Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.998504359997255 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM053188)
  • known disease mutation: rs1614 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:43006629T>GN/A show variant in all transcripts   IGV
HGNC symbol CUL7
Ensembl transcript ID ENST00000535468
Genbank transcript ID NM_001168370
UniProt peptide Q14999
alteration type single base exchange
alteration region CDS
DNA changes c.4643A>C
cDNA.4730A>C
g.15055A>C
AA changes H1548P Score: 77 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1548
frameshift no
known variant Reference ID: rs121918229
databasehomozygous (G/G)heterozygousallele carriers
1000G---
ExAC011

known disease mutation: rs1614 (pathogenic for Three M syndrome 1) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM053188)

known disease mutation at this position, please check HGMD for details (HGMD ID CM053188)
known disease mutation at this position, please check HGMD for details (HGMD ID CM053188)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.4690.868
2.780.998
(flanking)5.3251
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc gained150660.43mu: AGACCCTGCCTGTGTCCACCGTGCAGATGTGGCTACTGCTG accg|TGCA
distance from splice site 50
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1548WAELQFGNQTLHVSTVQMWLLLYL
mutated  not conserved    1548WAELQFGNQTLPVSTVQMWLLLY
Ptroglodytes  all identical  ENSPTRG00000018185  1548WAELQFGNQTLHVSTVQMWLLLY
Mmulatta  all identical  ENSMMUG00000002451  1463WAELQFGNQTLHVSTV
Fcatus  all identical  ENSFCAG00000009717  1458RAELQFGDQTLHVSTVQMWLLLY
Mmusculus  all identical  ENSMUSG00000038545  1455VQFGGQILHVSTVQMWLLLH
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000018504  1392NADVQYGSLTLQVSTLQMFILLQ
protein features
start (aa)end (aa)featuredetails 
15761576CROSSLNKGlycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in NEDD8) (By similarity).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 5349 / 5349
position (AA) of stopcodon in wt / mu AA sequence 1783 / 1783
position of stopcodon in wt / mu cDNA 5436 / 5436
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 88 / 88
chromosome 6
strand -1
last intron/exon boundary 5113
theoretical NMD boundary in CDS 4975
length of CDS 5349
