Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: without_aae, prob: 1 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • known disease mutation at this position (HGMD CM085246)
  • known disease mutation: rs1991 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:93722608G>AN/A show variant in all transcripts   IGV
HGNC symbol ARL13B
Ensembl transcript ID ENST00000539730
Genbank transcript ID N/A
UniProt peptide Q3SXY8
alteration type single base exchange
alteration region intron
DNA changes g.23626G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs121912606
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs1991 (pathogenic for Joubert syndrome 8) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM085246)

known disease mutation at this position, please check HGMD for details (HGMD ID CM085246)
known disease mutation at this position, please check HGMD for details (HGMD ID CM085246)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.4841
6.3051
(flanking)-0.0730.972
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change before start ATG (at aa -153) |
effectgDNA positionscoredetection sequence  exon-intron border
Donor increased23627wt: 0.20 / mu: 0.26wt: ATTCGGGGAATCTGG
mu: ATTCAGGGAATCTGG		 TCGG|ggaa
Donor increased23626wt: 0.65 / mu: 0.95wt: AATTCGGGGAATCTG
mu: AATTCAGGGAATCTG		 TTCG|ggga
Donor increased23617wt: 0.35 / mu: 0.44wt: TGGAATAAGAATTCG
mu: TGGAATAAGAATTCA		 GAAT|aaga
distance from splice site 7820
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
2835NP_BINDGTP (By similarity).might get lost (downstream of altered splice site)
7175NP_BINDGTP (By similarity).might get lost (downstream of altered splice site)
130133NP_BINDGTP (By similarity).might get lost (downstream of altered splice site)
192245COILEDPotential.might get lost (downstream of altered splice site)
369419COMPBIASPro-rich.might get lost (downstream of altered splice site)
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
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 862 / 862
chromosome 3
strand 1
last intron/exon boundary 1235
theoretical NMD boundary in CDS 323
length of CDS 450
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 23626
chromosomal position
(for ins/del: last normal base / first normal base)		 93722608
original gDNA sequence snippet GGGAGGTGGAATAAGAATTCGGGGAATCTGGAAGAATTACT
altered gDNA sequence snippet GGGAGGTGGAATAAGAATTCAGGGAATCTGGAAGAATTACT
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MEKDSDGCHL KHKMEHEQIE TQGQVNHNGQ KNNEFGLVEN YKEALTQQLK NEDETDRPSL
ESANGKKKTK KLRMKRNHRV EPLNIDDCAP ESPTPPPPPP PVGWGTPKVT RLPKLEPLGE
THHNDFYRKP LPPLAVPQRP NSDAHDVIS*
mutated AA sequence N/A
speed 0.90 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