Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.0420440114609666 (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
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:3728609G>AN/A show variant in all transcripts   IGV
HGNC symbol TJP3
Ensembl transcript ID ENST00000382008
Genbank transcript ID N/A
UniProt peptide O95049
alteration type single base exchange
alteration region CDS
DNA changes c.56G>A
cDNA.239G>A
g.20503G>A
AA changes R19H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 19
frameshift no
known variant Reference ID: rs2067019
databasehomozygous (A/A)heterozygousallele carriers
1000G2429561198
ExAC39412071324654
regulatory features Promoter Associated, Regulatory Feature, Promoter like regulatory feature
Max, Transcription Factor, Max TF binding
E2F6, Transcription Factor, E2F6 Transcription Factor Binding
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)2.8270.995
2.0170.992
(flanking)-0.1170.909
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased20506wt: 0.52 / mu: 0.59wt: CCTCTCTCAGGACCCCCGCCGGGGCTTTGGCATTGCGATCT
mu: CCTCTCTCAGGACCCCCACCGGGGCTTTGGCATTGCGATCT		 gccg|GGGC
Acc marginally decreased20495wt: 0.9733 / mu: 0.9640 (marginal change - not scored)wt: CTTCCCCTCATCCTCTCTCAGGACCCCCGCCGGGGCTTTGG
mu: CTTCCCCTCATCCTCTCTCAGGACCCCCACCGGGGCTTTGG		 tcag|GACC
Donor gained205030.31mu: CCCCCACCGGGGCTT CCCA|ccgg
distance from splice site 8
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      19EQHTATLSKDPRRGFGIAISGGRD
mutated  not conserved    19EQHTATLSKDPHRGFGIAISGGR
Ptroglodytes  all identical  ENSPTRG00000010274  38EQHTATLSKDPRRGFGIAISGGR
Mmulatta  no alignment  ENSMMUG00000028930  n/a
Fcatus  all identical  ENSFCAG00000007142  37EQHTATLCKDPRRGFGIAISGGR
Mmusculus  all identical  ENSMUSG00000034917  19EQHTATLYKDPRRGFGIAVSGGH
Ggallus  not conserved  ENSGALG00000000748  38EQHTVTLSKDPHRGFGFAVSGGR
Trubripes  all conserved  ENSTRUG00000018210  38EQHTITLSKDPKFGFGFAISGGK
Drerio  not conserved  ENSDARG00000002909  180TTLIKKKPTDEYGMKL----
Dmelanogaster  not conserved  FBgn0262614  31EYHTVAVTRVPGYGFGIAVSGGR
Celegans  not conserved  Y105E8A.26  53QLLSVSLHRAANLGFGIAISGGR
Xtropicalis  all identical  ENSXETG00000006407  19EQYTVTLIRDPRRGFGIAISGGR
protein features
start (aa)end (aa)featuredetails 
1193DOMAINPDZ 1.lost
1919CONFLICTR -> H (in Ref. 3; AAI08907).lost
112112MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
159159MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
164164MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
169169MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
195272DOMAINPDZ 2.might get lost (downstream of altered splice site)
203203MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
394460DOMAINPDZ 3.might get lost (downstream of altered splice site)
489563DOMAINSH3.might get lost (downstream of altered splice site)
492496STRANDmight get lost (downstream of altered splice site)
504507STRANDmight get lost (downstream of altered splice site)
515520STRANDmight get lost (downstream of altered splice site)
536541STRANDmight get lost (downstream of altered splice site)
547553STRANDmight get lost (downstream of altered splice site)
556569HELIXmight get lost (downstream of altered splice site)
579579MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
594775DOMAINGuanylate kinase-like.might get lost (downstream of altered splice site)
605605MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
610616HELIXmight get lost (downstream of altered splice site)
620628STRANDmight get lost (downstream of altered splice site)
635639STRANDmight get lost (downstream of altered splice site)
642652HELIXmight get lost (downstream of altered splice site)
654656TURNmight get lost (downstream of altered splice site)
657659STRANDmight get lost (downstream of altered splice site)
