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: ENST00000368087
Querying Taster for transcript #2: ENST00000356962
Querying Taster for transcript #3: ENST00000476845
Querying Taster for transcript #4: ENST00000354577
MT speed 7.44 s - this script 8.537833 s

Results


genesymbolpredictionprobabilitymodelprediction
problem
splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
ARG1disease_causing_automatic0.999999999999873simple_aaeaffected0G138Vsingle base exchangers104893943show file
ARG1disease_causing_automatic0.999999999999873simple_aaeaffected0G138Vsingle base exchangers104893943show file
ARG1disease_causing_automatic0.999999999999973simple_aaeaffected0G146Vsingle base exchangers104893943show file
MED23disease_causing_automatic1without_aaeaffected0single base exchangers104893943show file

Taster files

Yum, tasty mutations...

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999999873 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM950091)
  • known disease mutation: rs2394 (pathogenic)
  • protein features (might be) affected
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:131902466G>TN/A show variant in all transcripts   IGV
HGNC symbol ARG1
Ensembl transcript ID ENST00000368087
Genbank transcript ID NM_000045
UniProt peptide P05089
alteration type single base exchange
alteration region CDS
DNA changes c.413G>T
cDNA.552G>T
g.8183G>T
AA changes G138V Score: 109 explain score(s)
position(s) of altered AA
if AA alteration in CDS
138
frameshift no
known variant Reference ID: rs104893943
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs2394 (pathogenic for Arginase deficiency) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM950091)

known disease mutation at this position, please check HGMD for details (HGMD ID CM950091)
known disease mutation at this position, please check HGMD for details (HGMD ID CM950091)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.0950.998
5.7330.999
(flanking)-0.6390.703
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased8181wt: 0.64 / mu: 0.87wt: ACAAGTGGAAACTTG
mu: ACAAGTGTAAACTTG
 AAGT|ggaa
Donor increased8176wt: 0.54 / mu: 0.87wt: CAACCACAAGTGGAA
mu: CAACCACAAGTGTAA
 ACCA|caag
Donor marginally increased8174wt: 0.9674 / mu: 0.9862 (marginal change - not scored)wt: GACAACCACAAGTGG
mu: GACAACCACAAGTGT
 CAAC|caca
distance from splice site 53
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      138TDINTPLTTTSGNLHGQPVSFLLK
mutated  not conserved    138TDINTPLTTTSVNLHGQPVSFLL
Ptroglodytes  all identical  ENSPTRG00000018600  138TDINTPLTTTSGNLHGQPVSFLL
Mmulatta  all identical  ENSMMUG00000017540  145TDINTPLTTTTGNLHGQPVSFLL
Fcatus  all identical  ENSFCAG00000002068  124TDINTPLTTTSGNLHGQPVSFLL
Mmusculus  all identical  ENSMUSG00000019987  138TDINTPLTTSSGNLHGQPVSFLL
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000002189  160DVNTALTTPTGNLHGQPMSFLL
Drerio  all identical  ENSDARG00000071703  158ADINTPLTTPTGNIHGQPMSYLI
Dmelanogaster  all identical  FBgn0023535  169ADINLHSTSQSGNIHGMPVSFLL
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
137139REGIONSubstrate binding.lost
140142HELIXmight get lost (downstream of altered splice site)
144148HELIXmight get lost (downstream of altered splice site)
150152HELIXmight get lost (downstream of altered splice site)
153155TURNmight get lost (downstream of altered splice site)
171173HELIXmight get lost (downstream of altered splice site)
