Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.0306243448041009 (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 ENST00000296318
Genbank transcript ID NM_017563
UniProt peptide Q8NFM7
alteration type single base exchange
alteration region CDS
DNA changes c.901G>A
cDNA.990G>A
g.67750G>A
AA changes V301M Score: 21 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 301
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      301VHSPWAGPIRAVAITVPLVVISAF
mutated  all conserved    301MAITVPLVVISA
Ptroglodytes  all identical  ENSPTRG00000015043  259VHSPWAGPIRAVAITVPLVVISA
Mmulatta  all identical  ENSMMUG00000016602  301VAITVPLVVISA
Fcatus  no alignment  ENSFCAG00000003575  n/a
Mmusculus  all identical  ENSMUSG00000040717  301VAITVPLVVISA
Ggallus  all conserved  ENSGALG00000005499  303RAIAITVPLVVISA
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 
300320TRANSMEMHelical; (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2220 / 2220
position (AA) of stopcodon in wt / mu AA sequence 740 / 740
position of stopcodon in wt / mu cDNA 2309 / 2309
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 90 / 90
chromosome 3
strand -1
last intron/exon boundary 2197
theoretical NMD boundary in CDS 2057
length of CDS 2220
coding sequence (CDS) position 901
cDNA position
(for ins/del: last normal base / first normal base)		 990
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 MAPWLQLCSV FFTVNACLNG SQLAVAAGGS GRARGADTCG WRGVGPASRN SGLYNITFKY
DNCTTYLNPV GKHVIADAQN ITISQYACHD QVAVTILWSP GALGIEFLKG FRVILEELKS
EGRQCQQLIL KDPKQLNSSF KRTGMESQPF LNMKFETDYF VKVVPFPSIK NESNYHPFFF
RTRACDLLLQ PDNLACKPFW KPRNLNISQH GSDMQVSFDH APHNFGFRFF YLHYKLKHEG
PFKRKTCKQE QTTETTSCLL QNVSPGDYII ELVDDTNTTR KVMHYALKPV HSPWAGPIRA
VAITVPLVVI SAFATLFTVM CRKKQQENIY SHLDEESSES STYTAALPRE RLRPRPKVFL
CYSSKDGQNH MNVVQCFAYF LQDFCGCEVA LDLWEDFSLC REGQREWVIQ KIHESQFIIV
VCSKGMKYFV DKKNYKHKGG GRGSGKGELF LVAVSAIAEK LRQAKQSSSA ALSKFIAVYF
DYSCEGDVPG ILDLSTKYRL MDNLPQLCSH LHSRDHGLQE PGQHTRQGSR RNYFRSKSGR
SLYVAICNMH QFIDEEPDWF EKQFVPFHPP PLRYREPVLE KFDSGLVLND VMCKPGPESD
FCLKVEAAVL GATGPADSQH ESQHGGLDQD GEARPALDGS AALQPLLHTV KAGSPSDMPR
DSGIYDSSVP SSELSLPLME GLSTDQTETS SLTESVSSSS GLGEEEPPAL PSKLLSSGSC
KADLGCRSYT DELHAVAPL*
mutated AA sequence MAPWLQLCSV FFTVNACLNG SQLAVAAGGS GRARGADTCG WRGVGPASRN SGLYNITFKY
DNCTTYLNPV GKHVIADAQN ITISQYACHD QVAVTILWSP GALGIEFLKG FRVILEELKS
EGRQCQQLIL KDPKQLNSSF KRTGMESQPF LNMKFETDYF VKVVPFPSIK NESNYHPFFF
RTRACDLLLQ PDNLACKPFW KPRNLNISQH GSDMQVSFDH APHNFGFRFF YLHYKLKHEG
PFKRKTCKQE QTTETTSCLL QNVSPGDYII ELVDDTNTTR KVMHYALKPV HSPWAGPIRA
MAITVPLVVI SAFATLFTVM CRKKQQENIY SHLDEESSES STYTAALPRE RLRPRPKVFL
CYSSKDGQNH MNVVQCFAYF LQDFCGCEVA LDLWEDFSLC REGQREWVIQ KIHESQFIIV
VCSKGMKYFV DKKNYKHKGG GRGSGKGELF LVAVSAIAEK LRQAKQSSSA ALSKFIAVYF
DYSCEGDVPG ILDLSTKYRL MDNLPQLCSH LHSRDHGLQE PGQHTRQGSR RNYFRSKSGR
SLYVAICNMH QFIDEEPDWF EKQFVPFHPP PLRYREPVLE KFDSGLVLND VMCKPGPESD
FCLKVEAAVL GATGPADSQH ESQHGGLDQD GEARPALDGS AALQPLLHTV KAGSPSDMPR
DSGIYDSSVP SSELSLPLME GLSTDQTETS SLTESVSSSS GLGEEEPPAL PSKLLSSGSC
KADLGCRSYT DELHAVAPL*
speed 1.24 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