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 14 transcript(s)...
Querying Taster for transcript #1: ENST00000376917
Querying Taster for transcript #2: ENST00000376888
Querying Taster for transcript #3: ENST00000376894
Querying Taster for transcript #4: ENST00000483013
Querying Taster for transcript #5: ENST00000490427
Querying Taster for transcript #6: ENST00000416766
Querying Taster for transcript #7: ENST00000376891
Querying Taster for transcript #8: ENST00000376898
Querying Taster for transcript #9: ENST00000431798
Querying Taster for transcript #10: ENST00000396701
Querying Taster for transcript #11: ENST00000494692
Querying Taster for transcript #12: ENST00000396704
Querying Taster for transcript #13: ENST00000376902
Querying Taster for transcript #14: ENST00000533330
MT speed 0 s - this script 7.718129 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
MOGpolymorphism_automatic4.47750603260744e-09simple_aaeaffectedV55Lsingle base exchangers2857766show file
MOGpolymorphism_automatic4.47750603260744e-09simple_aaeaffectedV55Lsingle base exchangers2857766show file
MOGpolymorphism_automatic4.47750603260744e-09simple_aaeaffectedV55Lsingle base exchangers2857766show file
MOGpolymorphism_automatic4.74744199507882e-09simple_aaeaffectedV171Lsingle base exchangers2857766show file
MOGpolymorphism_automatic4.74744199507882e-09simple_aaeaffectedV171Lsingle base exchangers2857766show file
MOGpolymorphism_automatic4.74744199507882e-09simple_aaeaffectedV171Lsingle base exchangers2857766show file
MOGpolymorphism_automatic4.74744199507882e-09simple_aaeaffectedV171Lsingle base exchangers2857766show file
MOGpolymorphism_automatic4.74744199507882e-09simple_aaeaffectedV171Lsingle base exchangers2857766show file
MOGpolymorphism_automatic4.74744199507882e-09simple_aaeaffectedV171Lsingle base exchangers2857766show file
MOGpolymorphism_automatic4.74744199507882e-09simple_aaeaffectedV171Lsingle base exchangers2857766show file
MOGpolymorphism_automatic4.74744199507882e-09simple_aaeaffectedV171Lsingle base exchangers2857766show file
MOGpolymorphism_automatic6.4133634030128e-06without_aaeaffectedsingle base exchangers2857766show file
MOGpolymorphism_automatic6.4133634030128e-06without_aaeaffectedsingle base exchangers2857766show file
MOGpolymorphism_automatic6.4133634030128e-06without_aaeaffectedsingle base exchangers2857766show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999995522494 (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) chr6:29634003G>CN/A show variant in all transcripts   IGV
HGNC symbol MOG
Ensembl transcript ID ENST00000376888
Genbank transcript ID NM_206814
UniProt peptide Q16653
alteration type single base exchange
alteration region CDS
DNA changes c.163G>C
cDNA.370G>C
g.9246G>C
AA changes V55L Score: 32 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 55
frameshift no
known variant Reference ID: rs2857766
databasehomozygous (C/C)heterozygousallele carriers
1000G96712808
ExAC32441932122565
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-2.5760
-0.0140.013
(flanking)1.4110.179
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased9237wt: 0.8208 / mu: 0.8540 (marginal change - not scored)wt: TGCTGCCTGTGCTCCTCCTGCAGATCACTGTTGGCCTCATC
mu: TGCTGCCTGTGCTCCTCCTGCAGATCACTCTTGGCCTCATC		 ctgc|AGAT
Donor increased9238wt: 0.25 / mu: 0.49wt: CCTGCAGATCACTGT
mu: CCTGCAGATCACTCT		 TGCA|gatc
distance from splice site 40
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      55AVLPVLLLQITVGLIFLCLQYRLR
mutated  all conserved    55AVLPVLLLQITLGLIFL
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000002967  171AVLPVLLLQITVGLVFLCLQYRL
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000076439  171ALVPTILLQVSVGLVFLFLQHRL
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
30154TOPO_DOMExtracellular (Potential).lost
32145DOMAINIg-like V-type.lost
5353DISULFIDPotential.might get lost (downstream of altered splice site)
6060CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
6669STRANDmight get lost (downstream of altered splice site)
7173TURNmight get lost (downstream of altered splice site)
7480STRANDmight get lost (downstream of altered splice site)
8285STRANDmight get lost (downstream of altered splice site)
8792STRANDmight get lost (downstream of altered splice site)
96100STRANDmight get lost (downstream of altered splice site)
104109STRANDmight get lost (downstream of altered splice site)
112114STRANDmight get lost (downstream of altered splice site)
125128STRANDmight get lost (downstream of altered splice site)
127127DISULFIDPotential.might get lost (downstream of altered splice site)
131133STRANDmight get lost (downstream of altered splice site)
138140STRANDmight get lost (downstream of altered splice site)
143145STRANDmight get lost (downstream of altered splice site)
155175TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
176210TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
211231TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
232247TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 396 / 396
position (AA) of stopcodon in wt / mu AA sequence 132 / 132
position of stopcodon in wt / mu cDNA 603 / 603
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 208 / 208
chromosome 6
strand 1
last intron/exon boundary 590
theoretical NMD boundary in CDS 332
length of CDS 396
coding sequence (CDS) position 163
cDNA position
(for ins/del: last normal base / first normal base)		 370
gDNA position
(for ins/del: last normal base / first normal base)		 9246
chromosomal position
(for ins/del: last normal base / first normal base)		 29634003
