Yum, tasty mutations...

MutationTaster - study a chromosomal position

 MTQE documentation
NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 5 transcript(s)...
Querying Taster for transcript #1: ENST00000448182
Querying Taster for transcript #2: ENST00000260364
Querying Taster for transcript #3: ENST00000455873
Querying Taster for transcript #4: ENST00000388866
Querying Taster for transcript #5: ENST00000530406
MT speed 0 s - this script 5.629004 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
NOX5polymorphism_automatic0.988525156905862simple_aaeaffectedL380Fsingle base exchangers12907196show file
NOX5polymorphism_automatic0.994928591813382simple_aaeaffectedL362Fsingle base exchangers12907196show file
NOX5polymorphism_automatic0.994928591813382simple_aaeaffectedL345Fsingle base exchangers12907196show file
NOX5polymorphism_automatic0.994928591813382simple_aaeaffectedL352Fsingle base exchangers12907196show file
NOX5polymorphism_automatic0.997113356439702simple_aaeaffectedL334Fsingle base exchangers12907196show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.0114748430941382 (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) chr15:69328226C>TN/A show variant in all transcripts   IGV
HGNC symbol NOX5
Ensembl transcript ID ENST00000388866
Genbank transcript ID NM_024505
UniProt peptide Q96PH1
alteration type single base exchange
alteration region CDS
DNA changes c.1138C>T
cDNA.1179C>T
g.105363C>T
AA changes L380F Score: 22 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 380
frameshift no
known variant Reference ID: rs12907196
databasehomozygous (T/T)heterozygousallele carriers
1000G2658281093
ExAC12611754520156
regulatory features CTCF, Transcription Factor, CCCTC-binding factor
CTCFL, Transcription Factor, CTCFL Transcription Factor Binding
DNase1, Open Chromatin, DNase1 Hypersensitive Site
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
Max, Transcription Factor, Max TF binding
Rad21, Transcription Factor, Rad21 Transcription Factor Binding
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.1830.509
1.0420.893
(flanking)2.420.996
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased105372wt: 0.44 / mu: 0.63wt: TGCTGCTCCTCCTCATGTTCATCTGCTCCAGTTCCTGCATC
mu: TGCTGCTCCTCTTCATGTTCATCTGCTCCAGTTCCTGCATC		 ttca|TCTG
Acc marginally increased105365wt: 0.8956 / mu: 0.9136 (marginal change - not scored)wt: CTGCTGCTGCTGCTCCTCCTCATGTTCATCTGCTCCAGTTC
mu: CTGCTGCTGCTGCTCCTCTTCATGTTCATCTGCTCCAGTTC		 cctc|ATGT
Acc increased105373wt: 0.68 / mu: 0.78wt: GCTGCTCCTCCTCATGTTCATCTGCTCCAGTTCCTGCATCC
mu: GCTGCTCCTCTTCATGTTCATCTGCTCCAGTTCCTGCATCC		 tcat|CTGC
Acc marginally increased105366wt: 0.8696 / mu: 0.9119 (marginal change - not scored)wt: TGCTGCTGCTGCTCCTCCTCATGTTCATCTGCTCCAGTTCC
mu: TGCTGCTGCTGCTCCTCTTCATGTTCATCTGCTCCAGTTCC		 ctca|TGTT
Acc marginally increased105369wt: 0.9697 / mu: 0.9753 (marginal change - not scored)wt: TGCTGCTGCTCCTCCTCATGTTCATCTGCTCCAGTTCCTGC
mu: TGCTGCTGCTCCTCTTCATGTTCATCTGCTCCAGTTCCTGC		 atgt|TCAT
Acc marginally increased105371wt: 0.8161 / mu: 0.8216 (marginal change - not scored)wt: CTGCTGCTCCTCCTCATGTTCATCTGCTCCAGTTCCTGCAT
mu: CTGCTGCTCCTCTTCATGTTCATCTGCTCCAGTTCCTGCAT		 gttc|ATCT
Acc marginally increased105363wt: 0.6474 / mu: 0.6668 (marginal change - not scored)wt: CTCTGCTGCTGCTGCTCCTCCTCATGTTCATCTGCTCCAGT
mu: CTCTGCTGCTGCTGCTCCTCTTCATGTTCATCTGCTCCAGT		 ctcc|TCAT
Acc marginally increased105367wt: 0.9367 / mu: 0.9533 (marginal change - not scored)wt: GCTGCTGCTGCTCCTCCTCATGTTCATCTGCTCCAGTTCCT
mu: GCTGCTGCTGCTCCTCTTCATGTTCATCTGCTCCAGTTCCT		 tcat|GTTC
Acc increased105368wt: 0.27 / mu: 0.40wt: CTGCTGCTGCTCCTCCTCATGTTCATCTGCTCCAGTTCCTG
mu: CTGCTGCTGCTCCTCTTCATGTTCATCTGCTCCAGTTCCTG		 catg|TTCA
distance from splice site 51
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      380PTGVALLLLLLLMFICSSSCIRRS
mutated  not conserved    380PTGVALLLLLLFMFICSSSCIRR
Ptroglodytes  all identical  ENSPTRG00000007222  379PTGVALLLLLLLMFICSSSCIRR
Mmulatta  all identical  ENSMMUG00000006230  381PTGVALLLLLLLMFICSSSCVRR
Fcatus  all identical  ENSFCAG00000001372  380PTGVALLLLLLLMFVCSSSCIRR
Mmusculus  no homologue    
Ggallus  not conserved  ENSGALG00000008063  380QTGLALQLLLFAMLAFSSPCVRR
Trubripes  all identical  ENSTRUG00000013075  360FMICLMVLCSSTFVRR
Drerio  all identical  ENSDARG00000079773  365QILIGLMVVCSSTFVRR
Dmelanogaster  all conserved  FBgn0085428  669PTGVALLAILVVMFVCSQPFVRR
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000007819  366QLLICLMLLFSNTFVRK
protein features
start (aa)end (aa)featuredetails 
293440DOMAINFerric oxidoreductase.lost
