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 ENST00000439118
Genbank transcript ID NM_001008949
UniProt peptide Q6GPH6
alteration type single base exchange
alteration region CDS
DNA changes c.1388C>T
cDNA.1639C>T
g.2689C>T
AA changes T463M Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 463
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 308
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      463ALMHLLLRLPLTDWAHNMLSQRLQ
mutated  not conserved    463ALMHLLLRLPLMDWAHNMLSQRL
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 1668 / 1668
position (AA) of stopcodon in wt / mu AA sequence 556 / 556
position of stopcodon in wt / mu cDNA 1919 / 1919
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 252 / 252
chromosome 2
strand 1
last intron/exon boundary 262
theoretical NMD boundary in CDS cannot be calculated, too little distance between start ATG and last intron/exon boundary
length of CDS 1668
coding sequence (CDS) position 1388
cDNA position
(for ins/del: last normal base / first normal base)		 1639
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 MNVDAEASMA VISLLFLAVM YVVHHPLMVS DRMDLDTLAR SRQLEKRMSE EMRLLEMEFE
ERKRAAEQRQ KAENFWTGDT SSDQLVLGKK DMGWPFQADG QEGPLGWMLG NLWNTGLFCL
FLVFELLRQN MQHEPAFDSS SEEEEEEVRV VPVTSYNWLT DFPSQEALDS FYKHYVQNAI
RDLPCTCEFV ESFVDDLIEA CRVLSRQEAH PQLEDCLGIG AAFEKWGTLH ETQKFDILVP
IVPPQGTMFV LEMRDPALGR RCGCVLVESE CVCKREKLLG DVLCLVHHHR DPSAVLGKCS
SSIKAALCTG FHLDVCKTVQ WFRNMMGNAW ALVAHKYDFK LSLPPSTTSC KLRLDYRSGR
FLSIHLVLGV QREDTLVYLV SQAPDQEQLT SVDWPESFVA CEHLFLKLVG RFAPENTCHL
KCLQIILSLR QHQSLPHGAS RPILTSYHFK TALMHLLLRL PLTDWAHNML SQRLQDILWF
LGRGLQQRSL HHFLIGNNFL PLTIPIPKTF RNAEPVNLFQ HLVLNPKAHS QAVEEFQNLL
TQVKTLPHAP LAAAP*
mutated AA sequence MNVDAEASMA VISLLFLAVM YVVHHPLMVS DRMDLDTLAR SRQLEKRMSE EMRLLEMEFE
ERKRAAEQRQ KAENFWTGDT SSDQLVLGKK DMGWPFQADG QEGPLGWMLG NLWNTGLFCL
FLVFELLRQN MQHEPAFDSS SEEEEEEVRV VPVTSYNWLT DFPSQEALDS FYKHYVQNAI
RDLPCTCEFV ESFVDDLIEA CRVLSRQEAH PQLEDCLGIG AAFEKWGTLH ETQKFDILVP
IVPPQGTMFV LEMRDPALGR RCGCVLVESE CVCKREKLLG DVLCLVHHHR DPSAVLGKCS
SSIKAALCTG FHLDVCKTVQ WFRNMMGNAW ALVAHKYDFK LSLPPSTTSC KLRLDYRSGR
FLSIHLVLGV QREDTLVYLV SQAPDQEQLT SVDWPESFVA CEHLFLKLVG RFAPENTCHL
KCLQIILSLR QHQSLPHGAS RPILTSYHFK TALMHLLLRL PLMDWAHNML SQRLQDILWF
LGRGLQQRSL HHFLIGNNFL PLTIPIPKTF RNAEPVNLFQ HLVLNPKAHS QAVEEFQNLL
TQVKTLPHAP LAAAP*
speed 1.21 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