original gDNA sequence snippet TGCTCCTCCTGCAGATCACTGTTGGCCTCATCTTCCTCTGC
altered gDNA sequence snippet TGCTCCTCCTGCAGATCACTCTTGGCCTCATCTTCCTCTGC
original cDNA sequence snippet TGCTCCTCCTGCAGATCACTGTTGGCCTCATCTTCCTCTGC
altered cDNA sequence snippet TGCTCCTCCTGCAGATCACTCTTGGCCTCATCTTCCTCTGC
wildtype AA sequence MASLSRPSLP SCLCSFLLLL LLQVSSSYAD PFYWVSPGVL VLLAVLPVLL LQITVGLIFL
CLQYRLRGKL RAEIENLHRT FDPHFLRVPC WKITLFVIVP VLGPLVALII CYNWLHRRLA
GQFLEELRNP F*
mutated AA sequence MASLSRPSLP SCLCSFLLLL LLQVSSSYAD PFYWVSPGVL VLLAVLPVLL LQITLGLIFL
CLQYRLRGKL RAEIENLHRT FDPHFLRVPC WKITLFVIVP VLGPLVALII CYNWLHRRLA
GQFLEELRNP F*
speed 0.79 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: 0.999999995522494 (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) chr6:29634003G>CN/A show variant in all transcripts   IGV
HGNC symbol MOG
Ensembl transcript ID ENST00000483013
Genbank transcript ID N/A
UniProt peptide Q16653
alteration type single base exchange
alteration region CDS
DNA changes c.163G>C
cDNA.163G>C
g.9246G>C
AA changes V55L Score: 32 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 55
frameshift no
known variant Reference ID: rs2857766
databasehomozygous (C/C)heterozygousallele carriers
1000G96712808
ExAC32441932122565
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-2.5760
-0.0140.013
(flanking)1.4110.179
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased9237wt: 0.8208 / mu: 0.8540 (marginal change - not scored)wt: TGCTGCCTGTGCTCCTCCTGCAGATCACTGTTGGCCTCATC
mu: TGCTGCCTGTGCTCCTCCTGCAGATCACTCTTGGCCTCATC		 ctgc|AGAT
Donor increased9238wt: 0.25 / mu: 0.49wt: CCTGCAGATCACTGT
mu: CCTGCAGATCACTCT		 TGCA|gatc
distance from splice site 40
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      55AVLPVLLLQITVGLIFLCLQYRLR
mutated  all conserved    55AVLPVLLLQITLGLIFL
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000002967  171AVLPVLLLQITVGLVFLCLQYRL
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000076439  171ALVPTILLQVSVGLVFLFLQHRL
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
30154TOPO_DOMExtracellular (Potential).lost
32145DOMAINIg-like V-type.lost
5353DISULFIDPotential.might get lost (downstream of altered splice site)
6060CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
6669STRANDmight get lost (downstream of altered splice site)
7173TURNmight get lost (downstream of altered splice site)
7480STRANDmight get lost (downstream of altered splice site)
8285STRANDmight get lost (downstream of altered splice site)
8792STRANDmight get lost (downstream of altered splice site)
96100STRANDmight get lost (downstream of altered splice site)
104109STRANDmight get lost (downstream of altered splice site)
112114STRANDmight get lost (downstream of altered splice site)
125128STRANDmight get lost (downstream of altered splice site)
127127DISULFIDPotential.might get lost (downstream of altered splice site)
131133STRANDmight get lost (downstream of altered splice site)
138140STRANDmight get lost (downstream of altered splice site)
143145STRANDmight get lost (downstream of altered splice site)
155175TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
176210TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
211231TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
232247TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 279 / 279
position (AA) of stopcodon in wt / mu AA sequence 93 / 93
position of stopcodon in wt / mu cDNA 279 / 279
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 1 / 1
chromosome 6
strand 1
last intron/exon boundary 266
theoretical NMD boundary in CDS 215
length of CDS 279
coding sequence (CDS) position 163
cDNA position
(for ins/del: last normal base / first normal base)		 163
gDNA position
(for ins/del: last normal base / first normal base)		 9246
chromosomal position
(for ins/del: last normal base / first normal base)		 29634003
original gDNA sequence snippet TGCTCCTCCTGCAGATCACTGTTGGCCTCATCTTCCTCTGC
altered gDNA sequence snippet TGCTCCTCCTGCAGATCACTCTTGGCCTCATCTTCCTCTGC
original cDNA sequence snippet TGCTCCTCCTGCAGATCACTGTTGGCCTCATCTTCCTCTGC
altered cDNA sequence snippet TGCTCCTCCTGCAGATCACTCTTGGCCTCATCTTCCTCTGC
wildtype AA sequence MASLSRPSLP SCLCSFLLLL LLQVSSSYAD PFYWVSPGVL VLLAVLPVLL LQITVGLIFL
CLQYRLRGKL RAEIENLHRT FGQFLEELRN PF*
mutated AA sequence MASLSRPSLP SCLCSFLLLL LLQVSSSYAD PFYWVSPGVL VLLAVLPVLL LQITLGLIFL
CLQYRLRGKL RAEIENLHRT FGQFLEELRN PF*
speed 0.80 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: 0.999999995522494 (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) chr6:29634003G>CN/A show variant in all transcripts   IGV
HGNC symbol MOG
Ensembl transcript ID ENST00000490427
Genbank transcript ID NM_001170418
UniProt peptide Q16653
alteration type single base exchange
alteration region CDS
DNA changes c.163G>C
cDNA.163G>C
g.9246G>C
AA changes V55L Score: 32 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 55
frameshift no
known variant Reference ID: rs2857766
databasehomozygous (C/C)heterozygousallele carriers
1000G96712808
ExAC32441932122565
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-2.5760
-0.0140.013
(flanking)1.4110.179
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased9237wt: 0.8208 / mu: 0.8540 (marginal change - not scored)wt: TGCTGCCTGTGCTCCTCCTGCAGATCACTGTTGGCCTCATC
mu: TGCTGCCTGTGCTCCTCCTGCAGATCACTCTTGGCCTCATC		 ctgc|AGAT
Donor increased9238wt: 0.25 / mu: 0.49wt: CCTGCAGATCACTGT
mu: CCTGCAGATCACTCT		 TGCA|gatc
distance from splice site 40
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      55AVLPVLLLQITVGLIFLCLQYRLR
mutated  all conserved    55AVLPVLLLQITLGLIFL
