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
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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 ENST00000419248
Genbank transcript ID NM_001163811
UniProt peptide Q562E7
alteration type single base exchange
alteration region CDS
DNA changes c.922A>G
cDNA.1183A>G
g.17118A>G
AA changes M308V Score: 21 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 308
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      308SSRNPASVEPTMPGTGPEWDPHGG
mutated  all conserved    308PASVEPTVPGTGPEWDPHG
Ptroglodytes  all conserved  ENSPTRG00000008535  1535PASVEPTVPSTGPEWDPQG
Mmulatta  all conserved  ENSMMUG00000002380  604PASMEPTVPSTGPEWDPQG
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000045374  1528PASMEPTMASAGPEWDPQS
Ggallus  no alignment  ENSGALG00000002972  n/a
Trubripes  not conserved  ENSTRUG00000002991  506TSASRAEVSTSSAAGFPRRIGCSPFSAPTS
Drerio  not conserved  ENSDARG00000079702  1610ESNPVGGQRASAVGLSPSMGRQMSRSPFPAPSSTSTPLG
Dmelanogaster  not conserved  FBgn0032395  1567NGQSKIQLA-TNVSSGQDVDSVD
Celegans  not conserved  F52C9.1  1060SSPPASIAHSPPSAFTAY----
Xtropicalis  not conserved  ENSXETG00000013545  465DIESPAAPLSSGSRIGSSFY---
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2145 / 2145
position (AA) of stopcodon in wt / mu AA sequence 715 / 715
position of stopcodon in wt / mu cDNA 2406 / 2406
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 262 / 262
chromosome 17
strand 1
last intron/exon boundary 2086
theoretical NMD boundary in CDS 1774
length of CDS 2145
coding sequence (CDS) position 922
cDNA position
(for ins/del: last normal base / first normal base)		 1183
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 MVRWLSAKLG PTVASRHVAR NLLRLLTSCY VGPTRQQFTV SSGESPPLSA GNIYQKRPVL
GDIVSGPVLS CLLHIARLYG EPVLTYQYLP YISYLVAPGS ASGPSRLNSR KEAGLLAAVT
LTQKIIVYLS DTTLMDILPR ISHEVLLPVL SFLTSLVTGF PSGAQARTIL CVKTISLIAL
ICLRIGQEMV QQHLSEPVAT FFQVFSQLHE LRQQDLKLDP AGRGEGQLPQ VVFSDGQQRP
VDPALLDELQ KVFTLEMAYT IYVPFSCLLG DIIRKIIPNH ELVGELAALY LESISPSSRN
PASVEPTMPG TGPEWDPHGG GCPQDDGHSG TFGSVLVGNR IQIPNDSRPE NPGPLGPISG
VGGGGLGSGS DDNALKQELP RSVHGLSGNW LAYWQYEIGV SQQDAHFHFH QIRLQSFPGH
SGAVKCVAPL SSEDFFLSGS KDRTVRLWPL YNYGDGTSET APRLVYTQHR KSVFFVGQLE
APQHVVSCDG AVHVWDPFTG KTLRTVEPLD SRVPLTAVAV MPAPHTSITM ASSDSTLRFV
DCRKPGLQHE FRLGGGLNPG LVRALAISPS GRSVVAGFSS GFMVLLDTRT GLVLRGWPAH
EGDILQIKAV EGSVLVSSSS DHSLTVWKEL EQKPTHHYKS ASDPIHTFDL YGSEVVTGTV
SNKIGVCSLL EPPSQATTKL SSENFRGTLT SLALLPTKRH LLLGSDNGVI RLLA*
mutated AA sequence MVRWLSAKLG PTVASRHVAR NLLRLLTSCY VGPTRQQFTV SSGESPPLSA GNIYQKRPVL
GDIVSGPVLS CLLHIARLYG EPVLTYQYLP YISYLVAPGS ASGPSRLNSR KEAGLLAAVT
LTQKIIVYLS DTTLMDILPR ISHEVLLPVL SFLTSLVTGF PSGAQARTIL CVKTISLIAL
ICLRIGQEMV QQHLSEPVAT FFQVFSQLHE LRQQDLKLDP AGRGEGQLPQ VVFSDGQQRP
VDPALLDELQ KVFTLEMAYT IYVPFSCLLG DIIRKIIPNH ELVGELAALY LESISPSSRN
PASVEPTVPG TGPEWDPHGG GCPQDDGHSG TFGSVLVGNR IQIPNDSRPE NPGPLGPISG
VGGGGLGSGS DDNALKQELP RSVHGLSGNW LAYWQYEIGV SQQDAHFHFH QIRLQSFPGH
SGAVKCVAPL SSEDFFLSGS KDRTVRLWPL YNYGDGTSET APRLVYTQHR KSVFFVGQLE
APQHVVSCDG AVHVWDPFTG KTLRTVEPLD SRVPLTAVAV MPAPHTSITM ASSDSTLRFV
DCRKPGLQHE FRLGGGLNPG LVRALAISPS GRSVVAGFSS GFMVLLDTRT GLVLRGWPAH
EGDILQIKAV EGSVLVSSSS DHSLTVWKEL EQKPTHHYKS ASDPIHTFDL YGSEVVTGTV
SNKIGVCSLL EPPSQATTKL SSENFRGTLT SLALLPTKRH LLLGSDNGVI RLLA*
speed 0.93 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