174179STRANDmight get lost (downstream of altered splice site)
183183BINDINGSubstrate.might get lost (downstream of altered splice site)
184193HELIXmight get lost (downstream of altered splice site)
196199STRANDmight get lost (downstream of altered splice site)
200206HELIXmight get lost (downstream of altered splice site)
202202CONFLICTE -> K (in Ref. 3; AAL71547).might get lost (downstream of altered splice site)
208220HELIXmight get lost (downstream of altered splice site)
221223STRANDmight get lost (downstream of altered splice site)
227232STRANDmight get lost (downstream of altered splice site)
230230MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
232232METALManganese 1.might get lost (downstream of altered splice site)
232232METALManganese 2.might get lost (downstream of altered splice site)
233235HELIXmight get lost (downstream of altered splice site)
234234METALManganese 2.might get lost (downstream of altered splice site)
238240TURNmight get lost (downstream of altered splice site)
243246STRANDmight get lost (downstream of altered splice site)
254267HELIXmight get lost (downstream of altered splice site)
270276STRANDmight get lost (downstream of altered splice site)
280282HELIXmight get lost (downstream of altered splice site)
286303HELIXmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 969 / 969
position (AA) of stopcodon in wt / mu AA sequence 323 / 323
position of stopcodon in wt / mu cDNA 1108 / 1108
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 140 / 140
chromosome 6
strand 1
last intron/exon boundary 942
theoretical NMD boundary in CDS 752
length of CDS 969
coding sequence (CDS) position 413
cDNA position
(for ins/del: last normal base / first normal base)
552
gDNA position
(for ins/del: last normal base / first normal base)
8183
chromosomal position
(for ins/del: last normal base / first normal base)
131902466
original gDNA sequence snippet TCCACTGACAACCACAAGTGGAAACTTGCATGGACAACCTG
altered gDNA sequence snippet TCCACTGACAACCACAAGTGTAAACTTGCATGGACAACCTG
original cDNA sequence snippet TCCACTGACAACCACAAGTGGAAACTTGCATGGACAACCTG
altered cDNA sequence snippet TCCACTGACAACCACAAGTGTAAACTTGCATGGACAACCTG
wildtype AA sequence MSAKSRTIGI IGAPFSKGQP RGGVEEGPTV LRKAGLLEKL KEQECDVKDY GDLPFADIPN
DSPFQIVKNP RSVGKASEQL AGKVAEVKKN GRISLVLGGD HSLAIGSISG HARVHPDLGV
IWVDAHTDIN TPLTTTSGNL HGQPVSFLLK ELKGKIPDVP GFSWVTPCIS AKDIVYIGLR
DVDPGEHYIL KTLGIKYFSM TEVDRLGIGK VMEETLSYLL GRKKRPIHLS FDVDGLDPSF
TPATGTPVVG GLTYREGLYI TEEIYKTGLL SGLDIMEVNP SLGKTPEEVT RTVNTAVAIT
LACFGLAREG NHKPIDYLNP PK*
mutated AA sequence MSAKSRTIGI IGAPFSKGQP RGGVEEGPTV LRKAGLLEKL KEQECDVKDY GDLPFADIPN
DSPFQIVKNP RSVGKASEQL AGKVAEVKKN GRISLVLGGD HSLAIGSISG HARVHPDLGV
IWVDAHTDIN TPLTTTSVNL HGQPVSFLLK ELKGKIPDVP GFSWVTPCIS AKDIVYIGLR
DVDPGEHYIL KTLGIKYFSM TEVDRLGIGK VMEETLSYLL GRKKRPIHLS FDVDGLDPSF
TPATGTPVVG GLTYREGLYI TEEIYKTGLL SGLDIMEVNP SLGKTPEEVT RTVNTAVAIT
LACFGLAREG NHKPIDYLNP PK*
speed 2.36 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: 0.999999999999873 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM950091)
  • known disease mutation: rs2394 (pathogenic)
  • protein features (might be) affected
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:131902466G>TN/A show variant in all transcripts   IGV
HGNC symbol ARG1
Ensembl transcript ID ENST00000476845
Genbank transcript ID N/A
UniProt peptide P05089
alteration type single base exchange
alteration region CDS
DNA changes c.413G>T
