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 5 transcript(s)...
Querying Taster for transcript #1: ENST00000268151
Querying Taster for transcript #2: ENST00000268150
Querying Taster for transcript #3: ENST00000566497
Querying Taster for transcript #4: ENST00000542878
Querying Taster for transcript #5: ENST00000539437
MT speed 0 s - this script 5.248697 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
MFGE8polymorphism_automatic0.000100605963265998simple_aaeaffectedL68Msingle base exchangers1878326show file
MFGE8polymorphism_automatic0.000167054995215965simple_aaeaffectedL76Msingle base exchangers1878326show file
MFGE8polymorphism_automatic0.000167054995215965simple_aaeaffectedL76Msingle base exchangers1878326show file
MFGE8polymorphism_automatic0.000167054995215965simple_aaeaffectedL76Msingle base exchangers1878326show file
MFGE8polymorphism_automatic0.00271049947006496simple_aaeaffectedL32Msingle base exchangers1878326show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999899394036734 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM094608)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr15:89450587G>TN/A show variant in all transcripts   IGV
HGNC symbol MFGE8
Ensembl transcript ID ENST00000539437
Genbank transcript ID N/A
UniProt peptide Q08431
alteration type single base exchange
alteration region CDS
DNA changes c.202C>A
cDNA.339C>A
g.6056C>A
AA changes L68M Score: 15 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 68
frameshift no
known variant Reference ID: rs1878326
databasehomozygous (T/T)heterozygousallele carriers
1000G105610852141
ExAC23799-148318968

known disease mutation at this position, please check HGMD for details (HGMD ID CM094608)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K91ac, Histone, Histone 4 Lysine 91 Acetylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.771
0.9871
(flanking)1.4891
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased6058wt: 0.4449 / mu: 0.4452 (marginal change - not scored)wt: GGCCTGGAGAATGGG
mu: GGCATGGAGAATGGG		 CCTG|gaga
Donor increased6057wt: 0.30 / mu: 0.44wt: GGGCCTGGAGAATGG
mu: GGGCATGGAGAATGG		 GCCT|ggag
Donor gained60520.87mu: CCACTGGGCATGGAG ACTG|ggca
distance from splice site 21
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      68HCETKCVEPLGLENGNIANSQIAA
mutated  all conserved    68KCVEPLGMENGNIANSQIA
Ptroglodytes  all conserved  ENSPTRG00000007426  76HCETKCVEPLGMENGNIANS
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000030605  135NTAVPTPAPTPDLSNNLASRCSTQLGMEGGAIADSQIS
Ggallus  all conserved  ENSGALG00000006702  134MDGDYACKCPSPFFGKTCHARCAIPLGMEGGAISDAQLS
Trubripes  all conserved  ENSTRUG00000016888  169QCQQRCTSLLGMEGGAI
Drerio  all conserved  ENSDARG00000045803  136HCNLRCISLLGMEGGGIAESQIS
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000017772  137LGDDFSCKCASPYIGKVCNIRCANALGMEGRAISDAQIT
protein features
start (aa)end (aa)featuredetails 
2467DOMAINEGF-like.might get lost (downstream of altered splice site)
7070DISULFIDBy similarity.might get lost (downstream of altered splice site)
70225DOMAINF5/8 type C 1.might get lost (downstream of altered splice site)
212212DISULFIDBy similarity.might get lost (downstream of altered splice site)
216216DISULFIDBy similarity.might get lost (downstream of altered splice site)
225225DISULFIDBy similarity.might get lost (downstream of altered splice site)
228228CARBOHYDN-linked (GlcNAc...); atypical.might get lost (downstream of altered splice site)
230230DISULFIDBy similarity.might get lost (downstream of altered splice site)
230387DOMAINF5/8 type C 2.might get lost (downstream of altered splice site)