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000002967  171AVLPVLLLQITVGLVFLCLQYRL
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000076439  171ALVPTILLQVSVGLVFLFLQHRL
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
30154TOPO_DOMExtracellular (Potential).lost
32145DOMAINIg-like V-type.lost
5353DISULFIDPotential.might get lost (downstream of altered splice site)
6060CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
6669STRANDmight get lost (downstream of altered splice site)
7173TURNmight get lost (downstream of altered splice site)
7480STRANDmight get lost (downstream of altered splice site)
8285STRANDmight get lost (downstream of altered splice site)
8792STRANDmight get lost (downstream of altered splice site)
96100STRANDmight get lost (downstream of altered splice site)
104109STRANDmight get lost (downstream of altered splice site)
112114STRANDmight get lost (downstream of altered splice site)
125128STRANDmight get lost (downstream of altered splice site)
127127DISULFIDPotential.might get lost (downstream of altered splice site)
131133STRANDmight get lost (downstream of altered splice site)
138140STRANDmight get lost (downstream of altered splice site)
143145STRANDmight get lost (downstream of altered splice site)
155175TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
176210TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
211231TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
232247TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 327 / 327
position (AA) of stopcodon in wt / mu AA sequence 109 / 109
position of stopcodon in wt / mu cDNA 327 / 327
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 1 / 1
chromosome 6
strand 1
last intron/exon boundary 314
theoretical NMD boundary in CDS 263
length of CDS 327
coding sequence (CDS) position 163
cDNA position
(for ins/del: last normal base / first normal base)		 163
gDNA position
(for ins/del: last normal base / first normal base)		 9246
chromosomal position
(for ins/del: last normal base / first normal base)		 29634003
original gDNA sequence snippet TGCTCCTCCTGCAGATCACTGTTGGCCTCATCTTCCTCTGC
altered gDNA sequence snippet TGCTCCTCCTGCAGATCACTCTTGGCCTCATCTTCCTCTGC
original cDNA sequence snippet TGCTCCTCCTGCAGATCACTGTTGGCCTCATCTTCCTCTGC
altered cDNA sequence snippet TGCTCCTCCTGCAGATCACTCTTGGCCTCATCTTCCTCTGC
wildtype AA sequence MASLSRPSLP SCLCSFLLLL LLQVSSSYAD PFYWVSPGVL VLLAVLPVLL LQITVGLIFL
CLQYRLRGKL RAEIENLHRT FESFGVLGPQ VKEPKKTGQF LEELRNPF*
mutated AA sequence MASLSRPSLP SCLCSFLLLL LLQVSSSYAD PFYWVSPGVL VLLAVLPVLL LQITLGLIFL
CLQYRLRGKL RAEIENLHRT FESFGVLGPQ VKEPKKTGQF LEELRNPF*
speed 0.79 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: 0.999999995252558 (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) chr6:29634003G>CN/A show variant in all transcripts   IGV
HGNC symbol MOG
Ensembl transcript ID ENST00000376917
Genbank transcript ID NM_206809
UniProt peptide Q16653
alteration type single base exchange
alteration region CDS
DNA changes c.511G>C
cDNA.740G>C
g.9246G>C
AA changes V171L Score: 32 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 171
frameshift no
known variant Reference ID: rs2857766
databasehomozygous (C/C)heterozygousallele carriers
1000G96712808
ExAC32441932122565
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-2.5760
-0.0140.013
(flanking)1.4110.179
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased9237wt: 0.8208 / mu: 0.8540 (marginal change - not scored)wt: TGCTGCCTGTGCTCCTCCTGCAGATCACTGTTGGCCTCATC
mu: TGCTGCCTGTGCTCCTCCTGCAGATCACTCTTGGCCTCATC		 ctgc|AGAT
Donor increased9238wt: 0.25 / mu: 0.49wt: CCTGCAGATCACTGT
mu: CCTGCAGATCACTCT		 TGCA|gatc
distance from splice site 40
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      171AVLPVLLLQITVGLIFLCLQYRLR
mutated  all conserved    171AVLPVLLLQITLGLIFLCLQY
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000002967  171AVLPVLLLQITVGLVFLCLQY
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000076439  171ALVPTILLQVSVGLVFLFLQH
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
155175TRANSMEMHelical; (Potential).lost
176210TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
211231TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
232247TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 744 / 744
position (AA) of stopcodon in wt / mu AA sequence 248 / 248
position of stopcodon in wt / mu cDNA 973 / 973
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 230 / 230
chromosome 6
strand 1
last intron/exon boundary 960
theoretical NMD boundary in CDS 680
length of CDS 744
coding sequence (CDS) position 511
cDNA position
(for ins/del: last normal base / first normal base)		 740
gDNA position
(for ins/del: last normal base / first normal base)		 9246
chromosomal position
(for ins/del: last normal base / first normal base)		 29634003
original gDNA sequence snippet TGCTCCTCCTGCAGATCACTGTTGGCCTCATCTTCCTCTGC
altered gDNA sequence snippet TGCTCCTCCTGCAGATCACTCTTGGCCTCATCTTCCTCTGC
original cDNA sequence snippet TGCTCCTCCTGCAGATCACTGTTGGCCTCATCTTCCTCTGC
altered cDNA sequence snippet TGCTCCTCCTGCAGATCACTCTTGGCCTCATCTTCCTCTGC
wildtype AA sequence MASLSRPSLP SCLCSFLLLL LLQVSSSYAG QFRVIGPRHP IRALVGDEVE LPCRISPGKN
ATGMEVGWYR PPFSRVVHLY RNGKDQDGDQ APEYRGRTEL LKDAIGEGKV TLRIRNVRFS
DEGGFTCFFR DHSYQEEAAM ELKVEDPFYW VSPGVLVLLA VLPVLLLQIT VGLIFLCLQY
RLRGKLRAEI ENLHRTFDPH FLRVPCWKIT LFVIVPVLGP LVALIICYNW LHRRLAGQFL
EELRNPF*
mutated AA sequence MASLSRPSLP SCLCSFLLLL LLQVSSSYAG QFRVIGPRHP IRALVGDEVE LPCRISPGKN
ATGMEVGWYR PPFSRVVHLY RNGKDQDGDQ APEYRGRTEL LKDAIGEGKV TLRIRNVRFS