363383TRANSMEMHelical; (Potential).lost
374380COMPBIASPoly-Leu.lost
380380CONFLICTL -> F (in Ref. 2; BAB84884/BAB84897, 3; BAB15319/BAG37241, 6; EAW77830 and 7; AAI25098/AAI25099).lost
384394TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
395417TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
418434TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
435455TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
441577DOMAINFAD-binding FR-type.might get lost (downstream of altered splice site)
449565REGIONC-terminal catalytic region.might get lost (downstream of altered splice site)
456583TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
584604TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
605765TOPO_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 2298 / 2298
position (AA) of stopcodon in wt / mu AA sequence 766 / 766
position of stopcodon in wt / mu cDNA 2339 / 2339
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 42 / 42
chromosome 15
strand 1
last intron/exon boundary 2208
theoretical NMD boundary in CDS 2116
length of CDS 2298
coding sequence (CDS) position 1138
cDNA position
(for ins/del: last normal base / first normal base)		 1179
gDNA position
(for ins/del: last normal base / first normal base)		 105363
chromosomal position
(for ins/del: last normal base / first normal base)		 69328226
original gDNA sequence snippet CTCTGCTGCTGCTGCTCCTCCTCATGTTCATCTGCTCCAGT
altered gDNA sequence snippet CTCTGCTGCTGCTGCTCCTCTTCATGTTCATCTGCTCCAGT
original cDNA sequence snippet CTCTGCTGCTGCTGCTCCTCCTCATGTTCATCTGCTCCAGT
altered cDNA sequence snippet CTCTGCTGCTGCTGCTCCTCTTCATGTTCATCTGCTCCAGT
wildtype AA sequence MNTSGDPAQT GPEGCRGTMS AEEDARWLRW VTQQFKTIAG EDGEISLQEF KAALHVKESF
FAERFFALFD SDRSGTITLQ ELQEALTLLI HGSPMDKLKF LFQVYDIDVC ARQGASAGTE
WGAGAGPHWA SSPLGTGSGS IDPDELRTVL QSCLRESAIS LPDEKLDQLT LALFESADAD
GNGAITFEEL RDELQRFPGV MENLTISAAH WLTAPAPRPR PRRPRQLTRA YWHNHRSQLF
CLATYAGLHV LLFGLAASAH RDLGASVMVA KGCGQCLNFD CSFIAVLMLR RCLTWLRATW
LAQVLPLDQN IQFHQLMGYV VVGLSLVHTV AHTVNFVLQA QAEASPFQFW ELLLTTRPGI
GWVHGSASPT GVALLLLLLL MFICSSSCIR RSGHFEVFYW THLSYLLVWL LLIFHGPNFW
KWLLVPGILF FLEKAIGLAV SRMAAVCIME VNLLPSKVTH LLIKRPPFFH YRPGDYLYLN
IPTIARYEWH PFTISSAPEQ KDTIWLHIRS QGQWTNRLYE SFKASDPLGR GSKRLSRSVT
MRKSQRSSKG SEILLEKHKF CNIKCYIDGP YGTPTRRIFA SEHAVLIGAG IGITPFASIL
QSIMYRHQKR KHTCPSCQHS WIEGVQDNMK LHKVDFIWIN RDQRSFEWFV SLLTKLEMDQ
AEEAQYGRFL ELHMYMTSAL GKNDMKAIGL QMALDLLANK EKKDSITGLQ TRTQPGRPDW
SKVFQKVAAE KKGKVQVFFC GSPALAKVLK GHCEKFGFRF FQENF*
mutated AA sequence MNTSGDPAQT GPEGCRGTMS AEEDARWLRW VTQQFKTIAG EDGEISLQEF KAALHVKESF
FAERFFALFD SDRSGTITLQ ELQEALTLLI HGSPMDKLKF LFQVYDIDVC ARQGASAGTE
WGAGAGPHWA SSPLGTGSGS IDPDELRTVL QSCLRESAIS LPDEKLDQLT LALFESADAD
GNGAITFEEL RDELQRFPGV MENLTISAAH WLTAPAPRPR PRRPRQLTRA YWHNHRSQLF
CLATYAGLHV LLFGLAASAH RDLGASVMVA KGCGQCLNFD CSFIAVLMLR RCLTWLRATW
LAQVLPLDQN IQFHQLMGYV VVGLSLVHTV AHTVNFVLQA QAEASPFQFW ELLLTTRPGI
GWVHGSASPT GVALLLLLLF MFICSSSCIR RSGHFEVFYW THLSYLLVWL LLIFHGPNFW
KWLLVPGILF FLEKAIGLAV SRMAAVCIME VNLLPSKVTH LLIKRPPFFH YRPGDYLYLN
IPTIARYEWH PFTISSAPEQ KDTIWLHIRS QGQWTNRLYE SFKASDPLGR GSKRLSRSVT
MRKSQRSSKG SEILLEKHKF CNIKCYIDGP YGTPTRRIFA SEHAVLIGAG IGITPFASIL
QSIMYRHQKR KHTCPSCQHS WIEGVQDNMK LHKVDFIWIN RDQRSFEWFV SLLTKLEMDQ
AEEAQYGRFL ELHMYMTSAL GKNDMKAIGL QMALDLLANK EKKDSITGLQ TRTQPGRPDW
SKVFQKVAAE KKGKVQVFFC GSPALAKVLK GHCEKFGFRF FQENF*
speed 1.15 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: 0.00507140818661809 (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) chr15:69328226C>TN/A show variant in all transcripts   IGV
HGNC symbol NOX5
Ensembl transcript ID ENST00000260364
Genbank transcript ID N/A
UniProt peptide Q96PH1
alteration type single base exchange
alteration region CDS
DNA changes c.1084C>T
cDNA.1385C>T
g.105363C>T
AA changes L362F Score: 22 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 362
frameshift no
known variant Reference ID: rs12907196
databasehomozygous (T/T)heterozygousallele carriers
1000G2658281093
ExAC12611754520156
regulatory features CTCF, Transcription Factor, CCCTC-binding factor
CTCFL, Transcription Factor, CTCFL Transcription Factor Binding
DNase1, Open Chromatin, DNase1 Hypersensitive Site
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
Max, Transcription Factor, Max TF binding
Rad21, Transcription Factor, Rad21 Transcription Factor Binding
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.1830.509
1.0420.893
(flanking)2.420.996
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased105372wt: 0.44 / mu: 0.63wt: TGCTGCTCCTCCTCATGTTCATCTGCTCCAGTTCCTGCATC
