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 6 transcript(s)...
Querying Taster for transcript #1: ENST00000421030
Querying Taster for transcript #2: ENST00000409996
Querying Taster for transcript #3: ENST00000395690
Querying Taster for transcript #4: ENST00000339553
Querying Taster for transcript #5: ENST00000545244
Querying Taster for transcript #6: ENST00000454855
MT speed 0 s - this script 2.850806 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
MROH7polymorphism_automatic2.19824158875781e-14simple_aaeaffectedY306Dsingle base exchangers1655519show file
MROH7polymorphism_automatic2.19824158875781e-14simple_aaeaffectedY306Dsingle base exchangers1655519show file
MROH7polymorphism_automatic2.19824158875781e-14simple_aaeaffectedY306Dsingle base exchangers1655519show file
MROH7polymorphism_automatic2.52134036982099e-07without_aaeaffectedsingle base exchangers1655519show file
MROH7polymorphism_automatic2.52134036982099e-07without_aaeaffectedsingle base exchangers1655519show file
MROH7polymorphism_automatic2.52134036982099e-07without_aaeaffectedsingle base exchangers1655519show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999978 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:55119515T>GN/A show variant in all transcripts   IGV
HGNC symbol MROH7
Ensembl transcript ID ENST00000421030
Genbank transcript ID NM_001039464
UniProt peptide Q68CQ1
alteration type single base exchange
alteration region CDS
DNA changes c.916T>G
cDNA.1201T>G
g.12057T>G
AA changes Y306D Score: 160 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 306
frameshift no
known variant Reference ID: rs1655519
databasehomozygous (G/G)heterozygousallele carriers
1000G47411831657
ExAC95541365923213
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-2.2370
0.6180.001
(flanking)0.3610.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased12049wt: 0.31 / mu: 0.40wt: GTATGTGACCCTGATTCCTGGCTCCAGCTATGGTATCAGCC
mu: GTATGTGACCCTGATTCCTGGCTCCAGCGATGGTATCAGCC		 ctgg|CTCC
Acc increased12052wt: 0.32 / mu: 0.43wt: TGTGACCCTGATTCCTGGCTCCAGCTATGGTATCAGCCTGC
mu: TGTGACCCTGATTCCTGGCTCCAGCGATGGTATCAGCCTGC		 gctc|CAGC
Acc marginally increased12048wt: 0.6951 / mu: 0.7443 (marginal change - not scored)wt: CGTATGTGACCCTGATTCCTGGCTCCAGCTATGGTATCAGC
mu: CGTATGTGACCCTGATTCCTGGCTCCAGCGATGGTATCAGC		 cctg|GCTC
Donor marginally increased12054wt: 0.9922 / mu: 0.9972 (marginal change - not scored)wt: GCTCCAGCTATGGTA
mu: GCTCCAGCGATGGTA		 TCCA|gcta
distance from splice site 316
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      306ASYVTLIPGSSYGISLHSSTHEPN
mutated  not conserved    306IPGSSDGISLHSSTHEP
Ptroglodytes  not conserved  ENSPTRG00000000773  306IPGSSDGISLHSSTHGP
Mmulatta  no alignment  ENSMMUG00000032085  n/a
Fcatus  no alignment  ENSFCAG00000003985  n/a
Mmusculus  not conserved  ENSMUSG00000047502  284IPGSSEGLSLQSSARVP
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no alignment  FBgn0040236  n/a
Celegans  no alignment  C34G6.1  n/a
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
252355COMPBIASSer-rich.lost
318318CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
438438CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
583583CONFLICTV -> A (in Ref. 1; BAC85285).might get lost (downstream of altered splice site)
586586CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
593613TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
767787TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
957995REPEATHEAT 1.might get lost (downstream of altered splice site)
10361074REPEATHEAT 2.might get lost (downstream of altered splice site)
10791117REPEATHEAT 3.might get lost (downstream of altered splice site)
10991099CONFLICTV -> D (in Ref. 2; CAH18687, 1; BAC87334 and 4; AAH29191).might get lost (downstream of altered splice site)
11251162REPEATHEAT 4.might get lost (downstream of altered splice site)
11551155CONFLICTR -> C (in Ref. 1; BAC87334).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3972 / 3972