675683HELIXmight get lost (downstream of altered splice site)
687690STRANDmight get lost (downstream of altered splice site)
694702HELIXmight get lost (downstream of altered splice site)
708715STRANDmight get lost (downstream of altered splice site)
717727HELIXmight get lost (downstream of altered splice site)
735749HELIXmight get lost (downstream of altered splice site)
750752HELIXmight get lost (downstream of altered splice site)
754759STRANDmight get lost (downstream of altered splice site)
761763STRANDmight get lost (downstream of altered splice site)
765777HELIXmight get lost (downstream of altered splice site)
780785STRANDmight get lost (downstream of altered splice site)
919919MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
920920MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2802 / 2802
position (AA) of stopcodon in wt / mu AA sequence 934 / 934
position of stopcodon in wt / mu cDNA 2985 / 2985
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 184 / 184
chromosome 19
strand 1
last intron/exon boundary 2883
theoretical NMD boundary in CDS 2649
length of CDS 2802
coding sequence (CDS) position 56
cDNA position
(for ins/del: last normal base / first normal base)		 239
gDNA position
(for ins/del: last normal base / first normal base)		 20503
chromosomal position
(for ins/del: last normal base / first normal base)		 3728609
original gDNA sequence snippet CATCCTCTCTCAGGACCCCCGCCGGGGCTTTGGCATTGCGA
altered gDNA sequence snippet CATCCTCTCTCAGGACCCCCACCGGGGCTTTGGCATTGCGA
original cDNA sequence snippet CACACTGTCCAAGGACCCCCGCCGGGGCTTTGGCATTGCGA
altered cDNA sequence snippet CACACTGTCCAAGGACCCCCACCGGGGCTTTGGCATTGCGA
wildtype AA sequence MEELTIWEQH TATLSKDPRR GFGIAISGGR DRPGGSMVVS DVVPGGPAEG RLQTGDHIVM
VNGVSMENAT SAFAIQILKT CTKMANITVK RPRRIHLPAT KASPSSPGRQ DSDEDDGPQR
VEEVDQGRGY DGDSSSGSGR SWDERSRRPR PGRRGRAGSH GRRSPGGGSE ANGLALVSGF
KRLPRQDVQM KPVKSVLVKR RDSEEFGVKL GSQIFIKHIT DSGLAARHRG LQEGDLILQI
NGVSSQNLSL NDTRRLIEKS EGKLSLLVLR DRGQFLVNIP PAVSDSDSSP LEEGVTMADE
MSSPPADISD LASELSQAPP SHIPPPPRHA QRSPEASQTD SPVESPRLRR ESSVDSRTIS
EPDEQRSELP RESSYDIYRV PSSQSMEDRG YSPDTRVVRF LKGKSIGLRL AGGNDVGIFV
SGVQAGSPAD GQGIQEGDQI LQVNDVPFQN LTREEAVQFL LGLPPGEEME LVTQRKQDIF
WKMVQSRVGD SFYIRTHFEL EPSPPSGLGF TRGDVFHVLD TLHPGPGQSH ARGGHWLAVR
MGRDLREQER GIIPNQSRAE QLASLEAAQR AVGVGPGSSA GSNARAEFWR LRGLRRGAKK
TTQRSREDLS ALTRQGRYPP YERVVLREAS FKRPVVILGP VADIAMQKLT AEMPDQFEIA
ETVSRTDSPS KIIKLDTVRV IAEKDKHALL DVTPSAIERL NYVQYYPIVV FFIPESRPAL
KALRQWLAPA SRRSTRRLYA QAQKLRKHSS HLFTATIPLN GTSDTWYQEL KAIIREQQTR
PIWTAEDQLD GSLEDNLDLP HHGLADSSAD LSCDSRVNSD YETDGEGGAY TDGEGYTDGE
GGPYTDVDDE PPAPALARSS EPVQADESQS PRDRGRISAH QGAQVDSRHP QGQWRQDSMR
TYEREALKKK FMRVHDAESS DEDGYDWGPA TDL*
mutated AA sequence MEELTIWEQH TATLSKDPHR GFGIAISGGR DRPGGSMVVS DVVPGGPAEG RLQTGDHIVM
VNGVSMENAT SAFAIQILKT CTKMANITVK RPRRIHLPAT KASPSSPGRQ DSDEDDGPQR
VEEVDQGRGY DGDSSSGSGR SWDERSRRPR PGRRGRAGSH GRRSPGGGSE ANGLALVSGF
KRLPRQDVQM KPVKSVLVKR RDSEEFGVKL GSQIFIKHIT DSGLAARHRG LQEGDLILQI
NGVSSQNLSL NDTRRLIEKS EGKLSLLVLR DRGQFLVNIP PAVSDSDSSP LEEGVTMADE
MSSPPADISD LASELSQAPP SHIPPPPRHA QRSPEASQTD SPVESPRLRR ESSVDSRTIS
EPDEQRSELP RESSYDIYRV PSSQSMEDRG YSPDTRVVRF LKGKSIGLRL AGGNDVGIFV
SGVQAGSPAD GQGIQEGDQI LQVNDVPFQN LTREEAVQFL LGLPPGEEME LVTQRKQDIF
WKMVQSRVGD SFYIRTHFEL EPSPPSGLGF TRGDVFHVLD TLHPGPGQSH ARGGHWLAVR
MGRDLREQER GIIPNQSRAE QLASLEAAQR AVGVGPGSSA GSNARAEFWR LRGLRRGAKK
TTQRSREDLS ALTRQGRYPP YERVVLREAS FKRPVVILGP VADIAMQKLT AEMPDQFEIA
ETVSRTDSPS KIIKLDTVRV IAEKDKHALL DVTPSAIERL NYVQYYPIVV FFIPESRPAL
KALRQWLAPA SRRSTRRLYA QAQKLRKHSS HLFTATIPLN GTSDTWYQEL KAIIREQQTR
PIWTAEDQLD GSLEDNLDLP HHGLADSSAD LSCDSRVNSD YETDGEGGAY TDGEGYTDGE
GGPYTDVDDE PPAPALARSS EPVQADESQS PRDRGRISAH QGAQVDSRHP QGQWRQDSMR
TYEREALKKK FMRVHDAESS DEDGYDWGPA TDL*
speed 1.36 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