Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999379938 (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 CM056992)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:33272855G>CN/A show variant in all transcripts   IGV
HGNC symbol TAPBP
Ensembl transcript ID ENST00000426633
Genbank transcript ID NM_172208
UniProt peptide O15533
alteration type single base exchange
alteration region CDS
DNA changes c.779C>G
cDNA.950C>G
g.9310C>G
AA changes T260R Score: 71 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 260
frameshift no
known variant Reference ID: rs2071888
databasehomozygous (C/C)heterozygousallele carriers
1000G91711272044
ExAC20032-729712735

known disease mutation at this position, please check HGMD for details (HGMD ID CM056992)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
PolII, Polymerase, RNA Polymerase II
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.3720.356
0.8210.372
(flanking)0.3240.372
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc gained93090.33mu: ATGGGACCTTCTGGCTGCCTAGAGTTCAACCCTTTCAGGAG ccta|GAGT
Donor gained93040.63mu: CTGGCTGCCTAGAGT GGCT|gcct
Donor gained93060.89mu: GGCTGCCTAGAGTTC CTGC|ctag
distance from splice site 90
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      260PWTGNGTFWLPTVQPFQEGTYLAT
mutated  not conserved    260PWTGNGTFWLPRVQPFQEGTYLA
Ptroglodytes  not conserved  ENSPTRG00000018043  260PWTGNGTFWLPRVQPFQEGTYLA
Mmulatta  not conserved  ENSMMUG00000003875  260PWTGNGTFWLPRVQPFQEGTYLA
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000024308  263PWTGNGTFWLPAVKPSQEGVYLA
Ggallus  not conserved  ENSGALG00000008022  246TLRLAQPSPGDEGTYIC
Trubripes  not conserved  ENSTRUG00000003327  260--RGNASLILQKAEVHHSGMYIC
Drerio  not conserved  ENSDARG00000079402  263YQTGNVSLILEESQVRHSGTYIC
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
21414TOPO_DOMLumenal (Potential).lost
250258STRANDmight get lost (downstream of altered splice site)
263265HELIXmight get lost (downstream of altered splice site)
267275STRANDmight get lost (downstream of altered splice site)
274274CONFLICTH -> Y (in Ref. 10; AAH80574).might get lost (downstream of altered splice site)
278290STRANDmight get lost (downstream of altered splice site)
292399DOMAINIg-like C1-type.might get lost (downstream of altered splice site)
293300STRANDmight get lost (downstream of altered splice site)
313323STRANDmight get lost (downstream of altered splice site)
315315DISULFIDmight get lost (downstream of altered splice site)
327337STRANDmight get lost (downstream of altered splice site)
345349STRANDmight get lost (downstream of altered splice site)
360367STRANDmight get lost (downstream of altered splice site)
373375HELIXmight get lost (downstream of altered splice site)
379385STRANDmight get lost (downstream of altered splice site)
382382DISULFIDmight get lost (downstream of altered splice site)
394399STRANDmight get lost (downstream of altered splice site)
412412CONFLICTD -> N (in Ref. 7; AAD32924).might get lost (downstream of altered splice site)
415435TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
428428SITEMay be involved in interaction with TAP.might get lost (downstream of altered splice site)
436448TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1515 / 1515
position (AA) of stopcodon in wt / mu AA sequence 505 / 505
position of stopcodon in wt / mu cDNA 1686 / 1686
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 172 / 172
chromosome 6
strand -1
last intron/exon boundary 1472
theoretical NMD boundary in CDS 1250
length of CDS 1515
coding sequence (CDS) position 779
cDNA position
(for ins/del: last normal base / first normal base)		 950
gDNA position
(for ins/del: last normal base / first normal base)		 9310
chromosomal position
(for ins/del: last normal base / first normal base)		 33272855
original gDNA sequence snippet TGGGACCTTCTGGCTGCCTACAGTTCAACCCTTTCAGGAGG
altered gDNA sequence snippet TGGGACCTTCTGGCTGCCTAGAGTTCAACCCTTTCAGGAGG
original cDNA sequence snippet TGGGACCTTCTGGCTGCCTACAGTTCAACCCTTTCAGGAGG
altered cDNA sequence snippet TGGGACCTTCTGGCTGCCTAGAGTTCAACCCTTTCAGGAGG
wildtype AA sequence MKSLSLLLAV ALGLATAVSA GPAVIECWFV EDASGKGLAK RPGALLLRQG PGEPPPRPDL
DPELYLSVHD PAGALQAAFR RYPRGAPAPH CEMSRFVPLP ASAKWASGLT PAQNCPRALD
GAWLMVSISS PVLSLSSLLR PQPEPQQEPV LITMATVVLT VLTHTPAPRV RLGQDALLDL
SFAYMPPTSE AASSLAPGPP PFGLEWRRQH LGKGHLLLAA TPGLNGQMPA AQEGAVAFAA
WDDDEPWGPW TGNGTFWLPT VQPFQEGTYL ATIHLPYLQG QVTLELAVYK PPKVSLMPAT
LARAAPGEAP PELLCLVSHF YPSGGLEVEW ELRGGPGGRS QKAEGQRWLS ALRHHSDGSV
SLSGHLQPPP VTTEQHGARY ACRIHHPSLP ASGRSAEVTL EVAGLSGPSL EDSVGLFLSA
FLLLGLFKAL GWAAVYLSTC KDSKKVQCST SLYLSLVTLS PHPISKPMEG GCWCGRQNLG
LEFTLIWVKT WHYILTVGLF EHAT*
mutated AA sequence MKSLSLLLAV ALGLATAVSA GPAVIECWFV EDASGKGLAK RPGALLLRQG PGEPPPRPDL
DPELYLSVHD PAGALQAAFR RYPRGAPAPH CEMSRFVPLP ASAKWASGLT PAQNCPRALD
GAWLMVSISS PVLSLSSLLR PQPEPQQEPV LITMATVVLT VLTHTPAPRV RLGQDALLDL
SFAYMPPTSE AASSLAPGPP PFGLEWRRQH LGKGHLLLAA TPGLNGQMPA AQEGAVAFAA
WDDDEPWGPW TGNGTFWLPR VQPFQEGTYL ATIHLPYLQG QVTLELAVYK PPKVSLMPAT
LARAAPGEAP PELLCLVSHF YPSGGLEVEW ELRGGPGGRS QKAEGQRWLS ALRHHSDGSV
SLSGHLQPPP VTTEQHGARY ACRIHHPSLP ASGRSAEVTL EVAGLSGPSL EDSVGLFLSA
FLLLGLFKAL GWAAVYLSTC KDSKKVQCST SLYLSLVTLS PHPISKPMEG GCWCGRQNLG
LEFTLIWVKT WHYILTVGLF EHAT*
speed 0.99 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