Yum, tasty mutations...

MutationTaster - study a chromosomal position

MTQE documentation
NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 6 transcript(s)...
Querying Taster for transcript #1: ENST00000428869
Querying Taster for transcript #2: ENST00000431965
Querying Taster for transcript #3: ENST00000256425
Querying Taster for transcript #4: ENST00000588444
Querying Taster for transcript #5: ENST00000436348
Querying Taster for transcript #6: ENST00000398439
MT speed 0 s - this script 7.140001 s

Results


genesymbolpredictionprobabilitymodelprediction
problem
splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
MROpolymorphism_automatic1.00319752505129e-11simple_aaeR39Ssingle base exchangers4940019show file
MROpolymorphism_automatic1.00319752505129e-11simple_aaeR39Ssingle base exchangers4940019show file
MROpolymorphism_automatic1.00319752505129e-11simple_aaeR53Ssingle base exchangers4940019show file
MROpolymorphism_automatic1.00319752505129e-11simple_aaeR39Ssingle base exchangers4940019show file
MROpolymorphism_automatic1.00319752505129e-11simple_aaeR53Ssingle base exchangers4940019show file
MROpolymorphism_automatic1.00319752505129e-11simple_aaeR39Ssingle base exchangers4940019show file

Taster files

Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999989968 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr18:48333203C>GN/A show variant in all transcripts   IGV
HGNC symbol MRO
Ensembl transcript ID ENST00000428869
Genbank transcript ID N/A
UniProt peptide Q9BYG7
alteration type single base exchange
alteration region CDS
DNA changes c.117G>C
cDNA.376G>C
g.18570G>C
AA changes R39S Score: 110 explain score(s)
position(s) of altered AA
if AA alteration in CDS
39
frameshift no
known variant Reference ID: rs4940019
databasehomozygous (G/G)heterozygousallele carriers
1000G62110771698
ExAC17072-137715695
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H2AZ, Histone, Histone 2A variant Z
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.6590.022
0.6040.028
(flanking)0.0150.033
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 increased18561wt: 0.4713 / mu: 0.5282 (marginal change - not scored)wt: CCCATCACCCAGGTCTCTTGGAAACTGAGGTTCCAGAAGCG
mu: CCCATCACCCAGGTCTCTTGGAAACTGAGCTTCCAGAAGCG
 ttgg|AAAC
Donor marginally increased18573wt: 0.9248 / mu: 0.9640 (marginal change - not scored)wt: AGGTTCCAGAAGCGG
mu: AGCTTCCAGAAGCGG
 GTTC|caga
distance from splice site 18
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      39ISFFSKVSWKLRFQKREPLKNVFF
mutated  not conserved    39ISFFSKVSWKLSFQKREPLKNVF
Ptroglodytes  all identical  ENSPTRG00000010025  53QVSWKLRFQKREPLKNVF
Mmulatta  all conserved  ENSMMUG00000022472  45ISFFSKMCTTSVLKCLQMCTRSVLKYVY
Fcatus  not conserved  ENSFCAG00000005654  39VSFFSKISWTVSLQKQEPPKNVF
Mmusculus  all identical  ENSMUSG00000064036  36LSFLSKVSWKLRLQKRELLKNAL
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 747 / 747
position (AA) of stopcodon in wt / mu AA sequence 249 / 249
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 260 / 260
chromosome 18
strand -1
last intron/exon boundary 953
theoretical NMD boundary in CDS 643
length of CDS 747
coding sequence (CDS) position 117
cDNA position
(for ins/del: last normal base / first normal base)
376
gDNA position
(for ins/del: last normal base / first normal base)
