Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.999999886796861 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • 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) chr18:613202A>GN/A show variant in all transcripts   IGV
HGNC symbol CLUL1
Ensembl transcript ID ENST00000400606
Genbank transcript ID NM_014410
UniProt peptide Q15846
alteration type single base exchange
alteration region intron
DNA changes g.16215A>G
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs8086356
databasehomozygous (G/G)heterozygousallele carriers
1000G1699731142
ExAC58434492
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.9950.021
-0.9470.023
(flanking)0.1870.033
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change before start ATG (at aa -3) |
effectgDNA positionscoredetection sequence  exon-intron border
Donor gained162090.69mu: TGCACTGCTGCGATC CACT|gctg
distance from splice site 4786
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
120SIGNALPotential.might get lost (downstream of altered splice site)
57111COILEDPotential.might get lost (downstream of altered splice site)
105105DISULFIDBy similarity.might get lost (downstream of altered splice site)
116116DISULFIDBy similarity.might get lost (downstream of altered splice site)
119119DISULFIDBy similarity.might get lost (downstream of altered splice site)
124124DISULFIDBy similarity.might get lost (downstream of altered splice site)
131131DISULFIDBy similarity.might get lost (downstream of altered splice site)
196196CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
257257CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
305305DISULFIDBy similarity.might get lost (downstream of altered splice site)
311311CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
315315DISULFIDBy similarity.might get lost (downstream of altered splice site)
322322DISULFIDBy similarity.might get lost (downstream of altered splice site)
325325DISULFIDBy similarity.might get lost (downstream of altered splice site)
333333DISULFIDBy similarity.might get lost (downstream of altered splice site)
351351CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
412412CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
431431CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
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 146 / 146
chromosome 18
strand 1
last intron/exon boundary 1543
theoretical NMD boundary in CDS 1347
length of CDS 1401
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 16215
chromosomal position
(for ins/del: last normal base / first normal base)		 613202
original gDNA sequence snippet AGACTGGAGTGCACTGCTGCAATCTCAGCTCACTGCAACCT
altered gDNA sequence snippet AGACTGGAGTGCACTGCTGCGATCTCAGCTCACTGCAACCT
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MKPPLLVFIV CLLWLKDSHC APTWKDKTAI SENLKSFSEV GEIDADEEVK KALTGIKQMK
IMMERKEKEH TNLMSTLKKC REEKQEALKL LNEVQEHLEE EERLCRESLA DSWGECRSCL
ENNCMRIYTT CQPSWSSVKN KIERFFRKIY QFLFPFHEDN EKDLPISEKL IEEDAQLTQM
EDVFSQLTVD VNSLFNRSFN VFRQMQQEFD QTFQSHFISD TDLTEPYFFP AFSKEPMTKA
DLEQCWDIPN FFQLFCNFSV SIYESVSETI TKMLKAIEDL PKQDKAPDHG GLISKMLPGQ
DRGLCGELDQ NLSRCFKFHE KCQKCQAHLS EDCPDVPALH TELDEAIRLV NVSNQQYGQI
LQMTRKHLED TAYLVEKMRG QFGWVSELAN QAPETEIIFN SIQVVPRIHE GNISKQDETM
MTDLSILPSS NFTLKIPLEE SAESSNFIGY VVAKALQHFK EHFKTW*
mutated AA sequence N/A
speed 0.37 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