position (AA) of stopcodon in wt / mu AA sequence 1324 / 1324
position of stopcodon in wt / mu cDNA 4257 / 4257
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 286 / 286
chromosome 1
strand 1
last intron/exon boundary 4016
theoretical NMD boundary in CDS 3680
length of CDS 3972
coding sequence (CDS) position 916
cDNA position
(for ins/del: last normal base / first normal base)		 1201
gDNA position
(for ins/del: last normal base / first normal base)		 12057
chromosomal position
(for ins/del: last normal base / first normal base)		 55119515
original gDNA sequence snippet CCCTGATTCCTGGCTCCAGCTATGGTATCAGCCTGCACTCC
altered gDNA sequence snippet CCCTGATTCCTGGCTCCAGCGATGGTATCAGCCTGCACTCC
original cDNA sequence snippet CCCTGATTCCTGGCTCCAGCTATGGTATCAGCCTGCACTCC
altered cDNA sequence snippet CCCTGATTCCTGGCTCCAGCGATGGTATCAGCCTGCACTCC
wildtype AA sequence MALSPGANLV FHEDPKMTPS PPSCGAPGLG SGTIPQPHPD MAQVPMLNLL PSPGLALVPD
LNDSLSPVSG EASGLVSENT PRPDDSRAIA PASLQITSSC SGEALDLDSK DVSRPDSQGR
LCPASNPILS PSSTEAPRLS SGNHPQSNSE DAFKCLSSKI FKLGQRNSNP SRHELNPFIR
HHSREGLVLG HCISRPSSKA LLIPTSNSSL DLDSNPLLNM GSRNTSKLNL NVAPDSHGTL
IPDTNETITL ASHNISESVS KGAFSTTWST SSKETMNVAS SGHSRSDLSV TITQASYVTL
IPGSSYGISL HSSTHEPNST ISPPSCMTLI LGSNETLSLD SSLLFSDTST LTLSSQQDDA
KDNSIHTVPL EENLESWSEM ASIKVGQFPL GFPISNPAGK DAVTLQGIPE GAFDEVTSCL
VKVPEKTEGG NNMALVENVT TLQKSQDLLE AEGEKKTMIK KIMRQIQEEP LDSLSSSVRK
QAMEILTQLS HTQPTLGMRE RSELVNVCVH SVFSLPSVQA MQEKDEAKAE TIQALYHQTL
EALQTLLKAL FIEDPTPAGL KSILEALGPW MNSGKAHERA RAVNTNVSVL NHMLLTLPFF
MPLGFPALGL LLGRLILHIG DPDEEIGCEA LDGIIILYTI LELQKRARDK EETNKKELYE
SNKHFLGPYN PVSPCQNILR VIEEFGDFLG PQQIKDLLLA ALEGLKGSSE APGKDSREMM
QLASEVMLSS VLEWYRHRAL EVIPEIMQGI YMQLSHIQEP RARQVALLPV SLLASSFMTE
VVVALLMCPL PLNSNGAEMW RQLILCKPSC DVRDLLDLLL GSLKEKPVTK EGRASIVPLA
AASGLCELLS VNSCMGRVRR IYPQLLLALL IQVHYHIGLN LPGCVAPPKD TKKGAQPSPF
VPVRWVVKVV KTLLLRMGCS YETTFLEDQG GWELMEQVES HHRGVALLAR AMVQYSCQEL
CRILYLLIPL LERGDEKHRI TATAFFVELL QMEQVRRIPE EYSLGRMAEG LSHHDPIMKV
LSIRGLVILA RRSEKTAKVK ALLPSMVKGL KNMDGMLVVE AVHNLKAVFK GRDQKLMDSA
VYVEMLQILL PHFSDAREVV RSSCINLYGK VVQKLRAPRT QAMEEQLVST LVPLLLTMQE
GNSKVSQKCV KTLLRCSYFM AWELPKRAYS RKPWDNQQQT VAKICKCLVN THRDSAFIFL
SQSLEYAKNS RASLRKCSVM FIGSLVPCME SIMTEDRLNE VKAALDNLRH DPEASVCIYA
AQVQDHILAS CWQNSWLPHG NSWVCYSATT HRWSPSCENL PTSHQRRSWI MQALGSWKMS
LKK*
mutated AA sequence MALSPGANLV FHEDPKMTPS PPSCGAPGLG SGTIPQPHPD MAQVPMLNLL PSPGLALVPD
LNDSLSPVSG EASGLVSENT PRPDDSRAIA PASLQITSSC SGEALDLDSK DVSRPDSQGR
LCPASNPILS PSSTEAPRLS SGNHPQSNSE DAFKCLSSKI FKLGQRNSNP SRHELNPFIR
HHSREGLVLG HCISRPSSKA LLIPTSNSSL DLDSNPLLNM GSRNTSKLNL NVAPDSHGTL
IPDTNETITL ASHNISESVS KGAFSTTWST SSKETMNVAS SGHSRSDLSV TITQASYVTL
IPGSSDGISL HSSTHEPNST ISPPSCMTLI LGSNETLSLD SSLLFSDTST LTLSSQQDDA
KDNSIHTVPL EENLESWSEM ASIKVGQFPL GFPISNPAGK DAVTLQGIPE GAFDEVTSCL
VKVPEKTEGG NNMALVENVT TLQKSQDLLE AEGEKKTMIK KIMRQIQEEP LDSLSSSVRK
QAMEILTQLS HTQPTLGMRE RSELVNVCVH SVFSLPSVQA MQEKDEAKAE TIQALYHQTL
EALQTLLKAL FIEDPTPAGL KSILEALGPW MNSGKAHERA RAVNTNVSVL NHMLLTLPFF
MPLGFPALGL LLGRLILHIG DPDEEIGCEA LDGIIILYTI LELQKRARDK EETNKKELYE
SNKHFLGPYN PVSPCQNILR VIEEFGDFLG PQQIKDLLLA ALEGLKGSSE APGKDSREMM
QLASEVMLSS VLEWYRHRAL EVIPEIMQGI YMQLSHIQEP RARQVALLPV SLLASSFMTE
VVVALLMCPL PLNSNGAEMW RQLILCKPSC DVRDLLDLLL GSLKEKPVTK EGRASIVPLA
AASGLCELLS VNSCMGRVRR IYPQLLLALL IQVHYHIGLN LPGCVAPPKD TKKGAQPSPF
VPVRWVVKVV KTLLLRMGCS YETTFLEDQG GWELMEQVES HHRGVALLAR AMVQYSCQEL
CRILYLLIPL LERGDEKHRI TATAFFVELL QMEQVRRIPE EYSLGRMAEG LSHHDPIMKV
LSIRGLVILA RRSEKTAKVK ALLPSMVKGL KNMDGMLVVE AVHNLKAVFK GRDQKLMDSA
VYVEMLQILL PHFSDAREVV RSSCINLYGK VVQKLRAPRT QAMEEQLVST LVPLLLTMQE
GNSKVSQKCV KTLLRCSYFM AWELPKRAYS RKPWDNQQQT VAKICKCLVN THRDSAFIFL
SQSLEYAKNS RASLRKCSVM FIGSLVPCME SIMTEDRLNE VKAALDNLRH DPEASVCIYA
AQVQDHILAS CWQNSWLPHG NSWVCYSATT HRWSPSCENL PTSHQRRSWI MQALGSWKMS
LKK*
speed 0.17 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: 0.999999999999978 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:55119515T>GN/A show variant in all transcripts   IGV
