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: ENST00000352397
Querying Taster for transcript #2: ENST00000407623
Querying Taster for transcript #3: ENST00000407332
Querying Taster for transcript #4: ENST00000402438
Querying Taster for transcript #5: ENST00000361740
Querying Taster for transcript #6: ENST00000396303
MT speed 0 s - this script 4.798574 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
CYB5R3disease_causing_automatic0.999999990948166simple_aae0V106Msingle base exchangers121965009show file
CYB5R3disease_causing_automatic0.999999990948166simple_aae0V83Msingle base exchangers121965009show file
CYB5R3disease_causing_automatic0.999999990948166simple_aae0V83Msingle base exchangers121965009show file
CYB5R3disease_causing_automatic0.999999990948166simple_aae0V83Msingle base exchangers121965009show file
CYB5R3disease_causing_automatic0.999999990948166simple_aae0V83Msingle base exchangers121965009show file
CYB5R3disease_causing_automatic0.999999999078988simple_aae0V139Msingle base exchangers121965009show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999990948166 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM920234)
  • known disease mutation: rs237 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr22:43026905C>TN/A show variant in all transcripts   IGV
HGNC symbol CYB5R3
Ensembl transcript ID ENST00000352397
Genbank transcript ID NM_000398
UniProt peptide P00387
alteration type single base exchange
alteration region CDS
DNA changes c.316G>A
cDNA.569G>A
g.18670G>A
AA changes V106M Score: 21 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 106
frameshift no
known variant Reference ID: rs121965009
databasehomozygous (T/T)heterozygousallele carriers
1000G011
ExAC055

known disease mutation: rs237 (pathogenic for Methemoglobinemia, type I) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM920234)

known disease mutation at this position, please check HGMD for details (HGMD ID CM920234)
known disease mutation at this position, please check HGMD for details (HGMD ID CM920234)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.7571
3.5420.999
(flanking)-0.9840.708
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 18
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      106TPISSDDDKGFVDLVIKVYFKDTH
mutated  all conserved    106TPISSDDDKGFMDLVIKVYFKDT
Ptroglodytes  all identical  ENSPTRG00000014461  106TPVSSDDDKGFVDLVIKVYFKDT
Mmulatta  all identical  ENSMMUG00000010198  106TPVSSDDDKGFVDLVIKVYFKDT
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000018042  83TPVSSDDDKGFVDLVVKVYFKDT
Ggallus  all identical  ENSGALG00000014122  106TPISSDDDKGFVDLVIKVYMKGV
Trubripes  all identical  ENSTRUG00000013823  104TPVSSDDDKGFVDLVVKVYFKDV
