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 marginally increased105369wt: 0.9697 / mu: 0.9753 (marginal change - not scored)wt: TGCTGCTGCTCCTCCTCATGTTCATCTGCTCCAGTTCCTGC
mu: TGCTGCTGCTCCTCTTCATGTTCATCTGCTCCAGTTCCTGC		 atgt|TCAT
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 increased105363wt: 0.6474 / mu: 0.6668 (marginal change - not scored)wt: CTCTGCTGCTGCTGCTCCTCCTCATGTTCATCTGCTCCAGT
mu: CTCTGCTGCTGCTGCTCCTCTTCATGTTCATCTGCTCCAGT		 ctcc|TCAT
Acc increased105368wt: 0.27 / mu: 0.40wt: CTGCTGCTGCTCCTCCTCATGTTCATCTGCTCCAGTTCCTG
mu: CTGCTGCTGCTCCTCTTCATGTTCATCTGCTCCAGTTCCTG		 catg|TTCA
Acc marginally increased105367wt: 0.9367 / mu: 0.9533 (marginal change - not scored)wt: GCTGCTGCTGCTCCTCCTCATGTTCATCTGCTCCAGTTCCT
mu: GCTGCTGCTGCTCCTCTTCATGTTCATCTGCTCCAGTTCCT		 tcat|GTTC
Acc marginally increased105366wt: 0.8696 / mu: 0.9119 (marginal change - not scored)wt: TGCTGCTGCTGCTCCTCCTCATGTTCATCTGCTCCAGTTCC
mu: TGCTGCTGCTGCTCCTCTTCATGTTCATCTGCTCCAGTTCC		 ctca|TGTT
Acc marginally increased105371wt: 0.8161 / mu: 0.8216 (marginal change - not scored)wt: CTGCTGCTCCTCCTCATGTTCATCTGCTCCAGTTCCTGCAT
mu: CTGCTGCTCCTCTTCATGTTCATCTGCTCCAGTTCCTGCAT		 gttc|ATCT
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