DEGGFTCFFR DHSYQEEAAM ELKVEDPFYW VSPGVLVLLA VLPVLLLQIT LGLIFLCLQY
RLRGKLRAEI ENLHRTFDPH FLRVPCWKIT LFVIVPVLGP LVALIICYNW LHRRLAGQFL
EELRNPF*
speed 0.77 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: 0.999999995252558 (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) chr6:29634003G>CN/A show variant in all transcripts   IGV
HGNC symbol MOG
Ensembl transcript ID ENST00000376894
Genbank transcript ID N/A
UniProt peptide Q16653
alteration type single base exchange
alteration region CDS
DNA changes c.511G>C
cDNA.629G>C
g.9246G>C
AA changes V171L Score: 32 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 171
frameshift no
known variant Reference ID: rs2857766
databasehomozygous (C/C)heterozygousallele carriers
1000G96712808
ExAC32441932122565
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-2.5760
-0.0140.013
(flanking)1.4110.179
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased9237wt: 0.8208 / mu: 0.8540 (marginal change - not scored)wt: TGCTGCCTGTGCTCCTCCTGCAGATCACTGTTGGCCTCATC
mu: TGCTGCCTGTGCTCCTCCTGCAGATCACTCTTGGCCTCATC		 ctgc|AGAT
Donor increased9238wt: 0.25 / mu: 0.49wt: CCTGCAGATCACTGT
mu: CCTGCAGATCACTCT		 TGCA|gatc
distance from splice site 40
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      171AVLPVLLLQITVGLIFLCLQYRLR
mutated  all conserved    171AVLPVLLLQITLGLIFLCLQY
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000002967  171AVLPVLLLQITVGLVFLCLQY
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000076439  171ALVPTILLQVSVGLVFLFLQH
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
155175TRANSMEMHelical; (Potential).lost
176210TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
211231TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
232247TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 888 / 888
position (AA) of stopcodon in wt / mu AA sequence 296 / 296
position of stopcodon in wt / mu cDNA 1006 / 1006
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 119 / 119
chromosome 6
strand 1
last intron/exon boundary 828
theoretical NMD boundary in CDS 659
length of CDS 888
coding sequence (CDS) position 511
cDNA position
(for ins/del: last normal base / first normal base)		 629
gDNA position
(for ins/del: last normal base / first normal base)		 9246
chromosomal position
(for ins/del: last normal base / first normal base)		 29634003
original gDNA sequence snippet TGCTCCTCCTGCAGATCACTGTTGGCCTCATCTTCCTCTGC
altered gDNA sequence snippet TGCTCCTCCTGCAGATCACTCTTGGCCTCATCTTCCTCTGC
original cDNA sequence snippet TGCTCCTCCTGCAGATCACTGTTGGCCTCATCTTCCTCTGC
altered cDNA sequence snippet TGCTCCTCCTGCAGATCACTCTTGGCCTCATCTTCCTCTGC
wildtype AA sequence MASLSRPSLP SCLCSFLLLL LLQVSSSYAG QFRVIGPRHP IRALVGDEVE LPCRISPGKN
ATGMEVGWYR PPFSRVVHLY RNGKDQDGDQ APEYRGRTEL LKDAIGEGKV TLRIRNVRFS
DEGGFTCFFR DHSYQEEAAM ELKVEDPFYW VSPGVLVLLA VLPVLLLQIT VGLIFLCLQY
RLRGKLRAEI ENLHRTFDPH FLRVPCWKIT LFVIVPVLGP LVALIICYNW LHRRLAGQFL
EELRKFSSLC YKQRIKSQER ETEATRGRGG LLRDHIPRGK EELESLGGGK TPPGR*
mutated AA sequence MASLSRPSLP SCLCSFLLLL LLQVSSSYAG QFRVIGPRHP IRALVGDEVE LPCRISPGKN
ATGMEVGWYR PPFSRVVHLY RNGKDQDGDQ APEYRGRTEL LKDAIGEGKV TLRIRNVRFS
DEGGFTCFFR DHSYQEEAAM ELKVEDPFYW VSPGVLVLLA VLPVLLLQIT LGLIFLCLQY
RLRGKLRAEI ENLHRTFDPH FLRVPCWKIT LFVIVPVLGP LVALIICYNW LHRRLAGQFL
EELRKFSSLC YKQRIKSQER ETEATRGRGG LLRDHIPRGK EELESLGGGK TPPGR*
speed 0.80 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: 0.999999995252558 (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) chr6:29634003G>CN/A show variant in all transcripts   IGV
HGNC symbol MOG
Ensembl transcript ID ENST00000376891
Genbank transcript ID NM_001008229
UniProt peptide Q16653
alteration type single base exchange
alteration region CDS
DNA changes c.511G>C
cDNA.511G>C
g.9246G>C
AA changes V171L Score: 32 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 171
frameshift no
known variant Reference ID: rs2857766
databasehomozygous (C/C)heterozygousallele carriers
1000G96712808
ExAC32441932122565
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-2.5760
-0.0140.013
(flanking)1.4110.179
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased9237wt: 0.8208 / mu: 0.8540 (marginal change - not scored)wt: TGCTGCCTGTGCTCCTCCTGCAGATCACTGTTGGCCTCATC
mu: TGCTGCCTGTGCTCCTCCTGCAGATCACTCTTGGCCTCATC		 ctgc|AGAT
Donor increased9238wt: 0.25 / mu: 0.49wt: CCTGCAGATCACTGT
mu: CCTGCAGATCACTCT		 TGCA|gatc
distance from splice site 40
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      171AVLPVLLLQITVGLIFLCLQYRLR
mutated  all conserved    171AVLPVLLLQITLGLIFLCLQY
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000002967  171AVLPVLLLQITVGLVFLCLQY
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000076439  171ALVPTILLQVSVGLVFLFLQH
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
155175TRANSMEMHelical; (Potential).lost
176210TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
211231TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
232247TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 621 / 621
position (AA) of stopcodon in wt / mu AA sequence 207 / 207
position of stopcodon in wt / mu cDNA 621 / 621
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 1 / 1
chromosome 6
strand 1
last intron/exon boundary 593
theoretical NMD boundary in CDS 542
length of CDS 621
coding sequence (CDS) position 511
cDNA position
(for ins/del: last normal base / first normal base)		 511
gDNA position
(for ins/del: last normal base / first normal base)		 9246
chromosomal position
(for ins/del: last normal base / first normal base)		 29634003
original gDNA sequence snippet TGCTCCTCCTGCAGATCACTGTTGGCCTCATCTTCCTCTGC