Drerio  all identical  ENSDARG00000005891  103TPVSSDDDKGFVDLVVKIYYKNI
Dmelanogaster  all identical  FBgn0036211  120TPISSDEDVGYVDLVVKVYFKDS
Celegans  all identical  T05H4.5  114TPVSSDEDLGFVDLMVKVYFKNT
Xtropicalis  all identical  ENSXETG00000016513  108TPVSSDDNRGYVDLVVKIYFKNI
protein features
start (aa)end (aa)featuredetails 
40152DOMAINFAD-binding FR-type.lost
104111STRANDlost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 906 / 906
position (AA) of stopcodon in wt / mu AA sequence 302 / 302
position of stopcodon in wt / mu cDNA 1159 / 1159
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 254 / 254
chromosome 22
strand -1
last intron/exon boundary 987
theoretical NMD boundary in CDS 683
length of CDS 906
coding sequence (CDS) position 316
cDNA position
(for ins/del: last normal base / first normal base)		 569
gDNA position
(for ins/del: last normal base / first normal base)		 18670
chromosomal position
(for ins/del: last normal base / first normal base)		 43026905
original gDNA sequence snippet GCGATGATGACAAGGGCTTCGTGGACCTGGTCATCAAGGTG
altered gDNA sequence snippet GCGATGATGACAAGGGCTTCATGGACCTGGTCATCAAGGTG
original cDNA sequence snippet GCGATGATGACAAGGGCTTCGTGGACCTGGTCATCAAGGTT
altered cDNA sequence snippet GCGATGATGACAAGGGCTTCATGGACCTGGTCATCAAGGTT
wildtype AA sequence MGAQLSTLGH MVLFPVWFLY SLLMKLFQRS TPAITLESPD IKYPLRLIDR EIISHDTRRF
RFALPSPQHI LGLPVGQHIY LSARIDGNLV VRPYTPISSD DDKGFVDLVI KVYFKDTHPK
FPAGGKMSQY LESMQIGDTI EFRGPSGLLV YQGKGKFAIR PDKKSNPIIR TVKSVGMIAG
GTGITPMLQV IRAIMKDPDD HTVCHLLFAN QTEKDILLRP ELEELRNKHS ARFKLWYTLD
RAPEAWDYGQ GFVNEEMIRD HLPPPEEEPL VLMCGPPPMI QYACLPNLDH VGHPTERCFV
F*
mutated AA sequence MGAQLSTLGH MVLFPVWFLY SLLMKLFQRS TPAITLESPD IKYPLRLIDR EIISHDTRRF
RFALPSPQHI LGLPVGQHIY LSARIDGNLV VRPYTPISSD DDKGFMDLVI KVYFKDTHPK
FPAGGKMSQY LESMQIGDTI EFRGPSGLLV YQGKGKFAIR PDKKSNPIIR TVKSVGMIAG
GTGITPMLQV IRAIMKDPDD HTVCHLLFAN QTEKDILLRP ELEELRNKHS ARFKLWYTLD
RAPEAWDYGQ GFVNEEMIRD HLPPPEEEPL VLMCGPPPMI QYACLPNLDH VGHPTERCFV
F*
speed 0.90 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999990948166 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM920234)
  • known disease mutation: rs237 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr22:43026905C>TN/A show variant in all transcripts   IGV
HGNC symbol CYB5R3
Ensembl transcript ID ENST00000407623
Genbank transcript ID N/A
UniProt peptide P00387
alteration type single base exchange
alteration region CDS
DNA changes c.247G>A
cDNA.632G>A
g.18670G>A
AA changes V83M Score: 21 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 83
frameshift no
known variant Reference ID: rs121965009
databasehomozygous (T/T)heterozygousallele carriers
1000G011
ExAC055