mu: TGCTGCTCCTCTTCATGTTCATCTGCTCCAGTTCCTGCATC		 ttca|TCTG
Acc marginally increased105365wt: 0.8956 / mu: 0.9136 (marginal change - not scored)wt: CTGCTGCTGCTGCTCCTCCTCATGTTCATCTGCTCCAGTTC
mu: CTGCTGCTGCTGCTCCTCTTCATGTTCATCTGCTCCAGTTC		 cctc|ATGT
Acc increased105373wt: 0.68 / mu: 0.78wt: GCTGCTCCTCCTCATGTTCATCTGCTCCAGTTCCTGCATCC
mu: GCTGCTCCTCTTCATGTTCATCTGCTCCAGTTCCTGCATCC		 tcat|CTGC
Acc marginally increased105366wt: 0.8696 / mu: 0.9119 (marginal change - not scored)wt: TGCTGCTGCTGCTCCTCCTCATGTTCATCTGCTCCAGTTCC
mu: TGCTGCTGCTGCTCCTCTTCATGTTCATCTGCTCCAGTTCC		 ctca|TGTT
Acc marginally increased105369wt: 0.9697 / mu: 0.9753 (marginal change - not scored)wt: TGCTGCTGCTCCTCCTCATGTTCATCTGCTCCAGTTCCTGC
mu: TGCTGCTGCTCCTCTTCATGTTCATCTGCTCCAGTTCCTGC		 atgt|TCAT
Acc marginally increased105371wt: 0.8161 / mu: 0.8216 (marginal change - not scored)wt: CTGCTGCTCCTCCTCATGTTCATCTGCTCCAGTTCCTGCAT
mu: CTGCTGCTCCTCTTCATGTTCATCTGCTCCAGTTCCTGCAT		 gttc|ATCT
Acc marginally increased105363wt: 0.6474 / mu: 0.6668 (marginal change - not scored)wt: CTCTGCTGCTGCTGCTCCTCCTCATGTTCATCTGCTCCAGT
mu: CTCTGCTGCTGCTGCTCCTCTTCATGTTCATCTGCTCCAGT		 ctcc|TCAT
Acc marginally increased105367wt: 0.9367 / mu: 0.9533 (marginal change - not scored)wt: GCTGCTGCTGCTCCTCCTCATGTTCATCTGCTCCAGTTCCT
mu: GCTGCTGCTGCTCCTCTTCATGTTCATCTGCTCCAGTTCCT		 tcat|GTTC
Acc increased105368wt: 0.27 / mu: 0.40wt: CTGCTGCTGCTCCTCCTCATGTTCATCTGCTCCAGTTCCTG
mu: CTGCTGCTGCTCCTCTTCATGTTCATCTGCTCCAGTTCCTG		 catg|TTCA
distance from splice site 51
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      362PTGVALLLLLLLMFICSSSCIRRS
mutated  not conserved    362LFMFICSSSCIRR
Ptroglodytes  all identical  ENSPTRG00000007222  379LLMFICSSSCIRR
Mmulatta  all identical  ENSMMUG00000006230  381LLLLLMFICSSSCVRR
Fcatus  all identical  ENSFCAG00000001372  380PTGVALLLLLLLMFVCSSSCIRR
Mmusculus  no homologue    
Ggallus  not conserved  ENSGALG00000008063  380LFAMLAFSSPCVRR
Trubripes  all identical  ENSTRUG00000013075  360FMICLMVLCSSTFVRR
Drerio  all identical  ENSDARG00000079773  365QILIGLMVVCSSTFVRR
Dmelanogaster  all conserved  FBgn0085428  669PTGVALLAILVVMFVCSQPFVRR
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000007819  366LLICLMLLFSNTFVRK
protein features
start (aa)end (aa)featuredetails 
293440DOMAINFerric oxidoreductase.lost
339362TOPO_DOMExtracellular (Potential).lost
363383TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
374380COMPBIASPoly-Leu.might get lost (downstream of altered splice site)
375375CONFLICTL -> P (in Ref. 3; BAG37241).might get lost (downstream of altered splice site)
380380CONFLICTL -> F (in Ref. 2; BAB84884/BAB84897, 3; BAB15319/BAG37241, 6; EAW77830 and 7; AAI25098/AAI25099).might get lost (downstream of altered splice site)
384394TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
395417TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
418434TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
435455TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
441577DOMAINFAD-binding FR-type.might get lost (downstream of altered splice site)
449565REGIONC-terminal catalytic region.might get lost (downstream of altered splice site)
456583TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
584604TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
605765TOPO_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 2244 / 2244
position (AA) of stopcodon in wt / mu AA sequence 748 / 748
position of stopcodon in wt / mu cDNA 2545 / 2545
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 302 / 302
chromosome 15
strand 1
last intron/exon boundary 2414
theoretical NMD boundary in CDS 2062
length of CDS 2244
coding sequence (CDS) position 1084
cDNA position
(for ins/del: last normal base / first normal base)		 1385
gDNA position
(for ins/del: last normal base / first normal base)		 105363
chromosomal position
(for ins/del: last normal base / first normal base)		 69328226
original gDNA sequence snippet CTCTGCTGCTGCTGCTCCTCCTCATGTTCATCTGCTCCAGT
altered gDNA sequence snippet CTCTGCTGCTGCTGCTCCTCTTCATGTTCATCTGCTCCAGT
original cDNA sequence snippet CTCTGCTGCTGCTGCTCCTCCTCATGTTCATCTGCTCCAGT
altered cDNA sequence snippet CTCTGCTGCTGCTGCTCCTCTTCATGTTCATCTGCTCCAGT
wildtype AA sequence MSAEEDARWL RWVTQQFKTI AGEDGEISLQ EFKAALHVKE SFFAERFFAL FDSDRSGTIT
LQELQEALTL LIHGSPMDKL KFLFQVYDID VCARQGASAG TEWGAGAGPH WASSPLGTGS
GSIDPDELRT VLQSCLRESA ISLPDEKLDQ LTLALFESAD ADGNGAITFE ELRDELQRFP
GVMENLTISA AHWLTAPAPR PRPRRPRQLT RAYWHNHRSQ LFCLATYAGL HVLLFGLAAS
