Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999994038 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM993667)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr16:27374180T>CN/A show variant in all transcripts   IGV
HGNC symbol IL4R
Ensembl transcript ID ENST00000543915
Genbank transcript ID NM_001257406
UniProt peptide P24394
alteration type single base exchange
alteration region CDS
DNA changes c.1507T>C
cDNA.1620T>C
g.49192T>C
AA changes S503P Score: 74 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 503
frameshift no
known variant Reference ID: rs1805015
databasehomozygous (C/C)heterozygousallele carriers
1000G172666838
ExAC19781586417842

known disease mutation at this position, please check HGMD for details (HGMD ID CM993667)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.3690
0.2990
(flanking)-0.6950
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased49193wt: 0.62 / mu: 0.91wt: CAACTCCCTGAGCCA
mu: CAACCCCCTGAGCCA		 ACTC|cctg
distance from splice site 608
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      503AGNPAYRSFSNSLSQSPCPRELGP
mutated  not conserved    503AGNPAYRSFSNPLSQSPCPRELG
Ptroglodytes  all identical  ENSPTRG00000007913  503AGNPAYRSFSNSLSQSPCPRELG
Mmulatta  all identical  ENSMMUG00000004666  503SSNPAYRSFSNSLSQSPCPRELG
Fcatus  not conserved  ENSFCAG00000009923  479TDNPAYRSFGTFQGRSSGPGECD
Mmusculus  not conserved  ENSMUSG00000030748  506ADNPAYRSFSDCCSPAPNPGELA
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
257825TOPO_DOMCytoplasmic (Potential).lost
437557REGIONRequired for IRS1 activation and IL4- induced cell growth.lost
558657REGIONRequired for IL4-induced gene expression.might get lost (downstream of altered splice site)
563566COMPBIASPoly-Ala.might get lost (downstream of altered splice site)
575575MOD_RESPhosphotyrosine (Probable).might get lost (downstream of altered splice site)
575575MUTAGENY->F: Loss of CD23 gene induction; when associated with F-603 and F-631.might get lost (downstream of altered splice site)
603603MOD_RESPhosphotyrosine (Probable).might get lost (downstream of altered splice site)
603603MUTAGENY->F: Loss of CD23 gene induction; when associated with F-575 and F-631.might get lost (downstream of altered splice site)
631631MUTAGENY->F: Loss of CD23 gene induction; when associated with F-575 and F-603.might get lost (downstream of altered splice site)
631631MOD_RESPhosphotyrosine (Probable).might get lost (downstream of altered splice site)
711716MOTIFITIM motif.might get lost (downstream of altered splice site)
713713MUTAGENY->F: Increased IL4-induced cell proliferation and STAT6 activation.might get lost (downstream of altered splice site)
789794COMPBIASPoly-Ser.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2478 / 2478