18570
chromosomal position
(for ins/del: last normal base / first normal base)
48333203
original gDNA sequence snippet CAGGTCTCTTGGAAACTGAGGTTCCAGAAGCGGGAGCCTCT
altered gDNA sequence snippet CAGGTCTCTTGGAAACTGAGCTTCCAGAAGCGGGAGCCTCT
original cDNA sequence snippet AAGGTCTCTTGGAAACTGAGGTTCCAGAAGCGGGAGCCTCT
altered cDNA sequence snippet AAGGTCTCTTGGAAACTGAGCTTCCAGAAGCGGGAGCCTCT
wildtype AA sequence MDQRQRRILG QPLSIPTSQP KQKRTSMISF FSKVSWKLRF QKREPLKNVF FILAERARDP
SAKKRHMAMR NLGTMAYEAP DKVRKYKKIV LDLLVYGLYD PVNLEVIHES MKTLTVVLGK
IQGKGLGSFF IDITLQTRTL LDDENDSLRY SAFVLFGQLA AFAGRKWKKF FTSQVKQTRD
SLLIHLQDRN PQVAKACKTT FQACSPYLKL KEEYSFQSEE DQRNTKLYQQ LSHYHPEILQ
FFYANKIL*
mutated AA sequence MDQRQRRILG QPLSIPTSQP KQKRTSMISF FSKVSWKLSF QKREPLKNVF FILAERARDP
SAKKRHMAMR NLGTMAYEAP DKVRKYKKIV LDLLVYGLYD PVNLEVIHES MKTLTVVLGK
IQGKGLGSFF IDITLQTRTL LDDENDSLRY SAFVLFGQLA AFAGRKWKKF FTSQVKQTRD
SLLIHLQDRN PQVAKACKTT FQACSPYLKL KEEYSFQSEE DQRNTKLYQQ LSHYHPEILQ
FFYANKIL*
speed 1.69 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: 0.999999999989968 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr18:48333203C>GN/A show variant in all transcripts   IGV
HGNC symbol MRO
Ensembl transcript ID ENST00000256425
Genbank transcript ID N/A
UniProt peptide Q9BYG7
alteration type single base exchange
alteration region CDS
DNA changes c.117G>C
cDNA.319G>C
g.18570G>C
AA changes R39S Score: 110 explain score(s)
position(s) of altered AA
if AA alteration in CDS
39
frameshift no
known variant Reference ID: rs4940019
databasehomozygous (G/G)heterozygousallele carriers
1000G62110771698
ExAC17072-137715695
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H2AZ, Histone, Histone 2A variant Z
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.6590.022
0.6040.028
(flanking)0.0150.033
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 increased18561wt: 0.4713 / mu: 0.5282 (marginal change - not scored)wt: CCCATCACCCAGGTCTCTTGGAAACTGAGGTTCCAGAAGCG
mu: CCCATCACCCAGGTCTCTTGGAAACTGAGCTTCCAGAAGCG
 ttgg|AAAC
Donor marginally increased18573wt: 0.9248 / mu: 0.9640 (marginal change - not scored)wt: AGGTTCCAGAAGCGG
mu: AGCTTCCAGAAGCGG
 GTTC|caga
distance from splice site 18
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      39ISFFSKVSWKLRFQKREPLKNVFF
mutated  not conserved    39ISFFSKVSWKLSFQKREPLKNVF
Ptroglodytes  all identical  ENSPTRG00000010025  53QVSWKLRFQKREPLKNVF
Mmulatta  all conserved  ENSMMUG00000022472  45ISFFSKMCTTSVLKCLQMCTRSVLKYVY
Fcatus  not conserved  ENSFCAG00000005654  39VSFFSKISWTVSLQKQEPPKNVF
Mmusculus  all identical  ENSMUSG00000064036  36LSFLSKVSWKLRLQKRELLKNAL
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 747 / 747
position (AA) of stopcodon in wt / mu AA sequence 249 / 249
position of stopcodon in wt / mu cDNA 949 / 949
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 203 / 203
chromosome 18
strand -1
last intron/exon boundary 896
theoretical NMD boundary in CDS 643
length of CDS 747
coding sequence (CDS) position 117
cDNA position
(for ins/del: last normal base / first normal base)
319
gDNA position
(for ins/del: last normal base / first normal base)
18570
chromosomal position
(for ins/del: last normal base / first normal base)
48333203
original gDNA sequence snippet CAGGTCTCTTGGAAACTGAGGTTCCAGAAGCGGGAGCCTCT
