Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999984944 (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 ENST00000236959
Genbank transcript ID NM_004044
UniProt peptide P31939
alteration type single base exchange
alteration region CDS
DNA changes c.1277A>G
cDNA.1603A>G
g.33012A>G
AA changes K426R Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 426
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      426LRDLIVATIAVKYTQSNSVCYAKN
mutated  all conserved    426ATIAVRYTQSNSVCYAK
Ptroglodytes  all identical  ENSPTRG00000012891  426ATIAVKYTQSNSVCYAK
Mmulatta  all identical  ENSMMUG00000012318  425ATIAVKYTQSNSVCYAK
Fcatus  all identical  ENSFCAG00000009216  416LRDLIVATIAVKYTQSNSVCYAK
Mmusculus  all identical  ENSMUSG00000026192  426ATVAVKYTQSNSVCYAK
Ggallus  all identical  ENSGALG00000003570  427VKYTQSNSVCYAK
Trubripes  all identical  ENSTRUG00000017131  430DLTVATIALKYTQSNSVCYAK
Drerio  all identical  ENSDARG00000016706  424VKYTQSNSVCYAK
Dmelanogaster  all identical  FBgn0039241  424ATIALKYTQSNSVCYAR
Celegans  all identical  C55F2.1  428TIALKYAQSNSVCFAH
Xtropicalis  all identical  ENSXETG00000025087  433VATIALKYTQSNSVCYAK
protein features
start (aa)end (aa)featuredetails 
412426HELIXlost
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 1779 / 1779
position (AA) of stopcodon in wt / mu AA sequence 593 / 593
position of stopcodon in wt / mu cDNA 2105 / 2105
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 327 / 327
chromosome 2
strand 1
last intron/exon boundary 1986
theoretical NMD boundary in CDS 1609
length of CDS 1779
coding sequence (CDS) position 1277
cDNA position
(for ins/del: last normal base / first normal base)		 1603
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 MAPGQLALFS VSDKTGLVEF ARNLTALGLN LVASGGTAKA LRDAGLAVRD VSELTGFPEM
LGGRVKTLHP AVHAGILARN IPEDNADMAR LDFNLIRVVA CNLYPFVKTV ASPGVTVEEA
VEQIDIGGVT LLRAAAKNHA RVTVVCEPED YVVVSTEMQS SESKDTSLET RRQLALKAFT
HTAQYDEAIS DYFRKQYSKG VSQMPLRYGM NPHQTPAQLY TLQPKLPITV LNGAPGFINL
CDALNAWQLV KELKEALGIP AAASFKHVSP AGAAVGIPLS EDEAKVCMVY DLYKTLTPIS
AAYARARGAD RMSSFGDFVA LSDVCDVPTA KIISREVSDG IIAPGYEEEA LTILSKKKNG
NYCVLQMDQS YKPDENEVRT LFGLHLSQKR NNGVVDKSLF SNVVTKNKDL PESALRDLIV
ATIAVKYTQS NSVCYAKNGQ VIGIGAGQQS RIHCTRLAGD KANYWWLRHH PQVLSMKFKT
GVKRAEISNA IDQYVTGTIG EDEDLIKWKA LFEEVPELLT EAEKKEWVEK LTEVSISSDA
FFPFRDNVDR AKRSGVAYIA APSGSAADKV VIEACDELGI ILAHTNLRLF HH*
mutated AA sequence MAPGQLALFS VSDKTGLVEF ARNLTALGLN LVASGGTAKA LRDAGLAVRD VSELTGFPEM
LGGRVKTLHP AVHAGILARN IPEDNADMAR LDFNLIRVVA CNLYPFVKTV ASPGVTVEEA
VEQIDIGGVT LLRAAAKNHA RVTVVCEPED YVVVSTEMQS SESKDTSLET RRQLALKAFT
HTAQYDEAIS DYFRKQYSKG VSQMPLRYGM NPHQTPAQLY TLQPKLPITV LNGAPGFINL
CDALNAWQLV KELKEALGIP AAASFKHVSP AGAAVGIPLS EDEAKVCMVY DLYKTLTPIS
AAYARARGAD RMSSFGDFVA LSDVCDVPTA KIISREVSDG IIAPGYEEEA LTILSKKKNG
NYCVLQMDQS YKPDENEVRT LFGLHLSQKR NNGVVDKSLF SNVVTKNKDL PESALRDLIV
ATIAVRYTQS NSVCYAKNGQ VIGIGAGQQS RIHCTRLAGD KANYWWLRHH PQVLSMKFKT
GVKRAEISNA IDQYVTGTIG EDEDLIKWKA LFEEVPELLT EAEKKEWVEK LTEVSISSDA
FFPFRDNVDR AKRSGVAYIA APSGSAADKV VIEACDELGI ILAHTNLRLF HH*
speed 0.81 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