known disease mutation: rs237 (pathogenic for Methemoglobinemia, type I) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM920234)

known disease mutation at this position, please check HGMD for details (HGMD ID CM920234)
known disease mutation at this position, please check HGMD for details (HGMD ID CM920234)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.7571
3.5420.999
(flanking)-0.9840.708
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 18
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      83TPISSDDDKGFVDLVIKVYFKDTH
mutated  all conserved    83TPISSDDDKGFMDLVIKVYFKDT
Ptroglodytes  all identical  ENSPTRG00000014461  106TPVSSDDDKGFVDLVIKVYFKDT
Mmulatta  all identical  ENSMMUG00000010198  106TPVSSDDDKGFVDLVIKVYFKDT
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000018042  83TPVSSDDDKGFVDLVVKVYFKDT
Ggallus  all identical  ENSGALG00000014122  106TPISSDDDKGFVDLVIKVYMKGV
Trubripes  all identical  ENSTRUG00000013823  104TPVSSDDDKGFVDLVVKVYFKDV
Drerio  all identical  ENSDARG00000005891  103TPVSSDDDKGFVDLVVKIYYKNI
Dmelanogaster  all identical  FBgn0036211  120TPISSDEDVGYVDLVVKVYFKDS
Celegans  all identical  T05H4.5  114TPVSSDEDLGFVDLMVKVYFKNT
Xtropicalis  all identical  ENSXETG00000016513  108TPVSSDDNRGYVDLVVKIYFKNI
protein features
start (aa)end (aa)featuredetails 
40152DOMAINFAD-binding FR-type.lost
7885STRANDlost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 837 / 837
position (AA) of stopcodon in wt / mu AA sequence 279 / 279
position of stopcodon in wt / mu cDNA 1222 / 1222
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 386 / 386
chromosome 22
strand -1
last intron/exon boundary 1050
theoretical NMD boundary in CDS 614
length of CDS 837
coding sequence (CDS) position 247
cDNA position
(for ins/del: last normal base / first normal base)		 632
gDNA position
(for ins/del: last normal base / first normal base)		 18670
chromosomal position
(for ins/del: last normal base / first normal base)		 43026905
original gDNA sequence snippet GCGATGATGACAAGGGCTTCGTGGACCTGGTCATCAAGGTG
altered gDNA sequence snippet GCGATGATGACAAGGGCTTCATGGACCTGGTCATCAAGGTG
original cDNA sequence snippet GCGATGATGACAAGGGCTTCGTGGACCTGGTCATCAAGGTT
altered cDNA sequence snippet GCGATGATGACAAGGGCTTCATGGACCTGGTCATCAAGGTT
wildtype AA sequence MKLFQRSTPA ITLESPDIKY PLRLIDREII SHDTRRFRFA LPSPQHILGL PVGQHIYLSA
RIDGNLVVRP YTPISSDDDK GFVDLVIKVY FKDTHPKFPA GGKMSQYLES MQIGDTIEFR
GPSGLLVYQG KGKFAIRPDK KSNPIIRTVK SVGMIAGGTG ITPMLQVIRA IMKDPDDHTV
CHLLFANQTE KDILLRPELE ELRNKHSARF KLWYTLDRAP EAWDYGQGFV NEEMIRDHLP
PPEEEPLVLM CGPPPMIQYA CLPNLDHVGH PTERCFVF*
mutated AA sequence MKLFQRSTPA ITLESPDIKY PLRLIDREII SHDTRRFRFA LPSPQHILGL PVGQHIYLSA
RIDGNLVVRP YTPISSDDDK GFMDLVIKVY FKDTHPKFPA GGKMSQYLES MQIGDTIEFR
GPSGLLVYQG KGKFAIRPDK KSNPIIRTVK SVGMIAGGTG ITPMLQVIRA IMKDPDDHTV
CHLLFANQTE KDILLRPELE ELRNKHSARF KLWYTLDRAP EAWDYGQGFV NEEMIRDHLP
PPEEEPLVLM CGPPPMIQYA CLPNLDHVGH PTERCFVF*
speed 0.92 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999990948166 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM920234)
  • known disease mutation: rs237 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr22:43026905C>TN/A show variant in all transcripts   IGV
HGNC symbol CYB5R3
Ensembl transcript ID ENST00000407332
Genbank transcript ID N/A
UniProt peptide P00387
alteration type single base exchange
alteration region CDS
DNA changes c.247G>A
cDNA.339G>A
g.18670G>A
AA changes V83M Score: 21 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 83
frameshift no
known variant Reference ID: rs121965009
databasehomozygous (T/T)heterozygousallele carriers
1000G011
ExAC055

known disease mutation: rs237 (pathogenic for Methemoglobinemia, type I) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM920234)