AHRDLGASVM VAKGCGQCLN FDCSFIAVLM LRRCLTWLRA TWLAQVLPLD QNIQFHQLMG
YVVVGLSLVH TVAHTVNFVL QAQAEASPFQ FWELLLTTRP GIGWVHGSAS PTGVALLLLL
LLMFICSSSC IRRSGHFEVF YWTHLSYLLV WLLLIFHGPN FWKWLLVPGI LFFLEKAIGL
AVSRMAAVCI MEVNLLPSKV THLLIKRPPF FHYRPGDYLY LNIPTIARYE WHPFTISSAP
EQKDTIWLHI RSQGQWTNRL YESFKASDPL GRGSKRLSRS VTMRKSQRSS KGSEILLEKH
KFCNIKCYID GPYGTPTRRI FASEHAVLIG AGIGITPFAS ILQSIMYRHQ KRKHTCPSCQ
HSWIEGVQDN MKLHKVDFIW INRDQRSFEW FVSLLTKLEM DQAEEAQYGR FLELHMYMTS
ALGKNDMKAI GLQMALDLLA NKEKKDSITG LQTRTQPGRP DWSKVFQKVA AEKKGKVQVF
FCGSPALAKV LKGHCEKFGF RFFQENF*
mutated AA sequence MSAEEDARWL RWVTQQFKTI AGEDGEISLQ EFKAALHVKE SFFAERFFAL FDSDRSGTIT
LQELQEALTL LIHGSPMDKL KFLFQVYDID VCARQGASAG TEWGAGAGPH WASSPLGTGS
GSIDPDELRT VLQSCLRESA ISLPDEKLDQ LTLALFESAD ADGNGAITFE ELRDELQRFP
GVMENLTISA AHWLTAPAPR PRPRRPRQLT RAYWHNHRSQ LFCLATYAGL HVLLFGLAAS
AHRDLGASVM VAKGCGQCLN FDCSFIAVLM LRRCLTWLRA TWLAQVLPLD QNIQFHQLMG
YVVVGLSLVH TVAHTVNFVL QAQAEASPFQ FWELLLTTRP GIGWVHGSAS PTGVALLLLL
LFMFICSSSC IRRSGHFEVF YWTHLSYLLV WLLLIFHGPN FWKWLLVPGI LFFLEKAIGL
AVSRMAAVCI MEVNLLPSKV THLLIKRPPF FHYRPGDYLY LNIPTIARYE WHPFTISSAP
EQKDTIWLHI RSQGQWTNRL YESFKASDPL GRGSKRLSRS VTMRKSQRSS KGSEILLEKH
KFCNIKCYID GPYGTPTRRI FASEHAVLIG AGIGITPFAS ILQSIMYRHQ KRKHTCPSCQ
HSWIEGVQDN MKLHKVDFIW INRDQRSFEW FVSLLTKLEM DQAEEAQYGR FLELHMYMTS
ALGKNDMKAI GLQMALDLLA NKEKKDSITG LQTRTQPGRP DWSKVFQKVA AEKKGKVQVF
FCGSPALAKV LKGHCEKFGF RFFQENF*
speed 1.15 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: 0.00507140818661809 (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) chr15:69328226C>TN/A show variant in all transcripts   IGV
HGNC symbol NOX5
Ensembl transcript ID ENST00000455873
Genbank transcript ID NM_001184780
UniProt peptide Q96PH1
alteration type single base exchange
alteration region CDS
DNA changes c.1033C>T
cDNA.1088C>T
g.105363C>T
AA changes L345F Score: 22 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 345
frameshift no
known variant Reference ID: rs12907196
databasehomozygous (T/T)heterozygousallele carriers
1000G2658281093
ExAC12611754520156
regulatory features CTCF, Transcription Factor, CCCTC-binding factor
CTCFL, Transcription Factor, CTCFL Transcription Factor Binding
DNase1, Open Chromatin, DNase1 Hypersensitive Site
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
Max, Transcription Factor, Max TF binding
Rad21, Transcription Factor, Rad21 Transcription Factor Binding
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.1830.509
1.0420.893
(flanking)2.420.996
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased105372wt: 0.44 / mu: 0.63wt: TGCTGCTCCTCCTCATGTTCATCTGCTCCAGTTCCTGCATC
mu: TGCTGCTCCTCTTCATGTTCATCTGCTCCAGTTCCTGCATC		 ttca|TCTG
Acc marginally increased105365wt: 0.8956 / mu: 0.9136 (marginal change - not scored)wt: CTGCTGCTGCTGCTCCTCCTCATGTTCATCTGCTCCAGTTC
mu: CTGCTGCTGCTGCTCCTCTTCATGTTCATCTGCTCCAGTTC		 cctc|ATGT
Acc increased105373wt: 0.68 / mu: 0.78wt: GCTGCTCCTCCTCATGTTCATCTGCTCCAGTTCCTGCATCC
mu: GCTGCTCCTCTTCATGTTCATCTGCTCCAGTTCCTGCATCC		 tcat|CTGC
Acc marginally increased105366wt: 0.8696 / mu: 0.9119 (marginal change - not scored)wt: TGCTGCTGCTGCTCCTCCTCATGTTCATCTGCTCCAGTTCC
mu: TGCTGCTGCTGCTCCTCTTCATGTTCATCTGCTCCAGTTCC		 ctca|TGTT
Acc marginally increased105369wt: 0.9697 / mu: 0.9753 (marginal change - not scored)wt: TGCTGCTGCTCCTCCTCATGTTCATCTGCTCCAGTTCCTGC
mu: TGCTGCTGCTCCTCTTCATGTTCATCTGCTCCAGTTCCTGC		 atgt|TCAT
Acc marginally increased105371wt: 0.8161 / mu: 0.8216 (marginal change - not scored)wt: CTGCTGCTCCTCCTCATGTTCATCTGCTCCAGTTCCTGCAT
mu: CTGCTGCTCCTCTTCATGTTCATCTGCTCCAGTTCCTGCAT		 gttc|ATCT
Acc marginally increased105363wt: 0.6474 / mu: 0.6668 (marginal change - not scored)wt: CTCTGCTGCTGCTGCTCCTCCTCATGTTCATCTGCTCCAGT
mu: CTCTGCTGCTGCTGCTCCTCTTCATGTTCATCTGCTCCAGT		 ctcc|TCAT
Acc marginally increased105367wt: 0.9367 / mu: 0.9533 (marginal change - not scored)wt: GCTGCTGCTGCTCCTCCTCATGTTCATCTGCTCCAGTTCCT
mu: GCTGCTGCTGCTCCTCTTCATGTTCATCTGCTCCAGTTCCT		 tcat|GTTC
Acc increased105368wt: 0.27 / mu: 0.40wt: CTGCTGCTGCTCCTCCTCATGTTCATCTGCTCCAGTTCCTG
mu: CTGCTGCTGCTCCTCTTCATGTTCATCTGCTCCAGTTCCTG		 catg|TTCA
distance from splice site 51
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      345PTGVALLLLLLLMFICSSSCIRRS
mutated  not conserved    345PTGVALLLLLLFMFICSSSCIRR
Ptroglodytes  all identical  ENSPTRG00000007222  379LLLLLLMFICSSSCIRR
Mmulatta  all identical  ENSMMUG00000006230  381VALLLLLLLMFICSSSCVRR
Fcatus  all identical  ENSFCAG00000001372  380PTGVALLLLLLLMFVCSSSCIRR
Mmusculus  no homologue    
Ggallus  not conserved  ENSGALG00000008063  380LLFAMLAFSSPCVRR