altered gDNA sequence snippet TGCTCCTCCTGCAGATCACTCTTGGCCTCATCTTCCTCTGC
original cDNA sequence snippet TGCTCCTCCTGCAGATCACTGTTGGCCTCATCTTCCTCTGC
altered cDNA sequence snippet TGCTCCTCCTGCAGATCACTCTTGGCCTCATCTTCCTCTGC
wildtype AA sequence MASLSRPSLP SCLCSFLLLL LLQVSSSYAG QFRVIGPRHP IRALVGDEVE LPCRISPGKN
ATGMEVGWYR PPFSRVVHLY RNGKDQDGDQ APEYRGRTEL LKDAIGEGKV TLRIRNVRFS
DEGGFTCFFR DHSYQEEAAM ELKVEDPFYW VSPGVLVLLA VLPVLLLQIT VGLIFLCLQY
RLRGKLRAEI ENLHRTFVFH LEALSG*
mutated AA sequence MASLSRPSLP SCLCSFLLLL LLQVSSSYAG QFRVIGPRHP IRALVGDEVE LPCRISPGKN
ATGMEVGWYR PPFSRVVHLY RNGKDQDGDQ APEYRGRTEL LKDAIGEGKV TLRIRNVRFS
DEGGFTCFFR DHSYQEEAAM ELKVEDPFYW VSPGVLVLLA VLPVLLLQIT LGLIFLCLQY
RLRGKLRAEI ENLHRTFVFH LEALSG*
speed 0.74 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: 0.999999995252558 (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) chr6:29634003G>CN/A show variant in all transcripts   IGV
HGNC symbol MOG
Ensembl transcript ID ENST00000376898
Genbank transcript ID NM_002433
UniProt peptide Q16653
alteration type single base exchange
alteration region CDS
DNA changes c.511G>C
cDNA.511G>C
g.9246G>C
AA changes V171L Score: 32 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 171
frameshift no
known variant Reference ID: rs2857766
databasehomozygous (C/C)heterozygousallele carriers
1000G96712808
ExAC32441932122565
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-2.5760
-0.0140.013
(flanking)1.4110.179
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased9237wt: 0.8208 / mu: 0.8540 (marginal change - not scored)wt: TGCTGCCTGTGCTCCTCCTGCAGATCACTGTTGGCCTCATC
mu: TGCTGCCTGTGCTCCTCCTGCAGATCACTCTTGGCCTCATC		 ctgc|AGAT
Donor increased9238wt: 0.25 / mu: 0.49wt: CCTGCAGATCACTGT
mu: CCTGCAGATCACTCT		 TGCA|gatc
distance from splice site 40
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      171AVLPVLLLQITVGLIFLCLQYRLR
mutated  all conserved    171AVLPVLLLQITLGLIFLCLQY
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000002967  171AVLPVLLLQITVGLVFLCLQY
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000076439  171ALVPTILLQVSVGLVFLFLQH
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
155175TRANSMEMHelical; (Potential).lost
176210TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
211231TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
232247TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 759 / 759
position (AA) of stopcodon in wt / mu AA sequence 253 / 253
position of stopcodon in wt / mu cDNA 759 / 759
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 1 / 1
chromosome 6
strand 1
last intron/exon boundary 731
theoretical NMD boundary in CDS 680
length of CDS 759
coding sequence (CDS) position 511
cDNA position
(for ins/del: last normal base / first normal base)		 511
gDNA position
(for ins/del: last normal base / first normal base)		 9246
chromosomal position
(for ins/del: last normal base / first normal base)		 29634003
original gDNA sequence snippet TGCTCCTCCTGCAGATCACTGTTGGCCTCATCTTCCTCTGC
altered gDNA sequence snippet TGCTCCTCCTGCAGATCACTCTTGGCCTCATCTTCCTCTGC
original cDNA sequence snippet TGCTCCTCCTGCAGATCACTGTTGGCCTCATCTTCCTCTGC
altered cDNA sequence snippet TGCTCCTCCTGCAGATCACTCTTGGCCTCATCTTCCTCTGC
wildtype AA sequence MASLSRPSLP SCLCSFLLLL LLQVSSSYAG QFRVIGPRHP IRALVGDEVE LPCRISPGKN
ATGMEVGWYR PPFSRVVHLY RNGKDQDGDQ APEYRGRTEL LKDAIGEGKV TLRIRNVRFS
DEGGFTCFFR DHSYQEEAAM ELKVEDPFYW VSPGVLVLLA VLPVLLLQIT VGLIFLCLQY
RLRGKLRAEI ENLHRTFDPH FLRVPCWKIT LFVIVPVLGP LVALIICYNW LHRRLAGQFL
EELLFHLEAL SG*
mutated AA sequence MASLSRPSLP SCLCSFLLLL LLQVSSSYAG QFRVIGPRHP IRALVGDEVE LPCRISPGKN
ATGMEVGWYR PPFSRVVHLY RNGKDQDGDQ APEYRGRTEL LKDAIGEGKV TLRIRNVRFS
DEGGFTCFFR DHSYQEEAAM ELKVEDPFYW VSPGVLVLLA VLPVLLLQIT LGLIFLCLQY
RLRGKLRAEI ENLHRTFDPH FLRVPCWKIT LFVIVPVLGP LVALIICYNW LHRRLAGQFL
EELLFHLEAL SG*
speed 0.99 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: 0.999999995252558 (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) chr6:29634003G>CN/A show variant in all transcripts   IGV
HGNC symbol MOG
Ensembl transcript ID ENST00000431798
Genbank transcript ID NM_206812
UniProt peptide Q16653
alteration type single base exchange
alteration region CDS
DNA changes c.511G>C
cDNA.511G>C
g.9246G>C
AA changes V171L Score: 32 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 171
frameshift no
known variant Reference ID: rs2857766
databasehomozygous (C/C)heterozygousallele carriers
1000G96712808
ExAC32441932122565
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-2.5760
-0.0140.013
(flanking)1.4110.179
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased9237wt: 0.8208 / mu: 0.8540 (marginal change - not scored)wt: TGCTGCCTGTGCTCCTCCTGCAGATCACTGTTGGCCTCATC
mu: TGCTGCCTGTGCTCCTCCTGCAGATCACTCTTGGCCTCATC		 ctgc|AGAT
Donor increased9238wt: 0.25 / mu: 0.49wt: CCTGCAGATCACTGT
mu: CCTGCAGATCACTCT		 TGCA|gatc
distance from splice site 40
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      171AVLPVLLLQITVGLIFLCLQYRLR
mutated  all conserved    171AVLPVLLLQITLGLIFLCLQY
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000002967  171AVLPVLLLQITVGLVFLCLQY
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000076439  171ALVPTILLQVSVGLVFLFLQH
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
155175TRANSMEMHelical; (Potential).lost
176210TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
211231TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
232247TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 627 / 627
position (AA) of stopcodon in wt / mu AA sequence 209 / 209
position of stopcodon in wt / mu cDNA 627 / 627
