Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.99999999999705 (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) chr2:231072709C>TN/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.895G>A
cDNA.973G>A
g.17736G>A
AA changes G299R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 299
frameshift no
known variant Reference ID: rs1365776
databasehomozygous (T/T)heterozygousallele carriers
1000G16696812350
ExAC24440-161138327
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.1940.004
-0.2370.001
(flanking)0.2720.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites alteration within used splice site, likely to disturb normal splicing
effectgDNA positionscoredetection sequence  exon-intron border
Donor lost17739sequence motif lost- wt: GGAG|gtaa
 mu: AGAG.gtaa
Donor increased17734wt: 0.71 / mu: 0.80wt: CCTCCCAGGAGGTAA
mu: CCTCCCAAGAGGTAA		 TCCC|agga
Donor increased17733wt: 0.24 / mu: 0.32wt: GCCTCCCAGGAGGTA
mu: GCCTCCCAAGAGGTA		 CTCC|cagg
Donor marginally increased17738wt: 0.9793 / mu: 0.9924 (marginal change - not scored)wt: CCAGGAGGTAAGATG
mu: CCAAGAGGTAAGATG		 AGGA|ggta
Donor gained177310.93mu: AAGCCTCCCAAGAGG GCCT|ccca
distance from splice site 4
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      299PKRRHKKKSLPGGTASSRHGIQKK
mutated  not conserved    299PKRRHKKKSLPRGTASSRHGIQK
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000070034  269SKRRRQKKKPRQDEMMGVASPGHG
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000055359  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no alignment  ENSXETG00000032669  n/a
protein features
start (aa)end (aa)featuredetails 
428444MOTIFNuclear localization signal (Potential).might get lost (downstream of altered splice site)
454535DOMAINSAND.might get lost (downstream of altered splice site)
464464CONFLICTL -> S (in Ref. 1; AAA18806).might get lost (downstream of altered splice site)
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 895
cDNA position
(for ins/del: last normal base / first normal base)		 973
gDNA position
(for ins/del: last normal base / first normal base)		 17736
chromosomal position
(for ins/del: last normal base / first normal base)		 231072709
original gDNA sequence snippet ATAAGAAAAAAAGCCTCCCAGGAGGTAAGATGAGAGTACAA
altered gDNA sequence snippet ATAAGAAAAAAAGCCTCCCAAGAGGTAAGATGAGAGTACAA
original cDNA sequence snippet ATAAGAAAAAAAGCCTCCCAGGAGGGACAGCCTCATCTAGA
altered cDNA sequence snippet ATAAGAAAAAAAGCCTCCCAAGAGGGACAGCCTCATCTAGA
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 RHKKKSLPRG
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*
speed 0.92 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