Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999173395735 (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) chr4:39064162A>CN/A show variant in all transcripts   IGV
HGNC symbol KLHL5
Ensembl transcript ID ENST00000381930
Genbank transcript ID N/A
UniProt peptide Q96PQ7
alteration type single base exchange
alteration region CDS
DNA changes c.28A>C
cDNA.103A>C
g.17504A>C
AA changes I10L Score: 5 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 10
frameshift no
known variant Reference ID: rs2711941
databasehomozygous (C/C)heterozygousallele carriers
1000G13939022295
ExAC---
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.170.96
0.5840.986
(flanking)1.0910.996
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 increased17513wt: 0.8705 / mu: 0.9553 (marginal change - not scored)wt: TTCCTTTACATATTTTTGTTGTGTACAGCAGGGCATATACT
mu: TTCCTTTACATCTTTTTGTTGTGTACAGCAGGGCATATACT		 gttg|TGTA
Acc increased17511wt: 0.46 / mu: 0.92wt: TTTTCCTTTACATATTTTTGTTGTGTACAGCAGGGCATATA
mu: TTTTCCTTTACATCTTTTTGTTGTGTACAGCAGGGCATATA		 ttgt|TGTG
Acc marginally increased17500wt: 0.6897 / mu: 0.7142 (marginal change - not scored)wt: AATGTGATTTATTTTCCTTTACATATTTTTGTTGTGTACAG
mu: AATGTGATTTATTTTCCTTTACATCTTTTTGTTGTGTACAG		 ttta|CATA
Acc marginally increased17502wt: 0.8826 / mu: 0.8993 (marginal change - not scored)wt: TGTGATTTATTTTCCTTTACATATTTTTGTTGTGTACAGCA
mu: TGTGATTTATTTTCCTTTACATCTTTTTGTTGTGTACAGCA		 taca|TATT
Acc increased17496wt: 0.43 / mu: 0.59wt: TATGAATGTGATTTATTTTCCTTTACATATTTTTGTTGTGT
mu: TATGAATGTGATTTATTTTCCTTTACATCTTTTTGTTGTGT		 ttcc|TTTA
Acc marginally increased17509wt: 0.9724 / mu: 0.9952 (marginal change - not scored)wt: TATTTTCCTTTACATATTTTTGTTGTGTACAGCAGGGCATA
mu: TATTTTCCTTTACATCTTTTTGTTGTGTACAGCAGGGCATA		 tttt|GTTG
Acc marginally increased17505wt: 0.9645 / mu: 0.9690 (marginal change - not scored)wt: GATTTATTTTCCTTTACATATTTTTGTTGTGTACAGCAGGG
mu: GATTTATTTTCCTTTACATCTTTTTGTTGTGTACAGCAGGG		 atat|TTTT
Acc increased17506wt: 0.45 / mu: 0.96wt: ATTTATTTTCCTTTACATATTTTTGTTGTGTACAGCAGGGC
mu: ATTTATTTTCCTTTACATCTTTTTGTTGTGTACAGCAGGGC		 tatt|TTTG
Acc increased17510wt: 0.80 / mu: 0.92wt: ATTTTCCTTTACATATTTTTGTTGTGTACAGCAGGGCATAT
mu: ATTTTCCTTTACATCTTTTTGTTGTGTACAGCAGGGCATAT		 tttg|TTGT
Acc increased17514wt: 0.81 / mu: 0.90wt: TCCTTTACATATTTTTGTTGTGTACAGCAGGGCATATACTT
mu: TCCTTTACATCTTTTTGTTGTGTACAGCAGGGCATATACTT		 ttgt|GTAC
Acc marginally increased17499wt: 0.7974 / mu: 0.8121 (marginal change - not scored)wt: GAATGTGATTTATTTTCCTTTACATATTTTTGTTGTGTACA
mu: GAATGTGATTTATTTTCCTTTACATCTTTTTGTTGTGTACA		 cttt|ACAT
Acc increased17508wt: 0.40 / mu: 0.81wt: TTATTTTCCTTTACATATTTTTGTTGTGTACAGCAGGGCAT
mu: TTATTTTCCTTTACATCTTTTTGTTGTGTACAGCAGGGCAT		 tttt|TGTT
Donor marginally increased17509wt: 0.8305 / mu: 0.8890 (marginal change - not scored)wt: ATTTTTGTTGTGTAC
mu: CTTTTTGTTGTGTAC		 TTTT|gttg
Acc gained175120.40mu: TTTCCTTTACATCTTTTTGTTGTGTACAGCAGGGCATATAC tgtt|GTGT
distance from splice site 103
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      10 MNVIYFPLHIFVVYSRAYTSLV
mutated  all conserved    10 MNVIYFPLHLFVVYSRAYTSLV
Ptroglodytes  all conserved  ENSPTRG00000015989  10 MNVIYFPLHLFVVYSRAYTSLV
Mmulatta  all conserved  ENSMMUG00000002755  9 NVIYFPLHLFVVYSRAYTSLV
Fcatus  no homologue    
Mmusculus  no alignment  ENSMUSG00000054920  n/a
Ggallus  no alignment  ENSGALG00000018686  n/a
Trubripes  no alignment  ENSTRUG00000008162  n/a
Drerio  no alignment  ENSDARG00000062122  n/a
Dmelanogaster  no alignment  FBgn0030114  n/a
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000018507  10 VKVAYLNINIYV-FKNFCTSLN