HGNC symbol MROH7
Ensembl transcript ID ENST00000395690
Genbank transcript ID N/A
UniProt peptide Q68CQ1
alteration type single base exchange
alteration region CDS
DNA changes c.916T>G
cDNA.1172T>G
g.12057T>G
AA changes Y306D Score: 160 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 306
frameshift no
known variant Reference ID: rs1655519
databasehomozygous (G/G)heterozygousallele carriers
1000G47411831657
ExAC95541365923213
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-2.2370
0.6180.001
(flanking)0.3610.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased12049wt: 0.31 / mu: 0.40wt: GTATGTGACCCTGATTCCTGGCTCCAGCTATGGTATCAGCC
mu: GTATGTGACCCTGATTCCTGGCTCCAGCGATGGTATCAGCC		 ctgg|CTCC
Acc increased12052wt: 0.32 / mu: 0.43wt: TGTGACCCTGATTCCTGGCTCCAGCTATGGTATCAGCCTGC
mu: TGTGACCCTGATTCCTGGCTCCAGCGATGGTATCAGCCTGC		 gctc|CAGC
Acc marginally increased12048wt: 0.6951 / mu: 0.7443 (marginal change - not scored)wt: CGTATGTGACCCTGATTCCTGGCTCCAGCTATGGTATCAGC
mu: CGTATGTGACCCTGATTCCTGGCTCCAGCGATGGTATCAGC		 cctg|GCTC
Donor marginally increased12054wt: 0.9922 / mu: 0.9972 (marginal change - not scored)wt: GCTCCAGCTATGGTA
mu: GCTCCAGCGATGGTA		 TCCA|gcta
distance from splice site 316
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      306ASYVTLIPGSSYGISLHSSTHEPN
mutated  not conserved    306IPGSSDGISLHSSTHEP
Ptroglodytes  not conserved  ENSPTRG00000000773  306IPGSSDGISLHSSTHGP
Mmulatta  no alignment  ENSMMUG00000032085  n/a
Fcatus  no alignment  ENSFCAG00000003985  n/a
Mmusculus  not conserved  ENSMUSG00000047502  284IPGSSEGLSLQSSARVP
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no alignment  FBgn0040236  n/a
Celegans  no alignment  C34G6.1  n/a
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
252355COMPBIASSer-rich.lost
318318CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
438438CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
583583CONFLICTV -> A (in Ref. 1; BAC85285).might get lost (downstream of altered splice site)
586586CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
593613TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
767787TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
957995REPEATHEAT 1.might get lost (downstream of altered splice site)
10361074REPEATHEAT 2.might get lost (downstream of altered splice site)
10791117REPEATHEAT 3.might get lost (downstream of altered splice site)
10991099CONFLICTV -> D (in Ref. 2; CAH18687, 1; BAC87334 and 4; AAH29191).might get lost (downstream of altered splice site)
11251162REPEATHEAT 4.might get lost (downstream of altered splice site)
11551155CONFLICTR -> C (in Ref. 1; BAC87334).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3093 / 3093
position (AA) of stopcodon in wt / mu AA sequence 1031 / 1031
position of stopcodon in wt / mu cDNA 3349 / 3349
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 257 / 257
chromosome 1
strand 1
last intron/exon boundary 3259
theoretical NMD boundary in CDS 2952
length of CDS 3093
coding sequence (CDS) position 916
cDNA position
(for ins/del: last normal base / first normal base)		 1172
gDNA position
(for ins/del: last normal base / first normal base)		 12057
chromosomal position
(for ins/del: last normal base / first normal base)		 55119515
original gDNA sequence snippet CCCTGATTCCTGGCTCCAGCTATGGTATCAGCCTGCACTCC
altered gDNA sequence snippet CCCTGATTCCTGGCTCCAGCGATGGTATCAGCCTGCACTCC
original cDNA sequence snippet CCCTGATTCCTGGCTCCAGCTATGGTATCAGCCTGCACTCC
altered cDNA sequence snippet CCCTGATTCCTGGCTCCAGCGATGGTATCAGCCTGCACTCC
wildtype AA sequence MALSPGANLV FHEDPKMTPS PPSCGAPGLG SGTIPQPHPD MAQVPMLNLL PSPGLALVPD
LNDSLSPVSG EASGLVSENT PRPDDSRAIA PASLQITSSC SGEALDLDSK DVSRPDSQGR
LCPASNPILS PSSTEAPRLS SGNHPQSNSE DAFKCLSSKI FKLGQRNSNP SRHELNPFIR
HHSREGLVLG HCISRPSSKA LLIPTSNSSL DLDSNPLLNM GSRNTSKLNL NVAPDSHGTL