238238CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
268268CONFLICTR -> W (in Ref. 5; CAD97938).might get lost (downstream of altered splice site)
325325CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
329329CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
350350CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
352352CONFLICTS -> T (in Ref. 5; CAD97938).might get lost (downstream of altered splice site)
387387DISULFIDBy similarity.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1140 / 1140
position (AA) of stopcodon in wt / mu AA sequence 380 / 380
position of stopcodon in wt / mu cDNA 1277 / 1277
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 138 / 138
chromosome 15
strand -1
last intron/exon boundary 1140
theoretical NMD boundary in CDS 952
length of CDS 1140
coding sequence (CDS) position 202
cDNA position
(for ins/del: last normal base / first normal base)		 339
gDNA position
(for ins/del: last normal base / first normal base)		 6056
chromosomal position
(for ins/del: last normal base / first normal base)		 89450587
original gDNA sequence snippet AATGTGTCGAGCCACTGGGCCTGGAGAATGGGAACATTGCC
altered gDNA sequence snippet AATGTGTCGAGCCACTGGGCATGGAGAATGGGAACATTGCC
original cDNA sequence snippet AATGTGTCGAGCCACTGGGCCTGGAGAATGGGAACATTGCC
altered cDNA sequence snippet AATGTGTCGAGCCACTGGGCATGGAGAATGGGAACATTGCC
wildtype AA sequence MWPFPEGGNT IPILHTDICS KNPCHNGGLC EEISQEVRGD VFPSYTCTCL KGYAGNHCET
KCVEPLGLEN GNIANSQIAA SSVRVTFLGL QHWVPELARL NRAGMVNAWT PSSNDDNPWI
QVNLLRRMWV TGVVTQGASR LASHEYLKAF KVAYSLNGHE FDFIHDVNKK HKEFVGNWNK
NAVHVNLFET PVEAQYVRLY PTSCHTACTL RFELLGCELN GCANPLGLKN NSIPDKQITA
SSSYKTWGLH LFSWNPSYAR LDKQGNFNAW VAGSYGNDQW LQVDLGSSKE VTGIITQGAR
NFGSVQFVAS YKVAYSNDSA NWTEYQDPRT GSSKIFPGNW DNHSHKKNLF ETPILARYVR
ILPVAWHNRI ALRLELLGC*
mutated AA sequence MWPFPEGGNT IPILHTDICS KNPCHNGGLC EEISQEVRGD VFPSYTCTCL KGYAGNHCET
KCVEPLGMEN GNIANSQIAA SSVRVTFLGL QHWVPELARL NRAGMVNAWT PSSNDDNPWI
QVNLLRRMWV TGVVTQGASR LASHEYLKAF KVAYSLNGHE FDFIHDVNKK HKEFVGNWNK
NAVHVNLFET PVEAQYVRLY PTSCHTACTL RFELLGCELN GCANPLGLKN NSIPDKQITA
SSSYKTWGLH LFSWNPSYAR LDKQGNFNAW VAGSYGNDQW LQVDLGSSKE VTGIITQGAR
NFGSVQFVAS YKVAYSNDSA NWTEYQDPRT GSSKIFPGNW DNHSHKKNLF ETPILARYVR
ILPVAWHNRI ALRLELLGC*
speed 0.67 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999832945004784 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM094608)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr15:89450587G>TN/A show variant in all transcripts   IGV
HGNC symbol MFGE8
Ensembl transcript ID ENST00000268151
Genbank transcript ID NM_001114614
UniProt peptide Q08431
alteration type single base exchange
alteration region CDS
DNA changes c.226C>A
cDNA.288C>A
g.6056C>A
AA changes L76M Score: 15 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 76
frameshift no
known variant Reference ID: rs1878326
databasehomozygous (T/T)heterozygousallele carriers
1000G105610852141
ExAC23799-148318968

known disease mutation at this position, please check HGMD for details (HGMD ID CM094608)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K91ac, Histone, Histone 4 Lysine 91 Acetylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.771
0.9871
(flanking)1.4891
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased6058wt: 0.4449 / mu: 0.4452 (marginal change - not scored)wt: GGCCTGGAGAATGGG
mu: GGCATGGAGAATGGG		 CCTG|gaga
Donor increased6057wt: 0.30 / mu: 0.44wt: GGGCCTGGAGAATGG
mu: GGGCATGGAGAATGG		 GCCT|ggag
Donor gained60520.87mu: CCACTGGGCATGGAG ACTG|ggca
distance from splice site 21
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      76HCETKCVEPLGLENGNIANSQIAA
