Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999938863 (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) chr10:128193368C>TN/A show variant in all transcripts   IGV
HGNC symbol C10orf90
Ensembl transcript ID ENST00000368674
Genbank transcript ID N/A
UniProt peptide Q96M02
alteration type single base exchange
alteration region CDS
DNA changes c.260G>A
cDNA.1018G>A
g.165712G>A
AA changes R87H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 87
frameshift no
known variant Reference ID: rs11245008
databasehomozygous (T/T)heterozygousallele carriers
1000G169739908
ExAC16761379215468
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.3140
-2.830
(flanking)0.0260
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained1657120.67mu: CCCCCACAGAGGGTT CCCA|caga
distance from splice site 287
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      87PPKEERPCGGPRRGFASITITARR
mutated  not conserved    87PPKEERPCGGPHRGFASITITAR
Ptroglodytes  all identical  ENSPTRG00000003047  134PPKEERPCGGPRRGFASITITAR
Mmulatta  all identical  ENSMMUG00000009663  193PPKESH-CGGPRRGFASITITAR
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000030994  132LSTGDNLGKGSHSGFSSITITAR
Ggallus  all identical  ENSGALG00000009741  97PVADGKQ-RRKRKGFASITITAR
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
116224REGIONRequired for interaction with HDAC1 (By similarity).might get lost (downstream of altered splice site)
571699REGIONALMS motif (By similarity).might get lost (downstream of altered splice site)
654654CONFLICTR -> G (in Ref. 3; BAB71512).might get lost (downstream of altered splice site)
663666COMPBIASPoly-Lys.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1152 / 1152
position (AA) of stopcodon in wt / mu AA sequence 384 / 384
position of stopcodon in wt / mu cDNA 1910 / 1910
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 759 / 759
chromosome 10
strand -1
last intron/exon boundary 1861
theoretical NMD boundary in CDS 1052
length of CDS 1152
coding sequence (CDS) position 260
cDNA position
(for ins/del: last normal base / first normal base)		 1018
gDNA position
(for ins/del: last normal base / first normal base)		 165712
chromosomal position
(for ins/del: last normal base / first normal base)		 128193368
original gDNA sequence snippet GAGACCCTGTGGGGGCCCCCGCAGAGGGTTTGCATCCATCA
altered gDNA sequence snippet GAGACCCTGTGGGGGCCCCCACAGAGGGTTTGCATCCATCA
original cDNA sequence snippet GAGACCCTGTGGGGGCCCCCGCAGAGGGTTTGCATCCATCA
altered cDNA sequence snippet GAGACCCTGTGGGGGCCCCCACAGAGGGTTTGCATCCATCA
wildtype AA sequence MISSIVISQM IDENKSRENR ASLPLPCAIA QSRAHHAKQS LANRSGVNIH RAFALLPGRL
GIPAPSDERG PEAELPPKEE RPCGGPRRGF ASITITARRV GPPARALVWG TAGDSLCPKC
RAEDTLFQAP PALANGAHPG RHQRSFACTE FSRNSSVVRL KVPEAHTGLC ERRKYWVTHA
DDKETSFSPD TPLSGKSPLV FSSCVHLRVS QQCPDSIYYV DKSLSVPIEP PQIASPKMHR
SVLSLNLNCS SHRLTADGVD GLVNREPISE ALKQELLEGD QDLVGQRWNP GLQESHLKET
PSLRRVHLGT GACPWSGSFP LENTELANVG ANQVTVRKGE KDHTTHCHAS DHANQLSIHI
PGWSYRADLL QEGQHKQLSM FQR*
mutated AA sequence MISSIVISQM IDENKSRENR ASLPLPCAIA QSRAHHAKQS LANRSGVNIH RAFALLPGRL
GIPAPSDERG PEAELPPKEE RPCGGPHRGF ASITITARRV GPPARALVWG TAGDSLCPKC
RAEDTLFQAP PALANGAHPG RHQRSFACTE FSRNSSVVRL KVPEAHTGLC ERRKYWVTHA
DDKETSFSPD TPLSGKSPLV FSSCVHLRVS QQCPDSIYYV DKSLSVPIEP PQIASPKMHR
SVLSLNLNCS SHRLTADGVD GLVNREPISE ALKQELLEGD QDLVGQRWNP GLQESHLKET
PSLRRVHLGT GACPWSGSFP LENTELANVG ANQVTVRKGE KDHTTHCHAS DHANQLSIHI
PGWSYRADLL QEGQHKQLSM FQR*
speed 0.97 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