altered gDNA sequence snippet CAGGTCTCTTGGAAACTGAGCTTCCAGAAGCGGGAGCCTCT
original cDNA sequence snippet AAGGTCTCTTGGAAACTGAGGTTCCAGAAGCGGGAGCCTCT
altered cDNA sequence snippet AAGGTCTCTTGGAAACTGAGCTTCCAGAAGCGGGAGCCTCT
wildtype AA sequence MDQRQRRILG QPLSIPTSQP KQKRTSMISF FSKVSWKLRF QKREPLKNVF FILAERARDP
SAKKRHMAMR NLGTMAYEAP DKVRKYKKIV LDLLVYGLYD PVNLEVIHES MKTLTVVLGK
IQGKGLGSFF IDITLQTRTL LDDENDSLRY SAFVLFGQLA AFAGRKWKKF FTSQVKQTRD
SLLIHLQDRN PQVAKACKTT FQACSPYLKL KEEYSFQSEE DQRNTKLYQQ LSHYHPEILQ
FFYANKIL*
mutated AA sequence MDQRQRRILG QPLSIPTSQP KQKRTSMISF FSKVSWKLSF QKREPLKNVF FILAERARDP
SAKKRHMAMR NLGTMAYEAP DKVRKYKKIV LDLLVYGLYD PVNLEVIHES MKTLTVVLGK
IQGKGLGSFF IDITLQTRTL LDDENDSLRY SAFVLFGQLA AFAGRKWKKF FTSQVKQTRD
SLLIHLQDRN PQVAKACKTT FQACSPYLKL KEEYSFQSEE DQRNTKLYQQ LSHYHPEILQ
FFYANKIL*
speed 1.81 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: 0.999999999989968 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr18:48333203C>GN/A show variant in all transcripts   IGV
HGNC symbol MRO
Ensembl transcript ID ENST00000431965
Genbank transcript ID NM_001127175
UniProt peptide Q9BYG7
alteration type single base exchange
alteration region CDS
DNA changes c.159G>C
cDNA.308G>C
g.18570G>C
AA changes R53S Score: 110 explain score(s)
position(s) of altered AA
if AA alteration in CDS
53
frameshift no
known variant Reference ID: rs4940019
databasehomozygous (G/G)heterozygousallele carriers
1000G62110771698
ExAC17072-137715695
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H2AZ, Histone, Histone 2A variant Z
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.6590.022
0.6040.028
(flanking)0.0150.033
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 increased18561wt: 0.4713 / mu: 0.5282 (marginal change - not scored)wt: CCCATCACCCAGGTCTCTTGGAAACTGAGGTTCCAGAAGCG
mu: CCCATCACCCAGGTCTCTTGGAAACTGAGCTTCCAGAAGCG
 ttgg|AAAC
Donor marginally increased18573wt: 0.9248 / mu: 0.9640 (marginal change - not scored)wt: AGGTTCCAGAAGCGG
mu: AGCTTCCAGAAGCGG
 GTTC|caga
distance from splice site 18
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      53RLQEPQVSWKLRFQKREPLKNVFF
mutated  not conserved    53RLQEPQVSWKLSFQKREPL
Ptroglodytes  all identical  ENSPTRG00000010025  53RLQEPQVSWKLRFQKREPL
Mmulatta  all conserved  ENSMMUG00000022472  50KMCTTSVLKCLQMCTRSVLKYVY
Fcatus  not conserved  ENSFCAG00000005654  39KISWTVSLQKQEPPKNVF
Mmusculus  all identical  ENSMUSG00000064036  36KVSWKLRLQKRELLKNAL
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 633 / 633
position (AA) of stopcodon in wt / mu AA sequence 211 / 211
position of stopcodon in wt / mu cDNA 782 / 782
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 150 / 150
chromosome 18
strand -1
last intron/exon boundary 729
theoretical NMD boundary in CDS 529
length of CDS 633
coding sequence (CDS) position 159
cDNA position
(for ins/del: last normal base / first normal base)
308
gDNA position
(for ins/del: last normal base / first normal base)
18570
chromosomal position
(for ins/del: last normal base / first normal base)
48333203
original gDNA sequence snippet CAGGTCTCTTGGAAACTGAGGTTCCAGAAGCGGGAGCCTCT
altered gDNA sequence snippet CAGGTCTCTTGGAAACTGAGCTTCCAGAAGCGGGAGCCTCT
original cDNA sequence snippet CAGGTCTCTTGGAAACTGAGGTTCCAGAAGCGGGAGCCTCT