mutated  all conserved    76HCETKCVEPLGMENGNIANSQIA
Ptroglodytes  all conserved  ENSPTRG00000007426  76HCETKCVEPLGMENGNIANSQIA
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000030605  132AVPNTAVPTPAPTPDLSNNLASRCSTQLGMEGGAIADSQIS
Ggallus  all conserved  ENSGALG00000006702  134MDGDYACKCPSPFFGKTCHARCAIPLGMEGGAISDAQLS
Trubripes  all conserved  ENSTRUG00000016888  169QCQQRCTSLLGMEGGAIVESQI
Drerio  all conserved  ENSDARG00000045803  147HCNLRCISLLGMEGGGIAESQIS
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000017772  137LGDDFSCKCASPYIGKVCNIRCANALGMEGRAISDAQIT
protein features
start (aa)end (aa)featuredetails 
70225DOMAINF5/8 type C 1.lost
212212DISULFIDBy similarity.might get lost (downstream of altered splice site)
216216DISULFIDBy similarity.might get lost (downstream of altered splice site)
225225DISULFIDBy similarity.might get lost (downstream of altered splice site)
228228CARBOHYDN-linked (GlcNAc...); atypical.might get lost (downstream of altered splice site)
230230DISULFIDBy similarity.might get lost (downstream of altered splice site)
230387DOMAINF5/8 type C 2.might get lost (downstream of altered splice site)
238238CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
268268CONFLICTR -> W (in Ref. 5; CAD97938).might get lost (downstream of altered splice site)
325325CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
329329CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
350350CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
352352CONFLICTS -> T (in Ref. 5; CAD97938).might get lost (downstream of altered splice site)
387387DISULFIDBy similarity.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1008 / 1008
position (AA) of stopcodon in wt / mu AA sequence 336 / 336
position of stopcodon in wt / mu cDNA 1070 / 1070
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 63 / 63
chromosome 15
strand -1
last intron/exon boundary 933
theoretical NMD boundary in CDS 820
length of CDS 1008
coding sequence (CDS) position 226
cDNA position
(for ins/del: last normal base / first normal base)		 288
gDNA position
(for ins/del: last normal base / first normal base)		 6056
chromosomal position
(for ins/del: last normal base / first normal base)		 89450587
original gDNA sequence snippet AATGTGTCGAGCCACTGGGCCTGGAGAATGGGAACATTGCC
altered gDNA sequence snippet AATGTGTCGAGCCACTGGGCATGGAGAATGGGAACATTGCC
original cDNA sequence snippet AATGTGTCGAGCCACTGGGCCTGGAGAATGGGAACATTGCC
altered cDNA sequence snippet AATGTGTCGAGCCACTGGGCATGGAGAATGGGAACATTGCC
wildtype AA sequence MPRPRLLAAL CGALLCAPSL LVALDICSKN PCHNGGLCEE ISQEVRGDVF PSYTCTCLKG
YAGNHCETKC VEPLGLENGN IANSQIAASS VRVTFLGLQH WVPELARLNR AGMVNAWTPS
SNDDNPWIQV NLLRRMWVTG VVTQGASRLA SHEYLKAFKV AYSLNGHEFD FIHDVNKKHK
EFVGNWNKNA VHVNLFETPV EAQYVRLYPT SCHTACTLRF ELLGCELNGC ANPLGLKNNS
IPDKQITASS SYKTWGLHLF SWNPSYARLD KQGNFNAWVA GSYGNDQWLQ IFPGNWDNHS
HKKNLFETPI LARYVRILPV AWHNRIALRL ELLGC*
mutated AA sequence MPRPRLLAAL CGALLCAPSL LVALDICSKN PCHNGGLCEE ISQEVRGDVF PSYTCTCLKG
YAGNHCETKC VEPLGMENGN IANSQIAASS VRVTFLGLQH WVPELARLNR AGMVNAWTPS
SNDDNPWIQV NLLRRMWVTG VVTQGASRLA SHEYLKAFKV AYSLNGHEFD FIHDVNKKHK
EFVGNWNKNA VHVNLFETPV EAQYVRLYPT SCHTACTLRF ELLGCELNGC ANPLGLKNNS
IPDKQITASS SYKTWGLHLF SWNPSYARLD KQGNFNAWVA GSYGNDQWLQ IFPGNWDNHS
HKKNLFETPI LARYVRILPV AWHNRIALRL ELLGC*
speed 1.21 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: 0.999832945004784 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM094608)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr15:89450587G>TN/A show variant in all transcripts   IGV
HGNC symbol MFGE8
Ensembl transcript ID ENST00000268150
Genbank transcript ID NM_005928
UniProt peptide Q08431