cDNA.470G>T
g.8183G>T
AA changes G138V Score: 109 explain score(s)
position(s) of altered AA
if AA alteration in CDS
138
frameshift no
known variant Reference ID: rs104893943
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs2394 (pathogenic for Arginase deficiency) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM950091)

known disease mutation at this position, please check HGMD for details (HGMD ID CM950091)
known disease mutation at this position, please check HGMD for details (HGMD ID CM950091)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.0950.998
5.7330.999
(flanking)-0.6390.703
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased8181wt: 0.64 / mu: 0.87wt: ACAAGTGGAAACTTG
mu: ACAAGTGTAAACTTG
 AAGT|ggaa
Donor increased8176wt: 0.54 / mu: 0.87wt: CAACCACAAGTGGAA
mu: CAACCACAAGTGTAA
 ACCA|caag
Donor marginally increased8174wt: 0.9674 / mu: 0.9862 (marginal change - not scored)wt: GACAACCACAAGTGG
mu: GACAACCACAAGTGT
 CAAC|caca
distance from splice site 53
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      138TDINTPLTTTSGNLHGQPVSFLLK
mutated  not conserved    138TDINTPLTTTSVNLHGQPVSFLL
Ptroglodytes  all identical  ENSPTRG00000018600  138TDINTPLTTTSGNLHGQPVSFLL
Mmulatta  all identical  ENSMMUG00000017540  145TDINTPLTTTTGNLHGQPVSFLL
Fcatus  all identical  ENSFCAG00000002068  124TDINTPLTTTSGNLHGQPVSFLL
Mmusculus  all identical  ENSMUSG00000019987  138TDINTPLTTSSGNLHGQPVSFLL
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000002189  160DVNTALTTPTGNLHGQPMSFLL
Drerio  all identical  ENSDARG00000071703  158ADINTPLTTPTGNIHGQPMSYLI
Dmelanogaster  all identical  FBgn0023535  169ADINLHSTSQSGNIHGMPVSFLL
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
137139REGIONSubstrate binding.lost
140142HELIXmight get lost (downstream of altered splice site)
144148HELIXmight get lost (downstream of altered splice site)
150152HELIXmight get lost (downstream of altered splice site)
153155TURNmight get lost (downstream of altered splice site)
171173HELIXmight get lost (downstream of altered splice site)
174179STRANDmight get lost (downstream of altered splice site)
183183BINDINGSubstrate.might get lost (downstream of altered splice site)
184193HELIXmight get lost (downstream of altered splice site)
196199STRANDmight get lost (downstream of altered splice site)
200206HELIXmight get lost (downstream of altered splice site)
202202CONFLICTE -> K (in Ref. 3; AAL71547).might get lost (downstream of altered splice site)
208220HELIXmight get lost (downstream of altered splice site)
221223STRANDmight get lost (downstream of altered splice site)
227232STRANDmight get lost (downstream of altered splice site)
230230MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
232232METALManganese 1.might get lost (downstream of altered splice site)
232232METALManganese 2.might get lost (downstream of altered splice site)
233235HELIXmight get lost (downstream of altered splice site)
234234METALManganese 2.might get lost (downstream of altered splice site)
238240TURNmight get lost (downstream of altered splice site)
243246STRANDmight get lost (downstream of altered splice site)
254267HELIXmight get lost (downstream of altered splice site)
270276STRANDmight get lost (downstream of altered splice site)
280282HELIXmight get lost (downstream of altered splice site)
286303HELIXmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 711 / 711
position (AA) of stopcodon in wt / mu AA sequence 237 / 237