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 1 / 1
chromosome 6
strand 1
last intron/exon boundary 614
theoretical NMD boundary in CDS 563
length of CDS 627
coding sequence (CDS) position 511
cDNA position
(for ins/del: last normal base / first normal base)		 511
gDNA position
(for ins/del: last normal base / first normal base)		 9246
chromosomal position
(for ins/del: last normal base / first normal base)		 29634003
original gDNA sequence snippet TGCTCCTCCTGCAGATCACTGTTGGCCTCATCTTCCTCTGC
altered gDNA sequence snippet TGCTCCTCCTGCAGATCACTCTTGGCCTCATCTTCCTCTGC
original cDNA sequence snippet TGCTCCTCCTGCAGATCACTGTTGGCCTCATCTTCCTCTGC
altered cDNA sequence snippet TGCTCCTCCTGCAGATCACTCTTGGCCTCATCTTCCTCTGC
wildtype AA sequence MASLSRPSLP SCLCSFLLLL LLQVSSSYAG QFRVIGPRHP IRALVGDEVE LPCRISPGKN
ATGMEVGWYR PPFSRVVHLY RNGKDQDGDQ APEYRGRTEL LKDAIGEGKV TLRIRNVRFS
DEGGFTCFFR DHSYQEEAAM ELKVEDPFYW VSPGVLVLLA VLPVLLLQIT VGLIFLCLQY
RLRGKLRAEI ENLHRTFGQF LEELRNPF*
mutated AA sequence MASLSRPSLP SCLCSFLLLL LLQVSSSYAG QFRVIGPRHP IRALVGDEVE LPCRISPGKN
ATGMEVGWYR PPFSRVVHLY RNGKDQDGDQ APEYRGRTEL LKDAIGEGKV TLRIRNVRFS
DEGGFTCFFR DHSYQEEAAM ELKVEDPFYW VSPGVLVLLA VLPVLLLQIT LGLIFLCLQY
RLRGKLRAEI ENLHRTFGQF LEELRNPF*
speed 0.81 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: 0.999999995252558 (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) chr6:29634003G>CN/A show variant in all transcripts   IGV
HGNC symbol MOG
Ensembl transcript ID ENST00000396701
Genbank transcript ID NM_206810
UniProt peptide Q16653
alteration type single base exchange
alteration region CDS
DNA changes c.511G>C
cDNA.511G>C
g.9246G>C
AA changes V171L Score: 32 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 171
frameshift no
known variant Reference ID: rs2857766
databasehomozygous (C/C)heterozygousallele carriers
1000G96712808
ExAC32441932122565
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-2.5760
-0.0140.013
(flanking)1.4110.179
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased9237wt: 0.8208 / mu: 0.8540 (marginal change - not scored)wt: TGCTGCCTGTGCTCCTCCTGCAGATCACTGTTGGCCTCATC
mu: TGCTGCCTGTGCTCCTCCTGCAGATCACTCTTGGCCTCATC		 ctgc|AGAT
Donor increased9238wt: 0.25 / mu: 0.49wt: CCTGCAGATCACTGT
mu: CCTGCAGATCACTCT		 TGCA|gatc
distance from splice site 40
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      171AVLPVLLLQITVGLIFLCLQYRLR
mutated  all conserved    171AVLPVLLLQITLGLIFLCLQY
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000002967  171AVLPVLLLQITVGLVFLCLQY
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000076439  171ALVPTILLQVSVGLVFLFLQH
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
155175TRANSMEMHelical; (Potential).lost
176210TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
211231TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
232247TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 642 / 642
position (AA) of stopcodon in wt / mu AA sequence 214 / 214
position of stopcodon in wt / mu cDNA 642 / 642
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 1 / 1
chromosome 6
strand 1
last intron/exon boundary 614
theoretical NMD boundary in CDS 563
length of CDS 642
coding sequence (CDS) position 511
cDNA position
(for ins/del: last normal base / first normal base)		 511
gDNA position
(for ins/del: last normal base / first normal base)		 9246
chromosomal position
(for ins/del: last normal base / first normal base)		 29634003
original gDNA sequence snippet TGCTCCTCCTGCAGATCACTGTTGGCCTCATCTTCCTCTGC
altered gDNA sequence snippet TGCTCCTCCTGCAGATCACTCTTGGCCTCATCTTCCTCTGC
original cDNA sequence snippet TGCTCCTCCTGCAGATCACTGTTGGCCTCATCTTCCTCTGC
altered cDNA sequence snippet TGCTCCTCCTGCAGATCACTCTTGGCCTCATCTTCCTCTGC
wildtype AA sequence MASLSRPSLP SCLCSFLLLL LLQVSSSYAG QFRVIGPRHP IRALVGDEVE LPCRISPGKN
ATGMEVGWYR PPFSRVVHLY RNGKDQDGDQ APEYRGRTEL LKDAIGEGKV TLRIRNVRFS
DEGGFTCFFR DHSYQEEAAM ELKVEDPFYW VSPGVLVLLA VLPVLLLQIT VGLIFLCLQY
RLRGKLRAEI ENLHRTFGQF LEELLFHLEA LSG*
mutated AA sequence MASLSRPSLP SCLCSFLLLL LLQVSSSYAG QFRVIGPRHP IRALVGDEVE LPCRISPGKN
ATGMEVGWYR PPFSRVVHLY RNGKDQDGDQ APEYRGRTEL LKDAIGEGKV TLRIRNVRFS
DEGGFTCFFR DHSYQEEAAM ELKVEDPFYW VSPGVLVLLA VLPVLLLQIT LGLIFLCLQY
RLRGKLRAEI ENLHRTFGQF LEELLFHLEA LSG*
speed 0.80 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: 0.999999995252558 (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) chr6:29634003G>CN/A show variant in all transcripts   IGV
HGNC symbol MOG
Ensembl transcript ID ENST00000396704
Genbank transcript ID NM_001008228
UniProt peptide Q16653
alteration type single base exchange
alteration region CDS
DNA changes c.511G>C
cDNA.511G>C
g.9246G>C
AA changes V171L Score: 32 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 171
frameshift no
known variant Reference ID: rs2857766
databasehomozygous (C/C)heterozygousallele carriers
1000G96712808
ExAC32441932122565
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-2.5760
-0.0140.013
(flanking)1.4110.179
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased9237wt: 0.8208 / mu: 0.8540 (marginal change - not scored)wt: TGCTGCCTGTGCTCCTCCTGCAGATCACTGTTGGCCTCATC
mu: TGCTGCCTGTGCTCCTCCTGCAGATCACTCTTGGCCTCATC		 ctgc|AGAT
Donor increased9238wt: 0.25 / mu: 0.49wt: CCTGCAGATCACTGT
mu: CCTGCAGATCACTCT		 TGCA|gatc
distance from splice site 40
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      171AVLPVLLLQITVGLIFLCLQYRLR
mutated  all conserved    171AVLPVLLLQITLGLIFLCLQY
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000002967  171AVLPVLLLQITVGLVFLCLQY