IPDTNETITL ASHNISESVS KGAFSTTWST SSKETMNVAS SGHSRSDLSV TITQASYVTL
IPGSSYGISL HSSTHEPNST ISPPSCMTLI LGSNETLSLD SSLLFSDTST LTLSSQQDDA
KDNSIHTVPL EENLESWSEM ASIKVGQFPL GFPISNPAGK DAVTLQGIPE GAFDEVTSCL
VKVPEKTEGG NNMALVENVT TLQKSQDLLE AEGEKKTMIK KIMRQIQEEP LDSLSSSVRK
QAMEILTQLS HTQPTLGMRE RSELVNVCVH SVFSLPSVQA MQEKDEAKAE TIQALYHQTL
EALQTLLKAL FIEDPTPAGL KSILEALGPW MNSGKAHERA RAVNTNVSVL NHMLLTLPFF
MPLGFPALGL LLGRLILHIG DPDEEIGCEA LDGIIILYTI LELQKRARDK EETNKKELYE
SNKHFLGPYN PVSPCQNILR VIEEFGDFLG PQQIKDLLLA ALEGLKGSSE APGKDSREMM
QLASEVMLSS VLEWYRHRAL EVIPEIMQGI YMQLSHIQEP RARQVALLPV SLLASSFMTE
VVVALLMCPL PLNSNGAEMW RQLILCKPSC DVRDLLDLLL GSLKEKPVTK EGRASIVPLA
AASGLCELLS VNSCMGRVRR IYPQLLLALL IQVHYHIGLN LPGCVAPPKD TKKGAQPSPF
VPVRWVVKVV KTLLLRMGCS YETTFLEDQG GWELMEQVES HHRGVALLAR AMVQYSCQEL
CRILYLLIPL LERGDEKHRI TATAFFVEQP CEEGIVILML RPQDLMGKAT TSSHRGSELE
SDTLSFATWC *
mutated AA sequence MALSPGANLV FHEDPKMTPS PPSCGAPGLG SGTIPQPHPD MAQVPMLNLL PSPGLALVPD
LNDSLSPVSG EASGLVSENT PRPDDSRAIA PASLQITSSC SGEALDLDSK DVSRPDSQGR
LCPASNPILS PSSTEAPRLS SGNHPQSNSE DAFKCLSSKI FKLGQRNSNP SRHELNPFIR
HHSREGLVLG HCISRPSSKA LLIPTSNSSL DLDSNPLLNM GSRNTSKLNL NVAPDSHGTL
IPDTNETITL ASHNISESVS KGAFSTTWST SSKETMNVAS SGHSRSDLSV TITQASYVTL
IPGSSDGISL HSSTHEPNST ISPPSCMTLI LGSNETLSLD SSLLFSDTST LTLSSQQDDA
KDNSIHTVPL EENLESWSEM ASIKVGQFPL GFPISNPAGK DAVTLQGIPE GAFDEVTSCL
VKVPEKTEGG NNMALVENVT TLQKSQDLLE AEGEKKTMIK KIMRQIQEEP LDSLSSSVRK
QAMEILTQLS HTQPTLGMRE RSELVNVCVH SVFSLPSVQA MQEKDEAKAE TIQALYHQTL
EALQTLLKAL FIEDPTPAGL KSILEALGPW MNSGKAHERA RAVNTNVSVL NHMLLTLPFF
MPLGFPALGL LLGRLILHIG DPDEEIGCEA LDGIIILYTI LELQKRARDK EETNKKELYE
SNKHFLGPYN PVSPCQNILR VIEEFGDFLG PQQIKDLLLA ALEGLKGSSE APGKDSREMM
QLASEVMLSS VLEWYRHRAL EVIPEIMQGI YMQLSHIQEP RARQVALLPV SLLASSFMTE
VVVALLMCPL PLNSNGAEMW RQLILCKPSC DVRDLLDLLL GSLKEKPVTK EGRASIVPLA
AASGLCELLS VNSCMGRVRR IYPQLLLALL IQVHYHIGLN LPGCVAPPKD TKKGAQPSPF
VPVRWVVKVV KTLLLRMGCS YETTFLEDQG GWELMEQVES HHRGVALLAR AMVQYSCQEL
CRILYLLIPL LERGDEKHRI TATAFFVEQP CEEGIVILML RPQDLMGKAT TSSHRGSELE
SDTLSFATWC *
speed 0.17 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: 0.999999999999978 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:55119515T>GN/A show variant in all transcripts   IGV
HGNC symbol MROH7
Ensembl transcript ID ENST00000339553
Genbank transcript ID N/A
UniProt peptide Q68CQ1
alteration type single base exchange
alteration region CDS
DNA changes c.916T>G
cDNA.1194T>G
g.12057T>G
AA changes Y306D Score: 160 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 306
frameshift no
known variant Reference ID: rs1655519
databasehomozygous (G/G)heterozygousallele carriers
1000G47411831657
ExAC95541365923213
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-2.2370
0.6180.001
(flanking)0.3610.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased12049wt: 0.31 / mu: 0.40wt: GTATGTGACCCTGATTCCTGGCTCCAGCTATGGTATCAGCC
mu: GTATGTGACCCTGATTCCTGGCTCCAGCGATGGTATCAGCC		 ctgg|CTCC
Acc increased12052wt: 0.32 / mu: 0.43wt: TGTGACCCTGATTCCTGGCTCCAGCTATGGTATCAGCCTGC
mu: TGTGACCCTGATTCCTGGCTCCAGCGATGGTATCAGCCTGC		 gctc|CAGC
Acc marginally increased12048wt: 0.6951 / mu: 0.7443 (marginal change - not scored)wt: CGTATGTGACCCTGATTCCTGGCTCCAGCTATGGTATCAGC
mu: CGTATGTGACCCTGATTCCTGGCTCCAGCGATGGTATCAGC		 cctg|GCTC
Donor marginally increased12054wt: 0.9922 / mu: 0.9972 (marginal change - not scored)wt: GCTCCAGCTATGGTA
mu: GCTCCAGCGATGGTA		 TCCA|gcta
distance from splice site 316
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      306ASYVTLIPGSSYGISLHSSTHEPN
mutated  not conserved    306IPGSSDGISLHSSTHEP
Ptroglodytes  not conserved  ENSPTRG00000000773  306IPGSSDGISLHSSTHGP
Mmulatta  no alignment  ENSMMUG00000032085  n/a
Fcatus  no alignment  ENSFCAG00000003985  n/a
Mmusculus  not conserved  ENSMUSG00000047502  284IPGSSEGLSLQSSARVP
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no alignment  FBgn0040236  n/a
Celegans  no alignment  C34G6.1  n/a
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
