Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999969310389 (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 ENST00000374765
Genbank transcript ID NM_002885
UniProt peptide P47736
alteration type single base exchange
alteration region CDS
DNA changes c.319G>A
cDNA.520G>A
g.55302G>A
AA changes A107T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 107
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      107GKEHFNYYSLDAALGHLVFSLKYD
mutated  not conserved    107GKEHFNYYSLDTALGHLVFSLKY
Ptroglodytes  not conserved  ENSPTRG00000000303  103GKEHFNYYSLDTALGHLVFSLKY
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000041351  171GKEHFNYYSLDTALGHLVFSLKY
Ggallus  not conserved  ENSGALG00000014701  107GKEHQNFYSSDVSLGYLILSVKY
Trubripes  all conserved  ENSTRUG00000014029  110GKEHFNYYSVDSVLGHLVFSLKY
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 
107109TURNlost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1992 / 1992
position (AA) of stopcodon in wt / mu AA sequence 664 / 664
position of stopcodon in wt / mu cDNA 2193 / 2193
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 202 / 202
chromosome 1
strand -1
last intron/exon boundary 2228
theoretical NMD boundary in CDS 1976
length of CDS 1992
coding sequence (CDS) position 319
cDNA position
(for ins/del: last normal base / first normal base)		 520
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 MIEKMQGSRM DEQRCSFPPP LKTEEDYIPY PSVHEVLGRE GPFPLILLPQ FGGYWIEGTN
HEITSIPETE PLQSPTTKVK LECNPTARIY RKHFLGKEHF NYYSLDAALG HLVFSLKYDV
IGDQEHLRLL LRTKCRTYHD VIPISCLTEF PNVVQMAKLV CEDVNVDRFY PVLYPKASRL
IVTFDEHVIS NNFKFGVIYQ KLGQTSEEEL FSTNEESPAF VEFLEFLGQK VKLQDFKGFR
GGLDVTHGQT GTESVYCNFR NKEIMFHVST KLPYTEGDAQ 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 MIEKMQGSRM DEQRCSFPPP LKTEEDYIPY PSVHEVLGRE GPFPLILLPQ FGGYWIEGTN
HEITSIPETE PLQSPTTKVK LECNPTARIY RKHFLGKEHF NYYSLDTALG HLVFSLKYDV
IGDQEHLRLL LRTKCRTYHD VIPISCLTEF PNVVQMAKLV CEDVNVDRFY PVLYPKASRL
IVTFDEHVIS NNFKFGVIYQ KLGQTSEEEL FSTNEESPAF VEFLEFLGQK VKLQDFKGFR
GGLDVTHGQT GTESVYCNFR NKEIMFHVST KLPYTEGDAQ 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 0.54 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