Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.99999999998514 (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) chr14:73727509T>GN/A show variant in all transcripts   IGV
HGNC symbol PAPLN
Ensembl transcript ID ENST00000381166
Genbank transcript ID N/A
UniProt peptide O95428
alteration type single base exchange
alteration region CDS
DNA changes c.2078T>G
cDNA.2180T>G
g.23305T>G
AA changes M693R Score: 91 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 693
frameshift no
known variant Reference ID: rs177389
databasehomozygous (G/G)heterozygousallele carriers
1000G108711122199
ExAC18768-476913999
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.7580.067
0.6950.165
(flanking)1.120.167
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained232990.44mu: CACCGGGGGCAGGCC CCGG|gggc
distance from splice site 29
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      693TKSYGGDSTGGMPRSRAVASTVHN
mutated  not conserved    693TKSYGGDSTGGRPRSRAVASTVH
Ptroglodytes  not conserved  ENSPTRG00000006512  624TKSYGGDSTGGRPRSRAVASTVH
Mmulatta  not conserved  ENSMMUG00000020195  652TKLYGSDSTRSRPRSRAVASTVH
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000021223  709TRSHGSDNTGNRPGSRAVA
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no alignment  T19D2.1  n/a
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
693693CONFLICTM -> R (in Ref. 2; BAG57757, 5; CAD97826 and 6; BAC85123).lost
754754DISULFIDBy similarity.might get lost (downstream of altered splice site)
754804DOMAINBPTI/Kunitz inhibitor.might get lost (downstream of altered splice site)
763763DISULFIDBy similarity.might get lost (downstream of altered splice site)
779779DISULFIDBy similarity.might get lost (downstream of altered splice site)
787787DISULFIDBy similarity.might get lost (downstream of altered splice site)
800800DISULFIDBy similarity.might get lost (downstream of altered splice site)
804804DISULFIDBy similarity.might get lost (downstream of altered splice site)
900995DOMAINIg-like C2-type 1.might get lost (downstream of altered splice site)
931931DISULFIDBy similarity.might get lost (downstream of altered splice site)
978978DISULFIDBy similarity.might get lost (downstream of altered splice site)
10331128DOMAINIg-like C2-type 2.might get lost (downstream of altered splice site)
10651065DISULFIDBy similarity.might get lost (downstream of altered splice site)
11121112DISULFIDBy similarity.might get lost (downstream of altered splice site)
11331218DOMAINIg-like C2-type 3.might get lost (downstream of altered splice site)
11541154DISULFIDBy similarity.might get lost (downstream of altered splice site)
11621162CONFLICTN -> D (in Ref. 2; BAG57189).might get lost (downstream of altered splice site)
12021202DISULFIDBy similarity.might get lost (downstream of altered splice site)
12291229CONFLICTR -> K (in Ref. 5; CAD97826).might get lost (downstream of altered splice site)
12311270DOMAINPLAC.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3330 / 3330
position (AA) of stopcodon in wt / mu AA sequence 1110 / 1110
position of stopcodon in wt / mu cDNA 3432 / 3432
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 103 / 103
chromosome 14
strand 1
