Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999994 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:1636934A>GN/A show variant in all transcripts   IGV
HGNC symbol WDR81
Ensembl transcript ID ENST00000409644
Genbank transcript ID NM_001163809
UniProt peptide Q562E7
alteration type single base exchange
alteration region CDS
DNA changes c.4603A>G
cDNA.4603A>G
g.17118A>G
AA changes M1535V Score: 21 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1535
frameshift no
known variant Reference ID: rs587780503
databasehomozygous (G/G)heterozygousallele carriers
1000G2209571177
ExAC48152221927034
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1840.019
-0.4450
(flanking)0.0560
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 114
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1535SSRNPASVEPTMPGTGPEWDPHGG
mutated  all conserved    1535SSRNPASVEPTVPGTGPEWDPHG
Ptroglodytes  all conserved  ENSPTRG00000008535  1535SSRNPASVEPTVPSTGPEWDPQG
Mmulatta  all conserved  ENSMMUG00000002380  604EPTVPSTGPEWDPQG
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000045374  1528SSRNPASMEPTMASAGPEWDPQS
Ggallus  no alignment  ENSGALG00000002972  n/a
Trubripes  not conserved  ENSTRUG00000002991  504TSASRAEVSTSSAAGFPRRIGCSPFSAPTS
Drerio  not conserved  ENSDARG00000079702  1609GSPESNPVGGQRASAVGLSPSMGRQMSRSP
Dmelanogaster  not conserved  FBgn0032395  1567NGQSKIQL-ATNVSSGQDVDSVD
Celegans  not conserved  F52C9.1  1060SSSPPASIAHSPPSAFTAY----
Xtropicalis  not conserved  ENSXETG00000013545  465KDIESPAAPLSSGSRIGSSF----
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 5826 / 5826
position (AA) of stopcodon in wt / mu AA sequence 1942 / 1942
position of stopcodon in wt / mu cDNA 5826 / 5826
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 1 / 1
chromosome 17
strand 1
last intron/exon boundary 5506
theoretical NMD boundary in CDS 5455
length of CDS 5826
coding sequence (CDS) position 4603
cDNA position
(for ins/del: last normal base / first normal base)		 4603
gDNA position
(for ins/del: last normal base / first normal base)		 17118
chromosomal position
(for ins/del: last normal base / first normal base)		 1636934
original gDNA sequence snippet CTGCCAGCGTGGAGCCCACCATGCCCGGCACCGGGCCCGAG
altered gDNA sequence snippet CTGCCAGCGTGGAGCCCACCGTGCCCGGCACCGGGCCCGAG