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000076439  171ALVPTILLQVSVGLVFLFLQH
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
155175TRANSMEMHelical; (Potential).lost
176210TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
211231TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
232247TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 675 / 675
position (AA) of stopcodon in wt / mu AA sequence 225 / 225
position of stopcodon in wt / mu cDNA 675 / 675
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 1 / 1
chromosome 6
strand 1
last intron/exon boundary 662
theoretical NMD boundary in CDS 611
length of CDS 675
coding sequence (CDS) position 511
cDNA position
(for ins/del: last normal base / first normal base)		 511
gDNA position
(for ins/del: last normal base / first normal base)		 9246
chromosomal position
(for ins/del: last normal base / first normal base)		 29634003
original gDNA sequence snippet TGCTCCTCCTGCAGATCACTGTTGGCCTCATCTTCCTCTGC
altered gDNA sequence snippet TGCTCCTCCTGCAGATCACTCTTGGCCTCATCTTCCTCTGC
original cDNA sequence snippet TGCTCCTCCTGCAGATCACTGTTGGCCTCATCTTCCTCTGC
altered cDNA sequence snippet TGCTCCTCCTGCAGATCACTCTTGGCCTCATCTTCCTCTGC
wildtype AA sequence MASLSRPSLP SCLCSFLLLL LLQVSSSYAG QFRVIGPRHP IRALVGDEVE LPCRISPGKN
ATGMEVGWYR PPFSRVVHLY RNGKDQDGDQ APEYRGRTEL LKDAIGEGKV TLRIRNVRFS
DEGGFTCFFR DHSYQEEAAM ELKVEDPFYW VSPGVLVLLA VLPVLLLQIT VGLIFLCLQY
RLRGKLRAEI ENLHRTFESF GVLGPQVKEP KKTGQFLEEL RNPF*
mutated AA sequence MASLSRPSLP SCLCSFLLLL LLQVSSSYAG QFRVIGPRHP IRALVGDEVE LPCRISPGKN
ATGMEVGWYR PPFSRVVHLY RNGKDQDGDQ APEYRGRTEL LKDAIGEGKV TLRIRNVRFS
DEGGFTCFFR DHSYQEEAAM ELKVEDPFYW VSPGVLVLLA VLPVLLLQIT LGLIFLCLQY
RLRGKLRAEI ENLHRTFESF GVLGPQVKEP KKTGQFLEEL RNPF*
speed 0.81 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: 0.999999995252558 (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) chr6:29634003G>CN/A show variant in all transcripts   IGV
HGNC symbol MOG
Ensembl transcript ID ENST00000494692
Genbank transcript ID NM_206811
UniProt peptide Q16653
alteration type single base exchange
alteration region CDS
DNA changes c.511G>C
cDNA.511G>C
g.9246G>C
AA changes V171L Score: 32 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 171
frameshift no
known variant Reference ID: rs2857766
databasehomozygous (C/C)heterozygousallele carriers
1000G96712808
ExAC32441932122565
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-2.5760
-0.0140.013
(flanking)1.4110.179
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased9237wt: 0.8208 / mu: 0.8540 (marginal change - not scored)wt: TGCTGCCTGTGCTCCTCCTGCAGATCACTGTTGGCCTCATC
mu: TGCTGCCTGTGCTCCTCCTGCAGATCACTCTTGGCCTCATC		 ctgc|AGAT
Donor increased9238wt: 0.25 / mu: 0.49wt: CCTGCAGATCACTGT
mu: CCTGCAGATCACTCT		 TGCA|gatc
distance from splice site 40
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      171AVLPVLLLQITVGLIFLCLQYRLR
mutated  all conserved    171AVLPVLLLQITLGLIFLCLQY
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000002967  171AVLPVLLLQITVGLVFLCLQY
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000076439  171ALVPTILLQVSVGLVFLFLQH
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
155175TRANSMEMHelical; (Potential).lost
176210TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
211231TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
232247TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 690 / 690
position (AA) of stopcodon in wt / mu AA sequence 230 / 230
position of stopcodon in wt / mu cDNA 690 / 690
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 1 / 1
chromosome 6
strand 1
last intron/exon boundary 662
theoretical NMD boundary in CDS 611
length of CDS 690
coding sequence (CDS) position 511
cDNA position
(for ins/del: last normal base / first normal base)		 511
gDNA position
(for ins/del: last normal base / first normal base)		 9246
chromosomal position
(for ins/del: last normal base / first normal base)		 29634003
original gDNA sequence snippet TGCTCCTCCTGCAGATCACTGTTGGCCTCATCTTCCTCTGC
altered gDNA sequence snippet TGCTCCTCCTGCAGATCACTCTTGGCCTCATCTTCCTCTGC
original cDNA sequence snippet TGCTCCTCCTGCAGATCACTGTTGGCCTCATCTTCCTCTGC
altered cDNA sequence snippet TGCTCCTCCTGCAGATCACTCTTGGCCTCATCTTCCTCTGC
wildtype AA sequence MASLSRPSLP SCLCSFLLLL LLQVSSSYAG QFRVIGPRHP IRALVGDEVE LPCRISPGKN
ATGMEVGWYR PPFSRVVHLY RNGKDQDGDQ APEYRGRTEL LKDAIGEGKV TLRIRNVRFS
DEGGFTCFFR DHSYQEEAAM ELKVEDPFYW VSPGVLVLLA VLPVLLLQIT VGLIFLCLQY
RLRGKLRAEI ENLHRTFESF GVLGPQVKEP KKTGQFLEEL LFHLEALSG*
mutated AA sequence MASLSRPSLP SCLCSFLLLL LLQVSSSYAG QFRVIGPRHP IRALVGDEVE LPCRISPGKN
ATGMEVGWYR PPFSRVVHLY RNGKDQDGDQ APEYRGRTEL LKDAIGEGKV TLRIRNVRFS
DEGGFTCFFR DHSYQEEAAM ELKVEDPFYW VSPGVLVLLA VLPVLLLQIT LGLIFLCLQY
RLRGKLRAEI ENLHRTFESF GVLGPQVKEP KKTGQFLEEL LFHLEALSG*
speed 0.81 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: 0.999993586636597 (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) chr6:29634003G>CN/A show variant in all transcripts   IGV
HGNC symbol MOG
Ensembl transcript ID ENST00000416766
Genbank transcript ID N/A
UniProt peptide Q16653
alteration type single base exchange
alteration region intron
DNA changes g.9246G>C
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs2857766
databasehomozygous (C/C)heterozygousallele carriers
1000G96712808
ExAC32441932122565
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-2.5760
-0.0140.013
(flanking)1.4110.179
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased9237wt: 0.8208 / mu: 0.8540 (marginal change - not scored)wt: TGCTGCCTGTGCTCCTCCTGCAGATCACTGTTGGCCTCATC
mu: TGCTGCCTGTGCTCCTCCTGCAGATCACTCTTGGCCTCATC		 ctgc|AGAT
