Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999972501247 (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
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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 ENST00000374763
Genbank transcript ID N/A
UniProt peptide P47736
alteration type single base exchange
alteration region CDS
DNA changes c.412G>A
cDNA.517G>A
g.55302G>A
AA changes A138T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 138
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      138GKEHFNYYSLDAALGHLVFSLKYD
mutated  not conserved    138GKEHFNYYSLDTALGHLVFSLKY
Ptroglodytes  not conserved  ENSPTRG00000000303  103GKEHFNYYSLDTALGHLVFSLKY
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000041351  171DTALGHLVFSLKY
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
start (aa)end (aa)featuredetails 
137143STRANDlost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2082 / 2082
position (AA) of stopcodon in wt / mu AA sequence 694 / 694
position of stopcodon in wt / mu cDNA 2187 / 2187
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 106 / 106
chromosome 1
strand -1
last intron/exon boundary 2222
theoretical NMD boundary in CDS 2066
length of CDS 2082
coding sequence (CDS) position 412
cDNA position
(for ins/del: last normal base / first normal base)		 517
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 MAQLRPAVPP GRPRRGSLPA GASWQNTDLF EMIEKMQGSR MDEQRCSFPP PLKTEEDYIP
YPSVHEVLGR EGPFPLILLP QFGGYWIEGT NHEITSIPET EPLQSPTTKV KLECNPTARI
YRKHFLGKEH FNYYSLDAAL GHLVFSLKYD VIGDQEHLRL LLRTKCRTYH DVIPISCLTE
FPNVVQMAKL VCEDVNVDRF YPVLYPKASR LIVTFDEHVI SNNFKFGVIY QKLGQTSEEE
LFSTNEESPA FVEFLEFLGQ KVKLQDFKGF RGGLDVTHGQ TGTESVYCNF RNKEIMFHVS
TKLPYTEGDA QLQRKRHIGN DIVAVVFQDE NTPFVPDMIA SNFLHAYVVV QAEGGGPDGP
LYKVSVTARD DVPFFGPPLP DPAVFRKGPE FQEFLLTKLI NAEYACYKAE KFAKLEERTR
AALLETLYEE LHIHSQSMMG LGGDEDKMEN GSGGGGFFES FKRVIRSRSQ SMDAMGLSNK
KPNTVSTSHS GSFAPNNPDL AKAAGISLIV PGKSPTRKKS GPFGSRRSSA IGIENIQEVQ
EKRESPPAGQ KTPDSGHVSQ EPKSENSSTQ SSPEMPTTKN RAETAAQRAE ALKDFSRSSS
SASSFASVVE ETEGVDGEDT GLESVSSSGT PHKRDSFIYS TWLEDSVSTT SGGSSPGPSR
SPHPDAGKLG DPACPEIKIQ LEASEQHMPQ LGC*
mutated AA sequence MAQLRPAVPP GRPRRGSLPA GASWQNTDLF EMIEKMQGSR MDEQRCSFPP PLKTEEDYIP
YPSVHEVLGR EGPFPLILLP QFGGYWIEGT NHEITSIPET EPLQSPTTKV KLECNPTARI
YRKHFLGKEH FNYYSLDTAL GHLVFSLKYD VIGDQEHLRL LLRTKCRTYH DVIPISCLTE
FPNVVQMAKL VCEDVNVDRF YPVLYPKASR LIVTFDEHVI SNNFKFGVIY QKLGQTSEEE
LFSTNEESPA FVEFLEFLGQ KVKLQDFKGF RGGLDVTHGQ TGTESVYCNF RNKEIMFHVS
TKLPYTEGDA QLQRKRHIGN DIVAVVFQDE NTPFVPDMIA SNFLHAYVVV QAEGGGPDGP
LYKVSVTARD DVPFFGPPLP DPAVFRKGPE FQEFLLTKLI NAEYACYKAE KFAKLEERTR
AALLETLYEE LHIHSQSMMG LGGDEDKMEN GSGGGGFFES FKRVIRSRSQ SMDAMGLSNK
KPNTVSTSHS GSFAPNNPDL AKAAGISLIV PGKSPTRKKS GPFGSRRSSA IGIENIQEVQ
EKRESPPAGQ KTPDSGHVSQ EPKSENSSTQ SSPEMPTTKN RAETAAQRAE ALKDFSRSSS
SASSFASVVE ETEGVDGEDT GLESVSSSGT PHKRDSFIYS TWLEDSVSTT SGGSSPGPSR
SPHPDAGKLG DPACPEIKIQ LEASEQHMPQ LGC*
speed 0.94 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