original cDNA sequence snippet CTGCCAGCGTGGAGCCCACCATGCCCGGCACCGGGCCCGAG
altered cDNA sequence snippet CTGCCAGCGTGGAGCCCACCGTGCCCGGCACCGGGCCCGAG
wildtype AA sequence MAQGSGGREG ALRTPAGGWH SPPSPDMQEL LRSVERDLSI DPRQLAPAPG GTHVVALVPA
RWLASLRDRR LPLGPCPRAE GLGEAEVRTL LQRSVQRLPA GWTRVEVHGL RKRRLSYPLG
GGLPFEDGSC GPETLTRFMQ EVAAQNYRNL WRHAYHTYGQ PYSHSPAPSA VPALDSVRQA
LQRVYGCSFL PVGETTQCPS YAREGPCPPR GSPACPSLLR AEALLESPEM LYVVHPYVQF
SLHDVVTFSP AKLTNSQAKV LFILFRVLRA MDACHRQGLA CGALSLYHIA VDEKLCSELR
LDLSAYERPE EDENEEAPVA RDEAGIVSQE EQGGQPGQPT GQEELRSLVL DWVHGRISNF
HYLMQLNRLA GRRQGDPNYH PVLPWVVDFT TPHGRFRDLR KSKFRLNKGD KQLDFTYEMT
RQAFVAGGAG GGEPPHVPHH ISDVLSDITY YVYKARRTPR SVLCGHVRAQ WEPHEYPASM
ERMQNWTPDE CIPEFYTDPS IFRSIHPDMP DLDVPAWCSS SQEFVAAHRA LLESREVSRD
LHHWIDLTFG YKLQGKEAVK EKNVCLHLVD AHTHLASYGV VQLFDQPHPQ RLAGAPALAP
EPPLIPKLLV QTIQETTGRE DFTENPGQLP NGVGRPVLEA TPCEASWTRD RPVAGEDDLE
QATEALDSIS LAGKAGDQLG SSSQASPGLL SFSVASASRP GRRNKAAGAD PGEGEEGRIL
LPEGFNPMQA LEELEKTGNF LAKGLGGLLE VPEQPRVQPA VPLQCLLHRD MQALGVLLAE
MVFATRVRTL QPDAPLWVRF QAVRGLCTRH PKEVPVSLQP VLDTLLQMSG PEVPMGAERG
KLDQLFEYRP VSQGLPPPCP SQLLSPFSSV VPFPPYFPAL HRFILLYQAR RVEDEAQGRE
LVFALWQQLG AVLKDITPEG LEILLPFVLS LMSEEHTAVY TAWYLFEPVA KALGPKNANK
YLLKPLIGAY ESPCQLHGRF YLYTDCFVAQ LMVRLGLQAF LTHLLPHVLQ VLAGAEASQE
ESKDLAGAAE EEESGLPGAG PGSCAFGEEI PMDGEPPASS GLGLPDYTSG VSFHDQADLP
ETEDFQAGLY VTESPQPQEA EAVSLGRLSD KSSTSETSLG EERAPDEGGA PVDKSSLRSG
DSSQDLKQSE GSEEEEEEED SCVVLEEEEG EQEEVTGASE LTLSDTVLSM ETVVAGGSGG
DGEEEEEALP EQSEGKEQKI LLDTACKMVR WLSAKLGPTV ASRHVARNLL RLLTSCYVGP
TRQQFTVSSG ESPPLSAGNI YQKRPVLGDI VSGPVLSCLL HIARLYGEPV LTYQYLPYIS
YLVAPGSASG PSRLNSRKEA GLLAAVTLTQ KIIVYLSDTT LMDILPRISH EVLLPVLSFL
TSLVTGFPSG AQARTILCVK TISLIALICL RIGQEMVQQH LSEPVATFFQ VFSQLHELRQ
QDLKLDPAGR GEGQLPQVVF SDGQQRPVDP ALLDELQKVF TLEMAYTIYV PFSCLLGDII
RKIIPNHELV GELAALYLES ISPSSRNPAS VEPTMPGTGP EWDPHGGGCP QDDGHSGTFG
SVLVGNRIQI PNDSRPENPG PLGPISGVGG GGLGSGSDDN ALKQELPRSV HGLSGNWLAY
WQYEIGVSQQ DAHFHFHQIR LQSFPGHSGA VKCVAPLSSE DFFLSGSKDR TVRLWPLYNY
GDGTSETAPR LVYTQHRKSV FFVGQLEAPQ HVVSCDGAVH VWDPFTGKTL RTVEPLDSRV
PLTAVAVMPA PHTSITMASS DSTLRFVDCR KPGLQHEFRL GGGLNPGLVR ALAISPSGRS
VVAGFSSGFM VLLDTRTGLV LRGWPAHEGD ILQIKAVEGS VLVSSSSDHS LTVWKELEQK
PTHHYKSASD PIHTFDLYGS EVVTGTVSNK IGVCSLLEPP SQATTKLSSE NFRGTLTSLA
