Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999991 (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
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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 ENST00000309182
Genbank transcript ID NM_152348
UniProt peptide Q562E7
alteration type single base exchange
alteration region CDS
DNA changes c.1450A>G
cDNA.1671A>G
g.17118A>G
AA changes M484V Score: 21 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 484
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      484SSRNPASVEPTMPGTGPEWDPHGG
mutated  all conserved    484EPTVPGTGPEWDPHG
Ptroglodytes  all conserved  ENSPTRG00000008535  1535EPTVPSTGPEWDPQG
Mmulatta  all conserved  ENSMMUG00000002380  604EPTVPSTGPEWDPQG
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000045374  1528EPTMASAGPEWDPQS
Ggallus  no alignment  ENSGALG00000002972  n/a
Trubripes  not conserved  ENSTRUG00000002991  504TSASRAEVSTSSAAGFPRRIGCSPFSAPTS
Drerio  not conserved  ENSDARG00000079702  1609GSPESNPVGGQRASAVGLSPSMGRQMSRSPFPAPSSTSTPLG
Dmelanogaster  not conserved  FBgn0032395  1570NGQSKIQLA-TNVSSGQDVDSVD
Celegans  not conserved  F52C9.1  1060SSSPPASIAHSPPSAFTAY----
Xtropicalis  not conserved  ENSXETG00000013545  466PAAPLSSGSRIGSSFY---
protein features
start (aa)end (aa)featuredetails 
337614DOMAINBEACH.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2673 / 2673
position (AA) of stopcodon in wt / mu AA sequence 891 / 891
position of stopcodon in wt / mu cDNA 2894 / 2894
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 222 / 222
chromosome 17
strand 1
last intron/exon boundary 2574
theoretical NMD boundary in CDS 2302
length of CDS 2673
coding sequence (CDS) position 1450
cDNA position
(for ins/del: last normal base / first normal base)		 1671
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 MDGEPPASSG LGLPDYTSGV SFHDQADLPE TEDFQAGLYV TESPQPQEAE AVSLGRLSDK
SSTSETSLGE ERAPDEGGAP VDKSSLRSGD SSQDLKQSEG SEEEEEEEDS CVVLEEEEGE
QEEVTGASEL TLSDTVLSME TVVAGGSGGD GEEEEEALPE QSEGKEQKIL LDTACKMVRW
LSAKLGPTVA SRHVARNLLR LLTSCYVGPT RQQFTVSSGE SPPLSAGNIY QKRPVLGDIV
SGPVLSCLLH IARLYGEPVL TYQYLPYISY LVAPGSASGP SRLNSRKEAG LLAAVTLTQK
IIVYLSDTTL MDILPRISHE VLLPVLSFLT SLVTGFPSGA QARTILCVKT ISLIALICLR
IGQEMVQQHL SEPVATFFQV FSQLHELRQQ DLKLDPAGRG EGQLPQVVFS DGQQRPVDPA
LLDELQKVFT LEMAYTIYVP FSCLLGDIIR KIIPNHELVG ELAALYLESI SPSSRNPASV
EPTMPGTGPE WDPHGGGCPQ DDGHSGTFGS VLVGNRIQIP NDSRPENPGP LGPISGVGGG
GLGSGSDDNA LKQELPRSVH GLSGNWLAYW QYEIGVSQQD AHFHFHQIRL QSFPGHSGAV
KCVAPLSSED FFLSGSKDRT VRLWPLYNYG DGTSETAPRL VYTQHRKSVF FVGQLEAPQH
VVSCDGAVHV WDPFTGKTLR TVEPLDSRVP LTAVAVMPAP HTSITMASSD STLRFVDCRK
PGLQHEFRLG GGLNPGLVRA LAISPSGRSV VAGFSSGFMV LLDTRTGLVL RGWPAHEGDI
LQIKAVEGSV LVSSSSDHSL TVWKELEQKP THHYKSASDP IHTFDLYGSE VVTGTVSNKI
GVCSLLEPPS QATTKLSSEN FRGTLTSLAL LPTKRHLLLG SDNGVIRLLA *
mutated AA sequence MDGEPPASSG LGLPDYTSGV SFHDQADLPE TEDFQAGLYV TESPQPQEAE AVSLGRLSDK
SSTSETSLGE ERAPDEGGAP VDKSSLRSGD SSQDLKQSEG SEEEEEEEDS CVVLEEEEGE
QEEVTGASEL TLSDTVLSME TVVAGGSGGD GEEEEEALPE QSEGKEQKIL LDTACKMVRW
LSAKLGPTVA SRHVARNLLR LLTSCYVGPT RQQFTVSSGE SPPLSAGNIY QKRPVLGDIV
SGPVLSCLLH IARLYGEPVL TYQYLPYISY LVAPGSASGP SRLNSRKEAG LLAAVTLTQK
IIVYLSDTTL MDILPRISHE VLLPVLSFLT SLVTGFPSGA QARTILCVKT ISLIALICLR
IGQEMVQQHL SEPVATFFQV FSQLHELRQQ DLKLDPAGRG EGQLPQVVFS DGQQRPVDPA
LLDELQKVFT LEMAYTIYVP FSCLLGDIIR KIIPNHELVG ELAALYLESI SPSSRNPASV
EPTVPGTGPE WDPHGGGCPQ DDGHSGTFGS VLVGNRIQIP NDSRPENPGP LGPISGVGGG
GLGSGSDDNA LKQELPRSVH GLSGNWLAYW QYEIGVSQQD AHFHFHQIRL QSFPGHSGAV
KCVAPLSSED FFLSGSKDRT VRLWPLYNYG DGTSETAPRL VYTQHRKSVF FVGQLEAPQH
VVSCDGAVHV WDPFTGKTLR TVEPLDSRVP LTAVAVMPAP HTSITMASSD STLRFVDCRK
PGLQHEFRLG GGLNPGLVRA LAISPSGRSV VAGFSSGFMV LLDTRTGLVL RGWPAHEGDI
LQIKAVEGSV LVSSSSDHSL TVWKELEQKP THHYKSASDP IHTFDLYGSE VVTGTVSNKI
GVCSLLEPPS QATTKLSSEN FRGTLTSLAL LPTKRHLLLG SDNGVIRLLA *
speed 0.60 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