position of stopcodon in wt / mu cDNA 768 / 768
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 58 / 58
chromosome 6
strand 1
last intron/exon boundary 664
theoretical NMD boundary in CDS 556
length of CDS 711
coding sequence (CDS) position 413
cDNA position
(for ins/del: last normal base / first normal base)
470
gDNA position
(for ins/del: last normal base / first normal base)
8183
chromosomal position
(for ins/del: last normal base / first normal base)
131902466
original gDNA sequence snippet TCCACTGACAACCACAAGTGGAAACTTGCATGGACAACCTG
altered gDNA sequence snippet TCCACTGACAACCACAAGTGTAAACTTGCATGGACAACCTG
original cDNA sequence snippet TCCACTGACAACCACAAGTGGAAACTTGCATGGACAACCTG
altered cDNA sequence snippet TCCACTGACAACCACAAGTGTAAACTTGCATGGACAACCTG
wildtype AA sequence MSAKSRTIGI IGAPFSKGQP RGGVEEGPTV LRKAGLLEKL KEQECDVKDY GDLPFADIPN
DSPFQIVKNP RSVGKASEQL AGKVAEVKKN GRISLVLGGD HSLAIGSISG HARVHPDLGV
IWVDAHTDIN TPLTTTSGNL HGQPVSFLLK ELKGKIPDVP GFSWVTPCIS AKDIVYIGLR
DVDPGEHYIL KTLGIKYFSM TEVTRTVNTA VAITLACFGL AREGNHKPID YLNPPK*
mutated AA sequence MSAKSRTIGI IGAPFSKGQP RGGVEEGPTV LRKAGLLEKL KEQECDVKDY GDLPFADIPN
DSPFQIVKNP RSVGKASEQL AGKVAEVKKN GRISLVLGGD HSLAIGSISG HARVHPDLGV
IWVDAHTDIN TPLTTTSVNL HGQPVSFLLK ELKGKIPDVP GFSWVTPCIS AKDIVYIGLR
DVDPGEHYIL KTLGIKYFSM TEVTRTVNTA VAITLACFGL AREGNHKPID YLNPPK*
speed 1.92 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: 0.999999999999973 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM950091)
  • known disease mutation: rs2394 (pathogenic)
  • protein features (might be) affected
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:131902466G>TN/A show variant in all transcripts   IGV
HGNC symbol ARG1
Ensembl transcript ID ENST00000356962
Genbank transcript ID NM_001244438
UniProt peptide P05089
alteration type single base exchange
alteration region CDS
DNA changes c.437G>T
cDNA.495G>T
g.8183G>T
AA changes G146V Score: 109 explain score(s)
position(s) of altered AA
if AA alteration in CDS
146
frameshift no
known variant Reference ID: rs104893943
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs2394 (pathogenic for Arginase deficiency) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM950091)

known disease mutation at this position, please check HGMD for details (HGMD ID CM950091)
known disease mutation at this position, please check HGMD for details (HGMD ID CM950091)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.0950.998
5.7330.999
(flanking)-0.6390.703
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased8181wt: 0.64 / mu: 0.87wt: ACAAGTGGAAACTTG
mu: ACAAGTGTAAACTTG
 AAGT|ggaa
Donor increased8176wt: 0.54 / mu: 0.87wt: CAACCACAAGTGGAA
mu: CAACCACAAGTGTAA
 ACCA|caag
Donor marginally increased8174wt: 0.9674 / mu: 0.9862 (marginal change - not scored)wt: GACAACCACAAGTGG
mu: GACAACCACAAGTGT
 CAAC|caca
distance from splice site 53
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      146TDINTPLTTTSGNLHGQPVSFLLK
mutated  not conserved    146TDINTPLTTTSVNLHGQPVSFLL
Ptroglodytes  all identical  ENSPTRG00000018600  138TDINTPLTTTSGNLHGQPVSFLL
Mmulatta  all identical  ENSMMUG00000017540  145TDINTPLTTTTGNLHGQPVSFLL
Fcatus  all identical  ENSFCAG00000002068  124TDINTPLTTTSGNLHGQPVSFLL
Mmusculus  all identical  ENSMUSG00000019987  138TDINTPLTTSSGNLHGQPVSFLL
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000002189  160ADVNTALTTPTGNLHGQPMSFLL
