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 ENST00000295989
Genbank transcript ID NM_012298
UniProt peptide O75155
alteration type single base exchange
alteration region CDS
DNA changes c.3322G>A
cDNA.3571G>A
g.37473G>A
AA changes A1108T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1108
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      1108AALFESIQKDSASAPSTDSMELS*
mutated  not conserved    1108AALFESIQKDSTSAPSTDSMELS
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  1221GDPL-AGAVESMDTS
Dmelanogaster  not conserved  FBgn0027568  1236NKIFEYIQKDSITGSS
Celegans  not conserved  Y102A5A.1  1262EALANDVLKESQRAVVYDT
Xtropicalis  not conserved  ENSXETG00000001455  1222SLLFENVQKDTVSLCSAESMEIS
protein features
start (aa)end (aa)featuredetails 
11051141REPEATHEAT 24.lost
11571194REPEATHEAT 25.might get lost (downstream of altered splice site)
11731173MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
12041236REPEATHEAT 26.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3360 / 3360
position (AA) of stopcodon in wt / mu AA sequence 1120 / 1120
position of stopcodon in wt / mu cDNA 3609 / 3609
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 250 / 250
chromosome 3
strand 1
last intron/exon boundary 3382
theoretical NMD boundary in CDS 3082
length of CDS 3360
coding sequence (CDS) position 3322
cDNA position
(for ins/del: last normal base / first normal base)		 3571
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 WLGVPLGAFH ASLLHCLLPQ LSSPRLAVRK RAVGALGHLA AACSTDLFVE
LADHLLDRLP GPRVPTSPTA IRTLIQCLGS VGRQAGHRLG AHLDRLVPLV EDFCNLDDDE
LRESCLQAFE AFLRKCPKEM GPHVPNVTSL CLQYIKHDPN YNYDSDEDEE QMETEDSEFS
EQESEDEYSD DDDMSWKVRR AAAKCIAALI SSRPDLLPDF HCTLAPVLIR RFKEREENVK
ADVFTAYIVL LRQTQPPKGW LEAMEEPTQT GSNLHMLRGQ VPLVVKALQR QLKDRSVRAR
QGCFSLLTEL AGVLPGSLAE HMPVLVSGII FSLADRSSSS TIRMDALAFL QGLLGTEPAE
AFHPHLPILL PPVMACVADS FYKIAAEALV VLQELVRALW PLHRPRMLDP EPYVGEMSAV
TLARLRATDL DQEVKERAIS CMGHLVGHLG DRLGDDLEPT LLLLLDRLRN EITRLPAIKA
LTLVAVSPLQ LDLQPILAEA LHILASFLRK NQRALRLATL AALDALAQSQ GLSLPPSAVQ
AVLAELPALV NESDMHVAQL AVDFLATVTQ AQPASLVEVS GPVLSELLRL LRSPLLPAGV
LAAAEGFLQA LVGTRPPCVD YAKLISLLTA PVYEQAVDGG PGLHKQVFHS LARCVAALSA
ACPQEAASTA SRLVCDARSP HSSTGVKVLA FLSLAEVGQV AGPGHQRELK AVLLEALGSP
SEDVRAAASY ALGRVGAGSL PDFLPFLLEQ IEAEPRRQYL LLHSLREALG AAQPDSLKPY
AEDIWALLFQ RCEGAEEGTR GVVAECIGKL VLVNPSFLLP RLRKQLAAGR PHTRSTVITA
VKFLISDQPH PIDPLLKSFI AVHNKPSLVR DLLDDILPLL YQETKIRRDL IREVEMGPFK
HTVDDGLDVR KAAFECMYSL LESCLGQLDI CEFLNHVEDG LKDHYDIRML TFIMVARLAT
LCPAPVLQRV DRLIEPLRAT CTAKVKAGSV KQEFEKQDEL KRSAMRAVAA LLTIPEVGKS
PIMADFSSQI RSNPELAALF ESIQKDSASA PSTDSMELS*
mutated AA sequence MSTAAFHISS LLEKMTSSDK DFRFMATSDL MSELQKDSIQ LDEDSERKVV KMLLRLLEDK
NGEVQNLAVK WLGVPLGAFH ASLLHCLLPQ LSSPRLAVRK RAVGALGHLA AACSTDLFVE
LADHLLDRLP GPRVPTSPTA IRTLIQCLGS VGRQAGHRLG AHLDRLVPLV EDFCNLDDDE
LRESCLQAFE AFLRKCPKEM GPHVPNVTSL CLQYIKHDPN YNYDSDEDEE QMETEDSEFS
EQESEDEYSD DDDMSWKVRR AAAKCIAALI SSRPDLLPDF HCTLAPVLIR RFKEREENVK
ADVFTAYIVL LRQTQPPKGW LEAMEEPTQT GSNLHMLRGQ VPLVVKALQR QLKDRSVRAR
QGCFSLLTEL AGVLPGSLAE HMPVLVSGII FSLADRSSSS TIRMDALAFL QGLLGTEPAE
AFHPHLPILL PPVMACVADS FYKIAAEALV VLQELVRALW PLHRPRMLDP EPYVGEMSAV
TLARLRATDL DQEVKERAIS CMGHLVGHLG DRLGDDLEPT LLLLLDRLRN EITRLPAIKA
LTLVAVSPLQ LDLQPILAEA LHILASFLRK NQRALRLATL AALDALAQSQ GLSLPPSAVQ
AVLAELPALV NESDMHVAQL AVDFLATVTQ AQPASLVEVS GPVLSELLRL LRSPLLPAGV
LAAAEGFLQA LVGTRPPCVD YAKLISLLTA PVYEQAVDGG PGLHKQVFHS LARCVAALSA
ACPQEAASTA SRLVCDARSP HSSTGVKVLA FLSLAEVGQV AGPGHQRELK AVLLEALGSP
SEDVRAAASY ALGRVGAGSL PDFLPFLLEQ IEAEPRRQYL LLHSLREALG AAQPDSLKPY
AEDIWALLFQ RCEGAEEGTR GVVAECIGKL VLVNPSFLLP RLRKQLAAGR PHTRSTVITA
VKFLISDQPH PIDPLLKSFI AVHNKPSLVR DLLDDILPLL YQETKIRRDL IREVEMGPFK
HTVDDGLDVR KAAFECMYSL LESCLGQLDI CEFLNHVEDG LKDHYDIRML TFIMVARLAT
LCPAPVLQRV DRLIEPLRAT CTAKVKAGSV KQEFEKQDEL KRSAMRAVAA LLTIPEVGKS
PIMADFSSQI RSNPELAALF ESIQKDSTSA PSTDSMELS*
speed 0.82 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