protein features
start (aa)end (aa)featuredetails 
220287DOMAINBTB.might get lost (downstream of altered splice site)
323323CONFLICTL -> P (in Ref. 2; BAA91845).might get lost (downstream of altered splice site)
435435CONFLICTQ -> R (in Ref. 1; AAL08584).might get lost (downstream of altered splice site)
468514REPEATKelch 1.might get lost (downstream of altered splice site)
515561REPEATKelch 2.might get lost (downstream of altered splice site)
563608REPEATKelch 3.might get lost (downstream of altered splice site)
594594CONFLICTM -> K (in Ref. 2; BAA91845).might get lost (downstream of altered splice site)
609655REPEATKelch 4.might get lost (downstream of altered splice site)
657708REPEATKelch 5.might get lost (downstream of altered splice site)
695695CONFLICTS -> G (in Ref. 2; BAA92121).might get lost (downstream of altered splice site)
709754REPEATKelch 6.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2274 / 2274
position (AA) of stopcodon in wt / mu AA sequence 758 / 758
position of stopcodon in wt / mu cDNA 2349 / 2349
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 76 / 76
chromosome 4
strand 1
last intron/exon boundary 2115
theoretical NMD boundary in CDS 1989
length of CDS 2274
coding sequence (CDS) position 28
cDNA position
(for ins/del: last normal base / first normal base)		 103
gDNA position
(for ins/del: last normal base / first normal base)		 17504
chromosomal position
(for ins/del: last normal base / first normal base)		 39064162
original gDNA sequence snippet TGATTTATTTTCCTTTACATATTTTTGTTGTGTACAGCAGG
altered gDNA sequence snippet TGATTTATTTTCCTTTACATCTTTTTGTTGTGTACAGCAGG
original cDNA sequence snippet TGATTTATTTTCCTTTACATATTTTTGTTGTGTACAGCAGG
altered cDNA sequence snippet TGATTTATTTTCCTTTACATCTTTTTGTTGTGTACAGCAGG
wildtype AA sequence MNVIYFPLHI FVVYSRAYTS LVLVGCTNLC AVLFARCLDD HLVSLRMSGS RKEFDVKQIL
KIRWRWFGHQ ASSPNSTVDS QQGEFWNRGQ TGANGGRKFL DPCSLQLPLA SIGYRRSSQL
DFQNSPSWPM ASTSEVPAFE FTAEDCGGAH WLDRPEVDDG TSEEENESDS SSCRTSNSSQ
TLSSCHTMEP CTSDEFFQAL NHAEQTFKKM ENYLRHKQLC DVILVAGDRR IPAHRLVLSS
VSDYFAAMFT NDVREARQEE IKMEGVEPNS LWSLIQYAYT GRLELKEDNI ECLLSTACLL
QLSQVVEACC KFLMKQLHPS NCLGIRSFAD AQGCTDLHKV AHNYTMEHFM EVIRNQEFVL
LPASEIAKLL ASDDMNIPNE ETILNALLTW VRHDLEQRRK DLSKLLAYIR LPLLAPQFLA
DMENNVLFRD DIECQKLIME AMKYHLLPER RPMLQSPRTK PRKSTVGTLF AVGGMDSTKG
ATSIEKYDLR TNMWTPVANM NGRRLQFGVA VLDDKLYVVG GRDGLKTLNT VECYNPKTKT
WSVMPPMSTH RHGLGVAVLE GPMYAVGGHD GWSYLNTVER WDPQARQWNF VATMSTPRST
VGVAVLSGKL YAVGGRDGSS CLKSVECFDP HTNKWTLCAQ MSKRRGGVGV TTWNGLLYAI
GGHDAPASNL TSRLSDCVER YDPKTDMWTA VASMSISRDA VGVCLLGDKL YAVGGYDGQA
YLNTVEAYDP QTNEWTQVWH SCFIITLTLF LLKQFLW*
mutated AA sequence MNVIYFPLHL FVVYSRAYTS LVLVGCTNLC AVLFARCLDD HLVSLRMSGS RKEFDVKQIL
KIRWRWFGHQ ASSPNSTVDS QQGEFWNRGQ TGANGGRKFL DPCSLQLPLA SIGYRRSSQL
DFQNSPSWPM ASTSEVPAFE FTAEDCGGAH WLDRPEVDDG TSEEENESDS SSCRTSNSSQ
TLSSCHTMEP CTSDEFFQAL NHAEQTFKKM ENYLRHKQLC DVILVAGDRR IPAHRLVLSS
VSDYFAAMFT NDVREARQEE IKMEGVEPNS LWSLIQYAYT GRLELKEDNI ECLLSTACLL
QLSQVVEACC KFLMKQLHPS NCLGIRSFAD AQGCTDLHKV AHNYTMEHFM EVIRNQEFVL
LPASEIAKLL ASDDMNIPNE ETILNALLTW VRHDLEQRRK DLSKLLAYIR LPLLAPQFLA
DMENNVLFRD DIECQKLIME AMKYHLLPER RPMLQSPRTK PRKSTVGTLF AVGGMDSTKG
ATSIEKYDLR TNMWTPVANM NGRRLQFGVA VLDDKLYVVG GRDGLKTLNT VECYNPKTKT
WSVMPPMSTH RHGLGVAVLE GPMYAVGGHD GWSYLNTVER WDPQARQWNF VATMSTPRST
VGVAVLSGKL YAVGGRDGSS CLKSVECFDP HTNKWTLCAQ MSKRRGGVGV TTWNGLLYAI
GGHDAPASNL TSRLSDCVER YDPKTDMWTA VASMSISRDA VGVCLLGDKL YAVGGYDGQA
YLNTVEAYDP QTNEWTQVWH SCFIITLTLF LLKQFLW*
speed 0.68 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