alteration type single base exchange
alteration region CDS
DNA changes c.226C>A
cDNA.318C>A
g.6056C>A
AA changes L76M Score: 15 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 76
frameshift no
known variant Reference ID: rs1878326
databasehomozygous (T/T)heterozygousallele carriers
1000G105610852141
ExAC23799-148318968

known disease mutation at this position, please check HGMD for details (HGMD ID CM094608)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K91ac, Histone, Histone 4 Lysine 91 Acetylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.771
0.9871
(flanking)1.4891
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased6058wt: 0.4449 / mu: 0.4452 (marginal change - not scored)wt: GGCCTGGAGAATGGG
mu: GGCATGGAGAATGGG		 CCTG|gaga
Donor increased6057wt: 0.30 / mu: 0.44wt: GGGCCTGGAGAATGG
mu: GGGCATGGAGAATGG		 GCCT|ggag
Donor gained60520.87mu: CCACTGGGCATGGAG ACTG|ggca
distance from splice site 21
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      76HCETKCVEPLGLENGNIANSQIAA
mutated  all conserved    76HCETKCVEPLGMENGNIANSQIA
Ptroglodytes  all conserved  ENSPTRG00000007426  76HCETKCVEPLGMENGNIANSQIA
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000030605  132AVPNTAVPTPAPTPDLSNNLASRCSTQLGMEGGAIADSQIS
Ggallus  all conserved  ENSGALG00000006702  134MDGDYACKCPSPFFGKTCHARCAIPLGMEGGAISDAQLS
Trubripes  all conserved  ENSTRUG00000016888  169QCQQRCTSLLGMEGGAIVESQI
Drerio  all conserved  ENSDARG00000045803  147HCNLRCISLLGMEGGGIAESQIS
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000017772  137LGDDFSCKCASPYIGKVCNIRCANALGMEGRAISDAQIT
protein features
start (aa)end (aa)featuredetails 
70225DOMAINF5/8 type C 1.lost
212212DISULFIDBy similarity.might get lost (downstream of altered splice site)
216216DISULFIDBy similarity.might get lost (downstream of altered splice site)
225225DISULFIDBy similarity.might get lost (downstream of altered splice site)
228228CARBOHYDN-linked (GlcNAc...); atypical.might get lost (downstream of altered splice site)
230230DISULFIDBy similarity.might get lost (downstream of altered splice site)
230387DOMAINF5/8 type C 2.might get lost (downstream of altered splice site)
238238CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
268268CONFLICTR -> W (in Ref. 5; CAD97938).might get lost (downstream of altered splice site)
325325CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
329329CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
350350CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
352352CONFLICTS -> T (in Ref. 5; CAD97938).might get lost (downstream of altered splice site)
387387DISULFIDBy similarity.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1164 / 1164
position (AA) of stopcodon in wt / mu AA sequence 388 / 388
position of stopcodon in wt / mu cDNA 1256 / 1256
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 93 / 93
chromosome 15
strand -1
last intron/exon boundary 1119
theoretical NMD boundary in CDS 976
length of CDS 1164
coding sequence (CDS) position 226
cDNA position
(for ins/del: last normal base / first normal base)		 318
gDNA position
(for ins/del: last normal base / first normal base)		 6056
chromosomal position
(for ins/del: last normal base / first normal base)		 89450587
original gDNA sequence snippet AATGTGTCGAGCCACTGGGCCTGGAGAATGGGAACATTGCC
altered gDNA sequence snippet AATGTGTCGAGCCACTGGGCATGGAGAATGGGAACATTGCC
original cDNA sequence snippet AATGTGTCGAGCCACTGGGCCTGGAGAATGGGAACATTGCC
altered cDNA sequence snippet AATGTGTCGAGCCACTGGGCATGGAGAATGGGAACATTGCC
wildtype AA sequence MPRPRLLAAL CGALLCAPSL LVALDICSKN PCHNGGLCEE ISQEVRGDVF PSYTCTCLKG
