Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.15292389336432 (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 ENST00000405266
Genbank transcript ID N/A
UniProt peptide O94901
alteration type single base exchange
alteration region CDS
DNA changes c.352C>T
cDNA.376C>T
g.26141C>T
AA changes H118Y Score: 83 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 118
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      118VSRQVTSSGVSHGGTVSLQDAVTR
mutated  all conserved    118VSRQVTSSGVSYGG
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  120ASRKSVTNTSFQS
protein features
start (aa)end (aa)featuredetails 
1138REGIONLMNA-binding.lost
1315TOPO_DOMNuclear.lost
138138MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
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 2469 / 2469
position (AA) of stopcodon in wt / mu AA sequence 823 / 823
position of stopcodon in wt / mu cDNA 2493 / 2493
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 25 / 25
chromosome 7
strand 1
last intron/exon boundary 2377
theoretical NMD boundary in CDS 2302
length of CDS 2469
coding sequence (CDS) position 352
cDNA position
(for ins/del: last normal base / first normal base)		 376
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 MDFSRLHMYS PPQCVPENTG YTYALSSSYS SDALDFETEH KLDPVFDSPR MSRRSLRLAT
TACTLGDGEA VGADSGTSSA VSLKNRAART TKQRRSTNKS AFSINHVSRQ VTSSGVSHGG
TVSLQDAVTR RPPVLDESWI REQTTVDHFW GLDDDGDLKG GNKAAIQGNG DVGAAAATAH
NGFSCSNCSM LSERKDVLTA HPAAPGPVSR VYSRDRNQKC DDCKGKRHLD AHTAAHSQSP
RLPGRAGTLW HIWACAGYFL LQILRRIGAV GQAVSRTAWS ALWLAVVAPG KAASGVFWWL
GIGWYQFVTL ISWLNVFLLT RCLRNICKFL VLLIPLFLLL AGLSLRGQGN FFSFLPVLNW
ASMHRTQRVD DPQDVFKPTT SRLKQPLQGD SEAFPWHWMS GVEQQVASLS GQCHHHGENL
RELTTLLQKL QARVDQMEGG AAGPSASVRD AVGQPPRETD FMAFHQEHEV RMSHLEDILG
KLREKSEAIQ KELEQTKQKT ISAVGEQLLP TVEHLQLELD QLKSELSSWR HVKTGCETVD
AVQERVDVQV REMVKLLFSE DQQGGSLEQL LQRFSSQFVS KGDLQTMLRD LQLQILRNVT
HHVSVTKQLP TSEAVVSAVS EAGASGITEA QARAIVNSAL KLYSQDKTGM VDFALESGGG
SILSTRCSET YETKTALMSL FGIPLWYFSQ SPRVVIQPDI YPGNCWAFKG SQGYLVVRLS
MMIHPAAFTL EHIPKTLSPT GNISSAPKDF AVYGLENEYQ EEGQLLGQFT YDQDGESLQM
FQALKRPDDT AFQIVELRIF SNWGHPEYTC LYRFRVHGEP VK*
mutated AA sequence MDFSRLHMYS PPQCVPENTG YTYALSSSYS SDALDFETEH KLDPVFDSPR MSRRSLRLAT
TACTLGDGEA VGADSGTSSA VSLKNRAART TKQRRSTNKS AFSINHVSRQ VTSSGVSYGG
TVSLQDAVTR RPPVLDESWI REQTTVDHFW GLDDDGDLKG GNKAAIQGNG DVGAAAATAH
NGFSCSNCSM LSERKDVLTA HPAAPGPVSR VYSRDRNQKC DDCKGKRHLD AHTAAHSQSP
RLPGRAGTLW HIWACAGYFL LQILRRIGAV GQAVSRTAWS ALWLAVVAPG KAASGVFWWL
GIGWYQFVTL ISWLNVFLLT RCLRNICKFL VLLIPLFLLL AGLSLRGQGN FFSFLPVLNW
ASMHRTQRVD DPQDVFKPTT SRLKQPLQGD SEAFPWHWMS GVEQQVASLS GQCHHHGENL
RELTTLLQKL QARVDQMEGG AAGPSASVRD AVGQPPRETD FMAFHQEHEV RMSHLEDILG
KLREKSEAIQ KELEQTKQKT ISAVGEQLLP TVEHLQLELD QLKSELSSWR HVKTGCETVD
AVQERVDVQV REMVKLLFSE DQQGGSLEQL LQRFSSQFVS KGDLQTMLRD LQLQILRNVT
HHVSVTKQLP TSEAVVSAVS EAGASGITEA QARAIVNSAL KLYSQDKTGM VDFALESGGG
SILSTRCSET YETKTALMSL FGIPLWYFSQ SPRVVIQPDI YPGNCWAFKG SQGYLVVRLS
MMIHPAAFTL EHIPKTLSPT GNISSAPKDF AVYGLENEYQ EEGQLLGQFT YDQDGESLQM
FQALKRPDDT AFQIVELRIF SNWGHPEYTC LYRFRVHGEP VK*
speed 0.31 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