Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.99999999997974 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM041244)
  • known disease mutation: rs7810 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:216209551A>GN/A show variant in all transcripts   IGV
HGNC symbol ATIC
Ensembl transcript ID ENST00000540518
Genbank transcript ID N/A
UniProt peptide P31939
alteration type single base exchange
alteration region CDS
DNA changes c.1100A>G
cDNA.1577A>G
g.33012A>G
AA changes K367R Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 367
frameshift no
known variant Reference ID: rs121434478
databasehomozygous (G/G)heterozygousallele carriers
1000G---
ExAC022

known disease mutation: rs7810 (pathogenic for AICAR transformylase/IMP cyclohydrolase deficiency) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM041244)

known disease mutation at this position, please check HGMD for details (HGMD ID CM041244)
known disease mutation at this position, please check HGMD for details (HGMD ID CM041244)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)5.1951
5.1951
(flanking)0.9121
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained330110.90mu: CTGTCAGGTACACTC GTCA|ggta
distance from splice site 44
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      367LRDLIVATIAVKYTQSNSVCYAKN
mutated  all conserved    367VATIAVRYTQSNSVCYAK
Ptroglodytes  all identical  ENSPTRG00000012891  426VATIAVKYTQSNSVCYAK
Mmulatta  all identical  ENSMMUG00000012318  425VATIAVKYTQSNSVCYAK
Fcatus  all identical  ENSFCAG00000009216  416LRDLIVATIAVKYTQSNSVCYAK
Mmusculus  all identical  ENSMUSG00000026192  426VATVAVKYTQSNSVCYAK
Ggallus  all identical  ENSGALG00000003570  427VASIAVKYTQSNSVCYAK
Trubripes  all identical  ENSTRUG00000017131  430RDLTVATIALKYTQSNSVCYAK
Drerio  all identical  ENSDARG00000016706  424VASIAVKYTQSNSVCYAK
Dmelanogaster  all identical  FBgn0039241  424VATIALKYTQSNSVCYAR
Celegans  all identical  C55F2.1  428DDLIVATIALKYAQSNSVCFAH
Xtropicalis  all identical  ENSXETG00000025087  433VRDLIVATIALKYTQSNSVCYAK
protein features
start (aa)end (aa)featuredetails 
363367STRANDlost
375381STRANDmight get lost (downstream of altered splice site)
384389STRANDmight get lost (downstream of altered splice site)
397400HELIXmight get lost (downstream of altered splice site)
412426HELIXmight get lost (downstream of altered splice site)
431431BINDINGAICAR; shared with dimeric partner.might get lost (downstream of altered splice site)
433437STRANDmight get lost (downstream of altered splice site)
440445STRANDmight get lost (downstream of altered splice site)
451451BINDINGAICAR; shared with dimeric partner.might get lost (downstream of altered splice site)
451467HELIXmight get lost (downstream of altered splice site)
471474HELIXmight get lost (downstream of altered splice site)
486496HELIXmight get lost (downstream of altered splice site)
503509HELIXmight get lost (downstream of altered splice site)
512514STRANDmight get lost (downstream of altered splice site)
521528HELIXmight get lost (downstream of altered splice site)
534540STRANDmight get lost (downstream of altered splice site)
541541BINDINGAICAR; via carbonyl oxygen; shared with dimeric partner.might get lost (downstream of altered splice site)
543545STRANDmight get lost (downstream of altered splice site)
546552HELIXmight get lost (downstream of altered splice site)
553555TURNmight get lost (downstream of altered splice site)
556562STRANDmight get lost (downstream of altered splice site)
568578HELIXmight get lost (downstream of altered splice site)
581586STRANDmight get lost (downstream of altered splice site)
588588BINDINGAICAR; shared with dimeric partner.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1602 / 1602
position (AA) of stopcodon in wt / mu AA sequence 534 / 534
position of stopcodon in wt / mu cDNA 2079 / 2079
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 478 / 478
chromosome 2
strand 1
last intron/exon boundary 1960
theoretical NMD boundary in CDS 1432
length of CDS 1602
coding sequence (CDS) position 1100
cDNA position
(for ins/del: last normal base / first normal base)		 1577
gDNA position
(for ins/del: last normal base / first normal base)		 33012
chromosomal position
(for ins/del: last normal base / first normal base)		 216209551
original gDNA sequence snippet CGTAGCCACCATTGCTGTCAAGTACACTCAGTCTAACTCTG
altered gDNA sequence snippet CGTAGCCACCATTGCTGTCAGGTACACTCAGTCTAACTCTG
original cDNA sequence snippet CGTAGCCACCATTGCTGTCAAGTACACTCAGTCTAACTCTG
altered cDNA sequence snippet CGTAGCCACCATTGCTGTCAGGTACACTCAGTCTAACTCTG
wildtype AA sequence MLGGRVKTLH PAVHAGILAR NIPEDNADMA RLDFNLIRVV ACNLYPFVKT VASPGVTVEE
AVEQIDIGGV TLLRAAAKNH ARVTVVCEPE DYVVVSTEMQ SSESKDTSLE TRRQLALKAF
THTAQYDEAI SDYFRKQYSK GVSQMPLRYG MNPHQTPAQL YTLQPKLPIT VLNGAPGFIN
LCDALNAWQL VKELKEALGI PAAASFKHVS PAGAAVGIPL SEDEAKVCMV YDLYKTLTPI
SAAYARARGA DRMSSFGDFV ALSDVCDVPT AKIISREVSD GIIAPGYEEE ALTILSKKKN
GNYCVLQMDQ SYKPDENEVR TLFGLHLSQK RNNGVVDKSL FSNVVTKNKD LPESALRDLI
VATIAVKYTQ SNSVCYAKNG QVIGIGAGQQ SRIHCTRLAG DKANYWWLRH HPQVLSMKFK
TGVKRAEISN AIDQYVTGTI GEDEDLIKWK ALFEEVPELL TEAEKKEWVE KLTEVSISSD
AFFPFRDNVD RAKRSGVAYI AAPSGSAADK VVIEACDELG IILAHTNLRL FHH*
mutated AA sequence MLGGRVKTLH PAVHAGILAR NIPEDNADMA RLDFNLIRVV ACNLYPFVKT VASPGVTVEE
AVEQIDIGGV TLLRAAAKNH ARVTVVCEPE DYVVVSTEMQ SSESKDTSLE TRRQLALKAF
THTAQYDEAI SDYFRKQYSK GVSQMPLRYG MNPHQTPAQL YTLQPKLPIT VLNGAPGFIN
LCDALNAWQL VKELKEALGI PAAASFKHVS PAGAAVGIPL SEDEAKVCMV YDLYKTLTPI
SAAYARARGA DRMSSFGDFV ALSDVCDVPT AKIISREVSD GIIAPGYEEE ALTILSKKKN
GNYCVLQMDQ SYKPDENEVR TLFGLHLSQK RNNGVVDKSL FSNVVTKNKD LPESALRDLI
VATIAVRYTQ SNSVCYAKNG QVIGIGAGQQ SRIHCTRLAG DKANYWWLRH HPQVLSMKFK
TGVKRAEISN AIDQYVTGTI GEDEDLIKWK ALFEEVPELL TEAEKKEWVE KLTEVSISSD
AFFPFRDNVD RAKRSGVAYI AAPSGSAADK VVIEACDELG IILAHTNLRL FHH*
speed 0.86 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