YAGNHCETKC VEPLGLENGN IANSQIAASS VRVTFLGLQH WVPELARLNR AGMVNAWTPS
SNDDNPWIQV NLLRRMWVTG VVTQGASRLA SHEYLKAFKV AYSLNGHEFD FIHDVNKKHK
EFVGNWNKNA VHVNLFETPV EAQYVRLYPT SCHTACTLRF ELLGCELNGC ANPLGLKNNS
IPDKQITASS SYKTWGLHLF SWNPSYARLD KQGNFNAWVA GSYGNDQWLQ VDLGSSKEVT
GIITQGARNF GSVQFVASYK VAYSNDSANW TEYQDPRTGS SKIFPGNWDN HSHKKNLFET
PILARYVRIL PVAWHNRIAL RLELLGC*
mutated AA sequence MPRPRLLAAL CGALLCAPSL LVALDICSKN PCHNGGLCEE ISQEVRGDVF PSYTCTCLKG
YAGNHCETKC VEPLGMENGN IANSQIAASS VRVTFLGLQH WVPELARLNR AGMVNAWTPS
SNDDNPWIQV NLLRRMWVTG VVTQGASRLA SHEYLKAFKV AYSLNGHEFD FIHDVNKKHK
EFVGNWNKNA VHVNLFETPV EAQYVRLYPT SCHTACTLRF ELLGCELNGC ANPLGLKNNS
IPDKQITASS SYKTWGLHLF SWNPSYARLD KQGNFNAWVA GSYGNDQWLQ VDLGSSKEVT
GIITQGARNF GSVQFVASYK VAYSNDSANW TEYQDPRTGS SKIFPGNWDN HSHKKNLFET
PILARYVRIL PVAWHNRIAL RLELLGC*
speed 0.67 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999832945004784 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM094608)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr15:89450587G>TN/A show variant in all transcripts   IGV
HGNC symbol MFGE8
Ensembl transcript ID ENST00000566497
Genbank transcript ID N/A
UniProt peptide Q08431
alteration type single base exchange
alteration region CDS
DNA changes c.226C>A
cDNA.288C>A
g.6056C>A
AA changes L76M Score: 15 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 76
frameshift no
known variant Reference ID: rs1878326
databasehomozygous (T/T)heterozygousallele carriers
1000G105610852141
ExAC23799-148318968

known disease mutation at this position, please check HGMD for details (HGMD ID CM094608)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K91ac, Histone, Histone 4 Lysine 91 Acetylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.771
0.9871
(flanking)1.4891
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased6058wt: 0.4449 / mu: 0.4452 (marginal change - not scored)wt: GGCCTGGAGAATGGG
mu: GGCATGGAGAATGGG		 CCTG|gaga
Donor increased6057wt: 0.30 / mu: 0.44wt: GGGCCTGGAGAATGG
mu: GGGCATGGAGAATGG		 GCCT|ggag
Donor gained60520.87mu: CCACTGGGCATGGAG ACTG|ggca
distance from splice site 21
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      76HCETKCVEPLGLENGNIANSQIAA
mutated  all conserved    76HCETKCVEPLGMENGNIANSQIA
Ptroglodytes  all conserved  ENSPTRG00000007426  76HCETKCVEPLGMENGNIANSQIA
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000030605  132AVPNTAVPTPAPTPDLSNNLASRCSTQLGMEGGAIADSQIS
Ggallus  all conserved  ENSGALG00000006702  134MDGDYACKCPSPFFGKTCHARCAIPLGMEGGAISDAQLS
Trubripes  all conserved  ENSTRUG00000016888  169QCQQRCTSLLGMEGGAIVESQI
Drerio  all conserved  ENSDARG00000045803  147HCNLRCISLLGMEGGGIAESQIS
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000017772  137LGDDFSCKCASPYIGKVCNIRCANALGMEGRAISDAQIT
protein features
start (aa)end (aa)featuredetails 
70225DOMAINF5/8 type C 1.lost
212212DISULFIDBy similarity.might get lost (downstream of altered splice site)
216216DISULFIDBy similarity.might get lost (downstream of altered splice site)
225225DISULFIDBy similarity.might get lost (downstream of altered splice site)
228228CARBOHYDN-linked (GlcNAc...); atypical.might get lost (downstream of altered splice site)
230230DISULFIDBy similarity.might get lost (downstream of altered splice site)
230387DOMAINF5/8 type C 2.might get lost (downstream of altered splice site)
238238CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
268268CONFLICTR -> W (in Ref. 5; CAD97938).might get lost (downstream of altered splice site)
325325CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
329329CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
350350CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
