Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999993928404 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:21940555C>TN/A show variant in all transcripts   IGV
HGNC symbol RAP1GAP
Ensembl transcript ID ENST00000290101
Genbank transcript ID NM_001145658
UniProt peptide P47736
alteration type single base exchange
alteration region CDS
DNA changes c.511G>A
cDNA.544G>A
g.55302G>A
AA changes A171T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 171
frameshift no
known variant Reference ID: rs2275363
databasehomozygous (T/T)heterozygousallele carriers
1000G39811721570
ExAC96811340523086
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.8410.163
-0.6130.143
(flanking)1.0780.808
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 28
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      171GKEHFNYYSLDAALGHLVFSLKYD
mutated  not conserved    171GKEHFNYYSLDTALGHLVFSL
Ptroglodytes  not conserved  ENSPTRG00000000303  103GKEHFNYYSLDTALGHLVFSLKY
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000041351  171GKEHFNYYSLDTALGHLVFSL
Ggallus  not conserved  ENSGALG00000014701  107GKEHQNFYSSDVSLGYLILSVKY
Trubripes  all conserved  ENSTRUG00000014029  110GKEHFNYYSVDSVLGHLVFS
Drerio  all conserved  ENSDARG00000056554  107GKEHFNYYTVDSALGHLVFSMKY
Dmelanogaster  not conserved  FBgn0085403  330AREHSNLIGLDEQLGPILLSIKT
Celegans  not conserved  F53A10.2  278GREHHDFFANDPIVGPLVLSVRT
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2184 / 2184
position (AA) of stopcodon in wt / mu AA sequence 728 / 728
position of stopcodon in wt / mu cDNA 2217 / 2217
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 34 / 34
chromosome 1
strand -1
last intron/exon boundary 2252
theoretical NMD boundary in CDS 2168
length of CDS 2184
coding sequence (CDS) position 511
cDNA position
(for ins/del: last normal base / first normal base)		 544
gDNA position
(for ins/del: last normal base / first normal base)		 55302
chromosomal position
(for ins/del: last normal base / first normal base)		 21940555
original gDNA sequence snippet TCAATTACTACTCACTGGACGCTGCCCTCGGCCACCTTGTC
altered gDNA sequence snippet TCAATTACTACTCACTGGACACTGCCCTCGGCCACCTTGTC
original cDNA sequence snippet TCAATTACTACTCACTGGACGCTGCCCTCGGCCACCTTGTC
altered cDNA sequence snippet TCAATTACTACTCACTGGACACTGCCCTCGGCCACCTTGTC
wildtype AA sequence MSGRKRSFTF GAYGGVDKSF TSRRSVWRSD GQNQHFPQAL DLSRVNLVPS YTPSLYPKNT
DLFEMIEKMQ GSRMDEQRCS FPPPLKTEED YIPYPSVHEV LGREGPFPLI LLPQFGGYWI
EGTNHEITSI PETEPLQSPT TKVKLECNPT ARIYRKHFLG KEHFNYYSLD AALGHLVFSL
KYDVIGDQEH LRLLLRTKCR TYHDVIPISC LTEFPNVVQM AKLVCEDVNV DRFYPVLYPK
ASRLIVTFDE HVISNNFKFG VIYQKLGQTS EEELFSTNEE SPAFVEFLEF LGQKVKLQDF
KGFRGGLDVT HGQTGTESVY CNFRNKEIMF HVSTKLPYTE GDAQQLQRKR HIGNDIVAVV
FQDENTPFVP DMIASNFLHA YVVVQAEGGG PDGPLYKVSV TARDDVPFFG PPLPDPAVFR
KGPEFQEFLL TKLINAEYAC YKAEKFAKLE ERTRAALLET LYEELHIHSQ SMMGLGGDED
KMENGSGGGG FFESFKRVIR SRSQSMDAMG LSNKKPNTVS TSHSGSFAPN NPDLAKAAGI
SLIVPGKSPT RKKSGPFGSR RSSAIGIENI QEVQEKRESP PAGQKTPDSG HVSQEPKSEN
SSTQSSPEMP TTKNRAETAA QRAEALKDFS RSSSSASSFA SVVEETEGVD GEDTGLESVS
SSGTPHKRDS FIYSTWLEDS VSTTSGGSSP GPSRSPHPDA GKLGDPACPE IKIQLEASEQ
HMPQLGC*
mutated AA sequence MSGRKRSFTF GAYGGVDKSF TSRRSVWRSD GQNQHFPQAL DLSRVNLVPS YTPSLYPKNT
DLFEMIEKMQ GSRMDEQRCS FPPPLKTEED YIPYPSVHEV LGREGPFPLI LLPQFGGYWI
EGTNHEITSI PETEPLQSPT TKVKLECNPT ARIYRKHFLG KEHFNYYSLD TALGHLVFSL
KYDVIGDQEH LRLLLRTKCR TYHDVIPISC LTEFPNVVQM AKLVCEDVNV DRFYPVLYPK
ASRLIVTFDE HVISNNFKFG VIYQKLGQTS EEELFSTNEE SPAFVEFLEF LGQKVKLQDF
KGFRGGLDVT HGQTGTESVY CNFRNKEIMF HVSTKLPYTE GDAQQLQRKR HIGNDIVAVV
FQDENTPFVP DMIASNFLHA YVVVQAEGGG PDGPLYKVSV TARDDVPFFG PPLPDPAVFR
KGPEFQEFLL TKLINAEYAC YKAEKFAKLE ERTRAALLET LYEELHIHSQ SMMGLGGDED
KMENGSGGGG FFESFKRVIR SRSQSMDAMG LSNKKPNTVS TSHSGSFAPN NPDLAKAAGI
SLIVPGKSPT RKKSGPFGSR RSSAIGIENI QEVQEKRESP PAGQKTPDSG HVSQEPKSEN
SSTQSSPEMP TTKNRAETAA QRAEALKDFS RSSSSASSFA SVVEETEGVD GEDTGLESVS
SSGTPHKRDS FIYSTWLEDS VSTTSGGSSP GPSRSPHPDA GKLGDPACPE IKIQLEASEQ
HMPQLGC*
speed 0.22 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