LLPTKRHLLL GSDNGVIRLL A*
mutated AA sequence MAQGSGGREG ALRTPAGGWH SPPSPDMQEL LRSVERDLSI DPRQLAPAPG GTHVVALVPA
RWLASLRDRR LPLGPCPRAE GLGEAEVRTL LQRSVQRLPA GWTRVEVHGL RKRRLSYPLG
GGLPFEDGSC GPETLTRFMQ EVAAQNYRNL WRHAYHTYGQ PYSHSPAPSA VPALDSVRQA
LQRVYGCSFL PVGETTQCPS YAREGPCPPR GSPACPSLLR AEALLESPEM LYVVHPYVQF
SLHDVVTFSP AKLTNSQAKV LFILFRVLRA MDACHRQGLA CGALSLYHIA VDEKLCSELR
LDLSAYERPE EDENEEAPVA RDEAGIVSQE EQGGQPGQPT GQEELRSLVL DWVHGRISNF
HYLMQLNRLA GRRQGDPNYH PVLPWVVDFT TPHGRFRDLR KSKFRLNKGD KQLDFTYEMT
RQAFVAGGAG GGEPPHVPHH ISDVLSDITY YVYKARRTPR SVLCGHVRAQ WEPHEYPASM
ERMQNWTPDE CIPEFYTDPS IFRSIHPDMP DLDVPAWCSS SQEFVAAHRA LLESREVSRD
LHHWIDLTFG YKLQGKEAVK EKNVCLHLVD AHTHLASYGV VQLFDQPHPQ RLAGAPALAP
EPPLIPKLLV QTIQETTGRE DFTENPGQLP NGVGRPVLEA TPCEASWTRD RPVAGEDDLE
QATEALDSIS LAGKAGDQLG SSSQASPGLL SFSVASASRP GRRNKAAGAD PGEGEEGRIL
LPEGFNPMQA LEELEKTGNF LAKGLGGLLE VPEQPRVQPA VPLQCLLHRD MQALGVLLAE
MVFATRVRTL QPDAPLWVRF QAVRGLCTRH PKEVPVSLQP VLDTLLQMSG PEVPMGAERG
KLDQLFEYRP VSQGLPPPCP SQLLSPFSSV VPFPPYFPAL HRFILLYQAR RVEDEAQGRE
LVFALWQQLG AVLKDITPEG LEILLPFVLS LMSEEHTAVY TAWYLFEPVA KALGPKNANK
YLLKPLIGAY ESPCQLHGRF YLYTDCFVAQ LMVRLGLQAF LTHLLPHVLQ VLAGAEASQE
ESKDLAGAAE EEESGLPGAG PGSCAFGEEI PMDGEPPASS GLGLPDYTSG VSFHDQADLP
ETEDFQAGLY VTESPQPQEA EAVSLGRLSD KSSTSETSLG EERAPDEGGA PVDKSSLRSG
DSSQDLKQSE GSEEEEEEED SCVVLEEEEG EQEEVTGASE LTLSDTVLSM ETVVAGGSGG
DGEEEEEALP EQSEGKEQKI LLDTACKMVR WLSAKLGPTV ASRHVARNLL RLLTSCYVGP
TRQQFTVSSG ESPPLSAGNI YQKRPVLGDI VSGPVLSCLL HIARLYGEPV LTYQYLPYIS
YLVAPGSASG PSRLNSRKEA GLLAAVTLTQ KIIVYLSDTT LMDILPRISH EVLLPVLSFL
TSLVTGFPSG AQARTILCVK TISLIALICL RIGQEMVQQH LSEPVATFFQ VFSQLHELRQ
QDLKLDPAGR GEGQLPQVVF SDGQQRPVDP ALLDELQKVF TLEMAYTIYV PFSCLLGDII
RKIIPNHELV GELAALYLES ISPSSRNPAS VEPTVPGTGP EWDPHGGGCP QDDGHSGTFG
SVLVGNRIQI PNDSRPENPG PLGPISGVGG GGLGSGSDDN ALKQELPRSV HGLSGNWLAY
WQYEIGVSQQ DAHFHFHQIR LQSFPGHSGA VKCVAPLSSE DFFLSGSKDR TVRLWPLYNY
GDGTSETAPR LVYTQHRKSV FFVGQLEAPQ HVVSCDGAVH VWDPFTGKTL RTVEPLDSRV
PLTAVAVMPA PHTSITMASS DSTLRFVDCR KPGLQHEFRL GGGLNPGLVR ALAISPSGRS
VVAGFSSGFM VLLDTRTGLV LRGWPAHEGD ILQIKAVEGS VLVSSSSDHS LTVWKELEQK
PTHHYKSASD PIHTFDLYGS EVVTGTVSNK IGVCSLLEPP SQATTKLSSE NFRGTLTSLA
LLPTKRHLLL GSDNGVIRLL A*
speed 0.52 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