352352CONFLICTS -> T (in Ref. 5; CAD97938).might get lost (downstream of altered splice site)
387387DISULFIDBy similarity.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1164 / 1164
position (AA) of stopcodon in wt / mu AA sequence 388 / 388
position of stopcodon in wt / mu cDNA 1226 / 1226
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 63 / 63
chromosome 15
strand -1
last intron/exon boundary 1247
theoretical NMD boundary in CDS 1134
length of CDS 1164
coding sequence (CDS) position 226
cDNA position
(for ins/del: last normal base / first normal base)		 288
gDNA position
(for ins/del: last normal base / first normal base)		 6056
chromosomal position
(for ins/del: last normal base / first normal base)		 89450587
original gDNA sequence snippet AATGTGTCGAGCCACTGGGCCTGGAGAATGGGAACATTGCC
altered gDNA sequence snippet AATGTGTCGAGCCACTGGGCATGGAGAATGGGAACATTGCC
original cDNA sequence snippet AATGTGTCGAGCCACTGGGCCTGGAGAATGGGAACATTGCC
altered cDNA sequence snippet AATGTGTCGAGCCACTGGGCATGGAGAATGGGAACATTGCC
wildtype AA sequence MPRPRLLAAL CGALLCAPSL LVALDICSKN PCHNGGLCEE ISQEVRGDVF PSYTCTCLKG
YAGNHCETKC VEPLGLENGN IANSQIAASS VRVTFLGLQH WVPELARLNR AGMVNAWTPS
SNDDNPWIQV NLLRRMWVTG VVTQGASRLA SHEYLKAFKV AYSLNGHEFD FIHDVNKKHK
EFVGNWNKNA VHVNLFETPV EAQYVRLYPT SCHTACTLRF ELLGCELNGC ANPLGLKNNS
IPDKQITASS SYKTWGLHLF SWNPSYARLD KQGNFNAWVA GSYGNDQWLQ VDLGSSKEVT
GIITQGARNF GSVQFVASYK VAYSNDSANW TEYQDPRTGS SKIFPGNWDN HSHKKNLFET
PILARYVRIL PVAWHNRIAL RLELLGC*
mutated AA sequence MPRPRLLAAL CGALLCAPSL LVALDICSKN PCHNGGLCEE ISQEVRGDVF PSYTCTCLKG
YAGNHCETKC VEPLGMENGN IANSQIAASS VRVTFLGLQH WVPELARLNR AGMVNAWTPS
SNDDNPWIQV NLLRRMWVTG VVTQGASRLA SHEYLKAFKV AYSLNGHEFD FIHDVNKKHK
EFVGNWNKNA VHVNLFETPV EAQYVRLYPT SCHTACTLRF ELLGCELNGC ANPLGLKNNS
IPDKQITASS SYKTWGLHLF SWNPSYARLD KQGNFNAWVA GSYGNDQWLQ VDLGSSKEVT
GIITQGARNF GSVQFVASYK VAYSNDSANW TEYQDPRTGS SKIFPGNWDN HSHKKNLFET
PILARYVRIL PVAWHNRIAL RLELLGC*
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
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Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.997289500529935 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM094608)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr15:89450587G>TN/A show variant in all transcripts   IGV
HGNC symbol MFGE8
Ensembl transcript ID ENST00000542878
Genbank transcript ID N/A
UniProt peptide Q08431
alteration type single base exchange
alteration region CDS
DNA changes c.94C>A
cDNA.154C>A
g.6056C>A
AA changes L32M Score: 15 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 32
frameshift no
known variant Reference ID: rs1878326
databasehomozygous (T/T)heterozygousallele carriers
1000G105610852141
ExAC23799-148318968

known disease mutation at this position, please check HGMD for details (HGMD ID CM094608)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K91ac, Histone, Histone 4 Lysine 91 Acetylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.771
0.9871
(flanking)1.4891
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased6058wt: 0.4449 / mu: 0.4452 (marginal change - not scored)wt: GGCCTGGAGAATGGG
mu: GGCATGGAGAATGGG		 CCTG|gaga
Donor increased6057wt: 0.30 / mu: 0.44wt: GGGCCTGGAGAATGG
mu: GGGCATGGAGAATGG		 GCCT|ggag
Donor gained60520.87mu: CCACTGGGCATGGAG ACTG|ggca
distance from splice site 21
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      32LVALECVEPLGLENGNIANSQIAA
mutated  all conserved    32LVALECVEPLGMENGNIANSQIA
Ptroglodytes  all conserved  ENSPTRG00000007426  67YAGNHCETKCVEPLGMENGNIANSQIA
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000030605  154LASRCSTQLGMEGGAIADSQIS
