Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999978248883 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • splice site changes
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analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:9871030T>GN/A show variant in all transcripts   IGV
HGNC symbol ARPC4-TTLL3
Ensembl transcript ID ENST00000397256
Genbank transcript ID NM_001198793
UniProt peptide N/A
alteration type single base exchange
alteration region CDS
DNA changes c.1688T>G
cDNA.1696T>G
g.36233T>G
AA changes M563R Score: 91 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 563
frameshift no
known variant Reference ID: rs2290305
databasehomozygous (G/G)heterozygousallele carriers
1000G67610611737
ExAC23140-135139627
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.4510.44
1.6980.425
(flanking)0.3550.16
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased36226wt: 0.32 / mu: 0.41wt: ACACCCTGCGCGTGGTCATTGACCGGATGCTGGACCGCAAC
mu: ACACCCTGCGCGTGGTCATTGACCGGAGGCTGGACCGCAAC		 attg|ACCG
Donor gained362270.97mu: CATTGACCGGAGGCT TTGA|ccgg
distance from splice site 50
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      563QADTLRVVIDRMLDRNCDTGAFEL
mutated  not conserved    563QADTLRVVIDRRLDRNCDTGAFE
Ptroglodytes  not conserved  ENSPTRG00000034246  502QADTLRVVIDRRLDRNCDTGAFE
Mmulatta  not conserved  ENSMMUG00000004539  502QADTLRVVIDRRLDHNCDTGAFE
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000030276  696LRVVIDRRLDRSCDTGAFE
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000053728  576QEDTLRVVLDRRSERNTDTGGFQ
Dmelanogaster  not conserved  FBgn0031854  637LEDVVKVVIDRRTDPKAELGNFE
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000023542  551QEDTLRIVLDRKLDRNCDIGAFE
protein features N/A
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1878 / 1878
position (AA) of stopcodon in wt / mu AA sequence 626 / 626
position of stopcodon in wt / mu cDNA 1886 / 1886
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 9 / 9
chromosome 3
strand 1
last intron/exon boundary 1746
theoretical NMD boundary in CDS 1687
length of CDS 1878
coding sequence (CDS) position 1688
cDNA position
(for ins/del: last normal base / first normal base)		 1696
gDNA position
(for ins/del: last normal base / first normal base)		 36233
chromosomal position
(for ins/del: last normal base / first normal base)		 9871030
original gDNA sequence snippet GCGCGTGGTCATTGACCGGATGCTGGACCGCAACTGTGACA
altered gDNA sequence snippet GCGCGTGGTCATTGACCGGAGGCTGGACCGCAACTGTGACA
original cDNA sequence snippet GCGCGTGGTCATTGACCGGATGCTGGACCGCAACTGTGACA
altered cDNA sequence snippet GCGCGTGGTCATTGACCGGAGGCTGGACCGCAACTGTGACA
wildtype AA sequence MTATLRPYLS AVRATLQAAL CLENFSSQVV ERHNKPEVEV RSSKELLLQP VTISRNEKEK
VLIEGSINSV RVSIAVKQAD EIEKILCHKF MRFMMMRAEN FFILRRKPVE QKKIFTIQGC
YPVIRCLLRR RGWVEKKMVH RSGPTLLPPQ KDLDSSAMGD SDTTEDEDED EDEEFQPSQL
FDFDDLLKFD DLDGTHALMV GLCLNLRNLP WFDEVDANSF FPRCYCLGAE DDKKAFIGDK
QPKKQEKNPV LVSPEFVDEA LCACEEYLSN LAHMDIDKDL EAPLYLTPEG WSLFLQRYYQ
VVHEGAELRH LDTQVQRCED ILQQLQAVVP QIDMEGDRNI WIVKPGAKSR GRGIMCMDHL
EEMLKLVNGN PVVMKDGKWV VQKYIERPLL IFGTKFDLRQ WFLVTDWNPL TVWFYRDSYI
RFSTQPFSLK NLDNSVHLCN NSIQKHLENS CHRHPLLPPD NMWSSQRFQA HLQEMGAPNA
WSTIIVPGMK DAVIHALQTS QDTVQCRKAS FELYGADFVF GEDFQPWLIE INASPTMAPS
TAVTARLCAG VQADTLRVVI DRMLDRNCDT GAFELIYKQP VTTSPASTPR PSCLLPMYSD
TRARSSDDST ASWWALRPCR PQARP*
mutated AA sequence MTATLRPYLS AVRATLQAAL CLENFSSQVV ERHNKPEVEV RSSKELLLQP VTISRNEKEK
VLIEGSINSV RVSIAVKQAD EIEKILCHKF MRFMMMRAEN FFILRRKPVE QKKIFTIQGC
YPVIRCLLRR RGWVEKKMVH RSGPTLLPPQ KDLDSSAMGD SDTTEDEDED EDEEFQPSQL
FDFDDLLKFD DLDGTHALMV GLCLNLRNLP WFDEVDANSF FPRCYCLGAE DDKKAFIGDK
QPKKQEKNPV LVSPEFVDEA LCACEEYLSN LAHMDIDKDL EAPLYLTPEG WSLFLQRYYQ
VVHEGAELRH LDTQVQRCED ILQQLQAVVP QIDMEGDRNI WIVKPGAKSR GRGIMCMDHL
EEMLKLVNGN PVVMKDGKWV VQKYIERPLL IFGTKFDLRQ WFLVTDWNPL TVWFYRDSYI
RFSTQPFSLK NLDNSVHLCN NSIQKHLENS CHRHPLLPPD NMWSSQRFQA HLQEMGAPNA
WSTIIVPGMK DAVIHALQTS QDTVQCRKAS FELYGADFVF GEDFQPWLIE INASPTMAPS
TAVTARLCAG VQADTLRVVI DRRLDRNCDT GAFELIYKQP VTTSPASTPR PSCLLPMYSD
TRARSSDDST ASWWALRPCR PQARP*
speed 0.69 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