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 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      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 1.21 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