coding sequence (CDS) position 4643
cDNA position
(for ins/del: last normal base / first normal base)		 4730
gDNA position
(for ins/del: last normal base / first normal base)		 15055
chromosomal position
(for ins/del: last normal base / first normal base)		 43006629
original gDNA sequence snippet GTTTGGGAACCAGACCCTGCATGTGTCCACCGTGCAGATGT
altered gDNA sequence snippet GTTTGGGAACCAGACCCTGCCTGTGTCCACCGTGCAGATGT
original cDNA sequence snippet GTTTGGGAACCAGACCCTGCATGTGTCCACCGTGCAGATGT
altered cDNA sequence snippet GTTTGGGAACCAGACCCTGCCTGTGTCCACCGTGCAGATGT
wildtype AA sequence MSRGFWLAEP LAGTGPHPAP VAADSRGCSS VPRRHAPSRL SVSTPSRGPG ARMVGELRYR
EFRVPLGPGL HAYPDELIRQ RVGHDGHPEY QIRWLILRRG DEGDGGSGQV DCKAEHILLW
MSKDEIYANC HKMLGEDGQV IGPSQESAGE VGALDKSVLE EMETDVKSLI QRALRQLEEC
VGTIPPAPLL HTVHVLSAYA SIEPLTGVFK DPRVLDLLMH MLSSPDYQIR WSAGRMIQAL
SSHDAGEGQC GEEGKAGEGL GRLRDSQDTV AGASDLIRTR TQILLSLSQQ EAIEKHLDFD
SRCALLALFA QATLSEHPMS FEGIQLPQVP GRVLFSLVKR YLHVTSLLDQ LNDSAAEPGA
QNTSAPEELS GERGQLELEF SMAMGTLISE LVQAMRWDQA SDRPRSSARS PGSIFQPQLA
DVSPGLPAAQ AQPSFRRSRR FRPRSEFASG NTYALYVRDT LQPGMRVRML DDYEEISAGD
EGEFRQSNNG VPPVQVFWES TGRTYWVHWH MLEILGFEED IEDMVEADEY QGAVASRVLG
RALPAWRWRP MTELYAVPYV LPEDEDTEEC EHLTLAEWWE LLFFIKKLDG PDHQEVLQIL
QENLDGEILD DEILAELAVP IELAQDLLLT LPQRLNDSAL RDLINCHVYK KYGPEALAGN
QAYPSLLEAQ EDVLLLDAQA QAKDSEDAAK VEAKEPPSQS PNTPLQRLVE GYGPAGKILL
DLEQALSSEG TQENKVKPLL LQLQRQPQPF LALMQSLDTP ETNRTLHLTV LRILKQLVDF
PEALLLPWHE AVDACMACLR SPNTDREVLQ ELIFFLHRLT SVSRDYAVVL NQLGARDAIS
KALEKHLGKL ELAQELRDMV FKCEKHAHLY RKLITNILGG CIQMVLGQIE DHRRTHQPIN
IPFFDVFLRY LCQGSSVEVK EDKCWEKVEV SSNPHRASKL TDHNPKTYWE SNGSAGSHYI
TLHMRRGILI RQLTLLVASE DSSYMPARVV VCGGDSTSSL HTELNSVNVM PSASRVILLE
NLTRFWPIIQ IRIKRCQQGG IDTRIRGLEI LGPKPTFWPV FREQLCRHTR LFYMVRAQAW
SQDMAEDRRS LLHLSSRLNG ALRQEQNFAD RFLPDDEAAQ ALGKTCWEAL VSPVVQNITS
PDEDGISPLG WLLDQYLECQ EAVFNPQSRG PAFFSRVRRL THLLVHVEPC EAPPPVVATP
RPKGRNRSHD WSSLATRGLP SSIMRNLTRC WRAVVEKQVN NFLTSSWRDD DFVPRYCEHF
NILQNSSSEL FGPRAAFLLA LQNGCAGALL KLPFLKAAHV SEQFARHIDQ QIQGSRIGGA
QEMERLAQLQ QCLQAVLIFS GLEIATTFEH YYQHYMADRL LGVVSSWLEG AVLEQIGPCF
PNRLPQQMLQ SLSTSKELQR QFHVYQLQQL DQELLKLEDT EKKIQVGLGA SGKEHKSEKE
EEAGAAAVVD VAEGEEEEEE NEDLYYEGAM PEVSVLVLSR HSWPVASICH TLNPRTCLPS
YLRGTLNRYS NFYNKSQSHP ALERGSQRRL QWTWLGWAEL QFGNQTLHVS TVQMWLLLYL
