Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999958373846224 (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) chr14:24533539C>AN/A show variant in all transcripts   IGV
HGNC symbol CARMIL3
Ensembl transcript ID ENST00000334420
Genbank transcript ID N/A
UniProt peptide Q8ND23
alteration type single base exchange
alteration region CDS
DNA changes c.352C>A
cDNA.3221C>A
g.12334C>A
AA changes L118M Score: 15 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 118
frameshift no
known variant Reference ID: rs10146906
databasehomozygous (A/A)heterozygousallele carriers
1000G37310001373
ExAC97271331323040
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.381
1.331
(flanking)3.6831
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained123300.97mu: CGAAGGGTCATGGAG AAGG|gtca
distance from splice site 17
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      118EGLEDFFSRRVLEESSSYPRTLRT
mutated  all conserved    118EGLEDFFSRRVMEE
Ptroglodytes  all conserved  ENSPTRG00000006188  1022EGLEDFFSRRVMEE
Mmulatta  all conserved  ENSMMUG00000007357  1023EGLEDFFSRRVMEE
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000022211  1021EGLEDFFSRRVMDE
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000086990  1010DGLPDFYTKRVLPDSQLSSHHHA
Dmelanogaster  no alignment  FBgn0033212  n/a
Celegans  all conserved  K07G5.1  861GGPENGDLADLIEEVDEVEQEPR
Xtropicalis  no alignment  ENSXETG00000022577  n/a
protein features
start (aa)end (aa)featuredetails 
244264REPEATLRR 1.might get lost (downstream of altered splice site)
274295REPEATLRR 2.might get lost (downstream of altered splice site)
303323REPEATLRR 3.might get lost (downstream of altered splice site)
335357REPEATLRR 4.might get lost (downstream of altered splice site)
365385REPEATLRR 5.might get lost (downstream of altered splice site)
392413REPEATLRR 6.might get lost (downstream of altered splice site)
424444REPEATLRR 7.might get lost (downstream of altered splice site)
455475REPEATLRR 8.might get lost (downstream of altered splice site)
482501REPEATLRR 9.might get lost (downstream of altered splice site)
509530REPEATLRR 10.might get lost (downstream of altered splice site)
10621062CONFLICTR -> W (in Ref. 2; CAD38886).might get lost (downstream of altered splice site)
10701098COMPBIASPro-rich.might get lost (downstream of altered splice site)
12041208COMPBIASPoly-Pro.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1278 / 1278
position (AA) of stopcodon in wt / mu AA sequence 426 / 426
position of stopcodon in wt / mu cDNA 4147 / 4147
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 2870 / 2870
chromosome 14
strand 1
last intron/exon boundary 4122
theoretical NMD boundary in CDS 1202
length of CDS 1278
coding sequence (CDS) position 352
cDNA position
(for ins/del: last normal base / first normal base)		 3221
gDNA position
(for ins/del: last normal base / first normal base)		 12334
chromosomal position
(for ins/del: last normal base / first normal base)		 24533539
original gDNA sequence snippet ACTTCTTCAGCCGAAGGGTCCTGGAGGAAAGTTCTAGGTGT
altered gDNA sequence snippet ACTTCTTCAGCCGAAGGGTCATGGAGGAAAGTTCTAGGTGT
original cDNA sequence snippet ACTTCTTCAGCCGAAGGGTCCTGGAGGAAAGTTCTAGCTAC
altered cDNA sequence snippet ACTTCTTCAGCCGAAGGGTCATGGAGGAAAGTTCTAGCTAC
wildtype AA sequence MAIKKQKRCR KIRPVSAFIS GSPQDMESQL GNLGIPPGWF SGLGGSQPTA SGSWEGLSEL
PTHGYKLRHQ TQGRPRPPRT TPPGPGRPSM PAPGTRQENG MATRLDEGLE DFFSRRVLEE
SSSYPRTLRT VRPGLSEAPL PPLQKKRRRG LFHFRRPRSF KGDRGPGSPT TGLLLPPPPP
PPPTQESPPS PDPPSLGNNS SPCWSPEEES SLLPGFGGGR GPSFRRKMGP GPDQEGSTQA
WQKRRSSDDA GPGSWKPPPP PQSTKPSFSA MRRAEATWHI AEESAPNHSC QSPSPASQDG
EEEKEGTLFP ERTLPARNAK LQDPALAPWP PKPVAVPRGR QPPQEPGVRE EAEAGDAAPG
VNKPRLRLSS QQDQEEPEVQ GPPDPGRRTA PLKPKRTRRA QSCDKLEPDR RRPPDPTGTS
EPGTD*
mutated AA sequence MAIKKQKRCR KIRPVSAFIS GSPQDMESQL GNLGIPPGWF SGLGGSQPTA SGSWEGLSEL
PTHGYKLRHQ TQGRPRPPRT TPPGPGRPSM PAPGTRQENG MATRLDEGLE DFFSRRVMEE
SSSYPRTLRT VRPGLSEAPL PPLQKKRRRG LFHFRRPRSF KGDRGPGSPT TGLLLPPPPP
PPPTQESPPS PDPPSLGNNS SPCWSPEEES SLLPGFGGGR GPSFRRKMGP GPDQEGSTQA
WQKRRSSDDA GPGSWKPPPP PQSTKPSFSA MRRAEATWHI AEESAPNHSC QSPSPASQDG
EEEKEGTLFP ERTLPARNAK LQDPALAPWP PKPVAVPRGR QPPQEPGVRE EAEAGDAAPG
VNKPRLRLSS QQDQEEPEVQ GPPDPGRRTA PLKPKRTRRA QSCDKLEPDR RRPPDPTGTS
EPGTD*
speed 0.96 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