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 ENST00000397445
Genbank transcript ID NM_152927
UniProt peptide Q99829
alteration type single base exchange
alteration region CDS
DNA changes c.632A>G
cDNA.884A>G
g.33383A>G
AA changes Q211R Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 211
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      211CGGNPSTPIQVQCSDYDSDGSHDL
mutated  all conserved    211CGGNPSTPIQVRCSDYDSDGSHD
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 1614 / 1614
position (AA) of stopcodon in wt / mu AA sequence 538 / 538
position of stopcodon in wt / mu cDNA 1866 / 1866
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 253 / 253
chromosome 20
strand -1
last intron/exon boundary 1726
theoretical NMD boundary in CDS 1423
length of CDS 1614
coding sequence (CDS) position 632
cDNA position
(for ins/del: last normal base / first normal base)		 884
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 MAHCVTLVQL SISCDHLIDK DIGSKSDPLC VLLQDVGGGS WAELGRTERV RNCSSPEFSK
TLQLEYRFET VQKLRFGIYD IDNKTPELRD DDFLGGAECS LGQIVSSQVL TLPLMLKPGK
PAGRGTITVS AQELKDNRVV TMEVEARNLD KKDFLGKSDP FLEFFRQGDG KWHLVYRSEV
IKNNLNPTWK RFSVPVQHFC GGNPSTPIQV QCSDYDSDGS HDLIGTFHTS LAQLQAVPAE
FECIHPEKQQ KKKSYKNSGT IRVKICRVET EYSFLDYVMG GCQINFTVGV DFTGSNGDPS
SPDSLHYLSP TGVNEYLMAL WSVGSVVQDY DSDKLFPAFG FGAQVPPDWQ VSHEFALNFN
PSNPYCAGIQ GIVDAYRQAL PQVRLYGPTN FAPIINHVAR FAAQAAHQGT ASQYFMLLLL
TDGAVTDVEA TREAVVRASN LPMSVIIVGV GGADFEAMEQ LDADGGPLHT RSGQAAARDI
VQFVPYRRFQ NAPREALAQT VLAEVPTQLV SYFRAQGWAP LKPLPPSAKD PAQAPQA*
mutated AA sequence MAHCVTLVQL SISCDHLIDK DIGSKSDPLC VLLQDVGGGS WAELGRTERV RNCSSPEFSK
TLQLEYRFET VQKLRFGIYD IDNKTPELRD DDFLGGAECS LGQIVSSQVL TLPLMLKPGK
PAGRGTITVS AQELKDNRVV TMEVEARNLD KKDFLGKSDP FLEFFRQGDG KWHLVYRSEV
IKNNLNPTWK RFSVPVQHFC GGNPSTPIQV RCSDYDSDGS HDLIGTFHTS LAQLQAVPAE
FECIHPEKQQ KKKSYKNSGT IRVKICRVET EYSFLDYVMG GCQINFTVGV DFTGSNGDPS
SPDSLHYLSP TGVNEYLMAL WSVGSVVQDY DSDKLFPAFG FGAQVPPDWQ VSHEFALNFN
PSNPYCAGIQ GIVDAYRQAL PQVRLYGPTN FAPIINHVAR FAAQAAHQGT ASQYFMLLLL
TDGAVTDVEA TREAVVRASN LPMSVIIVGV GGADFEAMEQ LDADGGPLHT RSGQAAARDI
VQFVPYRRFQ NAPREALAQT VLAEVPTQLV SYFRAQGWAP LKPLPPSAKD PAQAPQA*
speed 0.89 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