NDLKAVSVES LLAFSGLSAD MLNQAIGPLT SSRGPLDLHE QKDIPGGVLK IRDGSKEPRS
RWDIVRLIPP QTYLQAEGED GQNLEKRRNL LNCLIVRILK AHGDEGLHID QLVCLVLEAW
QKGPCPPRGL VSSLGKGSAC SSTDVLSCIL HLLGKGTLRR HDDRPQVLSY AVPVTVMEPH
TESLNPGSSG PNPPLTFHTL QIRSRGVPYA SCTATQSFST FR*
mutated AA sequence MSRGFWLAEP LAGTGPHPAP VAADSRGCSS VPRRHAPSRL SVSTPSRGPG ARMVGELRYR
EFRVPLGPGL HAYPDELIRQ RVGHDGHPEY QIRWLILRRG DEGDGGSGQV DCKAEHILLW
MSKDEIYANC HKMLGEDGQV IGPSQESAGE VGALDKSVLE EMETDVKSLI QRALRQLEEC
VGTIPPAPLL HTVHVLSAYA SIEPLTGVFK DPRVLDLLMH MLSSPDYQIR WSAGRMIQAL
SSHDAGEGQC GEEGKAGEGL GRLRDSQDTV AGASDLIRTR TQILLSLSQQ EAIEKHLDFD
SRCALLALFA QATLSEHPMS FEGIQLPQVP GRVLFSLVKR YLHVTSLLDQ LNDSAAEPGA
QNTSAPEELS GERGQLELEF SMAMGTLISE LVQAMRWDQA SDRPRSSARS PGSIFQPQLA
DVSPGLPAAQ AQPSFRRSRR FRPRSEFASG NTYALYVRDT LQPGMRVRML DDYEEISAGD
EGEFRQSNNG VPPVQVFWES TGRTYWVHWH MLEILGFEED IEDMVEADEY QGAVASRVLG
RALPAWRWRP MTELYAVPYV LPEDEDTEEC EHLTLAEWWE LLFFIKKLDG PDHQEVLQIL
QENLDGEILD DEILAELAVP IELAQDLLLT LPQRLNDSAL RDLINCHVYK KYGPEALAGN
QAYPSLLEAQ EDVLLLDAQA QAKDSEDAAK VEAKEPPSQS PNTPLQRLVE GYGPAGKILL
DLEQALSSEG TQENKVKPLL LQLQRQPQPF LALMQSLDTP ETNRTLHLTV LRILKQLVDF
PEALLLPWHE AVDACMACLR SPNTDREVLQ ELIFFLHRLT SVSRDYAVVL NQLGARDAIS
KALEKHLGKL ELAQELRDMV FKCEKHAHLY RKLITNILGG CIQMVLGQIE DHRRTHQPIN
IPFFDVFLRY LCQGSSVEVK EDKCWEKVEV SSNPHRASKL TDHNPKTYWE SNGSAGSHYI
TLHMRRGILI RQLTLLVASE DSSYMPARVV VCGGDSTSSL HTELNSVNVM PSASRVILLE
NLTRFWPIIQ IRIKRCQQGG IDTRIRGLEI LGPKPTFWPV FREQLCRHTR LFYMVRAQAW
SQDMAEDRRS LLHLSSRLNG ALRQEQNFAD RFLPDDEAAQ ALGKTCWEAL VSPVVQNITS
PDEDGISPLG WLLDQYLECQ EAVFNPQSRG PAFFSRVRRL THLLVHVEPC EAPPPVVATP
RPKGRNRSHD WSSLATRGLP SSIMRNLTRC WRAVVEKQVN NFLTSSWRDD DFVPRYCEHF
NILQNSSSEL FGPRAAFLLA LQNGCAGALL KLPFLKAAHV SEQFARHIDQ QIQGSRIGGA
QEMERLAQLQ QCLQAVLIFS GLEIATTFEH YYQHYMADRL LGVVSSWLEG AVLEQIGPCF
PNRLPQQMLQ SLSTSKELQR QFHVYQLQQL DQELLKLEDT EKKIQVGLGA SGKEHKSEKE
EEAGAAAVVD VAEGEEEEEE NEDLYYEGAM PEVSVLVLSR HSWPVASICH TLNPRTCLPS
YLRGTLNRYS NFYNKSQSHP ALERGSQRRL QWTWLGWAEL QFGNQTLPVS TVQMWLLLYL
NDLKAVSVES LLAFSGLSAD MLNQAIGPLT SSRGPLDLHE QKDIPGGVLK IRDGSKEPRS
RWDIVRLIPP QTYLQAEGED GQNLEKRRNL LNCLIVRILK AHGDEGLHID QLVCLVLEAW
QKGPCPPRGL VSSLGKGSAC SSTDVLSCIL HLLGKGTLRR HDDRPQVLSY AVPVTVMEPH
TESLNPGSSG PNPPLTFHTL QIRSRGVPYA SCTATQSFST FR*
speed 1.29 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