Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.99999999998524 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:30314567C>AN/A show variant in all transcripts   IGV
HGNC symbol RPP21
Ensembl transcript ID ENST00000442966
Genbank transcript ID NM_024839
UniProt peptide Q9H633
alteration type single base exchange
alteration region CDS
DNA changes c.445C>A
cDNA.458C>A
g.1660C>A
AA changes Q149K Score: 53 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 149
frameshift no
known variant Reference ID: rs974963
databasehomozygous (A/A)heterozygousallele carriers
1000G36311401503
ExAC57592124927008
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0110
0.920.001
(flanking)-0.9680
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased1655wt: 0.34 / mu: 0.42wt: AATGCAGACTCAGGG
mu: AATGCAGACTAAGGG		 TGCA|gact
Donor marginally increased1657wt: 0.5616 / mu: 0.6297 (marginal change - not scored)wt: TGCAGACTCAGGGTT
mu: TGCAGACTAAGGGTT		 CAGA|ctca
Donor gained16560.95mu: ATGCAGACTAAGGGT GCAG|acta
distance from splice site 68
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      149SDRLPEEKMQTQGSSNQ*
mutated  all conserved    149SDRLPEEKMQTKGSSNQ
Ptroglodytes  all identical  ENSPTRG00000017924  172SDCLPEEKMQTQGSSNQ
Mmulatta  all identical  ENSMMUG00000011680  171SDHLPEEKMQIQGSSDQ
Fcatus  all conserved  ENSFCAG00000002035  170LAHLCEEKVQHESSSHQ
Mmusculus  all identical  ENSMUSG00000024446  149---LPKENIQTQ
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000043404  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no alignment  ENSXETG00000026230  n/a
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 465 / 465
position (AA) of stopcodon in wt / mu AA sequence 155 / 155
position of stopcodon in wt / mu cDNA 478 / 478
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 14 / 14
chromosome 6
strand 1
last intron/exon boundary 381
theoretical NMD boundary in CDS 317
length of CDS 465
coding sequence (CDS) position 445
cDNA position
(for ins/del: last normal base / first normal base)		 458
gDNA position
(for ins/del: last normal base / first normal base)		 1660
chromosomal position
(for ins/del: last normal base / first normal base)		 30314567
original gDNA sequence snippet CTGAGGAGAAAATGCAGACTCAGGGTTCCAGTAACCAGTGA
altered gDNA sequence snippet CTGAGGAGAAAATGCAGACTAAGGGTTCCAGTAACCAGTGA
original cDNA sequence snippet CTGAGGAGAAAATGCAGACTCAGGGTTCCAGTAACCAGTGA
altered cDNA sequence snippet CTGAGGAGAAAATGCAGACTAAGGGTTCCAGTAACCAGTGA
wildtype AA sequence MAGPVKDREA FQRLNFLYQA AHCVLAQDPE NQALARFYCY TERTIAKRLV LRRDPSVKRT
LCRGCSSLLV PGLTCTQRQR RCRGQRWTVQ TCLTCQRSQR FLNDPGHLLW GDRPEAQLGS
QADSKPLQPL PNTAHSISDR LPEEKMQTQG SSNQ*
mutated AA sequence MAGPVKDREA FQRLNFLYQA AHCVLAQDPE NQALARFYCY TERTIAKRLV LRRDPSVKRT
LCRGCSSLLV PGLTCTQRQR RCRGQRWTVQ TCLTCQRSQR FLNDPGHLLW GDRPEAQLGS
QADSKPLQPL PNTAHSISDR LPEEKMQTKG SSNQ*
speed 0.97 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