Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.146662074811512 (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
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:57136585C>TN/A show variant in all transcripts   IGV
HGNC symbol IL17RD
Ensembl transcript ID ENST00000463523
Genbank transcript ID N/A
UniProt peptide Q8NFM7
alteration type single base exchange
alteration region CDS
DNA changes c.469G>A
cDNA.814G>A
g.67750G>A
AA changes V157M Score: 21 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 157
frameshift no
known variant Reference ID: rs17057718
databasehomozygous (T/T)heterozygousallele carriers
1000G155721876
ExAC28241807420898
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.7230.979
2.6620.971
(flanking)-1.1850.287
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased67746wt: 0.9858 / mu: 0.9983 (marginal change - not scored)wt: ATCAGAGCCGTGGCC
mu: ATCAGAGCCATGGCC		 CAGA|gccg
distance from splice site 33
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      157VHSPWAGPIRAVAITVPLVVISAF
mutated  all conserved    157VHSPWAGPIRAMAITVPLVVISA
Ptroglodytes  all identical  ENSPTRG00000015043  259VHSPWAGPIRAVAITVPLVVISA
Mmulatta  all identical  ENSMMUG00000016602  301VHSPWAGPIRAVAITVPLVVISA
Fcatus  not conserved  ENSFCAG00000003575  301XXXXXXXXXXXXXXXXXXXX
Mmusculus  all identical  ENSMUSG00000040717  301VQSPWAGPIRAVAITVPLVVISA
Ggallus  all conserved  ENSGALG00000005499  303VHSPWAGPIRAIAITVPLVVISA
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000038843  300VHSPWAGPIRAMAITVPLVIMSA
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000000904  300VHSPWAGPIRAIAITVPLVIISA
protein features
start (aa)end (aa)featuredetails 
17299TOPO_DOMExtracellular (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1788 / 1788
position (AA) of stopcodon in wt / mu AA sequence 596 / 596
position of stopcodon in wt / mu cDNA 2133 / 2133
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 346 / 346
chromosome 3
strand -1
last intron/exon boundary 2021
theoretical NMD boundary in CDS 1625
length of CDS 1788
coding sequence (CDS) position 469
cDNA position
(for ins/del: last normal base / first normal base)		 814
gDNA position
(for ins/del: last normal base / first normal base)		 67750
chromosomal position
(for ins/del: last normal base / first normal base)		 57136585
original gDNA sequence snippet GGGCCGGGCCCATCAGAGCCGTGGCCATCACAGTGCCACTG
altered gDNA sequence snippet GGGCCGGGCCCATCAGAGCCATGGCCATCACAGTGCCACTG
original cDNA sequence snippet GGGCCGGGCCCATCAGAGCCGTGGCCATCACAGTGCCACTG
altered cDNA sequence snippet GGGCCGGGCCCATCAGAGCCATGGCCATCACAGTGCCACTG
wildtype AA sequence MESQPFLNMK FETDYFVKVV PFPSIKNESN YHPFFFRTRA CDLLLQPDNL ACKPFWKPRN
LNISQHGSDM QVSFDHAPHN FGFRFFYLHY KLKHEGPFKR KTCKQEQTTE TTSCLLQNVS
PGDYIIELVD DTNTTRKVMH YALKPVHSPW AGPIRAVAIT VPLVVISAFA TLFTVMCRKK
QQENIYSHLD EESSESSTYT AALPRERLRP RPKVFLCYSS KDGQNHMNVV QCFAYFLQDF
CGCEVALDLW EDFSLCREGQ REWVIQKIHE SQFIIVVCSK GMKYFVDKKN YKHKGGGRGS
GKGELFLVAV SAIAEKLRQA KQSSSAALSK FIAVYFDYSC EGDVPGILDL STKYRLMDNL
PQLCSHLHSR DHGLQEPGQH TRQGSRRNYF RSKSGRSLYV AICNMHQFID EEPDWFEKQF
VPFHPPPLRY REPVLEKFDS GLVLNDVMCK PGPESDFCLK VEAAVLGATG PADSQHESQH
GGLDQDGEAR PALDGSAALQ PLLHTVKAGS PSDMPRDSGI YDSSVPSSEL SLPLMEGLST
DQTETSSLTE SVSSSSGLGE EEPPALPSKL LSSGSCKADL GCRSYTDELH AVAPL*
mutated AA sequence MESQPFLNMK FETDYFVKVV PFPSIKNESN YHPFFFRTRA CDLLLQPDNL ACKPFWKPRN
LNISQHGSDM QVSFDHAPHN FGFRFFYLHY KLKHEGPFKR KTCKQEQTTE TTSCLLQNVS
PGDYIIELVD DTNTTRKVMH YALKPVHSPW AGPIRAMAIT VPLVVISAFA TLFTVMCRKK
QQENIYSHLD EESSESSTYT AALPRERLRP RPKVFLCYSS KDGQNHMNVV QCFAYFLQDF
CGCEVALDLW EDFSLCREGQ REWVIQKIHE SQFIIVVCSK GMKYFVDKKN YKHKGGGRGS
GKGELFLVAV SAIAEKLRQA KQSSSAALSK FIAVYFDYSC EGDVPGILDL STKYRLMDNL
PQLCSHLHSR DHGLQEPGQH TRQGSRRNYF RSKSGRSLYV AICNMHQFID EEPDWFEKQF
VPFHPPPLRY REPVLEKFDS GLVLNDVMCK PGPESDFCLK VEAAVLGATG PADSQHESQH
GGLDQDGEAR PALDGSAALQ PLLHTVKAGS PSDMPRDSGI YDSSVPSSEL SLPLMEGLST
DQTETSSLTE SVSSSSGLGE EEPPALPSKL LSSGSCKADL GCRSYTDELH AVAPL*
speed 1.59 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