altered cDNA sequence snippet CAGGTCTCTTGGAAACTGAGCTTCCAGAAGCGGGAGCCTCT
wildtype AA sequence MAWGSKGIQG WENLAESSHL ATTRESSPPE SGTGSGSSRG SRLQEPQVSW KLRFQKREPL
KNVFFILAER ARDPSAKKRH MAMRNLGTMA YEAPDKVRKY KKIVLDLLVY GLYDPVNLEV
IHESMKTLTV VLGKIQGKGL GSFFIDITLQ TRTLLDDACK TTFQACSPYL KLKEEYSFQS
EEDQRNTKLY QQLSHYHPEI LQFFYANKIL *
mutated AA sequence MAWGSKGIQG WENLAESSHL ATTRESSPPE SGTGSGSSRG SRLQEPQVSW KLSFQKREPL
KNVFFILAER ARDPSAKKRH MAMRNLGTMA YEAPDKVRKY KKIVLDLLVY GLYDPVNLEV
IHESMKTLTV VLGKIQGKGL GSFFIDITLQ TRTLLDDACK TTFQACSPYL KLKEEYSFQS
EEDQRNTKLY QQLSHYHPEI LQFFYANKIL *
speed 1.75 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: 0.999999999989968 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr18:48333203C>GN/A show variant in all transcripts   IGV
HGNC symbol MRO
Ensembl transcript ID ENST00000588444
Genbank transcript ID NM_001127174
UniProt peptide Q9BYG7
alteration type single base exchange
alteration region CDS
DNA changes c.117G>C
cDNA.193G>C
g.18570G>C
AA changes R39S Score: 110 explain score(s)
position(s) of altered AA
if AA alteration in CDS
39
frameshift no
known variant Reference ID: rs4940019
databasehomozygous (G/G)heterozygousallele carriers
1000G62110771698
ExAC17072-137715695
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H2AZ, Histone, Histone 2A variant Z
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.6590.022
0.6040.028
(flanking)0.0150.033
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 increased18561wt: 0.4713 / mu: 0.5282 (marginal change - not scored)wt: CCCATCACCCAGGTCTCTTGGAAACTGAGGTTCCAGAAGCG
mu: CCCATCACCCAGGTCTCTTGGAAACTGAGCTTCCAGAAGCG
 ttgg|AAAC
Donor marginally increased18573wt: 0.9248 / mu: 0.9640 (marginal change - not scored)wt: AGGTTCCAGAAGCGG
mu: AGCTTCCAGAAGCGG
 GTTC|caga
distance from splice site 18
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      39ISFFSKVSWKLRFQKREPLKNVFF
mutated  not conserved    39ISFFSKVSWKLSFQKREPLKNVF
Ptroglodytes  all identical  ENSPTRG00000010025  53QVSWKLRFQKREPLKNVF
Mmulatta  all conserved  ENSMMUG00000022472  45ISFFSKMCTTSVLKCLQMCTRSVLKYVY
Fcatus  not conserved  ENSFCAG00000005654  39VSFFSKISWTVSLQKQEPPKNVF
Mmusculus  all identical  ENSMUSG00000064036  36LSFLSKVSWKLRLQKRELLKNAL
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 591 / 591
position (AA) of stopcodon in wt / mu AA sequence 197 / 197
position of stopcodon in wt / mu cDNA 667 / 667
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 77 / 77
chromosome 18
strand -1
last intron/exon boundary 614
theoretical NMD boundary in CDS 487
length of CDS 591
coding sequence (CDS) position 117
cDNA position
(for ins/del: last normal base / first normal base)
193
gDNA position
(for ins/del: last normal base / first normal base)
18570
chromosomal position
(for ins/del: last normal base / first normal base)
48333203
original gDNA sequence snippet CAGGTCTCTTGGAAACTGAGGTTCCAGAAGCGGGAGCCTCT
altered gDNA sequence snippet CAGGTCTCTTGGAAACTGAGCTTCCAGAAGCGGGAGCCTCT
original cDNA sequence snippet AAGGTCTCTTGGAAACTGAGGTTCCAGAAGCGGGAGCCTCT
altered cDNA sequence snippet AAGGTCTCTTGGAAACTGAGCTTCCAGAAGCGGGAGCCTCT
wildtype AA sequence MDQRQRRILG QPLSIPTSQP KQKRTSMISF FSKVSWKLRF QKREPLKNVF FILAERARDP
SAKKRHMAMR NLGTMAYEAP DKVRKYKKIV LDLLVYGLYD PVNLEVIHES MKTLTVVLGK
IQGKGLGSFF IDITLQTRTL LDDACKTTFQ ACSPYLKLKE EYSFQSEEDQ RNTKLYQQLS
