Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999997946391 (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) chr3:12875443G>AN/A show variant in all transcripts   IGV
HGNC symbol CAND2
Ensembl transcript ID ENST00000456430
Genbank transcript ID NM_001162499
UniProt peptide O75155
alteration type single base exchange
alteration region CDS
DNA changes c.3673G>A
cDNA.3714G>A
g.37473G>A
AA changes A1225T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1225
frameshift no
known variant Reference ID: rs12629133
databasehomozygous (A/A)heterozygousallele carriers
1000G54011781718
ExAC19243-571913524
regulatory features PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-2.1320
0.150.007
(flanking)0.8010.076
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained374730.44mu: ATTCCACTTCAGCCC TCCA|cttc
distance from splice site 190
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1225AALFESIQKDSASAPSTDSMELS*
mutated  not conserved    1225AALFESIQKDSTSAPSTDSMELS
Ptroglodytes  all identical  ENSPTRG00000014637  1225AALFESIQKDSASAPSTDSMELS
Mmulatta  not conserved  ENSMMUG00000001339  1108AALFESIQKDSTSAPSTDSMELS
Fcatus  all identical  ENSFCAG00000008340  1107DALFESIQKDSASAPSTDSME
Mmusculus  all identical  ENSMUSG00000030319  1224TTLFESIQKDTASGPSTDSMELS
Ggallus  all identical  ENSGALG00000008420  1228ASLFESIQKDTASLPTTESMDMS
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000005749  1221ATIFESLQGDPL-AGAVESMDTS
Dmelanogaster  not conserved  FBgn0027568  1236NKIFEYIQKDSITGSS
Celegans  not conserved  Y102A5A.1  1262EALANDVLKESQRAVVYDT
Xtropicalis  not conserved  ENSXETG00000001455  1222SLLFENVQKDTVSLCSAESMEIS
protein features
start (aa)end (aa)featuredetails 
12041236REPEATHEAT 26.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3711 / 3711
position (AA) of stopcodon in wt / mu AA sequence 1237 / 1237
position of stopcodon in wt / mu cDNA 3752 / 3752
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 42 / 42
chromosome 3
strand 1
last intron/exon boundary 3525
theoretical NMD boundary in CDS 3433
length of CDS 3711
coding sequence (CDS) position 3673
cDNA position
(for ins/del: last normal base / first normal base)		 3714
gDNA position
(for ins/del: last normal base / first normal base)		 37473
chromosomal position
(for ins/del: last normal base / first normal base)		 12875443
original gDNA sequence snippet AAAGCATCCAGAAGGATTCCGCTTCAGCCCCCAGCACAGAC
altered gDNA sequence snippet AAAGCATCCAGAAGGATTCCACTTCAGCCCCCAGCACAGAC
original cDNA sequence snippet AAAGCATCCAGAAGGATTCCGCTTCAGCCCCCAGCACAGAC
altered cDNA sequence snippet AAAGCATCCAGAAGGATTCCACTTCAGCCCCCAGCACAGAC
wildtype AA sequence MSTAAFHISS LLEKMTSSDK DFRFMATSDL MSELQKDSIQ LDEDSERKVV KMLLRLLEDK
