Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999911418432 (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) chr2:96993757C>TN/A show variant in all transcripts   IGV
HGNC symbol ITPRIPL1
Ensembl transcript ID ENST00000536814
Genbank transcript ID NM_001163523
UniProt peptide Q6GPH6
alteration type single base exchange
alteration region CDS
DNA changes c.1364C>T
cDNA.1613C>T
g.2689C>T
AA changes T455M Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 455
frameshift no
known variant Reference ID: rs2279105
databasehomozygous (T/T)heterozygousallele carriers
1000G4289501378
ExAC89181493123849
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.4960.047
2.2210.108
(flanking)-0.6450.097
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased2687wt: 0.25 / mu: 0.49wt: CTCTTGCTACGGCTGCCCCTCACGGACTGGGCCCACAACAT
mu: CTCTTGCTACGGCTGCCCCTCATGGACTGGGCCCACAACAT		 cctc|ACGG
Acc marginally increased2691wt: 0.7691 / mu: 0.8437 (marginal change - not scored)wt: TGCTACGGCTGCCCCTCACGGACTGGGCCCACAACATGCTC
mu: TGCTACGGCTGCCCCTCATGGACTGGGCCCACAACATGCTC		 acgg|ACTG
distance from splice site 335
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      455ALMHLLLRLPLTDWAHNMLSQRLQ
mutated  not conserved    455ALMHLLLRLPLMDWAHNMLSQRL
Ptroglodytes  all identical  ENSPTRG00000012231  471ALMHLLLRLPLTDWAHNMLSQRL
Mmulatta  all identical  ENSMMUG00000023268  462ALMHLLLRLPLTDWAHNMLSQRL
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000074825  455ALMHLLLRLPLTDWQHSMLSLRL
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
125555TOPO_DOMCytoplasmic (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1644 / 1644
position (AA) of stopcodon in wt / mu AA sequence 548 / 548
position of stopcodon in wt / mu cDNA 1893 / 1893
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 250 / 250
chromosome 2
strand 1
last intron/exon boundary 236
theoretical NMD boundary in CDS cannot be calculated, too little distance between start ATG and last intron/exon boundary
length of CDS 1644
coding sequence (CDS) position 1364
cDNA position
(for ins/del: last normal base / first normal base)		 1613
gDNA position
(for ins/del: last normal base / first normal base)		 2689
chromosomal position
(for ins/del: last normal base / first normal base)		 96993757
original gDNA sequence snippet CTTGCTACGGCTGCCCCTCACGGACTGGGCCCACAACATGC
altered gDNA sequence snippet CTTGCTACGGCTGCCCCTCATGGACTGGGCCCACAACATGC
original cDNA sequence snippet CTTGCTACGGCTGCCCCTCACGGACTGGGCCCACAACATGC
altered cDNA sequence snippet CTTGCTACGGCTGCCCCTCATGGACTGGGCCCACAACATGC
wildtype AA sequence MAVISLLFLA VMYVVHHPLM VSDRMDLDTL ARSRQLEKRM SEEMRLLEME FEERKRAAEQ
RQKAENFWTG DTSSDQLVLG KKDMGWPFQA DGQEGPLGWM LGNLWNTGLF CLFLVFELLR
QNMQHEPAFD SSSEEEEEEV RVVPVTSYNW LTDFPSQEAL DSFYKHYVQN AIRDLPCTCE
FVESFVDDLI EACRVLSRQE AHPQLEDCLG IGAAFEKWGT LHETQKFDIL VPIVPPQGTM
FVLEMRDPAL GRRCGCVLVE SECVCKREKL LGDVLCLVHH HRDPSAVLGK CSSSIKAALC
TGFHLDVCKT VQWFRNMMGN AWALVAHKYD FKLSLPPSTT SCKLRLDYRS GRFLSIHLVL
GVQREDTLVY LVSQAPDQEQ LTSVDWPESF VACEHLFLKL VGRFAPENTC HLKCLQIILS
LRQHQSLPHG ASRPILTSYH FKTALMHLLL RLPLTDWAHN MLSQRLQDIL WFLGRGLQQR
SLHHFLIGNN FLPLTIPIPK TFRNAEPVNL FQHLVLNPKA HSQAVEEFQN LLTQVKTLPH
APLAAAP*
mutated AA sequence MAVISLLFLA VMYVVHHPLM VSDRMDLDTL ARSRQLEKRM SEEMRLLEME FEERKRAAEQ
RQKAENFWTG DTSSDQLVLG KKDMGWPFQA DGQEGPLGWM LGNLWNTGLF CLFLVFELLR
QNMQHEPAFD SSSEEEEEEV RVVPVTSYNW LTDFPSQEAL DSFYKHYVQN AIRDLPCTCE
FVESFVDDLI EACRVLSRQE AHPQLEDCLG IGAAFEKWGT LHETQKFDIL VPIVPPQGTM
FVLEMRDPAL GRRCGCVLVE SECVCKREKL LGDVLCLVHH HRDPSAVLGK CSSSIKAALC
TGFHLDVCKT VQWFRNMMGN AWALVAHKYD FKLSLPPSTT SCKLRLDYRS GRFLSIHLVL
GVQREDTLVY LVSQAPDQEQ LTSVDWPESF VACEHLFLKL VGRFAPENTC HLKCLQIILS
LRQHQSLPHG ASRPILTSYH FKTALMHLLL RLPLMDWAHN MLSQRLQDIL WFLGRGLQQR
SLHHFLIGNN FLPLTIPIPK TFRNAEPVNL FQHLVLNPKA HSQAVEEFQN LLTQVKTLPH
APLAAAP*
speed 1.06 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