252355COMPBIASSer-rich.lost
318318CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
438438CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
583583CONFLICTV -> A (in Ref. 1; BAC85285).might get lost (downstream of altered splice site)
586586CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
593613TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
767787TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
957995REPEATHEAT 1.might get lost (downstream of altered splice site)
10361074REPEATHEAT 2.might get lost (downstream of altered splice site)
10791117REPEATHEAT 3.might get lost (downstream of altered splice site)
10991099CONFLICTV -> D (in Ref. 2; CAH18687, 1; BAC87334 and 4; AAH29191).might get lost (downstream of altered splice site)
11251162REPEATHEAT 4.might get lost (downstream of altered splice site)
11551155CONFLICTR -> C (in Ref. 1; BAC87334).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3135 / 3135
position (AA) of stopcodon in wt / mu AA sequence 1045 / 1045
position of stopcodon in wt / mu cDNA 3413 / 3413
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 1
strand 1
last intron/exon boundary 3281
theoretical NMD boundary in CDS 2952
length of CDS 3135
coding sequence (CDS) position 916
cDNA position
(for ins/del: last normal base / first normal base)		 1194
gDNA position
(for ins/del: last normal base / first normal base)		 12057
chromosomal position
(for ins/del: last normal base / first normal base)		 55119515
original gDNA sequence snippet CCCTGATTCCTGGCTCCAGCTATGGTATCAGCCTGCACTCC
altered gDNA sequence snippet CCCTGATTCCTGGCTCCAGCGATGGTATCAGCCTGCACTCC
original cDNA sequence snippet CCCTGATTCCTGGCTCCAGCTATGGTATCAGCCTGCACTCC
altered cDNA sequence snippet CCCTGATTCCTGGCTCCAGCGATGGTATCAGCCTGCACTCC
wildtype AA sequence MALSPGANLV FHEDPKMTPS PPSCGAPGLG SGTIPQPHPD MAQVPMLNLL PSPGLALVPD
LNDSLSPVSG EASGLVSENT PRPDDSRAIA PASLQITSSC SGEALDLDSK DVSRPDSQGR
LCPASNPILS PSSTEAPRLS SGNHPQSNSE DAFKCLSSKI FKLGQRNSNP SRHELNPFIR
HHSREGLVLG HCISRPSSKA LLIPTSNSSL DLDSNPLLNM GSRNTSKLNL NVAPDSHGTL
IPDTNETITL ASHNISESVS KGAFSTTWST SSKETMNVAS SGHSRSDLSV TITQASYVTL
IPGSSYGISL HSSTHEPNST ISPPSCMTLI LGSNETLSLD SSLLFSDTST LTLSSQQDDA
KDNSIHTVPL EENLESWSEM ASIKVGQFPL GFPISNPAGK DAVTLQGIPE GAFDEVTSCL
VKVPEKTEGG NNMALVENVT TLQKSQDLLE AEGEKKTMIK KIMRQIQEEP LDSLSSSVRK
QAMEILTQLS HTQPTLGMRE RSELVNVCVH SVFSLPSVQA MQEKDEAKAE TIQALYHQTL
EALQTLLKAL FIEDPTPAGL KSILEALGPW MNSGKAHERA RAVNTNVSVL NHMLLTLPFF
MPLGFPALGL LLGRLILHIG DPDEEIGCEA LDGIIILYTI LELQKRARDK EETNKKELYE
SNKHFLGPYN PVSPCQNILR VIEEFGDFLG PQQIKDLLLA ALEGLKGSSE APGKDSREMM
QLASEVMLSS VLEWYRHRAL EVIPEIMQGI YMQLSHIQEP RARQVALLPV SLLASSFMTE
VVVALLMCPL PLNSNGAEMW RQLILCKPSC DVRDLLDLLL GSLKEKPVTK EGRASIVPLA
AASGLCELLS VNSCMGRVRR IYPQLLLALL IQVHYHIGLN LPGCVAPPKD TKKGAQPSPF
VPVRWVVKVV KTLLLRMGCS YETTFLEDQG GWELMEQVES HHRGVALLAR AMVQYSCQEL
CRILYLLIPL LERGDEKHRI TATAFFVEQP CEEGIVILML RISWERQQQA VTGARSWRVT
HSALPHGADG HQTETSSNLL VLQV*
mutated AA sequence MALSPGANLV FHEDPKMTPS PPSCGAPGLG SGTIPQPHPD MAQVPMLNLL PSPGLALVPD
LNDSLSPVSG EASGLVSENT PRPDDSRAIA PASLQITSSC SGEALDLDSK DVSRPDSQGR
LCPASNPILS PSSTEAPRLS SGNHPQSNSE DAFKCLSSKI FKLGQRNSNP SRHELNPFIR
HHSREGLVLG HCISRPSSKA LLIPTSNSSL DLDSNPLLNM GSRNTSKLNL NVAPDSHGTL
IPDTNETITL ASHNISESVS KGAFSTTWST SSKETMNVAS SGHSRSDLSV TITQASYVTL
IPGSSDGISL HSSTHEPNST ISPPSCMTLI LGSNETLSLD SSLLFSDTST LTLSSQQDDA
KDNSIHTVPL EENLESWSEM ASIKVGQFPL GFPISNPAGK DAVTLQGIPE GAFDEVTSCL
VKVPEKTEGG NNMALVENVT TLQKSQDLLE AEGEKKTMIK KIMRQIQEEP LDSLSSSVRK
QAMEILTQLS HTQPTLGMRE RSELVNVCVH SVFSLPSVQA MQEKDEAKAE TIQALYHQTL
EALQTLLKAL FIEDPTPAGL KSILEALGPW MNSGKAHERA RAVNTNVSVL NHMLLTLPFF
MPLGFPALGL LLGRLILHIG DPDEEIGCEA LDGIIILYTI LELQKRARDK EETNKKELYE
SNKHFLGPYN PVSPCQNILR VIEEFGDFLG PQQIKDLLLA ALEGLKGSSE APGKDSREMM
QLASEVMLSS VLEWYRHRAL EVIPEIMQGI YMQLSHIQEP RARQVALLPV SLLASSFMTE
VVVALLMCPL PLNSNGAEMW RQLILCKPSC DVRDLLDLLL GSLKEKPVTK EGRASIVPLA
AASGLCELLS VNSCMGRVRR IYPQLLLALL IQVHYHIGLN LPGCVAPPKD TKKGAQPSPF
