Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999579585 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM120702)
  • known disease mutation: rs30323 (pathogenic)
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:225368508T>CN/A show variant in all transcripts   IGV
HGNC symbol CUL3
Ensembl transcript ID ENST00000409777
Genbank transcript ID N/A
UniProt peptide Q13618
alteration type single base exchange
alteration region CDS
DNA changes c.1166A>G
cDNA.1772A>G
g.81603A>G
AA changes D389G Score: 94 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 389
frameshift no
known variant Reference ID: rs199469656
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs30323 (pathogenic for Pseudohypoaldosteronism type 2A|Pseudohypoaldosteronism type 2E) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM120702)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.3331
5.0351
(flanking)6.0981
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased81602wt: 0.9422 / mu: 0.9975 (marginal change - not scored)wt: TATTGGATAAAGCAA
mu: TATTGGGTAAAGCAA		 TTGG|ataa
distance from splice site 32
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      389GLTEQEVETILDKAMVLFRFMQEK
mutated  not conserved    389GLTEQEVETILGKAMVLFRFMQE
Ptroglodytes  all identical  ENSPTRG00000012986  413GLTEQEVETILDKAMVLFRFMQE
Mmulatta  all identical  ENSMMUG00000022259  413GLTEQEVETILDKAMVLFRFMQE
Fcatus  not conserved  ENSFCAG00000008145  325GXXXXXXXXXXXXXXXXXXXXXX
Mmusculus  all identical  ENSMUSG00000004364  413GLTEQEVETILDKAMVLFRFMQE
Ggallus  all identical  ENSGALG00000005108  391GLTEQEVETILDKAMVLFRFMQE
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000038967  411GLTEQEVESILDKAMVLFRFMQE
Dmelanogaster  all identical  FBgn0261268  574GMSEQEIESILDKTMVLFRFLLE
Celegans  all identical  Y108G3AL.1  419CVSDAEMDNKLDNVMILFRYLQE
Xtropicalis  all identical  ENSXETG00000008183  413GLTEQEVESILDKAMVLFRFMQE
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2235 / 2235
position (AA) of stopcodon in wt / mu AA sequence 745 / 745
position of stopcodon in wt / mu cDNA 2841 / 2841
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 607 / 607
chromosome 2
strand -1
last intron/exon boundary 2710
theoretical NMD boundary in CDS 2053
length of CDS 2235
coding sequence (CDS) position 1166
cDNA position
(for ins/del: last normal base / first normal base)		 1772
gDNA position
(for ins/del: last normal base / first normal base)		 81603
chromosomal position
(for ins/del: last normal base / first normal base)		 225368508
original gDNA sequence snippet AGAAGTAGAAACAATATTGGATAAAGCAATGGTCCTTTTTA
altered gDNA sequence snippet AGAAGTAGAAACAATATTGGGTAAAGCAATGGTCCTTTTTA
original cDNA sequence snippet AGAAGTAGAAACAATATTGGATAAAGCAATGGTCCTTTTTA
altered cDNA sequence snippet AGAAGTAGAAACAATATTGGGTAAAGCAATGGTCCTTTTTA
wildtype AA sequence MDEKYVNSIW DLLKNAIQEI QRKNNSGLSF EELYRNAYTM VLHKHGEKLY TGLREVVTEH
LINKVREDVL NSLNNNFLQT LNQAWNDHQT AMVMIRDILM YMDRVYVQQN NVENVYNLGL
IIFRDQVVRY GCIRDHLRQT LLDMIARERK GEVVDRGAIR NACQMLMILG LEGRSVYEED
FEAPFLEMSA EFFQMESQKF LAENSASVYI KKVEARINEE IERVMHCLDK STEEPIVKVV
ERELISKHMK TIVEMENSGL VHMLKNGKTE DLGCMYKLFS RVPNGLKTMC ECMSSYLREQ
GKALVSEEGE GKNPVDYIQG LLDLKSRFDR FLLESFNNDR LFKQTIAGDF EYFLNLNSRS
PEYLSLFIDD KLKKGVKGLT EQEVETILDK AMVLFRFMQE KDVFERYYKQ HLARRLLTNK
SVSDDSEKNM ISKLKTECGC QFTSKLEGMF RDMSISNTTM DEFRQHLQAT GVSLGGVDLT
VRVLTTGYWP TQSATPKCNI PPAPRHAFEI FRRFYLAKHS GRQLTLQHHM GSADLNATFY
GPVKKEDGSE VGVGGAQVTG SNTRKHILQV STFQMTILML FNNREKYTFE EIQQETDIPE
RELVRALQSL ACGKPTQRVL TKEPKSKEIE NGHIFTVNDQ FTSKLHRVKI QTVAAKQGES
DPERKETRQK VDDDRKHEIE AAIVRIMKSR KKMQHNVLVA EVTQQLKARF LPSPVVIKKR
IEGLIEREYL ARTPEDRKVY TYVA*
mutated AA sequence MDEKYVNSIW DLLKNAIQEI QRKNNSGLSF EELYRNAYTM VLHKHGEKLY TGLREVVTEH
LINKVREDVL NSLNNNFLQT LNQAWNDHQT AMVMIRDILM YMDRVYVQQN NVENVYNLGL
IIFRDQVVRY GCIRDHLRQT LLDMIARERK GEVVDRGAIR NACQMLMILG LEGRSVYEED
FEAPFLEMSA EFFQMESQKF LAENSASVYI KKVEARINEE IERVMHCLDK STEEPIVKVV
ERELISKHMK TIVEMENSGL VHMLKNGKTE DLGCMYKLFS RVPNGLKTMC ECMSSYLREQ
GKALVSEEGE GKNPVDYIQG LLDLKSRFDR FLLESFNNDR LFKQTIAGDF EYFLNLNSRS
PEYLSLFIDD KLKKGVKGLT EQEVETILGK AMVLFRFMQE KDVFERYYKQ HLARRLLTNK
SVSDDSEKNM ISKLKTECGC QFTSKLEGMF RDMSISNTTM DEFRQHLQAT GVSLGGVDLT
VRVLTTGYWP TQSATPKCNI PPAPRHAFEI FRRFYLAKHS GRQLTLQHHM GSADLNATFY
GPVKKEDGSE VGVGGAQVTG SNTRKHILQV STFQMTILML FNNREKYTFE EIQQETDIPE
RELVRALQSL ACGKPTQRVL TKEPKSKEIE NGHIFTVNDQ FTSKLHRVKI QTVAAKQGES
DPERKETRQK VDDDRKHEIE AAIVRIMKSR KKMQHNVLVA EVTQQLKARF LPSPVVIKKR
IEGLIEREYL ARTPEDRKVY TYVA*
speed 1.35 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