known disease mutation at this position, please check HGMD for details (HGMD ID CM920234)
known disease mutation at this position, please check HGMD for details (HGMD ID CM920234)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.7571
3.5420.999
(flanking)-0.9840.708
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 18
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      83TPISSDDDKGFVDLVIKVYFKDTH
mutated  all conserved    83TPISSDDDKGFMDLVIKVYFKDT
Ptroglodytes  all identical  ENSPTRG00000014461  106TPVSSDDDKGFVDLVIKVYFKDT
Mmulatta  all identical  ENSMMUG00000010198  106TPVSSDDDKGFVDLVIKVYFKDT
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000018042  83TPVSSDDDKGFVDLVVKVYFKDT
Ggallus  all identical  ENSGALG00000014122  106TPISSDDDKGFVDLVIKVYMKGV
Trubripes  all identical  ENSTRUG00000013823  104TPVSSDDDKGFVDLVVKVYFKDV
Drerio  all identical  ENSDARG00000005891  103TPVSSDDDKGFVDLVVKIYYKNI
Dmelanogaster  all identical  FBgn0036211  120TPISSDEDVGYVDLVVKVYFKDS
Celegans  all identical  T05H4.5  114TPVSSDEDLGFVDLMVKVYFKNT
Xtropicalis  all identical  ENSXETG00000016513  108TPVSSDDNRGYVDLVVKIYFKNI
protein features
start (aa)end (aa)featuredetails 
40152DOMAINFAD-binding FR-type.lost
7885STRANDlost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 837 / 837
position (AA) of stopcodon in wt / mu AA sequence 279 / 279
position of stopcodon in wt / mu cDNA 929 / 929
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 22
strand -1
last intron/exon boundary 757
theoretical NMD boundary in CDS 614
length of CDS 837
coding sequence (CDS) position 247
cDNA position
(for ins/del: last normal base / first normal base)		 339
gDNA position
(for ins/del: last normal base / first normal base)		 18670
chromosomal position
(for ins/del: last normal base / first normal base)		 43026905
original gDNA sequence snippet GCGATGATGACAAGGGCTTCGTGGACCTGGTCATCAAGGTG
altered gDNA sequence snippet GCGATGATGACAAGGGCTTCATGGACCTGGTCATCAAGGTG
original cDNA sequence snippet GCGATGATGACAAGGGCTTCGTGGACCTGGTCATCAAGGTT
altered cDNA sequence snippet GCGATGATGACAAGGGCTTCATGGACCTGGTCATCAAGGTT
wildtype AA sequence MKLFQRSTPA ITLESPDIKY PLRLIDREII SHDTRRFRFA LPSPQHILGL PVGQHIYLSA
RIDGNLVVRP YTPISSDDDK GFVDLVIKVY FKDTHPKFPA GGKMSQYLES MQIGDTIEFR
GPSGLLVYQG KGKFAIRPDK KSNPIIRTVK SVGMIAGGTG ITPMLQVIRA IMKDPDDHTV
CHLLFANQTE KDILLRPELE ELRNKHSARF KLWYTLDRAP EAWDYGQGFV NEEMIRDHLP
PPEEEPLVLM CGPPPMIQYA CLPNLDHVGH PTERCFVF*
mutated AA sequence MKLFQRSTPA ITLESPDIKY PLRLIDREII SHDTRRFRFA LPSPQHILGL PVGQHIYLSA
RIDGNLVVRP YTPISSDDDK GFMDLVIKVY FKDTHPKFPA GGKMSQYLES MQIGDTIEFR
GPSGLLVYQG KGKFAIRPDK KSNPIIRTVK SVGMIAGGTG ITPMLQVIRA IMKDPDDHTV
CHLLFANQTE KDILLRPELE ELRNKHSARF KLWYTLDRAP EAWDYGQGFV NEEMIRDHLP
PPEEEPLVLM CGPPPMIQYA CLPNLDHVGH PTERCFVF*
speed 0.89 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999990948166 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM920234)
  • known disease mutation: rs237 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr22:43026905C>TN/A show variant in all transcripts   IGV
HGNC symbol CYB5R3
Ensembl transcript ID ENST00000402438
Genbank transcript ID N/A
UniProt peptide P00387
alteration type single base exchange
alteration region CDS
DNA changes c.247G>A
cDNA.431G>A
g.18670G>A
AA changes V83M Score: 21 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 83
frameshift no
known variant Reference ID: rs121965009
databasehomozygous (T/T)heterozygousallele carriers
1000G011
ExAC055

known disease mutation: rs237 (pathogenic for Methemoglobinemia, type I) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM920234)

