Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.0703963021481221 (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
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:3561396C>TN/A show variant in all transcripts   IGV
HGNC symbol CTNS
Ensembl transcript ID ENST00000414524
Genbank transcript ID N/A
UniProt peptide O60931
alteration type single base exchange
alteration region CDS
DNA changes c.338C>T
cDNA.864C>T
g.21635C>T
AA changes T113I Score: 89 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 113
frameshift no
known variant Reference ID: rs161400
databasehomozygous (T/T)heterozygousallele carriers
1000G17695602329
ExAC---
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.9770.99
2.3941
(flanking)3.7151
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 74
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      113FVTMIVAAVGVTTWLQFLFCFSYI
mutated  not conserved    113FVTMIVAAVGVITWLQFLF
Ptroglodytes  all identical  ENSPTRG00000008572  254FVTMIVAAVGVTTWLQFLF
Mmulatta  all identical  ENSMMUG00000023389  260LVTMIVAAVGVTTWLQFLF
Fcatus  all identical  ENSFCAG00000007923  260LITMILAAVGVTTWLRFLFC
Mmusculus  all identical  ENSMUSG00000005949  260LVTMIVAAVGITTWLQFLFC
Ggallus  not conserved  ENSGALG00000004628  271FTTLFLAAAEEMTWLQFLFC
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000008890  265FVSLFVAVAKKISWLDYLYY
Dmelanogaster  not conserved  FBgn0039045  265VVSAGLAGGSVIHWLDFLYY
Celegans  not conserved  C41C4.7  262FCSAAATVLRKIQLLSFVT
Xtropicalis  not conserved  ENSXETG00000005795  270LTVLFVAVAGKITWLLFLFC
protein features
start (aa)end (aa)featuredetails 
1121TOPO_DOMLumenal (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 663 / 663
position (AA) of stopcodon in wt / mu AA sequence 221 / 221
position of stopcodon in wt / mu cDNA 1189 / 1189
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 527 / 527
chromosome 17
strand 1
last intron/exon boundary 1056
theoretical NMD boundary in CDS 479
length of CDS 663
coding sequence (CDS) position 338
cDNA position
(for ins/del: last normal base / first normal base)		 864
gDNA position
(for ins/del: last normal base / first normal base)		 21635
chromosomal position
(for ins/del: last normal base / first normal base)		 3561396
original gDNA sequence snippet CGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCT
altered gDNA sequence snippet CGTGGCTGCAGTGGGAGTGATCACGTGGCTGCAGTTTCTCT
original cDNA sequence snippet CGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCT
altered cDNA sequence snippet CGTGGCTGCAGTGGGAGTGATCACGTGGCTGCAGTTTCTCT
wildtype AA sequence MNWRRKSVIG LSFDFVALNL TGFVAYSVFN IGLLWVPYIK EQFLLKYPNG VNPVNSNDVF
FSLHAVVLTL IIIVQCCLYE RGGQRVSWPA IGFLVLAWLF AFVTMIVAAV GVTTWLQFLF
CFSYIKLAVT LVKYFPQAYM NFYYKSTEGW SIGNVLLDFT GGSFSLLQMF LQSYNNDQWT
LIFGDPTKFG LGVFSIVFDV VFFIQHFCLY RKRPGYDQLN *
mutated AA sequence MNWRRKSVIG LSFDFVALNL TGFVAYSVFN IGLLWVPYIK EQFLLKYPNG VNPVNSNDVF
FSLHAVVLTL IIIVQCCLYE RGGQRVSWPA IGFLVLAWLF AFVTMIVAAV GVITWLQFLF
CFSYIKLAVT LVKYFPQAYM NFYYKSTEGW SIGNVLLDFT GGSFSLLQMF LQSYNNDQWT
LIFGDPTKFG LGVFSIVFDV VFFIQHFCLY RKRPGYDQLN *
speed 0.72 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