Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999894654 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM085245)
  • known disease mutation: rs1993 (pathogenic)
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:93755507C>TN/A show variant in all transcripts   IGV
HGNC symbol ARL13B
Ensembl transcript ID ENST00000535334
Genbank transcript ID NM_001174150
UniProt peptide Q3SXY8
alteration type single base exchange
alteration region CDS
DNA changes c.289C>T
cDNA.812C>T
g.56525C>T
AA changes R97C Score: 180 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 97
frameshift no
known variant Reference ID: rs121912608
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs1993 (pathogenic for Joubert syndrome 8) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM085245)

known disease mutation at this position, please check HGMD for details (HGMD ID CM085245)
known disease mutation at this position, please check HGMD for details (HGMD ID CM085245)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1650.996
4.0961
(flanking)5.751
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 92
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      97VIARDFDALNERIQKETTEQRALE
mutated  not conserved    97VIARDFDALNECIQKETTEQRAL
Ptroglodytes  all identical  ENSPTRG00000015129  200VIARDFDALNERIQKETTEQRAL
Mmulatta  all identical  ENSMMUG00000020335  201VIARDFDALNERIQKDTTEQRAL
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000022911  200IIAKDFDALSERIQKDTTEQRAL
Ggallus  all identical  ENSGALG00000015412  201IIAKDFDALNERIQRDTTEQKAY
Trubripes  all identical  ENSTRUG00000013035  200TINLDYEIIAERVSKDTAEQQAQ
Drerio  all identical  ENSDARG00000012763  200NIAKDYEAISERVQKDTAEQKAQ
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000032383  200VIAKDFEALHERVQKETAEQRAQ
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 978 / 978
position (AA) of stopcodon in wt / mu AA sequence 326 / 326
position of stopcodon in wt / mu cDNA 1501 / 1501
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 524 / 524
chromosome 3
strand 1
last intron/exon boundary 1425
theoretical NMD boundary in CDS 851
length of CDS 978
coding sequence (CDS) position 289
cDNA position
(for ins/del: last normal base / first normal base)		 812
gDNA position
(for ins/del: last normal base / first normal base)		 56525
chromosomal position
(for ins/del: last normal base / first normal base)		 93755507
original gDNA sequence snippet ACTTTGATGCCTTAAATGAACGCATCCAAAAAGAGACAACA
altered gDNA sequence snippet ACTTTGATGCCTTAAATGAATGCATCCAAAAAGAGACAACA
original cDNA sequence snippet ACTTTGATGCCTTAAATGAACGCATCCAAAAAGAGACAACA
altered cDNA sequence snippet ACTTTGATGCCTTAAATGAATGCATCCAAAAAGAGACAACA
wildtype AA sequence MEETKEAMSE MLRHPRISGK PILVLANKQD KEGALGEADV IECLSLEKLV NEHKCLCQIE
PCSAISGYGK KIDKSIKKGL YWLLHVIARD FDALNERIQK ETTEQRALEE QEKQERAERV
RKLREERKQN EQEQAELDGT SGLAELDPEP TNPFQPIASV IIENEGKLER EKKNQKMEKD
SDGCHLKHKM EHEQIETQGQ VNHNGQKNNE FGLVENYKEA LTQQLKNEDE TDRPSLESAN
GKKKTKKLRM KRNHRVEPLN IDDCAPESPT PPPPPPPVGW GTPKVTRLPK LEPLGETHHN
DFYRKPLPPL AVPQRPNSDA HDVIS*
mutated AA sequence MEETKEAMSE MLRHPRISGK PILVLANKQD KEGALGEADV IECLSLEKLV NEHKCLCQIE
PCSAISGYGK KIDKSIKKGL YWLLHVIARD FDALNECIQK ETTEQRALEE QEKQERAERV
RKLREERKQN EQEQAELDGT SGLAELDPEP TNPFQPIASV IIENEGKLER EKKNQKMEKD
SDGCHLKHKM EHEQIETQGQ VNHNGQKNNE FGLVENYKEA LTQQLKNEDE TDRPSLESAN
GKKKTKKLRM KRNHRVEPLN IDDCAPESPT PPPPPPPVGW GTPKVTRLPK LEPLGETHHN
DFYRKPLPPL AVPQRPNSDA HDVIS*
speed 0.92 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