known disease mutation at this position, please check HGMD for details (HGMD ID CM920234)
known disease mutation at this position, please check HGMD for details (HGMD ID CM920234)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.7571
3.5420.999
(flanking)-0.9840.708
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 18
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      83TPISSDDDKGFVDLVIKVYFKDTH
mutated  all conserved    83TPISSDDDKGFMDLVIKVYFKDT
Ptroglodytes  all identical  ENSPTRG00000014461  106TPVSSDDDKGFVDLVIKVYFKDT
Mmulatta  all identical  ENSMMUG00000010198  106TPVSSDDDKGFVDLVIKVYFKDT
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000018042  83TPVSSDDDKGFVDLVVKVYFKDT
Ggallus  all identical  ENSGALG00000014122  106TPISSDDDKGFVDLVIKVYMKGV
Trubripes  all identical  ENSTRUG00000013823  104TPVSSDDDKGFVDLVVKVYFKDV
Drerio  all identical  ENSDARG00000005891  103TPVSSDDDKGFVDLVVKIYYKNI
Dmelanogaster  all identical  FBgn0036211  120TPISSDEDVGYVDLVVKVYFKDS
Celegans  all identical  T05H4.5  114TPVSSDEDLGFVDLMVKVYFKNT
Xtropicalis  all identical  ENSXETG00000016513  108TPVSSDDNRGYVDLVVKIYFKNI
protein features
start (aa)end (aa)featuredetails 
40152DOMAINFAD-binding FR-type.lost
7885STRANDlost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 837 / 837
position (AA) of stopcodon in wt / mu AA sequence 279 / 279
position of stopcodon in wt / mu cDNA 1021 / 1021
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 185 / 185
chromosome 22
strand -1
last intron/exon boundary 849
theoretical NMD boundary in CDS 614
length of CDS 837
coding sequence (CDS) position 247
cDNA position
(for ins/del: last normal base / first normal base)		 431
gDNA position
(for ins/del: last normal base / first normal base)		 18670
chromosomal position
(for ins/del: last normal base / first normal base)		 43026905
original gDNA sequence snippet GCGATGATGACAAGGGCTTCGTGGACCTGGTCATCAAGGTG
altered gDNA sequence snippet GCGATGATGACAAGGGCTTCATGGACCTGGTCATCAAGGTG
original cDNA sequence snippet GCGATGATGACAAGGGCTTCGTGGACCTGGTCATCAAGGTT
altered cDNA sequence snippet GCGATGATGACAAGGGCTTCATGGACCTGGTCATCAAGGTT
wildtype AA sequence MKLFQRSTPA ITLESPDIKY PLRLIDREII SHDTRRFRFA LPSPQHILGL PVGQHIYLSA
RIDGNLVVRP YTPISSDDDK GFVDLVIKVY FKDTHPKFPA GGKMSQYLES MQIGDTIEFR
GPSGLLVYQG KGKFAIRPDK KSNPIIRTVK SVGMIAGGTG ITPMLQVIRA IMKDPDDHTV
CHLLFANQTE KDILLRPELE ELRNKHSARF KLWYTLDRAP EAWDYGQGFV NEEMIRDHLP
PPEEEPLVLM CGPPPMIQYA CLPNLDHVGH PTERCFVF*
mutated AA sequence MKLFQRSTPA ITLESPDIKY PLRLIDREII SHDTRRFRFA LPSPQHILGL PVGQHIYLSA
RIDGNLVVRP YTPISSDDDK GFMDLVIKVY FKDTHPKFPA GGKMSQYLES MQIGDTIEFR
GPSGLLVYQG KGKFAIRPDK KSNPIIRTVK SVGMIAGGTG ITPMLQVIRA IMKDPDDHTV
CHLLFANQTE KDILLRPELE ELRNKHSARF KLWYTLDRAP EAWDYGQGFV NEEMIRDHLP
PPEEEPLVLM CGPPPMIQYA CLPNLDHVGH PTERCFVF*
speed 0.90 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999990948166 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM920234)
  • known disease mutation: rs237 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr22:43026905C>TN/A show variant in all transcripts   IGV
HGNC symbol CYB5R3
Ensembl transcript ID ENST00000396303
Genbank transcript ID NM_001129819
UniProt peptide P00387
alteration type single base exchange
alteration region CDS
DNA changes c.247G>A
cDNA.399G>A
g.18670G>A
AA changes V83M Score: 21 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 83
frameshift no
known variant Reference ID: rs121965009
databasehomozygous (T/T)heterozygousallele carriers
1000G011
ExAC055

known disease mutation: rs237 (pathogenic for Methemoglobinemia, type I) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM920234)