Trubripes  all identical  ENSTRUG00000013075  359VTGVVLQFMICLMVLCSSTFVRR
Drerio  all identical  ENSDARG00000079773  365QILIGLMVVCSSTFVRR
Dmelanogaster  all conserved  FBgn0085428  668PTGVALLAILVVMFVCSQPFVRR
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000007819  366QLLICLMLLFSNTFVRK
protein features
start (aa)end (aa)featuredetails 
293440DOMAINFerric oxidoreductase.lost
339362TOPO_DOMExtracellular (Potential).lost
363383TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
374380COMPBIASPoly-Leu.might get lost (downstream of altered splice site)
375375CONFLICTL -> P (in Ref. 3; BAG37241).might get lost (downstream of altered splice site)
380380CONFLICTL -> F (in Ref. 2; BAB84884/BAB84897, 3; BAB15319/BAG37241, 6; EAW77830 and 7; AAI25098/AAI25099).might get lost (downstream of altered splice site)
384394TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
395417TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
418434TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
435455TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
441577DOMAINFAD-binding FR-type.might get lost (downstream of altered splice site)
449565REGIONC-terminal catalytic region.might get lost (downstream of altered splice site)
456583TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
584604TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
605765TOPO_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 2193 / 2193
position (AA) of stopcodon in wt / mu AA sequence 731 / 731
position of stopcodon in wt / mu cDNA 2248 / 2248
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 56 / 56
chromosome 15
strand 1
last intron/exon boundary 2117
theoretical NMD boundary in CDS 2011
length of CDS 2193
coding sequence (CDS) position 1033
cDNA position
(for ins/del: last normal base / first normal base)		 1088
gDNA position
(for ins/del: last normal base / first normal base)		 105363
chromosomal position
(for ins/del: last normal base / first normal base)		 69328226
original gDNA sequence snippet CTCTGCTGCTGCTGCTCCTCCTCATGTTCATCTGCTCCAGT
altered gDNA sequence snippet CTCTGCTGCTGCTGCTCCTCTTCATGTTCATCTGCTCCAGT
original cDNA sequence snippet CTCTGCTGCTGCTGCTCCTCCTCATGTTCATCTGCTCCAGT
altered cDNA sequence snippet CTCTGCTGCTGCTGCTCCTCTTCATGTTCATCTGCTCCAGT
wildtype AA sequence MAFVCAGLSD TMSAEEDARW LRWVTQQFKT IAGEDGEISL QEFKAALHVK ESFFAERFFA
LFDSDRSGTI TLQELQEALT LLIHGSPMDK LKFLFQVYDI DGSGSIDPDE LRTVLQSCLR
ESAISLPDEK LDQLTLALFE SADADGNGAI TFEELRDELQ RFPGVMENLT ISAAHWLTAP
APRPRPRRPR QLTRAYWHNH RSQLFCLATY AGLHVLLFGL AASAHRDLGA SVMVAKGCGQ
CLNFDCSFIA VLMLRRCLTW LRATWLAQVL PLDQNIQFHQ LMGYVVVGLS LVHTVAHTVN
FVLQAQAEAS PFQFWELLLT TRPGIGWVHG SASPTGVALL LLLLLMFICS SSCIRRSGHF
EVFYWTHLSY LLVWLLLIFH GPNFWKWLLV PGILFFLEKA IGLAVSRMAA VCIMEVNLLP
SKVTHLLIKR PPFFHYRPGD YLYLNIPTIA RYEWHPFTIS SAPEQKDTIW LHIRSQGQWT
NRLYESFKAS DPLGRGSKRL SRSVTMRKSQ RSSKGSEILL EKHKFCNIKC YIDGPYGTPT
RRIFASEHAV LIGAGIGITP FASILQSIMY RHQKRKHTCP SCQHSWIEGV QDNMKLHKVD
FIWINRDQRS FEWFVSLLTK LEMDQAEEAQ YGRFLELHMY MTSALGKNDM KAIGLQMALD
LLANKEKKDS ITGLQTRTQP GRPDWSKVFQ KVAAEKKGKV QVFFCGSPAL AKVLKGHCEK
FGFRFFQENF *
mutated AA sequence MAFVCAGLSD TMSAEEDARW LRWVTQQFKT IAGEDGEISL QEFKAALHVK ESFFAERFFA
LFDSDRSGTI TLQELQEALT LLIHGSPMDK LKFLFQVYDI DGSGSIDPDE LRTVLQSCLR
ESAISLPDEK LDQLTLALFE SADADGNGAI TFEELRDELQ RFPGVMENLT ISAAHWLTAP
APRPRPRRPR QLTRAYWHNH RSQLFCLATY AGLHVLLFGL AASAHRDLGA SVMVAKGCGQ
CLNFDCSFIA VLMLRRCLTW LRATWLAQVL PLDQNIQFHQ LMGYVVVGLS LVHTVAHTVN
FVLQAQAEAS PFQFWELLLT TRPGIGWVHG SASPTGVALL LLLLFMFICS SSCIRRSGHF
EVFYWTHLSY LLVWLLLIFH GPNFWKWLLV PGILFFLEKA IGLAVSRMAA VCIMEVNLLP
SKVTHLLIKR PPFFHYRPGD YLYLNIPTIA RYEWHPFTIS SAPEQKDTIW LHIRSQGQWT
NRLYESFKAS DPLGRGSKRL SRSVTMRKSQ RSSKGSEILL EKHKFCNIKC YIDGPYGTPT
RRIFASEHAV LIGAGIGITP FASILQSIMY RHQKRKHTCP SCQHSWIEGV QDNMKLHKVD
FIWINRDQRS FEWFVSLLTK LEMDQAEEAQ YGRFLELHMY MTSALGKNDM KAIGLQMALD
LLANKEKKDS ITGLQTRTQP GRPDWSKVFQ KVAAEKKGKV QVFFCGSPAL AKVLKGHCEK
FGFRFFQENF *
speed 1.24 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: 0.00507140818661809 (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) chr15:69328226C>TN/A show variant in all transcripts   IGV
HGNC symbol NOX5
Ensembl transcript ID ENST00000530406
Genbank transcript ID NM_001184779
UniProt peptide Q96PH1
alteration type single base exchange
alteration region CDS
DNA changes c.1054C>T
cDNA.1092C>T
g.105363C>T
AA changes L352F Score: 22 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 352
frameshift no
known variant Reference ID: rs12907196
databasehomozygous (T/T)heterozygousallele carriers
1000G2658281093