VPVRWVVKVV KTLLLRMGCS YETTFLEDQG GWELMEQVES HHRGVALLAR AMVQYSCQEL
CRILYLLIPL LERGDEKHRI TATAFFVEQP CEEGIVILML RISWERQQQA VTGARSWRVT
HSALPHGADG HQTETSSNLL VLQV*
speed 0.32 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: without_aae, prob: 0.999999747865963 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:55119515T>GN/A show variant in all transcripts   IGV
HGNC symbol MROH7
Ensembl transcript ID ENST00000409996
Genbank transcript ID N/A
UniProt peptide Q68CQ1
alteration type single base exchange
alteration region intron
DNA changes g.12057T>G
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs1655519
databasehomozygous (G/G)heterozygousallele carriers
1000G47411831657
ExAC95541365923213
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-2.2370
0.6180.001
(flanking)0.3610.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change before start ATG (at aa -21) |
effectgDNA positionscoredetection sequence  exon-intron border
Acc increased12049wt: 0.31 / mu: 0.40wt: GTATGTGACCCTGATTCCTGGCTCCAGCTATGGTATCAGCC
mu: GTATGTGACCCTGATTCCTGGCTCCAGCGATGGTATCAGCC		 ctgg|CTCC
Acc increased12052wt: 0.32 / mu: 0.43wt: TGTGACCCTGATTCCTGGCTCCAGCTATGGTATCAGCCTGC
mu: TGTGACCCTGATTCCTGGCTCCAGCGATGGTATCAGCCTGC		 gctc|CAGC
Acc marginally increased12048wt: 0.6951 / mu: 0.7443 (marginal change - not scored)wt: CGTATGTGACCCTGATTCCTGGCTCCAGCTATGGTATCAGC
mu: CGTATGTGACCCTGATTCCTGGCTCCAGCGATGGTATCAGC		 cctg|GCTC
Donor marginally increased12054wt: 0.9922 / mu: 0.9972 (marginal change - not scored)wt: GCTCCAGCTATGGTA
mu: GCTCCAGCGATGGTA		 TCCA|gcta
distance from splice site 11325
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
252355COMPBIASSer-rich.might get lost (downstream of altered splice site)
318318CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
438438CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
583583CONFLICTV -> A (in Ref. 1; BAC85285).might get lost (downstream of altered splice site)
586586CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
593613TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
767787TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
957995REPEATHEAT 1.might get lost (downstream of altered splice site)
10361074REPEATHEAT 2.might get lost (downstream of altered splice site)
10791117REPEATHEAT 3.might get lost (downstream of altered splice site)
10991099CONFLICTV -> D (in Ref. 2; CAH18687, 1; BAC87334 and 4; AAH29191).might get lost (downstream of altered splice site)
11251162REPEATHEAT 4.might get lost (downstream of altered splice site)
11551155CONFLICTR -> C (in Ref. 1; BAC87334).might get lost (downstream of altered splice site)
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 227 / 227
chromosome 1
strand 1
last intron/exon boundary 2661
theoretical NMD boundary in CDS 2384
length of CDS 2676
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)		 12057
chromosomal position
(for ins/del: last normal base / first normal base)		 55119515
original gDNA sequence snippet CCCTGATTCCTGGCTCCAGCTATGGTATCAGCCTGCACTCC
altered gDNA sequence snippet CCCTGATTCCTGGCTCCAGCGATGGTATCAGCCTGCACTCC
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MALVENVTTL QKSQDLLEAE GEKKTMIKKI MRQIQEEPLD SLSSSVRKQA MEILTQLSHT
QPTLGMRERS ELVNVCVHSV FSLPSVQAMQ EKDEAKAETI QALYHQTLEA LQTLLKALFI
EDPTPAGLKS ILEALGPWMN SGKAHERARA VNTNVSVLNH MLLTLPFFMP LGFPALGLLL
GRLILHIGDP DEEIGCEALD GIIILYTILE LQKRARDKEE TNKKELYESN KHFLGPYNPV
SPCQNILRVI EEFGDFLGPQ QIKDLLLAAL EGLKGSSEAP GKDSREMMQL ASEVMLSSVL
EWYRHRALEV IPEIMQGIYM QLSHIQEPRA RQVALLPVSL LASSFMTEVV VALLMCPLPL
NSNGAEMWRQ LILCKPSCDV RDLLDLLLGS LKEKPVTKEG RASIVPLAAA SGLCELLSVN
SCMGRVRRIY PQLLLALLIQ VHYHIGLNLP GCVAPPKDTK KGAQPSPFVP VRWVVKVVKT
LLLRMGCSYE TTFLEDQGGW ELMEQVESHH RGVALLARAM VQYSCQELCR ILYLLIPLLE
RGDEKHRITA TAFFVELLQM EQVRRIPEEY SLGRMAEGLS HHDPIMKVLS IRGLVILARR
SEKTAKVKAL LPSMVKGLKN MDGMLVVEAV HNLKAVFKGR DQKLMDSAVY VEMLQILLPH
FSDAREVVRS SCINLYGKVV QKLRAPRTQA MEEQLVSTLV PLLLTMQEGN SKVSQKCVKT