NGEVQNLAVK CLGPLVVKVK EYQVETIVDT LCTNMRSDKE QLRDIAGIGL KTVLSELPPA
ATGSGLATNV CRKITGQLTS AIAQQEDVAV QLEALDILSD MLSRLGVPLG AFHASLLHCL
LPQLSSPRLA VRKRAVGALG HLAAACSTDL FVELADHLLD RLPGPRVPTS PTAIRTLIQC
LGSVGRQAGH RLGAHLDRLV PLVEDFCNLD DDELRESCLQ AFEAFLRKCP KEMGPHVPNV
TSLCLQYIKH DPNYNYDSDE DEEQMETEDS EFSEQESEDE YSDDDDMSWK VRRAAAKCIA
ALISSRPDLL PDFHCTLAPV LIRRFKEREE NVKADVFTAY IVLLRQTQPP KGWLEAMEEP
TQTGSNLHML RGQVPLVVKA LQRQLKDRSV RARQGCFSLL TELAGVLPGS LAEHMPVLVS
GIIFSLADRS SSSTIRMDAL AFLQGLLGTE PAEAFHPHLP ILLPPVMACV ADSFYKIAAE
ALVVLQELVR ALWPLHRPRM LDPEPYVGEM SAVTLARLRA TDLDQEVKER AISCMGHLVG
HLGDRLGDDL EPTLLLLLDR LRNEITRLPA IKALTLVAVS PLQLDLQPIL AEALHILASF
LRKNQRALRL ATLAALDALA QSQGLSLPPS AVQAVLAELP ALVNESDMHV AQLAVDFLAT
VTQAQPASLV EVSGPVLSEL LRLLRSPLLP AGVLAAAEGF LQALVGTRPP CVDYAKLISL
LTAPVYEQAV DGGPGLHKQV FHSLARCVAA LSAACPQEAA STASRLVCDA RSPHSSTGVK
VLAFLSLAEV GQVAGPGHQR ELKAVLLEAL GSPSEDVRAA ASYALGRVGA GSLPDFLPFL
LEQIEAEPRR QYLLLHSLRE ALGAAQPDSL KPYAEDIWAL LFQRCEGAEE GTRGVVAECI
GKLVLVNPSF LLPRLRKQLA AGRPHTRSTV ITAVKFLISD QPHPIDPLLK SFIGEFMESL
QDPDLNVRRA TLAFFNSAVH NKPSLVRDLL DDILPLLYQE TKIRRDLIRE VEMGPFKHTV
DDGLDVRKAA FECMYSLLES CLGQLDICEF LNHVEDGLKD HYDIRMLTFI MVARLATLCP
APVLQRVDRL IEPLRATCTA KVKAGSVKQE FEKQDELKRS AMRAVAALLT IPEVGKSPIM
ADFSSQIRSN PELAALFESI QKDSASAPST DSMELS*
mutated AA sequence MSTAAFHISS LLEKMTSSDK DFRFMATSDL MSELQKDSIQ LDEDSERKVV KMLLRLLEDK
NGEVQNLAVK CLGPLVVKVK EYQVETIVDT LCTNMRSDKE QLRDIAGIGL KTVLSELPPA
ATGSGLATNV CRKITGQLTS AIAQQEDVAV QLEALDILSD MLSRLGVPLG AFHASLLHCL
LPQLSSPRLA VRKRAVGALG HLAAACSTDL FVELADHLLD RLPGPRVPTS PTAIRTLIQC
LGSVGRQAGH RLGAHLDRLV PLVEDFCNLD DDELRESCLQ AFEAFLRKCP KEMGPHVPNV
TSLCLQYIKH DPNYNYDSDE DEEQMETEDS EFSEQESEDE YSDDDDMSWK VRRAAAKCIA
ALISSRPDLL PDFHCTLAPV LIRRFKEREE NVKADVFTAY IVLLRQTQPP KGWLEAMEEP
TQTGSNLHML RGQVPLVVKA LQRQLKDRSV RARQGCFSLL TELAGVLPGS LAEHMPVLVS
GIIFSLADRS SSSTIRMDAL AFLQGLLGTE PAEAFHPHLP ILLPPVMACV ADSFYKIAAE
ALVVLQELVR ALWPLHRPRM LDPEPYVGEM SAVTLARLRA TDLDQEVKER AISCMGHLVG
HLGDRLGDDL EPTLLLLLDR LRNEITRLPA IKALTLVAVS PLQLDLQPIL AEALHILASF
LRKNQRALRL ATLAALDALA QSQGLSLPPS AVQAVLAELP ALVNESDMHV AQLAVDFLAT
VTQAQPASLV EVSGPVLSEL LRLLRSPLLP AGVLAAAEGF LQALVGTRPP CVDYAKLISL
LTAPVYEQAV DGGPGLHKQV FHSLARCVAA LSAACPQEAA STASRLVCDA RSPHSSTGVK
VLAFLSLAEV GQVAGPGHQR ELKAVLLEAL GSPSEDVRAA ASYALGRVGA GSLPDFLPFL
LEQIEAEPRR QYLLLHSLRE ALGAAQPDSL KPYAEDIWAL LFQRCEGAEE GTRGVVAECI
GKLVLVNPSF LLPRLRKQLA AGRPHTRSTV ITAVKFLISD QPHPIDPLLK SFIGEFMESL
QDPDLNVRRA TLAFFNSAVH NKPSLVRDLL DDILPLLYQE TKIRRDLIRE VEMGPFKHTV
DDGLDVRKAA FECMYSLLES CLGQLDICEF LNHVEDGLKD HYDIRMLTFI MVARLATLCP
APVLQRVDRL IEPLRATCTA KVKAGSVKQE FEKQDELKRS AMRAVAALLT IPEVGKSPIM
ADFSSQIRSN PELAALFESI QKDSTSAPST DSMELS*
speed 1.23 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