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 ENST00000544758
Genbank transcript ID N/A
UniProt peptide Q96M02
alteration type single base exchange
alteration region CDS
DNA changes c.692G>A
cDNA.722G>A
g.165712G>A
AA changes R231H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 231
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      231PPKEERPCGGPRRGFASITITARR
mutated  not conserved    231PPKEERPCGGPHRGFASITIT
Ptroglodytes  all identical  ENSPTRG00000003047  134PKEERPCGGPRRGFASITITAR
Mmulatta  all identical  ENSMMUG00000009663  193PKESH-CGGPRRGFASITITAR
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000030994  132STGDNLGKGSHSGFSSITITAR
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 
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 2391 / 2391
position (AA) of stopcodon in wt / mu AA sequence 797 / 797
position of stopcodon in wt / mu cDNA 2421 / 2421
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 31 / 31
chromosome 10
strand -1
last intron/exon boundary 2383
theoretical NMD boundary in CDS 2302
length of CDS 2391
coding sequence (CDS) position 692
cDNA position
(for ins/del: last normal base / first normal base)		 722
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 MQHSGIPTKT HPQGYAARYT ETAVHRTFQI KTFSTELKNH VMVMDFVKSN WFPSQRRAKV
CIIHMCQGLK TAEQTASRYE IHSRLFSSPK DHSAWERNES LSNAGLRDSY HSRRDQIALK
NLQSDVTEAK SDFTKETLAS QNTKMISSIV ISQMIDENKS RENRASLPLP CAIAQSRAHH
AKQSLANRSG VNIHRAFALL PGRLGIPAPS DERGPEAELP PKEERPCGGP RRGFASITIT
ARRVGPPARA LVWGTAGDSL CPKCRAEDTL FQAPPALANG AHPGRHQRSF ACTEFSRNSS
VVRLKVPEAH TGLCERRKYW VTHADDKETS FSPDTPLSGK SPLVFSSCVH LRVSQQCPDS
IYYVDKSLSV PIEPPQIASP KMHRSVLSLN LNCSSHRLTA DGVDGLVNRE PISEALKQEL
LEGDQDLVGQ RWNPGLQESH LKETPSLRRV HLGTGACPWS GSFPLENTEL ANVGANQVTV
RKGEKDHTTH CHASDHANQL SIHIPGWSYR AVHTKVFSGS SKRQQGEVCM TVSAPPVEQK
PTRHFLPIGD SSPSDDCLSR DLSEPTERRH QSFLKPRILF PGFLCPLQDV CASLQEDNGV
QIESKFPKGD YTCCDLVVKI KECKKSEDPT TPEPSPAAPS PAPRDGAGSP GLSEDCSESQ
QTPARSLTLQ EALEVRKPQF ISRSQERLKK LEHMVQQRKA QRKEDLRQKQ SLLPIRTSKK
QFTIPHPLSD NLFKPKERCI SEKEMHMRSK RIYDNLPEVK KKKEEQRKRV ILQSNRLRAE
VFKKQLLDQL LQRNAV*
mutated AA sequence MQHSGIPTKT HPQGYAARYT ETAVHRTFQI KTFSTELKNH VMVMDFVKSN WFPSQRRAKV
CIIHMCQGLK TAEQTASRYE IHSRLFSSPK DHSAWERNES LSNAGLRDSY HSRRDQIALK
NLQSDVTEAK SDFTKETLAS QNTKMISSIV ISQMIDENKS RENRASLPLP CAIAQSRAHH
AKQSLANRSG VNIHRAFALL PGRLGIPAPS DERGPEAELP PKEERPCGGP HRGFASITIT
ARRVGPPARA LVWGTAGDSL CPKCRAEDTL FQAPPALANG AHPGRHQRSF ACTEFSRNSS
VVRLKVPEAH TGLCERRKYW VTHADDKETS FSPDTPLSGK SPLVFSSCVH LRVSQQCPDS
IYYVDKSLSV PIEPPQIASP KMHRSVLSLN LNCSSHRLTA DGVDGLVNRE PISEALKQEL
LEGDQDLVGQ RWNPGLQESH LKETPSLRRV HLGTGACPWS GSFPLENTEL ANVGANQVTV
RKGEKDHTTH CHASDHANQL SIHIPGWSYR AVHTKVFSGS SKRQQGEVCM TVSAPPVEQK
PTRHFLPIGD SSPSDDCLSR DLSEPTERRH QSFLKPRILF PGFLCPLQDV CASLQEDNGV
QIESKFPKGD YTCCDLVVKI KECKKSEDPT TPEPSPAAPS PAPRDGAGSP GLSEDCSESQ
QTPARSLTLQ EALEVRKPQF ISRSQERLKK LEHMVQQRKA QRKEDLRQKQ SLLPIRTSKK
QFTIPHPLSD NLFKPKERCI SEKEMHMRSK RIYDNLPEVK KKKEEQRKRV ILQSNRLRAE
VFKKQLLDQL LQRNAV*
speed 1.67 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