position (AA) of stopcodon in wt / mu AA sequence 826 / 826
position of stopcodon in wt / mu cDNA 2591 / 2591
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 114 / 114
chromosome 16
strand 1
last intron/exon boundary 1013
theoretical NMD boundary in CDS 849
length of CDS 2478
coding sequence (CDS) position 1507
cDNA position
(for ins/del: last normal base / first normal base)		 1620
gDNA position
(for ins/del: last normal base / first normal base)		 49192
chromosomal position
(for ins/del: last normal base / first normal base)		 27374180
original gDNA sequence snippet CTTACCGCAGCTTCAGCAACTCCCTGAGCCAGTCACCGTGT
altered gDNA sequence snippet CTTACCGCAGCTTCAGCAACCCCCTGAGCCAGTCACCGTGT
original cDNA sequence snippet CTTACCGCAGCTTCAGCAACTCCCTGAGCCAGTCACCGTGT
altered cDNA sequence snippet CTTACCGCAGCTTCAGCAACCCCCTGAGCCAGTCACCGTGT
wildtype AA sequence MGWLCSGLLF PVSCLVLLQV ASSGNMKVLQ EPTCVSDYMS ISTCEWKMNG PTNCSTELRL
LYQLVFLLSE AHTCIPENNG GAGCVCHLLM DDVVSADNYT LDLWAGQQLL WKGSFKPSEH
VKPRAPGNLT VHTNVSDTLL LTWSNPYPPD NYLYNHLTYA VNIWSENDPA DFRIYNVTYL
EPSLRIAAST LKSGISYRAR VRAWAQCYNT TWSEWSPSTK WHNSYREPFE QHLLLGVSVS
CIVILAVCLL CYVSITKIKK EWWDQIPNPA RSRLVAIIIQ DAQGSQWEKR SRGQEPAKCP
HWKNCLTKLL PCFLEHNMKR DEDPHKAAKE MPFQGSGKSA WCPVEISKTV LWPESISVVR
CVELFEAPVE CEEEEEVEEE KGSFCASPES SRDDFQEGRE GIVARLTESL FLDLLGEENG
GFCQQDMGES CLLPPSGSTS AHMPWDEFPS AGPKEAPPWG KEQPLHLEPS PPASPTQSPD
NLTCTETPLV IAGNPAYRSF SNSLSQSPCP RELGPDPLLA RHLEEVEPEM PCVPQLSEPT
TVPQPEPETW EQILRRNVLQ HGAAAAPVSA PTSGYQEFVH AVEQGGTQAS AVVGLGPPGE
AGYKAFSSLL ASSAVSPEKC GFGASSGEEG YKPFQDLIPG CPGDPAPVPV PLFTFGLDRE
PPRSPQSSHL PSSSPEHLGL EPGEKVEDMP KPPLPQEQAT DPLVDSLGSG IVYSALTCHL
CGHLKQCHGQ EDGGQTPVMA SPCCGCCCGD RSSPPTTPLR APDPSPGGVP LEASLCPASL
APSGISEKSK SSSSFHPAPG NAQSSSQTPK IVNFVSVGPT YMRVS*
mutated AA sequence MGWLCSGLLF PVSCLVLLQV ASSGNMKVLQ EPTCVSDYMS ISTCEWKMNG PTNCSTELRL
LYQLVFLLSE AHTCIPENNG GAGCVCHLLM DDVVSADNYT LDLWAGQQLL WKGSFKPSEH
VKPRAPGNLT VHTNVSDTLL LTWSNPYPPD NYLYNHLTYA VNIWSENDPA DFRIYNVTYL
EPSLRIAAST LKSGISYRAR VRAWAQCYNT TWSEWSPSTK WHNSYREPFE QHLLLGVSVS
CIVILAVCLL CYVSITKIKK EWWDQIPNPA RSRLVAIIIQ DAQGSQWEKR SRGQEPAKCP
HWKNCLTKLL PCFLEHNMKR DEDPHKAAKE MPFQGSGKSA WCPVEISKTV LWPESISVVR
CVELFEAPVE CEEEEEVEEE KGSFCASPES SRDDFQEGRE GIVARLTESL FLDLLGEENG
GFCQQDMGES CLLPPSGSTS AHMPWDEFPS AGPKEAPPWG KEQPLHLEPS PPASPTQSPD
NLTCTETPLV IAGNPAYRSF SNPLSQSPCP RELGPDPLLA RHLEEVEPEM PCVPQLSEPT
TVPQPEPETW EQILRRNVLQ HGAAAAPVSA PTSGYQEFVH AVEQGGTQAS AVVGLGPPGE
AGYKAFSSLL ASSAVSPEKC GFGASSGEEG YKPFQDLIPG CPGDPAPVPV PLFTFGLDRE
PPRSPQSSHL PSSSPEHLGL EPGEKVEDMP KPPLPQEQAT DPLVDSLGSG IVYSALTCHL
CGHLKQCHGQ EDGGQTPVMA SPCCGCCCGD RSSPPTTPLR APDPSPGGVP LEASLCPASL
APSGISEKSK SSSSFHPAPG NAQSSSQTPK IVNFVSVGPT YMRVS*
speed 0.75 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