last intron/exon boundary 3366
theoretical NMD boundary in CDS 3213
length of CDS 3330
coding sequence (CDS) position 2078
cDNA position
(for ins/del: last normal base / first normal base)		 2180
gDNA position
(for ins/del: last normal base / first normal base)		 23305
chromosomal position
(for ins/del: last normal base / first normal base)		 73727509
original gDNA sequence snippet TGGTGACAGCACCGGGGGCATGCCCAGGTCAAGGGCAGTGG
altered gDNA sequence snippet TGGTGACAGCACCGGGGGCAGGCCCAGGTCAAGGGCAGTGG
original cDNA sequence snippet TGGTGACAGCACCGGGGGCATGCCCAGGTCAAGGGCAGTGG
altered cDNA sequence snippet TGGTGACAGCACCGGGGGCAGGCCCAGGTCAAGGGCAGTGG
wildtype AA sequence MRLLLLVPLL LAPAPGSSAP KVRRQSDTWG PWSQWSPCSR TCGGGVSFRE RPCYSQRRDG
GSSCVGPARS HRSCRTESCP DGARDFRAEQ CAEFDGAEFQ GRRYRWLPYY SAPNKCELNC
IPKGENFYYK HREAVVDGTP CEPGKRDVCV DGSCRVVGCD HELDSSKQED KCLRCGGDGT
TCYPVAGTFD ANDLSRGYNQ ILIVPMGATS ILIDEAAASR NFLAVKNVRG EYYLNGHWTI
EAARALPAAS TILHYERGAE GDLAPERLHA RGPTSEPLVI ELISQEPNPG VHYEYHLPLR
RPSPGFSWSH GSWSDCSAEC GGGHQSRLVF CTIDHEAYPD HMCQRQPRPA DRRSCNLHPC
PETKRWKAGP WAPCSASCGG GSQSRSVYCI SSDGAGIQEA VEEAECAGLP GKPPAIQACN
LQRCAAWSPE PWGECSVSCG VGVRKRSVTC RGERGSLLHT AACSLEDRPP LTEPCVHEDC
PLLSDQAWHV GTWGLCSKSC SSGTRRRQVI CAIGPPSHCG SLQHSKPVDV EPCNTQPCHL
PQEVPSMQDV HTPASNPWMP LGPQESPASD SRGQWWAAQE HPSARGDHRG ERGDPRGDQG
THLSALGPAP SLQQPPYQQP LRSGSGPHDC RHSPHGCCPD GHTASLGPQW QGCPGAPCQQ
SRYGCCPDRV SVAEGPHHAG CTKSYGGDST GGMPRSRAVA STVHNTHQPQ AQQNEPSECR
GSQFGCCYDN VATAAGPLGE GCVGQPSHAY PVRCLLPSAH GSCADWAARW YFVASVGQCN
RFWYGGCHGN ANNFASEQEC MSSCQGSLHG PRRPQPGASG RSTHTDGGGS SPAGEQEPSQ
HRTGAAVQRK PWPSGGLWRQ DQQPGPGEAP HTQAFGEWPW GQELGSRAPG LGGDAGSPAP
PFHSSSYRIS LAGVEPSLVQ AALGQLVRLS CSDDTAPESQ AAWQKDGQPI SSDRHRLQFD
GSLIIHPLQA EDAGTYSCGS TRPGRDSQKI QLRIIGGDMA VLSEAELSRF PQPRDPAQDF
GQAGAAGPLG AIPSSHPQPA NRLRLDQNQP RVVDASPGQR IRMTCRAEGF PPPAIEWQRD
GQPVSSPSTH RPAQGPWQGL RRPARAGQL*
mutated AA sequence MRLLLLVPLL LAPAPGSSAP KVRRQSDTWG PWSQWSPCSR TCGGGVSFRE RPCYSQRRDG
GSSCVGPARS HRSCRTESCP DGARDFRAEQ CAEFDGAEFQ GRRYRWLPYY SAPNKCELNC
IPKGENFYYK HREAVVDGTP CEPGKRDVCV DGSCRVVGCD HELDSSKQED KCLRCGGDGT
TCYPVAGTFD ANDLSRGYNQ ILIVPMGATS ILIDEAAASR NFLAVKNVRG EYYLNGHWTI
EAARALPAAS TILHYERGAE GDLAPERLHA RGPTSEPLVI ELISQEPNPG VHYEYHLPLR
RPSPGFSWSH GSWSDCSAEC GGGHQSRLVF CTIDHEAYPD HMCQRQPRPA DRRSCNLHPC
PETKRWKAGP WAPCSASCGG GSQSRSVYCI SSDGAGIQEA VEEAECAGLP GKPPAIQACN
LQRCAAWSPE PWGECSVSCG VGVRKRSVTC RGERGSLLHT AACSLEDRPP LTEPCVHEDC
PLLSDQAWHV GTWGLCSKSC SSGTRRRQVI CAIGPPSHCG SLQHSKPVDV EPCNTQPCHL
PQEVPSMQDV HTPASNPWMP LGPQESPASD SRGQWWAAQE HPSARGDHRG ERGDPRGDQG
THLSALGPAP SLQQPPYQQP LRSGSGPHDC RHSPHGCCPD GHTASLGPQW QGCPGAPCQQ
SRYGCCPDRV SVAEGPHHAG CTKSYGGDST GGRPRSRAVA STVHNTHQPQ AQQNEPSECR
GSQFGCCYDN VATAAGPLGE GCVGQPSHAY PVRCLLPSAH GSCADWAARW YFVASVGQCN
RFWYGGCHGN ANNFASEQEC MSSCQGSLHG PRRPQPGASG RSTHTDGGGS SPAGEQEPSQ
HRTGAAVQRK PWPSGGLWRQ DQQPGPGEAP HTQAFGEWPW GQELGSRAPG LGGDAGSPAP
PFHSSSYRIS LAGVEPSLVQ AALGQLVRLS CSDDTAPESQ AAWQKDGQPI SSDRHRLQFD
GSLIIHPLQA EDAGTYSCGS TRPGRDSQKI QLRIIGGDMA VLSEAELSRF PQPRDPAQDF
GQAGAAGPLG AIPSSHPQPA NRLRLDQNQP RVVDASPGQR IRMTCRAEGF PPPAIEWQRD
GQPVSSPSTH RPAQGPWQGL RRPARAGQL*
speed 1.01 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