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 ENST00000545662
Genbank transcript ID N/A
UniProt peptide Q562E7
alteration type single base exchange
alteration region CDS
DNA changes c.496A>G
cDNA.664A>G
g.17118A>G
AA changes M166V Score: 21 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 166
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      166SSRNPASVEPTMPGTGPEWDPHGG
mutated  all conserved    166SSRNPASVEPTVPGTGPEWDPHG
Ptroglodytes  all conserved  ENSPTRG00000008535  1535SSRNPASVEPTVPSTGPEWDPQG
Mmulatta  all conserved  ENSMMUG00000002380  604SSRNPASMEPTVPSTGPEWDPQG
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000045374  1528SSRNPASMEPTMASAGPEWDPQS
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  1071SSSPPASIAHSPPSAFTAY----
Xtropicalis  not conserved  ENSXETG00000013545  465KDIESPAAPLSSGSRIGSSFY---
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1719 / 1719
position (AA) of stopcodon in wt / mu AA sequence 573 / 573
position of stopcodon in wt / mu cDNA 1887 / 1887
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 169 / 169
chromosome 17
strand 1
last intron/exon boundary 1567
theoretical NMD boundary in CDS 1348
length of CDS 1719
coding sequence (CDS) position 496
cDNA position
(for ins/del: last normal base / first normal base)		 664
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 MGSLSSPTST CPTSATWFPS GAQARTILCV KTISLIALIC LRIGQEMVQQ HLSEPVATFF
QVFSQLHELR QQDLKLDPAG RGEGQLPQVV FSDGQQRPVD PALLDELQKV FTLEMAYTIY
VPFSCLLGDI IRKIIPNHEL VGELAALYLE SISPSSRNPA SVEPTMPGTG PEWDPHGGGC
PQDDGHSGTF GSVLVGNRIQ IPNDSRPENP GPLGPISGVG GGGLGSGSDD NALKQELPRS
VHGLSGNWLA YWQYEIGVSQ QDAHFHFHQI RLQSFPGHSG AVKCVAPLSS EDFFLSGSKD
RTVRLWPLYN YGDGTSETAP RLVYTQHRKS VFFVGQLEAP QHVVSCDGAV HVWDPFTGKT
LRTVEPLDSR VPLTAVAVMP APHTSITMAS SDSTLRFVDC RKPGLQHEFR LGGGLNPGLV
RALAISPSGR SVVAGFSSGF MVLLDTRTGL VLRGWPAHEG DILQIKAVEG SVLVSSSSDH
SLTVWKELEQ KPTHHYKSAS DPIHTFDLYG SEVVTGTVSN KIGVCSLLEP PSQATTKLSS
ENFRGTLTSL ALLPTKRHLL LGSDNGVIRL LA*
mutated AA sequence MGSLSSPTST CPTSATWFPS GAQARTILCV KTISLIALIC LRIGQEMVQQ HLSEPVATFF
QVFSQLHELR QQDLKLDPAG RGEGQLPQVV FSDGQQRPVD PALLDELQKV FTLEMAYTIY
VPFSCLLGDI IRKIIPNHEL VGELAALYLE SISPSSRNPA SVEPTVPGTG PEWDPHGGGC
PQDDGHSGTF GSVLVGNRIQ IPNDSRPENP GPLGPISGVG GGGLGSGSDD NALKQELPRS
VHGLSGNWLA YWQYEIGVSQ QDAHFHFHQI RLQSFPGHSG AVKCVAPLSS EDFFLSGSKD
RTVRLWPLYN YGDGTSETAP RLVYTQHRKS VFFVGQLEAP QHVVSCDGAV HVWDPFTGKT
LRTVEPLDSR VPLTAVAVMP APHTSITMAS SDSTLRFVDC RKPGLQHEFR LGGGLNPGLV
RALAISPSGR SVVAGFSSGF MVLLDTRTGL VLRGWPAHEG DILQIKAVEG SVLVSSSSDH
SLTVWKELEQ KPTHHYKSAS DPIHTFDLYG SEVVTGTVSN KIGVCSLLEP PSQATTKLSS
ENFRGTLTSL ALLPTKRHLL LGSDNGVIRL LA*
speed 0.61 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