ExAC12611754520156
regulatory features CTCF, Transcription Factor, CCCTC-binding factor
CTCFL, Transcription Factor, CTCFL Transcription Factor Binding
DNase1, Open Chromatin, DNase1 Hypersensitive Site
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
Max, Transcription Factor, Max TF binding
Rad21, Transcription Factor, Rad21 Transcription Factor Binding
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.1830.509
1.0420.893
(flanking)2.420.996
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased105372wt: 0.44 / mu: 0.63wt: TGCTGCTCCTCCTCATGTTCATCTGCTCCAGTTCCTGCATC
mu: TGCTGCTCCTCTTCATGTTCATCTGCTCCAGTTCCTGCATC		 ttca|TCTG
Acc marginally increased105365wt: 0.8956 / mu: 0.9136 (marginal change - not scored)wt: CTGCTGCTGCTGCTCCTCCTCATGTTCATCTGCTCCAGTTC
mu: CTGCTGCTGCTGCTCCTCTTCATGTTCATCTGCTCCAGTTC		 cctc|ATGT
Acc increased105373wt: 0.68 / mu: 0.78wt: GCTGCTCCTCCTCATGTTCATCTGCTCCAGTTCCTGCATCC
mu: GCTGCTCCTCTTCATGTTCATCTGCTCCAGTTCCTGCATCC		 tcat|CTGC
Acc marginally increased105366wt: 0.8696 / mu: 0.9119 (marginal change - not scored)wt: TGCTGCTGCTGCTCCTCCTCATGTTCATCTGCTCCAGTTCC
mu: TGCTGCTGCTGCTCCTCTTCATGTTCATCTGCTCCAGTTCC		 ctca|TGTT
Acc marginally increased105369wt: 0.9697 / mu: 0.9753 (marginal change - not scored)wt: TGCTGCTGCTCCTCCTCATGTTCATCTGCTCCAGTTCCTGC
mu: TGCTGCTGCTCCTCTTCATGTTCATCTGCTCCAGTTCCTGC		 atgt|TCAT
Acc marginally increased105371wt: 0.8161 / mu: 0.8216 (marginal change - not scored)wt: CTGCTGCTCCTCCTCATGTTCATCTGCTCCAGTTCCTGCAT
mu: CTGCTGCTCCTCTTCATGTTCATCTGCTCCAGTTCCTGCAT		 gttc|ATCT
Acc marginally increased105363wt: 0.6474 / mu: 0.6668 (marginal change - not scored)wt: CTCTGCTGCTGCTGCTCCTCCTCATGTTCATCTGCTCCAGT
mu: CTCTGCTGCTGCTGCTCCTCTTCATGTTCATCTGCTCCAGT		 ctcc|TCAT
Acc marginally increased105367wt: 0.9367 / mu: 0.9533 (marginal change - not scored)wt: GCTGCTGCTGCTCCTCCTCATGTTCATCTGCTCCAGTTCCT
mu: GCTGCTGCTGCTCCTCTTCATGTTCATCTGCTCCAGTTCCT		 tcat|GTTC
Acc increased105368wt: 0.27 / mu: 0.40wt: CTGCTGCTGCTCCTCCTCATGTTCATCTGCTCCAGTTCCTG
mu: CTGCTGCTGCTCCTCTTCATGTTCATCTGCTCCAGTTCCTG		 catg|TTCA
distance from splice site 51
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      352PTGVALLLLLLLMFICSSSCIRRS
mutated  not conserved    352PTGVALLLLLLFMFICSSSC
Ptroglodytes  all identical  ENSPTRG00000007222  379PTGVALLLLLLLMFICSSSCIRR
Mmulatta  all identical  ENSMMUG00000006230  381PTGVALLLLLLLMFICSSSCVRR
Fcatus  all identical  ENSFCAG00000001372  380PTGVALLLLLLLMFVCSSSCIRR
Mmusculus  no homologue    
Ggallus  not conserved  ENSGALG00000008063  380QTGLALQLLLFAMLAFSSPCVRR
Trubripes  all identical  ENSTRUG00000013075  359VTGVVLQFMICLMVLCSSTFVRR
Drerio  all identical  ENSDARG00000079773  365QILIGLMVVCSSTFVRR
Dmelanogaster  all conserved  FBgn0085428  668PTGVALLAILVVMFVCSQPFVRR
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000007819  366QLLICLMLLFSNTFVRK
protein features
start (aa)end (aa)featuredetails 
293440DOMAINFerric oxidoreductase.lost
339362TOPO_DOMExtracellular (Potential).lost
363383TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
374380COMPBIASPoly-Leu.might get lost (downstream of altered splice site)
375375CONFLICTL -> P (in Ref. 3; BAG37241).might get lost (downstream of altered splice site)
380380CONFLICTL -> F (in Ref. 2; BAB84884/BAB84897, 3; BAB15319/BAG37241, 6; EAW77830 and 7; AAI25098/AAI25099).might get lost (downstream of altered splice site)
384394TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
395417TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
418434TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
435455TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
441577DOMAINFAD-binding FR-type.might get lost (downstream of altered splice site)
449565REGIONC-terminal catalytic region.might get lost (downstream of altered splice site)
456583TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
584604TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
605765TOPO_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 2214 / 2214
position (AA) of stopcodon in wt / mu AA sequence 738 / 738
position of stopcodon in wt / mu cDNA 2252 / 2252
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 39 / 39
chromosome 15
strand 1
last intron/exon boundary 2121
theoretical NMD boundary in CDS 2032
length of CDS 2214
coding sequence (CDS) position 1054
cDNA position
(for ins/del: last normal base / first normal base)		 1092
gDNA position
(for ins/del: last normal base / first normal base)		 105363
chromosomal position
(for ins/del: last normal base / first normal base)		 69328226
