Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999920394 (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 ENST00000454341
Genbank transcript ID N/A
UniProt peptide Q96M02
alteration type single base exchange
alteration region CDS
DNA changes c.401G>A
cDNA.522G>A
g.165712G>A
AA changes R134H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 134
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      134PPKEERPCGGPRRGFASITITARR
mutated  not conserved    134PPKEERPCGGPHRGFASITITAR
Ptroglodytes  all identical  ENSPTRG00000003047  134PPKEERPCGGPRRGFASITITAR
Mmulatta  all identical  ENSMMUG00000009663  193H-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).lost
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 1809 / 1809
position (AA) of stopcodon in wt / mu AA sequence 603 / 603
position of stopcodon in wt / mu cDNA 1930 / 1930
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 122 / 122
chromosome 10
strand -1
last intron/exon boundary 1892
theoretical NMD boundary in CDS 1720
length of CDS 1809
coding sequence (CDS) position 401
cDNA position
(for ins/del: last normal base / first normal base)		 522
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 MLKLSGEGLR DSYHSRRDQI ALKNLQSDVT EAKSDFTKET LASQNTKMIS SIVISQMIDE
NKSRENRASL PLPCAIAQSR AHHAKQSLAN RSGVNIHRAF ALLPGRLGIP APSDERGPEA
ELPPKEERPC GGPRRGFASI TITARRVGPP ARALVWGTAG DSLCPKCRAE DTLFQAPPAL
ANGAHPGRHQ RSFACTEFSR NSSVVRLKVP EAHTGLCERR KYWVTHADDK ETSFSPDTPL
SGKSPLVFSS CVHLRVSQQC PDSIYYVDKS LSVPIEPPQI ASPKMHRSVL SLNLNCSSHR
LTADGVDGLV NREPISEALK QELLEGDQDL VGQRWNPGLQ ESHLKETPSL RRVHLGTGAC
PWSGSFPLEN TELANVGANQ VTVRKGEKDH TTHCHASDHA NQLSIHIPGW SYRAGDYTCC
DLVVKIKECK KSEDPTTPEP SPAAPSPAPR DGAGSPGLSE DCSESQQTPA RSLTLQEALE
VRKPQFISRS QERLKKLEHM VQQRKAQRKE DLRQKQSLLP IRTSKKQFTI PHPLSDNLFK
PKERCISEKE MHMRSKRIYD NLPEVKKKKE EQRKRVILQS NRLRAEVFKK QLLDQLLQRN
AV*
mutated AA sequence MLKLSGEGLR DSYHSRRDQI ALKNLQSDVT EAKSDFTKET LASQNTKMIS SIVISQMIDE
NKSRENRASL PLPCAIAQSR AHHAKQSLAN RSGVNIHRAF ALLPGRLGIP APSDERGPEA
ELPPKEERPC GGPHRGFASI TITARRVGPP ARALVWGTAG DSLCPKCRAE DTLFQAPPAL
ANGAHPGRHQ RSFACTEFSR NSSVVRLKVP EAHTGLCERR KYWVTHADDK ETSFSPDTPL
SGKSPLVFSS CVHLRVSQQC PDSIYYVDKS LSVPIEPPQI ASPKMHRSVL SLNLNCSSHR
LTADGVDGLV NREPISEALK QELLEGDQDL VGQRWNPGLQ ESHLKETPSL RRVHLGTGAC
PWSGSFPLEN TELANVGANQ VTVRKGEKDH TTHCHASDHA NQLSIHIPGW SYRAGDYTCC
DLVVKIKECK KSEDPTTPEP SPAAPSPAPR DGAGSPGLSE DCSESQQTPA RSLTLQEALE
VRKPQFISRS QERLKKLEHM VQQRKAQRKE DLRQKQSLLP IRTSKKQFTI PHPLSDNLFK
PKERCISEKE MHMRSKRIYD NLPEVKKKKE EQRKRVILQS NRLRAEVFKK QLLDQLLQRN
AV*
speed 0.72 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