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 CM002780)
  • known disease mutation: rs7684 (pathogenic)
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr11:117693139C>TN/A show variant in all transcripts   IGV
HGNC symbol FXYD6-FXYD2
Ensembl transcript ID ENST00000579800
Genbank transcript ID NM_001243598
UniProt peptide Q9H0Q3
alteration type single base exchange
alteration region intron
DNA changes g.54244G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs28938168
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs7684 (pathogenic for Renal hypomagnesemia 2) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM002780)

known disease mutation at this position, please check HGMD for details (HGMD ID CM002780)
known disease mutation at this position, please check HGMD for details (HGMD ID CM002780)
regulatory features CTCF, Transcription Factor, CCCTC-binding factor
DNase1, Open Chromatin, DNase1 Hypersensitive Site
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
phyloP / phastCons
PhyloPPhastCons
(flanking)3.0920.987
3.0921
(flanking)0.4651
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased54244wt: 0.8904 / mu: 0.9018 (marginal change - not scored)wt: CTGGACTGGCCTTCATCGTGGGGCTCCTCATCCTCCTCAGT
mu: CTGGACTGGCCTTCATCGTGAGGCTCCTCATCCTCCTCAGT		 gtgg|GGCT
Donor gained542390.49mu: CTTCATCGTGAGGCT TCAT|cgtg
Donor gained542400.96mu: TTCATCGTGAGGCTC CATC|gtga
distance from splice site 255
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features no protein features affected
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 82 / 82
chromosome 11
strand -1
last intron/exon boundary 461
theoretical NMD boundary in CDS 329
length of CDS 339
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)		 54244
chromosomal position
(for ins/del: last normal base / first normal base)		 117693139
original gDNA sequence snippet CTGGACTGGCCTTCATCGTGGGGCTCCTCATCCTCCTCAGT
altered gDNA sequence snippet CTGGACTGGCCTTCATCGTGAGGCTCCTCATCCTCCTCAGT
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MELVLVFLCS LLAPMVLASA AEKEKEMDPF HYDYQTLRIG GLVFAVVLFS VGILLILRPQ
EMRKPRWRTS SPPMQQSPRK QRTEVQPSGG RRQPQGGRGP VLLWQKIPLW GQ*
mutated AA sequence N/A
speed 0.41 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