original gDNA sequence snippet CTCTGCTGCTGCTGCTCCTCCTCATGTTCATCTGCTCCAGT
altered gDNA sequence snippet CTCTGCTGCTGCTGCTCCTCTTCATGTTCATCTGCTCCAGT
original cDNA sequence snippet CTCTGCTGCTGCTGCTCCTCCTCATGTTCATCTGCTCCAGT
altered cDNA sequence snippet CTCTGCTGCTGCTGCTCCTCTTCATGTTCATCTGCTCCAGT
wildtype AA sequence MNTSGDPAQT GPEGCRGTMS AEEDARWLRW VTQQFKTIAG EDGEISLQEF KAALHVKESF
FAERFFALFD SDRSGTITLQ ELQEALTLLI HGSPMDKLKF LFQVYDIDGS GSIDPDELRT
VLQSCLRESA ISLPDEKLDQ LTLALFESAD ADGNGAITFE ELRDELQRFP GVMENLTISA
AHWLTAPAPR PRPRRPRQLT RAYWHNHRSQ LFCLATYAGL HVLLFGLAAS AHRDLGASVM
VAKGCGQCLN FDCSFIAVLM LRRCLTWLRA TWLAQVLPLD QNIQFHQLMG YVVVGLSLVH
TVAHTVNFVL QAQAEASPFQ FWELLLTTRP GIGWVHGSAS PTGVALLLLL LLMFICSSSC
IRRSGHFEVF YWTHLSYLLV WLLLIFHGPN FWKWLLVPGI LFFLEKAIGL AVSRMAAVCI
MEVNLLPSKV THLLIKRPPF FHYRPGDYLY LNIPTIARYE WHPFTISSAP EQKDTIWLHI
RSQGQWTNRL YESFKASDPL GRGSKRLSRS VTMRKSQRSS KGSEILLEKH KFCNIKCYID
GPYGTPTRRI FASEHAVLIG AGIGITPFAS ILQSIMYRHQ KRKHTCPSCQ HSWIEGVQDN
MKLHKVDFIW INRDQRSFEW FVSLLTKLEM DQAEEAQYGR FLELHMYMTS ALGKNDMKAI
GLQMALDLLA NKEKKDSITG LQTRTQPGRP DWSKVFQKVA AEKKGKVQVF FCGSPALAKV
LKGHCEKFGF RFFQENF*
mutated AA sequence MNTSGDPAQT GPEGCRGTMS AEEDARWLRW VTQQFKTIAG EDGEISLQEF KAALHVKESF
FAERFFALFD SDRSGTITLQ ELQEALTLLI HGSPMDKLKF LFQVYDIDGS GSIDPDELRT
VLQSCLRESA ISLPDEKLDQ LTLALFESAD ADGNGAITFE ELRDELQRFP GVMENLTISA
AHWLTAPAPR PRPRRPRQLT RAYWHNHRSQ LFCLATYAGL HVLLFGLAAS AHRDLGASVM
VAKGCGQCLN FDCSFIAVLM LRRCLTWLRA TWLAQVLPLD QNIQFHQLMG YVVVGLSLVH
TVAHTVNFVL QAQAEASPFQ FWELLLTTRP GIGWVHGSAS PTGVALLLLL LFMFICSSSC
IRRSGHFEVF YWTHLSYLLV WLLLIFHGPN FWKWLLVPGI LFFLEKAIGL AVSRMAAVCI
MEVNLLPSKV THLLIKRPPF FHYRPGDYLY LNIPTIARYE WHPFTISSAP EQKDTIWLHI
RSQGQWTNRL YESFKASDPL GRGSKRLSRS VTMRKSQRSS KGSEILLEKH KFCNIKCYID
GPYGTPTRRI FASEHAVLIG AGIGITPFAS ILQSIMYRHQ KRKHTCPSCQ HSWIEGVQDN
MKLHKVDFIW INRDQRSFEW FVSLLTKLEM DQAEEAQYGR FLELHMYMTS ALGKNDMKAI
GLQMALDLLA NKEKKDSITG LQTRTQPGRP DWSKVFQKVA AEKKGKVQVF FCGSPALAKV
LKGHCEKFGF RFFQENF*
speed 1.14 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: 0.00288664356029766 (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) chr15:69328226C>TN/A show variant in all transcripts   IGV
HGNC symbol NOX5
Ensembl transcript ID ENST00000448182
Genbank transcript ID N/A
UniProt peptide Q96PH1
alteration type single base exchange
alteration region CDS
DNA changes c.1000C>T
cDNA.1301C>T
g.105363C>T
AA changes L334F Score: 22 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 334
frameshift no
known variant Reference ID: rs12907196
databasehomozygous (T/T)heterozygousallele carriers
1000G2658281093
ExAC12611754520156
regulatory features CTCF, Transcription Factor, CCCTC-binding factor
CTCFL, Transcription Factor, CTCFL Transcription Factor Binding
DNase1, Open Chromatin, DNase1 Hypersensitive Site
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
Max, Transcription Factor, Max TF binding
Rad21, Transcription Factor, Rad21 Transcription Factor Binding
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.1830.509
1.0420.893
(flanking)2.420.996
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased105372wt: 0.44 / mu: 0.63wt: TGCTGCTCCTCCTCATGTTCATCTGCTCCAGTTCCTGCATC
mu: TGCTGCTCCTCTTCATGTTCATCTGCTCCAGTTCCTGCATC		 ttca|TCTG
Acc marginally increased105365wt: 0.8956 / mu: 0.9136 (marginal change - not scored)wt: CTGCTGCTGCTGCTCCTCCTCATGTTCATCTGCTCCAGTTC
mu: CTGCTGCTGCTGCTCCTCTTCATGTTCATCTGCTCCAGTTC		 cctc|ATGT
Acc increased105373wt: 0.68 / mu: 0.78wt: GCTGCTCCTCCTCATGTTCATCTGCTCCAGTTCCTGCATCC
mu: GCTGCTCCTCTTCATGTTCATCTGCTCCAGTTCCTGCATCC		 tcat|CTGC
Acc marginally increased105366wt: 0.8696 / mu: 0.9119 (marginal change - not scored)wt: TGCTGCTGCTGCTCCTCCTCATGTTCATCTGCTCCAGTTCC
mu: TGCTGCTGCTGCTCCTCTTCATGTTCATCTGCTCCAGTTCC		 ctca|TGTT
Acc marginally increased105369wt: 0.9697 / mu: 0.9753 (marginal change - not scored)wt: TGCTGCTGCTCCTCCTCATGTTCATCTGCTCCAGTTCCTGC
mu: TGCTGCTGCTCCTCTTCATGTTCATCTGCTCCAGTTCCTGC		 atgt|TCAT
Acc marginally increased105371wt: 0.8161 / mu: 0.8216 (marginal change - not scored)wt: CTGCTGCTCCTCCTCATGTTCATCTGCTCCAGTTCCTGCAT
mu: CTGCTGCTCCTCTTCATGTTCATCTGCTCCAGTTCCTGCAT		 gttc|ATCT
Acc marginally increased105363wt: 0.6474 / mu: 0.6668 (marginal change - not scored)wt: CTCTGCTGCTGCTGCTCCTCCTCATGTTCATCTGCTCCAGT
mu: CTCTGCTGCTGCTGCTCCTCTTCATGTTCATCTGCTCCAGT		 ctcc|TCAT
Acc marginally increased105367wt: 0.9367 / mu: 0.9533 (marginal change - not scored)wt: GCTGCTGCTGCTCCTCCTCATGTTCATCTGCTCCAGTTCCT
mu: GCTGCTGCTGCTCCTCTTCATGTTCATCTGCTCCAGTTCCT		 tcat|GTTC
Acc increased105368wt: 0.27 / mu: 0.40wt: CTGCTGCTGCTCCTCCTCATGTTCATCTGCTCCAGTTCCTG