Drerio  all identical  ENSDARG00000071703  158ADINTPLTTPTGNIHGQPMSYLI
Dmelanogaster  all identical  FBgn0023535  169ADINLHSTSQSGNIHGMPVSFLL
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
144148HELIXlost
150152HELIXmight get lost (downstream of altered splice site)
153155TURNmight get lost (downstream of altered splice site)
171173HELIXmight get lost (downstream of altered splice site)
174179STRANDmight get lost (downstream of altered splice site)
183183BINDINGSubstrate.might get lost (downstream of altered splice site)
184193HELIXmight get lost (downstream of altered splice site)
196199STRANDmight get lost (downstream of altered splice site)
200206HELIXmight get lost (downstream of altered splice site)
202202CONFLICTE -> K (in Ref. 3; AAL71547).might get lost (downstream of altered splice site)
208220HELIXmight get lost (downstream of altered splice site)
221223STRANDmight get lost (downstream of altered splice site)
227232STRANDmight get lost (downstream of altered splice site)
230230MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
232232METALManganese 1.might get lost (downstream of altered splice site)
232232METALManganese 2.might get lost (downstream of altered splice site)
233235HELIXmight get lost (downstream of altered splice site)
234234METALManganese 2.might get lost (downstream of altered splice site)
238240TURNmight get lost (downstream of altered splice site)
243246STRANDmight get lost (downstream of altered splice site)
254267HELIXmight get lost (downstream of altered splice site)
270276STRANDmight get lost (downstream of altered splice site)
280282HELIXmight get lost (downstream of altered splice site)
286303HELIXmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 993 / 993
position (AA) of stopcodon in wt / mu AA sequence 331 / 331
position of stopcodon in wt / mu cDNA 1051 / 1051
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 59 / 59
chromosome 6
strand 1
last intron/exon boundary 885
theoretical NMD boundary in CDS 776
length of CDS 993
coding sequence (CDS) position 437
cDNA position
(for ins/del: last normal base / first normal base)
495
gDNA position
(for ins/del: last normal base / first normal base)
8183
chromosomal position
(for ins/del: last normal base / first normal base)
131902466
original gDNA sequence snippet TCCACTGACAACCACAAGTGGAAACTTGCATGGACAACCTG
altered gDNA sequence snippet TCCACTGACAACCACAAGTGTAAACTTGCATGGACAACCTG
original cDNA sequence snippet TCCACTGACAACCACAAGTGGAAACTTGCATGGACAACCTG
altered cDNA sequence snippet TCCACTGACAACCACAAGTGTAAACTTGCATGGACAACCTG
wildtype AA sequence MSAKSRTIGI IGAPFSKGQP RGGVEEGPTV LRKAGLLEKL KEQVTQNFLI LECDVKDYGD
LPFADIPNDS PFQIVKNPRS VGKASEQLAG KVAEVKKNGR ISLVLGGDHS LAIGSISGHA
RVHPDLGVIW VDAHTDINTP LTTTSGNLHG QPVSFLLKEL KGKIPDVPGF SWVTPCISAK
DIVYIGLRDV DPGEHYILKT LGIKYFSMTE VDRLGIGKVM EETLSYLLGR KKRPIHLSFD
VDGLDPSFTP ATGTPVVGGL TYREGLYITE EIYKTGLLSG LDIMEVNPSL GKTPEEVTRT
VNTAVAITLA CFGLAREGNH KPIDYLNPPK *
mutated AA sequence MSAKSRTIGI IGAPFSKGQP RGGVEEGPTV LRKAGLLEKL KEQVTQNFLI LECDVKDYGD
LPFADIPNDS PFQIVKNPRS VGKASEQLAG KVAEVKKNGR ISLVLGGDHS LAIGSISGHA
RVHPDLGVIW VDAHTDINTP LTTTSVNLHG QPVSFLLKEL KGKIPDVPGF SWVTPCISAK
DIVYIGLRDV DPGEHYILKT LGIKYFSMTE VDRLGIGKVM EETLSYLLGR KKRPIHLSFD
VDGLDPSFTP ATGTPVVGGL TYREGLYITE EIYKTGLLSG LDIMEVNPSL GKTPEEVTRT
VNTAVAITLA CFGLAREGNH KPIDYLNPPK *
speed 1.82 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: without_aae, prob: 1 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • known disease mutation at this position (HGMD CM950091)