LLRCSYFMAW ELPKRAYSRK PWDNQQQTVA KICKCLVNTH RDSAFIFLSQ SLEYAKNSRA
SLRKCSVMFI GSLVPCMESI MTEDRLNEVK AALDNLRHDP EASVCIYAAQ VQDHILASCW
QNSWLPHGNS WVCYSATTHR WSPSCENLPT SHQRRSWIMQ ALGSWKMSLK K*
mutated AA sequence N/A
speed 0.36 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

polymorphism

 Model: without_aae, prob: 0.999999747865963 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:55119515T>GN/A show variant in all transcripts   IGV
HGNC symbol MROH7
Ensembl transcript ID ENST00000545244
Genbank transcript ID N/A
UniProt peptide Q68CQ1
alteration type single base exchange
alteration region intron
DNA changes g.12057T>G
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs1655519
databasehomozygous (G/G)heterozygousallele carriers
1000G47411831657
ExAC95541365923213
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-2.2370
0.6180.001
(flanking)0.3610.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change before start ATG (at aa -21) |
effectgDNA positionscoredetection sequence  exon-intron border
Acc increased12049wt: 0.31 / mu: 0.40wt: GTATGTGACCCTGATTCCTGGCTCCAGCTATGGTATCAGCC
mu: GTATGTGACCCTGATTCCTGGCTCCAGCGATGGTATCAGCC		 ctgg|CTCC
Acc increased12052wt: 0.32 / mu: 0.43wt: TGTGACCCTGATTCCTGGCTCCAGCTATGGTATCAGCCTGC
mu: TGTGACCCTGATTCCTGGCTCCAGCGATGGTATCAGCCTGC		 gctc|CAGC
Acc marginally increased12048wt: 0.6951 / mu: 0.7443 (marginal change - not scored)wt: CGTATGTGACCCTGATTCCTGGCTCCAGCTATGGTATCAGC
mu: CGTATGTGACCCTGATTCCTGGCTCCAGCGATGGTATCAGC		 cctg|GCTC
Donor marginally increased12054wt: 0.9922 / mu: 0.9972 (marginal change - not scored)wt: GCTCCAGCTATGGTA
mu: GCTCCAGCGATGGTA		 TCCA|gcta
distance from splice site 11325
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
252355COMPBIASSer-rich.might get lost (downstream of altered splice site)
318318CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
438438CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
583583CONFLICTV -> A (in Ref. 1; BAC85285).might get lost (downstream of altered splice site)
586586CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
593613TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
767787TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
957995REPEATHEAT 1.might get lost (downstream of altered splice site)
10361074REPEATHEAT 2.might get lost (downstream of altered splice site)
10791117REPEATHEAT 3.might get lost (downstream of altered splice site)
10991099CONFLICTV -> D (in Ref. 2; CAH18687, 1; BAC87334 and 4; AAH29191).might get lost (downstream of altered splice site)
11251162REPEATHEAT 4.might get lost (downstream of altered splice site)
11551155CONFLICTR -> C (in Ref. 1; BAC87334).might get lost (downstream of altered splice site)
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 242 / 242
chromosome 1
strand 1
last intron/exon boundary 1795
theoretical NMD boundary in CDS 1503
length of CDS 1623
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)		 12057
chromosomal position
(for ins/del: last normal base / first normal base)		 55119515
original gDNA sequence snippet CCCTGATTCCTGGCTCCAGCTATGGTATCAGCCTGCACTCC
altered gDNA sequence snippet CCCTGATTCCTGGCTCCAGCGATGGTATCAGCCTGCACTCC
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MALVENVTTL QKSQDLLEAE GEKKTMIKKI MRQIQEEPLD SLSSSVRKQA MEILTQLSHT
QPTLGMRERS ELVNVCVHSV FSLPSVQAMQ EKDEAKAETI QALYHQTLEA LQTLLKALFI
EDPTPAGLKS ILEALGPWMN SGKAHERARA VNTNVSVLNH MLLTLPFFMP LGFPALGLLL
GRLILHIGDP DEEIGCEALD GIIILYTILE LQKRARDKEE TNKKELYESN KHFLGPYNPV
SPCQNILRVI EEFGDFLGPQ QIKDLLLAAL EGLKGSSEAP GKDSREMMQL ASEVMLSSVL
EWYRHRALEV IPEIMQGIYM QLSHIQEPRA RQVALLPVSL LASSFMTEVV VALLMCPLPL
NSNGAEMWRQ LILCKPSCDV RDLLDLLLGS LKEKPVTKEG RASIVPLAAA SGLCELLSVN
SCMGRVRRIY PQLLLALLIQ VHYHIGLNLP GCVAPPKDTK KGAQPSPFVP VRWVVKVVKT
LLLRMGCSYE TTFLEDQGGW ELMEQVESHH RGVALLASSS RWSRCAGSPR NTLWGGWQKA
*
mutated AA sequence N/A