HYHPEILQFF YANKIL*
mutated AA sequence MDQRQRRILG QPLSIPTSQP KQKRTSMISF FSKVSWKLSF QKREPLKNVF FILAERARDP
SAKKRHMAMR NLGTMAYEAP DKVRKYKKIV LDLLVYGLYD PVNLEVIHES MKTLTVVLGK
IQGKGLGSFF IDITLQTRTL LDDACKTTFQ ACSPYLKLKE EYSFQSEEDQ RNTKLYQQLS
HYHPEILQFF YANKIL*
speed 1.48 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: 0.999999999989968 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr18:48333203C>GN/A show variant in all transcripts   IGV
HGNC symbol MRO
Ensembl transcript ID ENST00000436348
Genbank transcript ID NM_001127176
UniProt peptide Q9BYG7
alteration type single base exchange
alteration region CDS
DNA changes c.159G>C
cDNA.308G>C
g.18570G>C
AA changes R53S Score: 110 explain score(s)
position(s) of altered AA
if AA alteration in CDS
53
frameshift no
known variant Reference ID: rs4940019
databasehomozygous (G/G)heterozygousallele carriers
1000G62110771698
ExAC17072-137715695
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H2AZ, Histone, Histone 2A variant Z
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.6590.022
0.6040.028
(flanking)0.0150.033
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 increased18561wt: 0.4713 / mu: 0.5282 (marginal change - not scored)wt: CCCATCACCCAGGTCTCTTGGAAACTGAGGTTCCAGAAGCG
mu: CCCATCACCCAGGTCTCTTGGAAACTGAGCTTCCAGAAGCG
 ttgg|AAAC
Donor marginally increased18573wt: 0.9248 / mu: 0.9640 (marginal change - not scored)wt: AGGTTCCAGAAGCGG
mu: AGCTTCCAGAAGCGG
 GTTC|caga
distance from splice site 18
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      53RLQEPQVSWKLRFQKREPLKNVFF
mutated  not conserved    53RLQEPQVSWKLSFQKREPL
Ptroglodytes  all identical  ENSPTRG00000010025  53RLQEPQVSWKLRFQKREPL
Mmulatta  all conserved  ENSMMUG00000022472  50KMCTTSVLKCLQMCTRSVLKYVY
Fcatus  not conserved  ENSFCAG00000005654  39KISWTVSLQKQEPPKNVF
Mmusculus  all identical  ENSMUSG00000064036  36KVSWKLRLQKRELLKNAL
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 789 / 789
position (AA) of stopcodon in wt / mu AA sequence 263 / 263
position of stopcodon in wt / mu cDNA 938 / 938
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 150 / 150
chromosome 18
strand -1
last intron/exon boundary 885
theoretical NMD boundary in CDS 685
length of CDS 789
coding sequence (CDS) position 159
cDNA position
(for ins/del: last normal base / first normal base)
308
gDNA position
(for ins/del: last normal base / first normal base)
18570
chromosomal position
(for ins/del: last normal base / first normal base)
48333203
original gDNA sequence snippet CAGGTCTCTTGGAAACTGAGGTTCCAGAAGCGGGAGCCTCT
altered gDNA sequence snippet CAGGTCTCTTGGAAACTGAGCTTCCAGAAGCGGGAGCCTCT
original cDNA sequence snippet CAGGTCTCTTGGAAACTGAGGTTCCAGAAGCGGGAGCCTCT
altered cDNA sequence snippet CAGGTCTCTTGGAAACTGAGCTTCCAGAAGCGGGAGCCTCT
wildtype AA sequence MAWGSKGIQG WENLAESSHL ATTRESSPPE SGTGSGSSRG SRLQEPQVSW KLRFQKREPL
KNVFFILAER ARDPSAKKRH MAMRNLGTMA YEAPDKVRKY KKIVLDLLVY GLYDPVNLEV
IHESMKTLTV VLGKIQGKGL GSFFIDITLQ TRTLLDDEND SLRYSAFVLF GQLAAFAGRK
WKKFFTSQVK QTRDSLLIHL QDRNPQVAKA CKTTFQACSP YLKLKEEYSF QSEEDQRNTK
LYQQLSHYHP EILQFFYANK IL*
mutated AA sequence MAWGSKGIQG WENLAESSHL ATTRESSPPE SGTGSGSSRG SRLQEPQVSW KLSFQKREPL
KNVFFILAER ARDPSAKKRH MAMRNLGTMA YEAPDKVRKY KKIVLDLLVY GLYDPVNLEV
IHESMKTLTV VLGKIQGKGL GSFFIDITLQ TRTLLDDEND SLRYSAFVLF GQLAAFAGRK
