Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999915235491978 (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) chr9:33941759T>CN/A show variant in all transcripts   IGV
HGNC symbol UBAP2
Ensembl transcript ID ENST00000418786
Genbank transcript ID N/A
UniProt peptide Q5T6F2
alteration type single base exchange
alteration region CDS
DNA changes c.1658A>G
cDNA.1751A>G
g.107189A>G
AA changes N553S Score: 46 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 553
frameshift no
known variant Reference ID: rs307658
databasehomozygous (C/C)heterozygousallele carriers
1000G38710831470
ExAC89801480723787
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.8691
2.0021
(flanking)3.7651
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased107197wt: 0.61 / mu: 0.68wt: GCTCATCACTGAATTCTGCTAGTCCAGTAGCAATGTCTTCC
mu: GCTCATCACTGAGTTCTGCTAGTCCAGTAGCAATGTCTTCC		 gcta|GTCC
Donor gained1071830.74mu: CTCATCACTGAGTTC CATC|actg
distance from splice site 102
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      553ITSCSLTSSSLNSASPVAMSSSYD
mutated  all conserved    553ITSCSLTSSSLSSASPVAMSSSY
Ptroglodytes  all conserved  ENSPTRG00000020871  606TSSSLSSASPVAMSSSY
Mmulatta  all conserved  ENSMMUG00000012597  574ITSCSLTSSSLSSASPVATSSSY
Fcatus  all conserved  ENSFCAG00000009693  606ITSSSLTSSSLSSTSPVTTSSSY
Mmusculus  all conserved  ENSMUSG00000028433  607TLTSSALSSTSPVTTSSSY
Ggallus  not conserved  ENSGALG00000013809  607LTCSS-QSTSPVTTTSSY
Trubripes  not conserved  ENSTRUG00000015263  621VAPASSNSSSVPSSSHFSTVGGSY
Drerio  all conserved  ENSDARG00000088318  611ATAPSSSSSSSSSSAASSAGNSF
Dmelanogaster  all identical  FBgn0020279  676------ISDALNAA
Celegans  all identical  R119.4  401SSAASISNASENIFNS
Xtropicalis  not conserved  ENSXETG00000002157  601SLSSSS-QSTSPVTATSSSSSSY
protein features
start (aa)end (aa)featuredetails 
633633MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
839839MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
840840MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
862862MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2061 / 2061
position (AA) of stopcodon in wt / mu AA sequence 687 / 687
position of stopcodon in wt / mu cDNA 2154 / 2154
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 94 / 94
chromosome 9
strand -1
last intron/exon boundary 2043
theoretical NMD boundary in CDS 1899
length of CDS 2061
coding sequence (CDS) position 1658
cDNA position
(for ins/del: last normal base / first normal base)		 1751
gDNA position
(for ins/del: last normal base / first normal base)		 107189
chromosomal position
(for ins/del: last normal base / first normal base)		 33941759
original gDNA sequence snippet TCTGACAAGCTCATCACTGAATTCTGCTAGTCCAGTAGCAA
altered gDNA sequence snippet TCTGACAAGCTCATCACTGAGTTCTGCTAGTCCAGTAGCAA
original cDNA sequence snippet TCTGACAAGCTCATCACTGAATTCTGCTAGTCCAGTAGCAA
altered cDNA sequence snippet TCTGACAAGCTCATCACTGAGTTCTGCTAGTCCAGTAGCAA
wildtype AA sequence MMTSVSSDHC RGAREKPQIS AAQSTQPQKQ VVQATAEQMR LAQVIFDKND SDFEAKVKQL
MEVTGKNQDE CIVALHDCNG DVNKAINILL EGNSDTTSWE TVGCKKKNFA KENSENKENR
EKKSEKESSR GRGNNNRKGR GGNRGREFRG EENGIDCNQV DKPSDRGKRA RGRELASNTH
NIAQDLSNKS SYGLKGAWKN SVEEWTTEDW TEDLSETKVF TASSAPAENH ILPGQSIDLV
ALLQKPVPHS QASEANSFET SQQQGFGQAL VFTNSQHNNQ MAPGTGSSTA VNSCSPQSLS
SVLGSGFGEL APPKMANITS SQILDQLKAP SLGQFTTTPS TQQNSTSHPT TTTSWDLKPP
TSQSSVLSHL DFKSQPEPSP VLSQLSQRQQ HQSQAVTVPP PGLESFPSQA KLRESTPGDS
PSTVNKLLQL PSTTIENISV SVHQPQPKHI KLAKRRIPPA SKIPASAVEM PGSADVTGLN
VQFGALEFGS EPSLSEFGSA PSSENSNQIP ISLYSKSLSE PLNTSLSMTS AVQNSTYTTS
VITSCSLTSS SLNSASPVAM SSSYDQSSVH NRIPYQSPVS SSESAPGTIM NGHGGGRSQQ
TLDTPKTTGP PSALPSVSSL PSTTSCTALL PSTSQHTGDL TSSPLSQLSS MPVWRAPLPT
SPQPPSPRQR PPSQVPHPQA PACPVA*
mutated AA sequence MMTSVSSDHC RGAREKPQIS AAQSTQPQKQ VVQATAEQMR LAQVIFDKND SDFEAKVKQL
MEVTGKNQDE CIVALHDCNG DVNKAINILL EGNSDTTSWE TVGCKKKNFA KENSENKENR
EKKSEKESSR GRGNNNRKGR GGNRGREFRG EENGIDCNQV DKPSDRGKRA RGRELASNTH
NIAQDLSNKS SYGLKGAWKN SVEEWTTEDW TEDLSETKVF TASSAPAENH ILPGQSIDLV
ALLQKPVPHS QASEANSFET SQQQGFGQAL VFTNSQHNNQ MAPGTGSSTA VNSCSPQSLS
SVLGSGFGEL APPKMANITS SQILDQLKAP SLGQFTTTPS TQQNSTSHPT TTTSWDLKPP
TSQSSVLSHL DFKSQPEPSP VLSQLSQRQQ HQSQAVTVPP PGLESFPSQA KLRESTPGDS
PSTVNKLLQL PSTTIENISV SVHQPQPKHI KLAKRRIPPA SKIPASAVEM PGSADVTGLN
VQFGALEFGS EPSLSEFGSA PSSENSNQIP ISLYSKSLSE PLNTSLSMTS AVQNSTYTTS
VITSCSLTSS SLSSASPVAM SSSYDQSSVH NRIPYQSPVS SSESAPGTIM NGHGGGRSQQ
TLDTPKTTGP PSALPSVSSL PSTTSCTALL PSTSQHTGDL TSSPLSQLSS MPVWRAPLPT
SPQPPSPRQR PPSQVPHPQA PACPVA*
speed 0.60 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