Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999440534400307 (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) chr8:95188850T>CN/A show variant in all transcripts   IGV
HGNC symbol CDH17
Ensembl transcript ID ENST00000441892
Genbank transcript ID N/A
UniProt peptide Q12864
alteration type single base exchange
alteration region CDS
DNA changes c.343A>G
cDNA.436A>G
g.40682A>G
AA changes K115E Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 115
frameshift no
known variant Reference ID: rs2243518
databasehomozygous (C/C)heterozygousallele carriers
1000G16367462382
ExAC---
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.6120.858
0.5410.857
(flanking)0.0510.86
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained406760.65mu: CTATCACCATAGAAG ATCA|ccat
Donor gained406810.97mu: ACCATAGAAGTGAAG CATA|gaag
distance from splice site 58
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      115IIVEGPVPITIKVKDINDNRPTFL
mutated  all conserved    115IIVEGPVPITIEVKDIN
Ptroglodytes  all identical  ENSPTRG00000020425  329KPLSYPLEIHVKVKDINDNPPTC
Mmulatta  all identical  ENSMMUG00000020010  329KPLSYPLEIHVKVQDINDNPPTC
Fcatus  all conserved  ENSFCAG00000015508  115ATVEGPVPITIEVKDIND
Mmusculus  all identical  ENSMUSG00000028217  328KPLAYPLEIYVKVIDINDNPPTC
Ggallus  not conserved  ENSGALG00000015947  328ELVDKPLKINIIVEDINDNPPVC
Trubripes  not conserved  ENSTRUG00000010271  380NDVDPPMEIVILVEDVNDNAP--
Drerio  not conserved  ENSDARG00000005112  379VELEKPMEIPVLVQDVNDNPPIC
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000014682  321LFASSPLTIEVNVEDINDNPPVC
protein features
start (aa)end (aa)featuredetails 
23787TOPO_DOMExtracellular (Potential).lost
30128DOMAINCadherin 1.lost
129244DOMAINCadherin 2.might get lost (downstream of altered splice site)
149149CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
184184CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
245340DOMAINCadherin 3.might get lost (downstream of altered splice site)
250250CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
341449DOMAINCadherin 4.might get lost (downstream of altered splice site)
419419CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
450566DOMAINCadherin 5.might get lost (downstream of altered splice site)
456456CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
546546CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
548548MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
567667DOMAINCadherin 6.might get lost (downstream of altered splice site)
587587CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
668777DOMAINCadherin 7.might get lost (downstream of altered splice site)
722722CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
788808TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
809832TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1743 / 1743
position (AA) of stopcodon in wt / mu AA sequence 581 / 581
position of stopcodon in wt / mu cDNA 1836 / 1836
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 94 / 94
chromosome 8
strand -1
last intron/exon boundary 1736
theoretical NMD boundary in CDS 1592
length of CDS 1743
coding sequence (CDS) position 343
cDNA position
(for ins/del: last normal base / first normal base)		 436
gDNA position
(for ins/del: last normal base / first normal base)		 40682
chromosomal position
(for ins/del: last normal base / first normal base)		 95188850
original gDNA sequence snippet GTCCAGTCCCTATCACCATAAAAGTGAAGGACATCAACGAC
altered gDNA sequence snippet GTCCAGTCCCTATCACCATAGAAGTGAAGGACATCAACGAC
original cDNA sequence snippet GTCCAGTCCCTATCACCATAAAAGTGAAGGACATCAACGAC
altered cDNA sequence snippet GTCCAGTCCCTATCACCATAGAAGTGAAGGACATCAACGAC
wildtype AA sequence MILQAHLHSL CLLMLYLATG YGQEGKFSGP LKPMTFSIYE GQEPSQIIFQ FKANPPAVTF
ELTGETDNIF VIEREGLLYY NRALDRETRS THNLQVAALD ANGIIVEGPV PITIKVKDIN
DNRPTFLQSK YEGSVRQNSR PGNSIGTLTA HDRDEENTAN SFLNYRIVEQ TPKLPMDGLF
LIQTYAGMLQ LAKQSLKKQD TPQYNLTIEV SDKDFKTLCF VQINVIDIND QIPIFEKSDY
GNLTLAEDTN IGSTILTIQA TDADEPFTGS SKILYHIIKG DSEGRLGVDT DPHTNTGYVI
IKKPLDFETA AVSNIVFKAE NPEPLVFGVK YNASSFAKFT LIVTDVNEAP QFSQHVFQAK
VSEDVAIGTK VGNVTAKDPE GLDISYSLRG DTRGWLKIDH VTGEIFSVAP LDREAGSPYR
VQVVATEVGG SSLSSVSEFH LILMDVNDNP PRLAKDYTGL FFCHPLSAPG SLIFEATDDD
QHLFRGPHFT FSLGSGSLQN DWEVSKINGT HARLSTRHTE FEEREYVVLI RINDGGRPPL
EGIVSLPGII LAVVFIRIKK DKGKDNVESA QASEVKPLRS *
mutated AA sequence MILQAHLHSL CLLMLYLATG YGQEGKFSGP LKPMTFSIYE GQEPSQIIFQ FKANPPAVTF
ELTGETDNIF VIEREGLLYY NRALDRETRS THNLQVAALD ANGIIVEGPV PITIEVKDIN
DNRPTFLQSK YEGSVRQNSR PGNSIGTLTA HDRDEENTAN SFLNYRIVEQ TPKLPMDGLF
LIQTYAGMLQ LAKQSLKKQD TPQYNLTIEV SDKDFKTLCF VQINVIDIND QIPIFEKSDY
GNLTLAEDTN IGSTILTIQA TDADEPFTGS SKILYHIIKG DSEGRLGVDT DPHTNTGYVI
IKKPLDFETA AVSNIVFKAE NPEPLVFGVK YNASSFAKFT LIVTDVNEAP QFSQHVFQAK
VSEDVAIGTK VGNVTAKDPE GLDISYSLRG DTRGWLKIDH VTGEIFSVAP LDREAGSPYR
VQVVATEVGG SSLSSVSEFH LILMDVNDNP PRLAKDYTGL FFCHPLSAPG SLIFEATDDD
QHLFRGPHFT FSLGSGSLQN DWEVSKINGT HARLSTRHTE FEEREYVVLI RINDGGRPPL
EGIVSLPGII LAVVFIRIKK DKGKDNVESA QASEVKPLRS *
speed 0.64 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