WKKFFTSQVK QTRDSLLIHL QDRNPQVAKA CKTTFQACSP YLKLKEEYSF QSEEDQRNTK
LYQQLSHYHP EILQFFYANK IL*
speed 1.72 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: 0.999999999989968 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr18:48333203C>GN/A show variant in all transcripts   IGV
HGNC symbol MRO
Ensembl transcript ID ENST00000398439
Genbank transcript ID NM_031939
UniProt peptide Q9BYG7
alteration type single base exchange
alteration region CDS
DNA changes c.117G>C
cDNA.411G>C
g.18570G>C
AA changes R39S Score: 110 explain score(s)
position(s) of altered AA
if AA alteration in CDS
39
frameshift no
known variant Reference ID: rs4940019
databasehomozygous (G/G)heterozygousallele carriers
1000G62110771698
ExAC17072-137715695
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H2AZ, Histone, Histone 2A variant Z
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.6590.022
0.6040.028
(flanking)0.0150.033
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 increased18561wt: 0.4713 / mu: 0.5282 (marginal change - not scored)wt: CCCATCACCCAGGTCTCTTGGAAACTGAGGTTCCAGAAGCG
mu: CCCATCACCCAGGTCTCTTGGAAACTGAGCTTCCAGAAGCG
 ttgg|AAAC
Donor marginally increased18573wt: 0.9248 / mu: 0.9640 (marginal change - not scored)wt: AGGTTCCAGAAGCGG
mu: AGCTTCCAGAAGCGG
 GTTC|caga
distance from splice site 18
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      39ISFFSKVSWKLRFQKREPLKNVFF
mutated  not conserved    39ISFFSKVSWKLSFQKREPLKNVF
Ptroglodytes  all identical  ENSPTRG00000010025  53QVSWKLRFQKREPLKNVF
Mmulatta  all conserved  ENSMMUG00000022472  45ISFFSKMCTTSVLKCLQMCTRSVLKYVY
Fcatus  not conserved  ENSFCAG00000005654  39VSFFSKISWTVSLQKQEPPKNVF
Mmusculus  all identical  ENSMUSG00000064036  36LSFLSKVSWKLRLQKRELLKNAL
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 747 / 747
position (AA) of stopcodon in wt / mu AA sequence 249 / 249
position of stopcodon in wt / mu cDNA 1041 / 1041
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 295 / 295
chromosome 18
strand -1
last intron/exon boundary 988
theoretical NMD boundary in CDS 643
length of CDS 747
coding sequence (CDS) position 117
cDNA position
(for ins/del: last normal base / first normal base)
411
gDNA position
(for ins/del: last normal base / first normal base)
18570
chromosomal position
(for ins/del: last normal base / first normal base)
48333203
original gDNA sequence snippet CAGGTCTCTTGGAAACTGAGGTTCCAGAAGCGGGAGCCTCT
altered gDNA sequence snippet CAGGTCTCTTGGAAACTGAGCTTCCAGAAGCGGGAGCCTCT
original cDNA sequence snippet AAGGTCTCTTGGAAACTGAGGTTCCAGAAGCGGGAGCCTCT
altered cDNA sequence snippet AAGGTCTCTTGGAAACTGAGCTTCCAGAAGCGGGAGCCTCT
wildtype AA sequence MDQRQRRILG QPLSIPTSQP KQKRTSMISF FSKVSWKLRF QKREPLKNVF FILAERARDP
SAKKRHMAMR NLGTMAYEAP DKVRKYKKIV LDLLVYGLYD PVNLEVIHES MKTLTVVLGK
IQGKGLGSFF IDITLQTRTL LDDENDSLRY SAFVLFGQLA AFAGRKWKKF FTSQVKQTRD
SLLIHLQDRN PQVAKACKTT FQACSPYLKL KEEYSFQSEE DQRNTKLYQQ LSHYHPEILQ
FFYANKIL*
mutated AA sequence MDQRQRRILG QPLSIPTSQP KQKRTSMISF FSKVSWKLSF QKREPLKNVF FILAERARDP
SAKKRHMAMR NLGTMAYEAP DKVRKYKKIV LDLLVYGLYD PVNLEVIHES MKTLTVVLGK
IQGKGLGSFF IDITLQTRTL LDDENDSLRY SAFVLFGQLA AFAGRKWKKF FTSQVKQTRD
SLLIHLQDRN PQVAKACKTT FQACSPYLKL KEEYSFQSEE DQRNTKLYQQ LSHYHPEILQ
FFYANKIL*
speed 1.51 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