known disease mutation at this position, please check HGMD for details (HGMD ID CM920234)
known disease mutation at this position, please check HGMD for details (HGMD ID CM920234)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.7571
3.5420.999
(flanking)-0.9840.708
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 18
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      83TPISSDDDKGFVDLVIKVYFKDTH
mutated  all conserved    83TPISSDDDKGFMDLVIKVYFKDT
Ptroglodytes  all identical  ENSPTRG00000014461  106TPVSSDDDKGFVDLVIKVYFKDT
Mmulatta  all identical  ENSMMUG00000010198  106TPVSSDDDKGFVDLVIKVYFKDT
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000018042  83TPVSSDDDKGFVDLVVKVYFKDT
Ggallus  all identical  ENSGALG00000014122  106TPISSDDDKGFVDLVIKVYMKGV
Trubripes  all identical  ENSTRUG00000013823  104TPVSSDDDKGFVDLVVKVYFKDV
Drerio  all identical  ENSDARG00000005891  103TPVSSDDDKGFVDLVVKIYYKNI
Dmelanogaster  all identical  FBgn0036211  120TPISSDEDVGYVDLVVKVYFKDS
Celegans  all identical  T05H4.5  114TPVSSDEDLGFVDLMVKVYFKNT
Xtropicalis  all identical  ENSXETG00000016513  108TPVSSDDNRGYVDLVVKIYFKNI
protein features
start (aa)end (aa)featuredetails 
40152DOMAINFAD-binding FR-type.lost
7885STRANDlost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 837 / 837
position (AA) of stopcodon in wt / mu AA sequence 279 / 279
position of stopcodon in wt / mu cDNA 989 / 989
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 153 / 153
chromosome 22
strand -1
last intron/exon boundary 817
theoretical NMD boundary in CDS 614
length of CDS 837
coding sequence (CDS) position 247
cDNA position
(for ins/del: last normal base / first normal base)		 399
gDNA position
(for ins/del: last normal base / first normal base)		 18670
chromosomal position
(for ins/del: last normal base / first normal base)		 43026905
original gDNA sequence snippet GCGATGATGACAAGGGCTTCGTGGACCTGGTCATCAAGGTG
altered gDNA sequence snippet GCGATGATGACAAGGGCTTCATGGACCTGGTCATCAAGGTG
original cDNA sequence snippet GCGATGATGACAAGGGCTTCGTGGACCTGGTCATCAAGGTT
altered cDNA sequence snippet GCGATGATGACAAGGGCTTCATGGACCTGGTCATCAAGGTT
wildtype AA sequence MKLFQRSTPA ITLESPDIKY PLRLIDREII SHDTRRFRFA LPSPQHILGL PVGQHIYLSA
RIDGNLVVRP YTPISSDDDK GFVDLVIKVY FKDTHPKFPA GGKMSQYLES MQIGDTIEFR
GPSGLLVYQG KGKFAIRPDK KSNPIIRTVK SVGMIAGGTG ITPMLQVIRA IMKDPDDHTV
CHLLFANQTE KDILLRPELE ELRNKHSARF KLWYTLDRAP EAWDYGQGFV NEEMIRDHLP
PPEEEPLVLM CGPPPMIQYA CLPNLDHVGH PTERCFVF*
mutated AA sequence MKLFQRSTPA ITLESPDIKY PLRLIDREII SHDTRRFRFA LPSPQHILGL PVGQHIYLSA
RIDGNLVVRP YTPISSDDDK GFMDLVIKVY FKDTHPKFPA GGKMSQYLES MQIGDTIEFR
GPSGLLVYQG KGKFAIRPDK KSNPIIRTVK SVGMIAGGTG ITPMLQVIRA IMKDPDDHTV
CHLLFANQTE KDILLRPELE ELRNKHSARF KLWYTLDRAP EAWDYGQGFV NEEMIRDHLP
PPEEEPLVLM CGPPPMIQYA CLPNLDHVGH PTERCFVF*
speed 0.89 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

disease causing

 Model: simple_aae, prob: 0.999999999078988 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM920234)
  • known disease mutation: rs237 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr22:43026905C>TN/A show variant in all transcripts   IGV
HGNC symbol CYB5R3
Ensembl transcript ID ENST00000361740
Genbank transcript ID NM_001171660
UniProt peptide P00387
alteration type single base exchange
alteration region CDS
DNA changes c.415G>A
cDNA.415G>A
g.18670G>A
AA changes V139M Score: 21 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 139
frameshift no
known variant Reference ID: rs121965009
databasehomozygous (T/T)heterozygousallele carriers
1000G011
ExAC055

known disease mutation: rs237 (pathogenic for Methemoglobinemia, type I) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM920234)