Donor increased9238wt: 0.25 / mu: 0.49wt: CCTGCAGATCACTGT
mu: CCTGCAGATCACTCT		 TGCA|gatc
distance from splice site 1417
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
30154TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
155175TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
176210TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
211231TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
232247TOPO_DOMExtracellular (Potential).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 1 / 1
chromosome 6
strand 1
last intron/exon boundary 617
theoretical NMD boundary in CDS 566
length of CDS 630
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)		 9246
chromosomal position
(for ins/del: last normal base / first normal base)		 29634003
original gDNA sequence snippet TGCTCCTCCTGCAGATCACTGTTGGCCTCATCTTCCTCTGC
altered gDNA sequence snippet TGCTCCTCCTGCAGATCACTCTTGGCCTCATCTTCCTCTGC
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MASLSRPSLP SCLCSFLLLL LLQVSSSYAG QFRVIGPRHP IRALVGDEVE LPCRISPGKN
ATGMEVGWYR PPFSRVVHLY RNGKDQDGDQ APEYRGRTEL LKDAIGEGKV TLRIRNVRFS
DEGGFTCFFR DHSYQEEAAM ELKVEGKLRA EIENLHRTFD PHFLRVPCWK ITLFVIVPVL
GPLVALIICY NWLHRRLAGQ FLEELRNPF*
mutated AA sequence N/A
speed 0.60 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.999993586636597 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:29634003G>CN/A show variant in all transcripts   IGV
HGNC symbol MOG
Ensembl transcript ID ENST00000376902
Genbank transcript ID N/A
UniProt peptide N/A
alteration type single base exchange
alteration region 3'UTR
DNA changes cDNA.878G>C
g.9246G>C
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs2857766
databasehomozygous (C/C)heterozygousallele carriers
1000G96712808
ExAC32441932122565
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-2.5760
-0.0140.013
(flanking)1.4110.179
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change occurs after stopcodon (at aa 213)
effectgDNA positionscoredetection sequence  exon-intron border
Acc marginally increased9237wt: 0.8208 / mu: 0.8540 (marginal change - not scored)wt: TGCTGCCTGTGCTCCTCCTGCAGATCACTGTTGGCCTCATC
mu: TGCTGCCTGTGCTCCTCCTGCAGATCACTCTTGGCCTCATC		 ctgc|AGAT
Donor increased9238wt: 0.25 / mu: 0.49wt: CCTGCAGATCACTGT
mu: CCTGCAGATCACTCT		 TGCA|gatc
distance from splice site 40
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features N/A
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 signal is predicted to be ok
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 230 / 230
chromosome 6
strand 1
last intron/exon boundary 1098
theoretical NMD boundary in CDS 818
length of CDS 516
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 878
gDNA position
(for ins/del: last normal base / first normal base)		 9246
chromosomal position
(for ins/del: last normal base / first normal base)		 29634003
original gDNA sequence snippet TGCTCCTCCTGCAGATCACTGTTGGCCTCATCTTCCTCTGC
altered gDNA sequence snippet TGCTCCTCCTGCAGATCACTCTTGGCCTCATCTTCCTCTGC
original cDNA sequence snippet TGCTCCTCCTGCAGATCACTGTTGGCCTCATCTTCCTCTGC
altered cDNA sequence snippet TGCTCCTCCTGCAGATCACTCTTGGCCTCATCTTCCTCTGC
wildtype AA sequence MASLSRPSLP SCLCSFLLLL LLQVSSSYAG QFRVIGPRHP IRALVGDEVE LPCRISPGKN
ATGMEVGWYR PPFSRVVHLY RNGKDQDGDQ APEYRGRTEL LKDAIGEGKV TLRIRNVRFS
DEGGFTCFFR DHSYQEEAAM ELKVEVSHSV TQDWLQWHDH GSLQPPPPRL K*
mutated AA sequence N/A
speed 0.76 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: 0.999993586636597 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:29634003G>CN/A show variant in all transcripts   IGV
HGNC symbol MOG
Ensembl transcript ID ENST00000533330
Genbank transcript ID N/A
UniProt peptide N/A
alteration type single base exchange
alteration region 3'UTR
DNA changes cDNA.878G>C
g.9246G>C
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs2857766
databasehomozygous (C/C)heterozygousallele carriers
1000G96712808
ExAC32441932122565
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-2.5760
-0.0140.013
(flanking)1.4110.179
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change occurs after stopcodon (at aa 213)
effectgDNA positionscoredetection sequence  exon-intron border
Acc marginally increased9237wt: 0.8208 / mu: 0.8540 (marginal change - not scored)wt: TGCTGCCTGTGCTCCTCCTGCAGATCACTGTTGGCCTCATC
mu: TGCTGCCTGTGCTCCTCCTGCAGATCACTCTTGGCCTCATC		 ctgc|AGAT
Donor increased9238wt: 0.25 / mu: 0.49wt: CCTGCAGATCACTGT
mu: CCTGCAGATCACTCT		 TGCA|gatc
distance from splice site 40
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features N/A
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 signal is predicted to be ok
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 230 / 230
chromosome 6
strand 1
last intron/exon boundary 1098
theoretical NMD boundary in CDS 818
length of CDS 516
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 878
gDNA position
(for ins/del: last normal base / first normal base)		 9246
chromosomal position
(for ins/del: last normal base / first normal base)		 29634003
original gDNA sequence snippet TGCTCCTCCTGCAGATCACTGTTGGCCTCATCTTCCTCTGC
altered gDNA sequence snippet TGCTCCTCCTGCAGATCACTCTTGGCCTCATCTTCCTCTGC
original cDNA sequence snippet TGCTCCTCCTGCAGATCACTGTTGGCCTCATCTTCCTCTGC
altered cDNA sequence snippet TGCTCCTCCTGCAGATCACTCTTGGCCTCATCTTCCTCTGC
wildtype AA sequence MASLSRPSLP SCLCSFLLLL LLQVSSSYAG QFRVIGPRHP IRALVGDEVE LPCRISPGKN
ATGMEVGWYR PPFSRVVHLY RNGKDQDGDQ APEYRGRTEL LKDAIGEGKV TLRIRNVRFS
DEGGFTCFFR DHSYQEEAAM ELKVEVSHSV TQDWLQWHDH GSLQPPPPRL K*
mutated AA sequence N/A
speed 0.68 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