Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.190327355664439 (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) chr7:881668C>TN/A show variant in all transcripts   IGV
HGNC symbol SUN1
Ensembl transcript ID ENST00000456758
Genbank transcript ID N/A
UniProt peptide O94901
alteration type single base exchange
alteration region CDS
DNA changes c.526C>T
cDNA.526C>T
g.26141C>T
AA changes H176Y Score: 83 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 176
frameshift no
known variant Reference ID: rs6461378
databasehomozygous (T/T)heterozygousallele carriers
1000G72412211945
ExAC13493578119274
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.2421
4.1851
(flanking)2.0980.967
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained261340.38mu: TCTGGCGTCAGCTAC TGGC|gtca
distance from splice site 86
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      176VSRQVTSSGVSHGGTVSLQDAVTR
mutated  all conserved    176VSRQVTSSGVSYGGTV
Ptroglodytes  all identical  ENSPTRG00000018833  118VSRQVTSSGVSHGG
Mmulatta  all identical  ENSMMUG00000017056  118VSRQVTSFGVSHSG
Fcatus  not conserved  ENSFCAG00000005256  118ASRRVVSSAVGQGG
Mmusculus  all identical  ENSMUSG00000036817  118LSGKGLSSSTSHD
Ggallus  not conserved  ENSGALG00000003781  122NQSSFLSRASDTS
Trubripes  not conserved  ENSTRUG00000015866  129PINTPVSSGIVEESSAATDAALL
Drerio  not conserved  ENSDARG00000055350  126SVTGTPQSTSDLSFTSTDAS
Dmelanogaster  no alignment  FBgn0033107  n/a
Celegans  no alignment  F54B11.3  n/a
Xtropicalis  not conserved  ENSXETG00000021642  122QSQSSFNSQIADT
protein features
start (aa)end (aa)featuredetails 
1315TOPO_DOMNuclear.lost
174174CONFLICTA -> V (in Ref. 1; BAA34530).might get lost (downstream of altered splice site)
204204CONFLICTA -> P (in Ref. 5; AAH13613).might get lost (downstream of altered splice site)
209302REGIONSYNE2-binding.might get lost (downstream of altered splice site)
223302REGIONEMD-binding.might get lost (downstream of altered splice site)
316335TRANSMEMHelical.might get lost (downstream of altered splice site)
336812TOPO_DOMPerinuclear space.might get lost (downstream of altered splice site)
393430COILEDPotential.might get lost (downstream of altered splice site)
445445CONFLICTP -> L (in Ref. 2; BAG51119).might get lost (downstream of altered splice site)
455493COILEDPotential.might get lost (downstream of altered splice site)
501523COILEDPotential.might get lost (downstream of altered splice site)
520520CONFLICTR -> Q (in Ref. 2; BAG51119).might get lost (downstream of altered splice site)
649811DOMAINSUN.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2925 / 2925
position (AA) of stopcodon in wt / mu AA sequence 975 / 975
position of stopcodon in wt / mu cDNA 2925 / 2925
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 1 / 1
chromosome 7
strand 1
last intron/exon boundary 2809
