Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999576 (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) chr2:231042276A>GN/A show variant in all transcripts   IGV
HGNC symbol SP110
Ensembl transcript ID ENST00000258381
Genbank transcript ID NM_080424
UniProt peptide Q9HB58
alteration type single base exchange
alteration region CDS
DNA changes c.1568T>C
cDNA.1646T>C
g.48169T>C
AA changes M523T Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 523
frameshift no
known variant Reference ID: rs1135791
databasehomozygous (G/G)heterozygousallele carriers
1000G3169951311
ExAC12009874920758
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.360
-0.2870
(flanking)-0.9430
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased48174wt: 0.7805 / mu: 0.8416 (marginal change - not scored)wt: TGACCCTAGGAGAGC
mu: CGACCCTAGGAGAGC		 ACCC|tagg
Donor increased48171wt: 0.39 / mu: 0.61wt: GAATGACCCTAGGAG
mu: GAACGACCCTAGGAG		 ATGA|ccct
Donor marginally increased48164wt: 0.9854 / mu: 0.9914 (marginal change - not scored)wt: TGTGAAGGAATGACC
mu: TGTGAAGGAACGACC		 TGAA|ggaa
distance from splice site 23
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      523KNWKRNIRCEGMTLGELLKRKNSD
mutated  not conserved    523KNWKRNIRCEGTTLGELLKRKNS
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000070034  421KDWKGVIRCNGETLRHL
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000055359  50GLWKRDILCHGKTLNFLCKRVLS
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000032669  162STWDAHIYVRGEPLNTMFQATNL
protein features
start (aa)end (aa)featuredetails 
454535DOMAINSAND.lost
525529REGIONNuclear hormone receptor interaction (Potential).might get lost (downstream of altered splice site)
534580ZN_FINGPHD-type.might get lost (downstream of altered splice site)
570570CONFLICTM -> I (in Ref. 3; AK026488).might get lost (downstream of altered splice site)
581676DOMAINBromo.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2142 / 2142
position (AA) of stopcodon in wt / mu AA sequence 714 / 714
position of stopcodon in wt / mu cDNA 2220 / 2220
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 79 / 79
chromosome 2
strand -1
last intron/exon boundary 2107
theoretical NMD boundary in CDS 1978
length of CDS 2142
coding sequence (CDS) position 1568
cDNA position
(for ins/del: last normal base / first normal base)		 1646
gDNA position
(for ins/del: last normal base / first normal base)		 48169
chromosomal position
(for ins/del: last normal base / first normal base)		 231042276
original gDNA sequence snippet GAATATACGTTGTGAAGGAATGACCCTAGGAGAGCTGCTGA
altered gDNA sequence snippet GAATATACGTTGTGAAGGAACGACCCTAGGAGAGCTGCTGA
original cDNA sequence snippet GAATATACGTTGTGAAGGAATGACCCTAGGAGAGCTGCTGA
altered cDNA sequence snippet GAATATACGTTGTGAAGGAACGACCCTAGGAGAGCTGCTGA
wildtype AA sequence MFTMTRAMEE ALFQHFMHQK LGIAYAIHKP FPFFEGLLDN SIITKRMYME SLEACRNLIP
VSRVVHNILT QLERTFNLSL LVTLFSQINL REYPNLVTIY RSFKRVGASY EWQSRDTPIL
LEAPTGLAEG SSLHTPLALP PPQPPQPSCS PCAPRVSEPG TSSQQSDEIL SESPSPSDPV
LPLPALIQEG RSTSVTNDKL TSKMNAEEDS EEMPSLLTST VQVASDNLIP QIRDKEDPQE
MPHSPLGSMP EIRDNSPEPN DPEEPQEVSS TPSDKKGKKR KRCIWSTPKR RHKKKSLPGG
TASSRHGIQK KLKRVDQVPQ KKDDSTCNST VETRAQKART ECARKSRSEE IIDGTSEMNE
GKRSQKTPST PRRVTQGAAS PGHGIQEKLQ VVDKVTQRKD DSTWNSEVMM RVQKARTKCA
RKSRLKEKKK EKDICSSSKR RFQKNIHRRG KPKSDTVDFH CSKLPVTCGE AKGILYKKKM
KHGSSVKCIR NEDGTWLTPN EFEVEGKGRN AKNWKRNIRC EGMTLGELLK RKNSDECEVC
CQGGQLLCCG TCPRVFHEDC HIPPVEAKRM LWSCTFCRMK RSSGSQQCHH VSKTLERQMQ
PQDQLKCEFL LLKAYCHPQS SFFTGIPFNI RDYGEPFQEA MWLDLVKERL ITEMYTVAWF
VRDMRLMFRN HKTFYKASDF GQVGLDLEAE FEKDLKDVLG FHEANDGGFW TLP*
mutated AA sequence MFTMTRAMEE ALFQHFMHQK LGIAYAIHKP FPFFEGLLDN SIITKRMYME SLEACRNLIP
VSRVVHNILT QLERTFNLSL LVTLFSQINL REYPNLVTIY RSFKRVGASY EWQSRDTPIL
LEAPTGLAEG SSLHTPLALP PPQPPQPSCS PCAPRVSEPG TSSQQSDEIL SESPSPSDPV
LPLPALIQEG RSTSVTNDKL TSKMNAEEDS EEMPSLLTST VQVASDNLIP QIRDKEDPQE
MPHSPLGSMP EIRDNSPEPN DPEEPQEVSS TPSDKKGKKR KRCIWSTPKR RHKKKSLPGG
TASSRHGIQK KLKRVDQVPQ KKDDSTCNST VETRAQKART ECARKSRSEE IIDGTSEMNE
GKRSQKTPST PRRVTQGAAS PGHGIQEKLQ VVDKVTQRKD DSTWNSEVMM RVQKARTKCA
RKSRLKEKKK EKDICSSSKR RFQKNIHRRG KPKSDTVDFH CSKLPVTCGE AKGILYKKKM
KHGSSVKCIR NEDGTWLTPN EFEVEGKGRN AKNWKRNIRC EGTTLGELLK RKNSDECEVC
CQGGQLLCCG TCPRVFHEDC HIPPVEAKRM LWSCTFCRMK RSSGSQQCHH VSKTLERQMQ
PQDQLKCEFL LLKAYCHPQS SFFTGIPFNI RDYGEPFQEA MWLDLVKERL ITEMYTVAWF
VRDMRLMFRN HKTFYKASDF GQVGLDLEAE FEKDLKDVLG FHEANDGGFW TLP*
speed 1.27 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