Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999888177862468 (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
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr20:34219496T>CN/A show variant in all transcripts   IGV
HGNC symbol CPNE1
Ensembl transcript ID ENST00000317677
Genbank transcript ID NM_003915
UniProt peptide Q99829
alteration type single base exchange
alteration region CDS
DNA changes c.647A>G
cDNA.782A>G
g.33383A>G
AA changes Q216R Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 216
frameshift no
known variant Reference ID: rs6579255
databasehomozygous (C/C)heterozygousallele carriers
1000G2279081135
ExAC34692001323482
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.2590.968
1.80.998
(flanking)3.751
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased33382wt: 0.38 / mu: 0.69wt: ACACACCTTTCCCTCAGGTGCAATGCTCCGATTATGACAGT
mu: ACACACCTTTCCCTCAGGTGCGATGCTCCGATTATGACAGT		 gtgc|AATG
Acc marginally increased33377wt: 0.6003 / mu: 0.6567 (marginal change - not scored)wt: TCCACACACACCTTTCCCTCAGGTGCAATGCTCCGATTATG
mu: TCCACACACACCTTTCCCTCAGGTGCGATGCTCCGATTATG		 ctca|GGTG
Donor increased33377wt: 0.47 / mu: 0.87wt: CCCTCAGGTGCAATG
mu: CCCTCAGGTGCGATG		 CTCA|ggtg
distance from splice site 5
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      216CGGNPSTPIQVQCSDYDSDGSHDL
mutated  all conserved    216CGGNPSTPIQVRCSDYDSDGSHD
Ptroglodytes  all conserved  ENSPTRG00000040708  19CGGNPSTPIQVRCSDYDSDGSHD
Mmulatta  all conserved  ENSMMUG00000020960  208CGGDPSTPIEVRCSDYDSDGSHD
Fcatus  no homologue    
Mmusculus  no alignment  ENSMUSG00000074643  n/a
Ggallus  all identical  ENSGALG00000001627  222CGGDLNKPIKVQCSDHDSDGSHD
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000075536  213CNGDLNKPIKVECFDYDSDGSHD
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000007428  212CGGDMNKPIKVSVSDHDDSSDFD
protein features
start (aa)end (aa)featuredetails 
144228DOMAINC2 2.lost
285505DOMAINVWFA.might get lost (downstream of altered splice site)
332339CONFLICTSDKLFPAF -> NSARAARV (in Ref. 6; AAG49297).might get lost (downstream of altered splice site)
367367CONFLICTA -> V (in Ref. 2; CAG33071).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1629 / 1629
position (AA) of stopcodon in wt / mu AA sequence 543 / 543
position of stopcodon in wt / mu cDNA 1764 / 1764
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 136 / 136
chromosome 20
strand -1
last intron/exon boundary 1624
theoretical NMD boundary in CDS 1438
length of CDS 1629
coding sequence (CDS) position 647
cDNA position
(for ins/del: last normal base / first normal base)		 782
gDNA position
(for ins/del: last normal base / first normal base)		 33383
chromosomal position
(for ins/del: last normal base / first normal base)		 34219496
original gDNA sequence snippet CACACCTTTCCCTCAGGTGCAATGCTCCGATTATGACAGTG
altered gDNA sequence snippet CACACCTTTCCCTCAGGTGCGATGCTCCGATTATGACAGTG
original cDNA sequence snippet CAGCACACCCATCCAGGTGCAATGCTCCGATTATGACAGTG
altered cDNA sequence snippet CAGCACACCCATCCAGGTGCGATGCTCCGATTATGACAGTG
wildtype AA sequence MKMMHMAHCV TLVQLSISCD HLIDKDIGSK SDPLCVLLQD VGGGSWAELG RTERVRNCSS
PEFSKTLQLE YRFETVQKLR FGIYDIDNKT PELRDDDFLG GAECSLGQIV SSQVLTLPLM
LKPGKPAGRG TITVSAQELK DNRVVTMEVE ARNLDKKDFL GKSDPFLEFF RQGDGKWHLV
YRSEVIKNNL NPTWKRFSVP VQHFCGGNPS TPIQVQCSDY DSDGSHDLIG TFHTSLAQLQ
AVPAEFECIH PEKQQKKKSY KNSGTIRVKI CRVETEYSFL DYVMGGCQIN FTVGVDFTGS
NGDPSSPDSL HYLSPTGVNE YLMALWSVGS VVQDYDSDKL FPAFGFGAQV PPDWQVSHEF
ALNFNPSNPY CAGIQGIVDA YRQALPQVRL YGPTNFAPII NHVARFAAQA AHQGTASQYF
MLLLLTDGAV TDVEATREAV VRASNLPMSV IIVGVGGADF EAMEQLDADG GPLHTRSGQA
AARDIVQFVP YRRFQNAPRE ALAQTVLAEV PTQLVSYFRA QGWAPLKPLP PSAKDPAQAP
QA*
mutated AA sequence MKMMHMAHCV TLVQLSISCD HLIDKDIGSK SDPLCVLLQD VGGGSWAELG RTERVRNCSS
PEFSKTLQLE YRFETVQKLR FGIYDIDNKT PELRDDDFLG GAECSLGQIV SSQVLTLPLM
LKPGKPAGRG TITVSAQELK DNRVVTMEVE ARNLDKKDFL GKSDPFLEFF RQGDGKWHLV
YRSEVIKNNL NPTWKRFSVP VQHFCGGNPS TPIQVRCSDY DSDGSHDLIG TFHTSLAQLQ
AVPAEFECIH PEKQQKKKSY KNSGTIRVKI CRVETEYSFL DYVMGGCQIN FTVGVDFTGS
NGDPSSPDSL HYLSPTGVNE YLMALWSVGS VVQDYDSDKL FPAFGFGAQV PPDWQVSHEF
ALNFNPSNPY CAGIQGIVDA YRQALPQVRL YGPTNFAPII NHVARFAAQA AHQGTASQYF
MLLLLTDGAV TDVEATREAV VRASNLPMSV IIVGVGGADF EAMEQLDADG GPLHTRSGQA
AARDIVQFVP YRRFQNAPRE ALAQTVLAEV PTQLVSYFRA QGWAPLKPLP PSAKDPAQAP
QA*
speed 0.67 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