theoretical NMD boundary in CDS 2758
length of CDS 2925
coding sequence (CDS) position 526
cDNA position
(for ins/del: last normal base / first normal base)		 526
gDNA position
(for ins/del: last normal base / first normal base)		 26141
chromosomal position
(for ins/del: last normal base / first normal base)		 881668
original gDNA sequence snippet TCACGTCCTCTGGCGTCAGCCACGGCGGCACTGTCAGCCTG
altered gDNA sequence snippet TCACGTCCTCTGGCGTCAGCTACGGCGGCACTGTCAGCCTG
original cDNA sequence snippet TCACGTCCTCTGGCGTCAGCCACGGCGGCACTGTCAGCCTG
altered cDNA sequence snippet TCACGTCCTCTGGCGTCAGCTACGGCGGCACTGTCAGCCTG
wildtype AA sequence MGDVRKAKEA LAEVQIPPPD AGPSPRCKPP PAERLLGPGR RRRGLRRRRE AVWFEVVNMD
FSRLHMYSPP QCVPENTGYT YALSSSYSSD ALDFETEHKL DPVFDSPRMS RRSLRLATTA
CTLGDGEAVG ADSGTSSAVS LKNRAARTTK QRRSTNKSAF SINHVSRQVT SSGVSHGGTV
SLQDAVTRRP PVLDESWIRE QTTVDHFWGL DDDGDLKGGN KAAIQGNGDV GAAAATAHNG
FSCSNCSMLS ERKDVLTAHP AAPGPVSRVY SRDRNQKCGA SFYVNRILWL ARYTASSFSS
FLVQLFQVVL MKLSYESENY KLKTHESKDC ESESYKSKSH ESKAHASYYG RMNVREVLRE
DGHLSVNGEA LCDDCKGKRH LDAHTAAHSQ SPRLPGRAGT LWHIWACAGY FLLQILRRIG
AVGQAVSRTA WSALWLAVVA PGKAASGVFW WLGIGWYQFV TLISWLNVFL LTRCLRNICK
FLVLLIPLFL LLAGLSLRGQ GNFFSFLPVL NWASMHRTQR VDDPQDVFKP TTSRLKQPLQ
GDSEAFPWHW MSGVEQQVAS LSGQCHHHGE NLRELTTLLQ KLQARVDQME GGAAGPSASV
RDAVGQPPRE TDFMAFHQEH EVRMSHLEDI LGKLREKSEA IQKELEQTKQ KTISAVGEQL
LPTVEHLQLE LDQLKSELSS WRHVKTGCET VDAVQERVDV QVREMVKLLF SEDQQGGSLE
QLLQRFSSQF VSKGDLQTML RDLQLQILRN VTHHVSVTKQ LPTSEAVVSA VSEAGASGIT
EAQARAIVNS ALKLYSQDKT GMVDFALESG GGSILSTRCS ETYETKTALM SLFGIPLWYF
SQSPRVVIQP DIYPGNCWAF KGSQGYLVVR LSMMIHPAAF TLEHIPKTLS PTGNISSAPK
DFAVYGLENE YQEEGQLLGQ FTYDQDGESL QMFQALKRPD DTAFQIVELR IFSNWGHPEY
TCLYRFRVHG EPVK*
mutated AA sequence MGDVRKAKEA LAEVQIPPPD AGPSPRCKPP PAERLLGPGR RRRGLRRRRE AVWFEVVNMD
FSRLHMYSPP QCVPENTGYT YALSSSYSSD ALDFETEHKL DPVFDSPRMS RRSLRLATTA
CTLGDGEAVG ADSGTSSAVS LKNRAARTTK QRRSTNKSAF SINHVSRQVT SSGVSYGGTV
SLQDAVTRRP PVLDESWIRE QTTVDHFWGL DDDGDLKGGN KAAIQGNGDV GAAAATAHNG
FSCSNCSMLS ERKDVLTAHP AAPGPVSRVY SRDRNQKCGA SFYVNRILWL ARYTASSFSS
FLVQLFQVVL MKLSYESENY KLKTHESKDC ESESYKSKSH ESKAHASYYG RMNVREVLRE
DGHLSVNGEA LCDDCKGKRH LDAHTAAHSQ SPRLPGRAGT LWHIWACAGY FLLQILRRIG
AVGQAVSRTA WSALWLAVVA PGKAASGVFW WLGIGWYQFV TLISWLNVFL LTRCLRNICK
FLVLLIPLFL LLAGLSLRGQ GNFFSFLPVL NWASMHRTQR VDDPQDVFKP TTSRLKQPLQ
GDSEAFPWHW MSGVEQQVAS LSGQCHHHGE NLRELTTLLQ KLQARVDQME GGAAGPSASV
RDAVGQPPRE TDFMAFHQEH EVRMSHLEDI LGKLREKSEA IQKELEQTKQ KTISAVGEQL
LPTVEHLQLE LDQLKSELSS WRHVKTGCET VDAVQERVDV QVREMVKLLF SEDQQGGSLE
QLLQRFSSQF VSKGDLQTML RDLQLQILRN VTHHVSVTKQ LPTSEAVVSA VSEAGASGIT
EAQARAIVNS ALKLYSQDKT GMVDFALESG GGSILSTRCS ETYETKTALM SLFGIPLWYF
SQSPRVVIQP DIYPGNCWAF KGSQGYLVVR LSMMIHPAAF TLEHIPKTLS PTGNISSAPK
DFAVYGLENE YQEEGQLLGQ FTYDQDGESL QMFQALKRPD DTAFQIVELR IFSNWGHPEY
TCLYRFRVHG EPVK*
speed 0.70 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