Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999845074606 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM053094)
  • known disease mutation: rs18067 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:148459667C>TN/A show variant in all transcripts   IGV
HGNC symbol AGTR1
Ensembl transcript ID ENST00000475347
Genbank transcript ID N/A
UniProt peptide P30556
alteration type single base exchange
alteration region CDS
DNA changes c.845C>T
cDNA.1302C>T
g.44097C>T
AA changes T282M Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 282
frameshift no
known variant Reference ID: rs104893677
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs18067 (pathogenic for Renal dysplasia) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM053094)

known disease mutation at this position, please check HGMD for details (HGMD ID CM053094)
known disease mutation at this position, please check HGMD for details (HGMD ID CM053094)
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)3.6171
4.3861
(flanking)-3.4290.007
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 368
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      282IRDCRIADIVDTAMPITICIAYFN
mutated  not conserved    282IRDCRIADIVDMAMPITICIAYF
Ptroglodytes  all identical  ENSPTRG00000015503  282IRDCRIADIVDTAMPITICIAYF
Mmulatta  all identical  ENSMMUG00000020680  282IRDCRISDIVDTAMPITICIAYF
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000049115  282IHDCKIADIVDTAMPITICIAYF
Ggallus  all identical  ENSGALG00000024000  282ITDCKITDIVDTAMPFTICIAYF
Trubripes  all identical  ENSTRUG00000017757  288VQNCPLLDIIDTAMPFTICIAYV
Drerio  all identical  ENSDARG00000018616  281ITSCDVVDIIDTGMPFTICIAFF
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000016079  281IQNCKIYDIVDTGMPITICIAYF
protein features
start (aa)end (aa)featuredetails 
276296TRANSMEMHelical; Name=7; (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1080 / 1080
position (AA) of stopcodon in wt / mu AA sequence 360 / 360
position of stopcodon in wt / mu cDNA 1537 / 1537
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 458 / 458
chromosome 3
strand 1
last intron/exon boundary 411
theoretical NMD boundary in CDS cannot be calculated, too little distance between start ATG and last intron/exon boundary
length of CDS 1080
coding sequence (CDS) position 845
cDNA position
(for ins/del: last normal base / first normal base)		 1302
gDNA position
(for ins/del: last normal base / first normal base)		 44097
chromosomal position
(for ins/del: last normal base / first normal base)		 148459667
original gDNA sequence snippet AATTGCAGATATTGTGGACACGGCCATGCCTATCACCATTT
altered gDNA sequence snippet AATTGCAGATATTGTGGACATGGCCATGCCTATCACCATTT
original cDNA sequence snippet AATTGCAGATATTGTGGACACGGCCATGCCTATCACCATTT
altered cDNA sequence snippet AATTGCAGATATTGTGGACATGGCCATGCCTATCACCATTT
wildtype AA sequence MILNSSTEDG IKRIQDDCPK AGRHNYIFVM IPTLYSIIFV VGIFGNSLVV IVIYFYMKLK
TVASVFLLNL ALADLCFLLT LPLWAVYTAM EYRWPFGNYL CKIASASVSF NLYASVFLLT
CLSIDRYLAI VHPMKSRLRR TMLVAKVTCI IIWLLAGLAS LPAIIHRNVF FIENTNITVC
AFHYESQNST LPIGLGLTKN ILGFLFPFLI ILTSYTLIWK ALKKAYEIQK NKPRNDDIFK
IIMAIVLFFF FSWIPHQIFT FLDVLIQLGI IRDCRIADIV DTAMPITICI AYFNNCLNPL
FYGFLGKKFK RYFLQLLKYI PPKAKSHSNL STKMSTLSYR PSDNVSSSTK KPAPCFEVE*
mutated AA sequence MILNSSTEDG IKRIQDDCPK AGRHNYIFVM IPTLYSIIFV VGIFGNSLVV IVIYFYMKLK
TVASVFLLNL ALADLCFLLT LPLWAVYTAM EYRWPFGNYL CKIASASVSF NLYASVFLLT
CLSIDRYLAI VHPMKSRLRR TMLVAKVTCI IIWLLAGLAS LPAIIHRNVF FIENTNITVC
AFHYESQNST LPIGLGLTKN ILGFLFPFLI ILTSYTLIWK ALKKAYEIQK NKPRNDDIFK
IIMAIVLFFF FSWIPHQIFT FLDVLIQLGI IRDCRIADIV DMAMPITICI AYFNNCLNPL
FYGFLGKKFK RYFLQLLKYI PPKAKSHSNL STKMSTLSYR PSDNVSSSTK KPAPCFEVE*
speed 0.52 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