Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999931017 (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)
  • protein features (might be) affected
 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 ENST00000344951
Genbank transcript ID NM_001257197
UniProt peptide Q13618
alteration type single base exchange
alteration region CDS
DNA changes c.1040A>G
cDNA.1424A>G
g.81603A>G
AA changes D347G Score: 94 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 347
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      347GLTEQEVETILDKAMVLFRFMQEK
mutated  not conserved    347GLTEQEVETILGKAMVLFRFMQE
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
start (aa)end (aa)featuredetails 
339358HELIXlost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2109 / 2109
position (AA) of stopcodon in wt / mu AA sequence 703 / 703
position of stopcodon in wt / mu cDNA 2493 / 2493
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 385 / 385
chromosome 2
strand -1
last intron/exon boundary 2362
theoretical NMD boundary in CDS 1927
length of CDS 2109
coding sequence (CDS) position 1040
cDNA position
(for ins/del: last normal base / first normal base)		 1424
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 MSNLSKGTGS RKDTKMRIRA FPVREDVLNS LNNNFLQTLN QAWNDHQTAM VMIRDILMYM
DRVYVQQNNV ENVYNLGLII FRDQVVRYGC IRDHLRQTLL DMIARERKGE VVDRGAIRNA
CQMLMILGLE GRSVYEEDFE APFLEMSAEF FQMESQKFLA ENSASVYIKK VEARINEEIE
RVMHCLDKST EEPIVKVVER ELISKHMKTI VEMENSGLVH MLKNGKTEDL GCMYKLFSRV
PNGLKTMCEC MSSYLREQGK ALVSEEGEGK NPVDYIQGLL DLKSRFDRFL LESFNNDRLF
KQTIAGDFEY FLNLNSRSPE YLSLFIDDKL KKGVKGLTEQ EVETILDKAM VLFRFMQEKD
VFERYYKQHL ARRLLTNKSV SDDSEKNMIS KLKTECGCQF TSKLEGMFRD MSISNTTMDE
FRQHLQATGV SLGGVDLTVR VLTTGYWPTQ SATPKCNIPP APRHAFEIFR RFYLAKHSGR
QLTLQHHMGS ADLNATFYGP VKKEDGSEVG VGGAQVTGSN TRKHILQVST FQMTILMLFN
NREKYTFEEI QQETDIPERE LVRALQSLAC GKPTQRVLTK EPKSKEIENG HIFTVNDQFT
SKLHRVKIQT VAAKQGESDP ERKETRQKVD DDRKHEIEAA IVRIMKSRKK MQHNVLVAEV
TQQLKARFLP SPVVIKKRIE GLIEREYLAR TPEDRKVYTY VA*
mutated AA sequence MSNLSKGTGS RKDTKMRIRA FPVREDVLNS LNNNFLQTLN QAWNDHQTAM VMIRDILMYM
DRVYVQQNNV ENVYNLGLII FRDQVVRYGC IRDHLRQTLL DMIARERKGE VVDRGAIRNA
CQMLMILGLE GRSVYEEDFE APFLEMSAEF FQMESQKFLA ENSASVYIKK VEARINEEIE
RVMHCLDKST EEPIVKVVER ELISKHMKTI VEMENSGLVH MLKNGKTEDL GCMYKLFSRV
PNGLKTMCEC MSSYLREQGK ALVSEEGEGK NPVDYIQGLL DLKSRFDRFL LESFNNDRLF
KQTIAGDFEY FLNLNSRSPE YLSLFIDDKL KKGVKGLTEQ EVETILGKAM VLFRFMQEKD
VFERYYKQHL ARRLLTNKSV SDDSEKNMIS KLKTECGCQF TSKLEGMFRD MSISNTTMDE
FRQHLQATGV SLGGVDLTVR VLTTGYWPTQ SATPKCNIPP APRHAFEIFR RFYLAKHSGR
QLTLQHHMGS ADLNATFYGP VKKEDGSEVG VGGAQVTGSN TRKHILQVST FQMTILMLFN
NREKYTFEEI QQETDIPERE LVRALQSLAC GKPTQRVLTK EPKSKEIENG HIFTVNDQFT
SKLHRVKIQT VAAKQGESDP ERKETRQKVD DDRKHEIEAA IVRIMKSRKK MQHNVLVAEV
TQQLKARFLP SPVVIKKRIE GLIEREYLAR TPEDRKVYTY VA*
speed 1.08 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