known disease mutation at this position, please check HGMD for details (HGMD ID CM920234)
known disease mutation at this position, please check HGMD for details (HGMD ID CM920234)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.7571
3.5420.999
(flanking)-0.9840.708
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 18
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      139TPISSDDDKGFVDLVIKVYFKDTH
mutated  all conserved    139TPISSDDDKGFMDLVIKVYFKDT
Ptroglodytes  all identical  ENSPTRG00000014461  106TPVSSDDDKGFVDLVIKVYFKDT
Mmulatta  all identical  ENSMMUG00000010198  106TPVSSDDDKGFVDLVIKVYFKDT
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000018042  83TPVSSDDDKGFVDLVVKVYFKDT
Ggallus  all identical  ENSGALG00000014122  106TPISSDDDKGFVDLVIKVYMKGV
Trubripes  all identical  ENSTRUG00000013823  104TPVSSDDDKGFVDLVVKVYFKDV
Drerio  all identical  ENSDARG00000005891  103TPVSSDDDKGFVDLVVKIYYKNI
Dmelanogaster  all identical  FBgn0036211  120TPISSDEDVGYVDLVVKVYFKDS
Celegans  all identical  T05H4.5  114TPVSSDEDLGFVDLMVKVYFKNT
Xtropicalis  all identical  ENSXETG00000016513  108TPVSSDDNRGYVDLVVKIYFKNI
protein features
start (aa)end (aa)featuredetails 
40152DOMAINFAD-binding FR-type.lost
132147NP_BINDFAD (By similarity).lost
139146STRANDlost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1005 / 1005
position (AA) of stopcodon in wt / mu AA sequence 335 / 335
position of stopcodon in wt / mu cDNA 1005 / 1005
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 22
strand -1
last intron/exon boundary 833
theoretical NMD boundary in CDS 782
length of CDS 1005
coding sequence (CDS) position 415
cDNA position
(for ins/del: last normal base / first normal base)		 415
gDNA position
(for ins/del: last normal base / first normal base)		 18670
chromosomal position
(for ins/del: last normal base / first normal base)		 43026905
original gDNA sequence snippet GCGATGATGACAAGGGCTTCGTGGACCTGGTCATCAAGGTG
altered gDNA sequence snippet GCGATGATGACAAGGGCTTCATGGACCTGGTCATCAAGGTG
original cDNA sequence snippet GCGATGATGACAAGGGCTTCGTGGACCTGGTCATCAAGGTT
altered cDNA sequence snippet GCGATGATGACAAGGGCTTCATGGACCTGGTCATCAAGGTT
wildtype AA sequence MNRSLLVGCM QSKDIWGREE SICERLKQDG LDVERAESWE LGHMVLFPVW FLYSLLMKLF
QRSTPAITLE SPDIKYPLRL IDREIISHDT RRFRFALPSP QHILGLPVGQ HIYLSARIDG
NLVVRPYTPI SSDDDKGFVD LVIKVYFKDT HPKFPAGGKM SQYLESMQIG DTIEFRGPSG
LLVYQGKGKF AIRPDKKSNP IIRTVKSVGM IAGGTGITPM LQVIRAIMKD PDDHTVCHLL
FANQTEKDIL LRPELEELRN KHSARFKLWY TLDRAPEAWD YGQGFVNEEM IRDHLPPPEE
EPLVLMCGPP PMIQYACLPN LDHVGHPTER CFVF*
mutated AA sequence MNRSLLVGCM QSKDIWGREE SICERLKQDG LDVERAESWE LGHMVLFPVW FLYSLLMKLF
QRSTPAITLE SPDIKYPLRL IDREIISHDT RRFRFALPSP QHILGLPVGQ HIYLSARIDG
NLVVRPYTPI SSDDDKGFMD LVIKVYFKDT HPKFPAGGKM SQYLESMQIG DTIEFRGPSG
LLVYQGKGKF AIRPDKKSNP IIRTVKSVGM IAGGTGITPM LQVIRAIMKD PDDHTVCHLL
FANQTEKDIL LRPELEELRN KHSARFKLWY TLDRAPEAWD YGQGFVNEEM IRDHLPPPEE
EPLVLMCGPP PMIQYACLPN LDHVGHPTER CFVF*
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
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Problems