Ggallus  all conserved  ENSGALG00000006702  154CAIPLGMEGGAISDAQLS
Trubripes  all conserved  ENSTRUG00000016888  161CTSLLGMEGGAIVESQIS
Drerio  all conserved  ENSDARG00000045803  159LRCISLLGMEGGGIAESQIS
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000017772  157IRCANALGMEGRAISDAQIT
protein features
start (aa)end (aa)featuredetails 
2467DOMAINEGF-like.lost
3232DISULFIDBy similarity.lost
3838DISULFIDBy similarity.might get lost (downstream of altered splice site)
4648MOTIFCell attachment site.might get lost (downstream of altered splice site)
5555DISULFIDBy similarity.might get lost (downstream of altered splice site)
5757DISULFIDBy similarity.might get lost (downstream of altered splice site)
6666DISULFIDBy similarity.might get lost (downstream of altered splice site)
7070DISULFIDBy similarity.might get lost (downstream of altered splice site)
70225DOMAINF5/8 type C 1.might get lost (downstream of altered splice site)
212212DISULFIDBy similarity.might get lost (downstream of altered splice site)
216216DISULFIDBy similarity.might get lost (downstream of altered splice site)
225225DISULFIDBy similarity.might get lost (downstream of altered splice site)
228228CARBOHYDN-linked (GlcNAc...); atypical.might get lost (downstream of altered splice site)
230230DISULFIDBy similarity.might get lost (downstream of altered splice site)
230387DOMAINF5/8 type C 2.might get lost (downstream of altered splice site)
238238CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
268268CONFLICTR -> W (in Ref. 5; CAD97938).might get lost (downstream of altered splice site)
325325CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
329329CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
350350CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
352352CONFLICTS -> T (in Ref. 5; CAD97938).might get lost (downstream of altered splice site)
387387DISULFIDBy similarity.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1032 / 1032
position (AA) of stopcodon in wt / mu AA sequence 344 / 344
position of stopcodon in wt / mu cDNA 1092 / 1092
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 61 / 61
chromosome 15
strand -1
last intron/exon boundary 955
theoretical NMD boundary in CDS 844
length of CDS 1032
coding sequence (CDS) position 94
cDNA position
(for ins/del: last normal base / first normal base)		 154
gDNA position
(for ins/del: last normal base / first normal base)		 6056
chromosomal position
(for ins/del: last normal base / first normal base)		 89450587
original gDNA sequence snippet AATGTGTCGAGCCACTGGGCCTGGAGAATGGGAACATTGCC
altered gDNA sequence snippet AATGTGTCGAGCCACTGGGCATGGAGAATGGGAACATTGCC
original cDNA sequence snippet AATGTGTCGAGCCACTGGGCCTGGAGAATGGGAACATTGCC
altered cDNA sequence snippet AATGTGTCGAGCCACTGGGCATGGAGAATGGGAACATTGCC
wildtype AA sequence MPRPRLLAAL CGALLCAPSL LVALECVEPL GLENGNIANS QIAASSVRVT FLGLQHWVPE
LARLNRAGMV NAWTPSSNDD NPWIQVNLLR RMWVTGVVTQ GASRLASHEY LKAFKVAYSL
NGHEFDFIHD VNKKHKEFVG NWNKNAVHVN LFETPVEAQY VRLYPTSCHT ACTLRFELLG
CELNGCANPL GLKNNSIPDK QITASSSYKT WGLHLFSWNP SYARLDKQGN FNAWVAGSYG
NDQWLQVDLG SSKEVTGIIT QGARNFGSVQ FVASYKVAYS NDSANWTEYQ DPRTGSSKIF
PGNWDNHSHK KNLFETPILA RYVRILPVAW HNRIALRLEL LGC*
mutated AA sequence MPRPRLLAAL CGALLCAPSL LVALECVEPL GMENGNIANS QIAASSVRVT FLGLQHWVPE
LARLNRAGMV NAWTPSSNDD NPWIQVNLLR RMWVTGVVTQ GASRLASHEY LKAFKVAYSL
NGHEFDFIHD VNKKHKEFVG NWNKNAVHVN LFETPVEAQY VRLYPTSCHT ACTLRFELLG
CELNGCANPL GLKNNSIPDK QITASSSYKT WGLHLFSWNP SYARLDKQGN FNAWVAGSYG
NDQWLQVDLG SSKEVTGIIT QGARNFGSVQ FVASYKVAYS NDSANWTEYQ DPRTGSSKIF
PGNWDNHSHK KNLFETPILA RYVRILPVAW HNRIALRLEL LGC*
speed 0.70 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