  • known disease mutation: rs2394 (pathogenic)
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:131902466G>TN/A show variant in all transcripts   IGV
HGNC symbol MED23
Ensembl transcript ID ENST00000354577
Genbank transcript ID NM_001270521
UniProt peptide Q9ULK4
alteration type single base exchange
alteration region intron
DNA changes g.46904C>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS
N/A
frameshift N/A
known variant Reference ID: rs104893943
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs2394 (pathogenic for Arginase deficiency) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM950091)

known disease mutation at this position, please check HGMD for details (HGMD ID CM950091)
known disease mutation at this position, please check HGMD for details (HGMD ID CM950091)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.0950.998
5.7330.999
(flanking)-0.6390.703
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained468990.39mu: ATGCAAGTTTACACT GCAA|gttt
distance from splice site 6383
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
N/A
protein features no protein features affected
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now
N/A
position of start ATG in wt / mu cDNA 157 / 157
chromosome 6
strand -1
last intron/exon boundary 4252
theoretical NMD boundary in CDS 4045
length of CDS 4098
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)
N/A
gDNA position
(for ins/del: last normal base / first normal base)
46904
chromosomal position
(for ins/del: last normal base / first normal base)
131902466
original gDNA sequence snippet CAGGTTGTCCATGCAAGTTTCCACTTGTGGTTGTCAGTGGA
altered gDNA sequence snippet CAGGTTGTCCATGCAAGTTTACACTTGTGGTTGTCAGTGGA
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence METQLQSIFE EVVKTEVIEE AFPGMFMDTP EDEKTKLISC LGAFRQFWGG LSQESHEQCI
QWIVKFIHGQ HSPKRISFLY DCLAMAVETG LLPPRLVCES LINSDTLEWE RTQLWALTFK
LVRKIIGGVD YKGVRDLLKV ILEKILTIPN TVSSAVVQQL LAAREVIAYI LERNACLLPA
YFAVTEIRKL YPEGKLPHWL LGNLVSDFVD TFRPTARINS ICGRCSLLPV VNNSGAICNS
WKLDPATLRF PLKGLLPYDK DLFEPQTALL RYVLEQPYSR DMVCNMLGLN KQTLNIAQHK
QRCPVLEDQL VDLVVYAMER SETEEKFDDG GTSQLLWQHL SSQLIFFVLF QFASFPHMVL
SLHQKLAGRG LIKGRDHLMW VLLQFISGSI QKNALADFLP VMKLFDLLYP EKEYIPVPDI
NKPQSTHAFA MTCIWIHLNR KAQNDNSKLQ IPIPHSLRLH HEFLQQSLRN KSLQMNDYKI
ALLCNAYSTN SECFTLPMGA LVETIYGNGI MRIPLPGTNC MASGSITPLP MNLLDSLTVH
AKMSLIHSIA TRVIKLAHAK SSVALAPALV ETYSRLLVYM EIESLGIKGF ISQLLPTVFK
SHAWGILHTL LEMFSYRMHH IQPHYRVQLL SHLHTLAAVA QTNQNQLHLC VESTALRLIT
ALGSSEVQPQ FTRFLSDPKT VLSAESEELN RALILTLARA THVTDFFTGS DSIQGTWCKD
ILQTIMSFTP HNWASHTLSC FPGPLQAFFK QNNVPQESRF NLKKNVEEEY RKWKSMSNEN
DIITHFSMQG SPPLFLCLLW KMLLETDHIN QIGYRVLERI GARALVAHVR TFADFLVYEF
STSAGGQQLN KCIEILNDMV WKYNIVTLDR LILCLAMRSH EGNEAQVCYF IIQLLLLKPN
DFRNRVSDFV KENSPEHWLQ NDWHTKHMNY HKKYPEKLYF EGLAEQVDPP VQIQSPYLPI
YFGNVCLRFL PVFDIVIHRF LELLPVSKSL ETLLDHLGGL YKFHDRPVTY LYNTLHYYEM
HLRDRAFLKR KLVHAIIGSL KDNRPQGWCL SDTYLKCAMN AREENPWVPD DTYYCRLIGR
LVDTMAGKSP GPFPNCDWRF NEFPNPAAHA LHVTCVELMA LAVSGKEVGN ALLNVVLKSQ
PLVPRENITA WMNAIGLIIT ALPEPYWIVL HDRIVSVISS PSLTSETEWV GYPFRLFDFT
ACHQSYSEMS CSYTLALAHA VWHHSSIGQL SLIPKFLTEV LLPIVKTEFQ LLYVYHLVGP
FLQRFQQERT RCMIEIGVAF YDMLLNVDQC STHLNYMDPI CDFLYHMKYM FTGDSVKEQV
EKIICNLKPA LKLRLRFITH ISKMEPAAVP PQAMNSGSPA PQSNQ*
mutated AA sequence N/A
speed 1.34 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