIHTMGTTIS GDNIGKNFTF
SMRINDTSNE VTGRVLISRD ELRKVPSPSQ VISIAFPTIG AILEASLLEN VTVNGLVLSA
ILPKELKRIS LIFEKISKSE ERRTQCVGWH SVENRWDQQA CKMIQENSQQ AVCKCRPSKL
FTSFSILMSP HILESLILTY ITYVGLGISI CSLILCLSIE VLVWSQVTKT EITYLRHVCI
VNIAATLLMA DVWFIVASFL SGPITHHKGC VAATFFVHFF YLSVFFWMLA KALLILYGIM
IVFHTLPKSV LVASLFSVGY GCPLAIAAIT VAATEPGKGY LRPEICWLNW DMTKALLAFV
IPALAIVVVN LITVTLVIVK TQRAAIGNSM FQEVRAIVRI SKNIAILTPL LGLTWGFGVA
TVIDDRSLAF HIIFSLLNAF QGFFILVFGT ILDPKIREAL KG*
mutated AA sequence MTHILLLYYL VFLLPTESCR TLYQAASKSK EKVPARPHGV CDGVCTDYSQ CTQPCPPDTQ
GNMGFSCRQK TWHKITDTCR TLNALNIFEE DSRLVQPFED NIKISVYTGK SETITDMLLQ
KCPTDLSCVI RNIQQSPWIP GNIAVIVQLL HNISTAIWTG VDEAKMQSYS TIANHILNSK
SISNWTFIPD RNSSYILLHS VNSFARRLFI DKHPVDISDV FIHTMGTTIS GDNIGKNFTF
SMRINDTSNE VTGRVLISRD ELRKVPSPSQ VISIAFPTIG AILEASLLEN VTVNGLVLSA
ILPKELKRIS LIFEKISKSE ERRTQCVGWH SVENRWDQQA CKMIQENSQQ AVCKCRPSKL
FTSFSILMSP HILESLILTY ITYVGLGISI CSLILCLSIE VLVWSQVTKT EITYLRHVCI
VNIAATLLMA DVWFIVASFL SGPITHHKGC VAATFFVHFF YLSVFFWMLA KALLILYGIM
IVFHTLPKSV LVASLFSVGY GCPLAIAAIT VAATEPGKGY LRPEICWLNW DMTKALLAFV
IPALAIVVVN LITVTLVIVK TQRAAIGNSM FQEVRAIVRI SKNIAILTPL LGLTWGFGVA
TVIDDRSLAF HIIFSLLNAF QGFFILVFGT ILDPKIREAL KG*
speed 1.30 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