mu: CTGCTGCTGCTCCTCTTCATGTTCATCTGCTCCAGTTCCTG		 catg|TTCA
distance from splice site 51
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      334PTGVALLLLLLLMFICSSSCIRRS
mutated  not conserved    334PTGVALLLLLLFMFICSSSCIRR
Ptroglodytes  all identical  ENSPTRG00000007222  379LMFICSSSCIRR
Mmulatta  all identical  ENSMMUG00000006230  381LLLLMFICSSSCVRR
Fcatus  all identical  ENSFCAG00000001372  380PTGVALLLLLLLMFVCSSSCIRR
Mmusculus  no homologue    
Ggallus  not conserved  ENSGALG00000008063  380LFAMLAFSSPCVRR
Trubripes  all identical  ENSTRUG00000013075  359VTGVVLQFMICLMVLCSSTFVRR
Drerio  all identical  ENSDARG00000079773  365QILIGLMVVCSSTFVRR
Dmelanogaster  all conserved  FBgn0085428  668PTGVALLAILVVMFVCSQPFVRR
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000007819  366LLICLMLLFSNTFVRK
protein features
start (aa)end (aa)featuredetails 
293440DOMAINFerric oxidoreductase.lost
318338TRANSMEMHelical; (Potential).lost
339362TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
363383TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
374380COMPBIASPoly-Leu.might get lost (downstream of altered splice site)
375375CONFLICTL -> P (in Ref. 3; BAG37241).might get lost (downstream of altered splice site)
380380CONFLICTL -> F (in Ref. 2; BAB84884/BAB84897, 3; BAB15319/BAG37241, 6; EAW77830 and 7; AAI25098/AAI25099).might get lost (downstream of altered splice site)
384394TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
395417TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
418434TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
435455TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
441577DOMAINFAD-binding FR-type.might get lost (downstream of altered splice site)
449565REGIONC-terminal catalytic region.might get lost (downstream of altered splice site)
456583TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
584604TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
605765TOPO_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 2160 / 2160
position (AA) of stopcodon in wt / mu AA sequence 720 / 720
position of stopcodon in wt / mu cDNA 2461 / 2461
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 302 / 302
chromosome 15
strand 1
last intron/exon boundary 2330
theoretical NMD boundary in CDS 1978
length of CDS 2160
coding sequence (CDS) position 1000
cDNA position
(for ins/del: last normal base / first normal base)		 1301
gDNA position
(for ins/del: last normal base / first normal base)		 105363
chromosomal position
(for ins/del: last normal base / first normal base)		 69328226
original gDNA sequence snippet CTCTGCTGCTGCTGCTCCTCCTCATGTTCATCTGCTCCAGT
altered gDNA sequence snippet CTCTGCTGCTGCTGCTCCTCTTCATGTTCATCTGCTCCAGT
original cDNA sequence snippet CTCTGCTGCTGCTGCTCCTCCTCATGTTCATCTGCTCCAGT
altered cDNA sequence snippet CTCTGCTGCTGCTGCTCCTCTTCATGTTCATCTGCTCCAGT
wildtype AA sequence MSAEEDARWL RWVTQQFKTI AGEDGEISLQ EFKAALHVKE SFFAERFFAL FDSDRSGTIT
LQELQEALTL LIHGSPMDKL KFLFQVYDID GSGSIDPDEL RTVLQSCLRE SAISLPDEKL
DQLTLALFES ADADGNGAIT FEELRDELQR FPGVMENLTI SAAHWLTAPA PRPRPRRPRQ
LTRAYWHNHR SQLFCLATYA GLHVLLFGLA ASAHRDLGAS VMVAKGCGQC LNFDCSFIAV
LMLRRCLTWL RATWLAQVLP LDQNIQFHQL MGYVVVGLSL VHTVAHTVNF VLQAQAEASP
FQFWELLLTT RPGIGWVHGS ASPTGVALLL LLLLMFICSS SCIRRSGHFE VFYWTHLSYL
LVWLLLIFHG PNFWKWLLVP GILFFLEKAI GLAVSRMAAV CIMEVNLLPS KVTHLLIKRP
PFFHYRPGDY LYLNIPTIAR YEWHPFTISS APEQKDTIWL HIRSQGQWTN RLYESFKASD
PLGRGSKRLS RSVTMRKSQR SSKGSEILLE KHKFCNIKCY IDGPYGTPTR RIFASEHAVL
IGAGIGITPF ASILQSIMYR HQKRKHTCPS CQHSWIEGVQ DNMKLHKVDF IWINRDQRSF
EWFVSLLTKL EMDQAEEAQY GRFLELHMYM TSALGKNDMK AIGLQMALDL LANKEKKDSI
TGLQTRTQPG RPDWSKVFQK VAAEKKGKVQ VFFCGSPALA KVLKGHCEKF GFRFFQENF*
mutated AA sequence MSAEEDARWL RWVTQQFKTI AGEDGEISLQ EFKAALHVKE SFFAERFFAL FDSDRSGTIT
LQELQEALTL LIHGSPMDKL KFLFQVYDID GSGSIDPDEL RTVLQSCLRE SAISLPDEKL
DQLTLALFES ADADGNGAIT FEELRDELQR FPGVMENLTI SAAHWLTAPA PRPRPRRPRQ
LTRAYWHNHR SQLFCLATYA GLHVLLFGLA ASAHRDLGAS VMVAKGCGQC LNFDCSFIAV
LMLRRCLTWL RATWLAQVLP LDQNIQFHQL MGYVVVGLSL VHTVAHTVNF VLQAQAEASP
FQFWELLLTT RPGIGWVHGS ASPTGVALLL LLLFMFICSS SCIRRSGHFE VFYWTHLSYL
LVWLLLIFHG PNFWKWLLVP GILFFLEKAI GLAVSRMAAV CIMEVNLLPS KVTHLLIKRP
PFFHYRPGDY LYLNIPTIAR YEWHPFTISS APEQKDTIWL HIRSQGQWTN RLYESFKASD
PLGRGSKRLS RSVTMRKSQR SSKGSEILLE KHKFCNIKCY IDGPYGTPTR RIFASEHAVL
IGAGIGITPF ASILQSIMYR HQKRKHTCPS CQHSWIEGVQ DNMKLHKVDF IWINRDQRSF
EWFVSLLTKL EMDQAEEAQY GRFLELHMYM TSALGKNDMK AIGLQMALDL LANKEKKDSI
TGLQTRTQPG RPDWSKVFQK VAAEKKGKVQ VFFCGSPALA KVLKGHCEKF GFRFFQENF*
speed 1.13 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