speed 0.10 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: without_aae, prob: 0.999999747865963 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:55119515T>GN/A show variant in all transcripts   IGV
HGNC symbol MROH7
Ensembl transcript ID ENST00000454855
Genbank transcript ID N/A
UniProt peptide Q68CQ1
alteration type single base exchange
alteration region intron
DNA changes g.12057T>G
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs1655519
databasehomozygous (G/G)heterozygousallele carriers
1000G47411831657
ExAC95541365923213
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-2.2370
0.6180.001
(flanking)0.3610.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change before start ATG (at aa -70) |
effectgDNA positionscoredetection sequence  exon-intron border
Acc increased12049wt: 0.31 / mu: 0.40wt: GTATGTGACCCTGATTCCTGGCTCCAGCTATGGTATCAGCC
mu: GTATGTGACCCTGATTCCTGGCTCCAGCGATGGTATCAGCC		 ctgg|CTCC
Acc increased12052wt: 0.32 / mu: 0.43wt: TGTGACCCTGATTCCTGGCTCCAGCTATGGTATCAGCCTGC
mu: TGTGACCCTGATTCCTGGCTCCAGCGATGGTATCAGCCTGC		 gctc|CAGC
Acc marginally increased12048wt: 0.6951 / mu: 0.7443 (marginal change - not scored)wt: CGTATGTGACCCTGATTCCTGGCTCCAGCTATGGTATCAGC
mu: CGTATGTGACCCTGATTCCTGGCTCCAGCGATGGTATCAGC		 cctg|GCTC
Donor marginally increased12054wt: 0.9922 / mu: 0.9972 (marginal change - not scored)wt: GCTCCAGCTATGGTA
mu: GCTCCAGCGATGGTA		 TCCA|gcta
distance from splice site 11325
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
252355COMPBIASSer-rich.might get lost (downstream of altered splice site)
318318CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
438438CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
583583CONFLICTV -> A (in Ref. 1; BAC85285).might get lost (downstream of altered splice site)
586586CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
593613TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
767787TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
957995REPEATHEAT 1.might get lost (downstream of altered splice site)
10361074REPEATHEAT 2.might get lost (downstream of altered splice site)
10791117REPEATHEAT 3.might get lost (downstream of altered splice site)
10991099CONFLICTV -> D (in Ref. 2; CAH18687, 1; BAC87334 and 4; AAH29191).might get lost (downstream of altered splice site)
11251162REPEATHEAT 4.might get lost (downstream of altered splice site)
11551155CONFLICTR -> C (in Ref. 1; BAC87334).might get lost (downstream of altered splice site)
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 375 / 375
chromosome 1
strand 1
last intron/exon boundary 2659
theoretical NMD boundary in CDS 2234
length of CDS 2526
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)		 12057
chromosomal position
(for ins/del: last normal base / first normal base)		 55119515
original gDNA sequence snippet CCCTGATTCCTGGCTCCAGCTATGGTATCAGCCTGCACTCC
altered gDNA sequence snippet CCCTGATTCCTGGCTCCAGCGATGGTATCAGCCTGCACTCC
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MEILTQLSHT QPTLGMRERS ELVNVCVHSV FSLPSVQAMQ EKDEAKAETI QALYHQTLEA
LQTLLKALFI EDPTPAGLKS ILEALGPWMN SGKAHERARA VNTNVSVLNH MLLTLPFFMP
LGFPALGLLL GRLILHIGDP DEEIGCEALD GIIILYTILE LQKRARDKEE TNKKELYESN
KHFLGPYNPV SPCQNILRVI EEFGDFLGPQ QIKDLLLAAL EGLKGSSEAP GKDSREMMQL
ASEVMLSSVL EWYRHRALEV IPEIMQGIYM QLSHIQEPRA RQVALLPVSL LASSFMTEVV
VALLMCPLPL NSNGAEMWRQ LILCKPSCDV RDLLDLLLGS LKEKPVTKEG RASIVPLAAA
SGLCELLSVN SCMGRVRRIY PQLLLALLIQ VHYHIGLNLP GCVAPPKDTK KGAQPSPFVP
VRWVVKVVKT LLLRMGCSYE TTFLEDQGGW ELMEQVESHH RGVALLARAM VQYSCQELCR
ILYLLIPLLE RGDEKHRITA TAFFVELLQM EQVRRIPEEY SLGRMAEGLS HHDPIMKVLS
IRGLVILARR SEKTAKVKAL LPSMVKGLKN MDGMLVVEAV HNLKAVFKGR DQKLMDSAVY
VEMLQILLPH FSDAREVVRS SCINLYGKVV QKLRAPRTQA MEEQLVSTLV PLLLTMQEGN
SKVSQKCVKT LLRCSYFMAW ELPKRAYSRK PWDNQQQTVA KICKCLVNTH RDSAFIFLSQ
SLEYAKNSRA SLRKCSVMFI GSLVPCMESI MTEDRLNEVK AALDNLRHDP EASVCIYAAQ
VQDHILASCW QNSWLPHGNS WVCYSATTHR WSPSCENLPT SHQRRSWIMQ ALGSWKMSLK
K*
mutated AA sequence N/A
speed 0.22 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

Problems