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 CM960297)
  • known disease mutation: rs18372 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:7357660G>AN/A show variant in all transcripts   IGV
HGNC symbol CHRNB1
Ensembl transcript ID ENST00000576360
Genbank transcript ID N/A
UniProt peptide P11230
alteration type single base exchange
alteration region intron
DNA changes g.9281G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs137852810
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs18372 (pathogenic for Myasthenic syndrome, congenital, 2a, slow-channel|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM960297)

known disease mutation at this position, please check HGMD for details (HGMD ID CM960297)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960297)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.0330.996
5.1521
(flanking)4.2551
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 increased9281wt: 0.8375 / mu: 0.8615 (marginal change - not scored)wt: TTGCCCTGCTGACCCTTACTGTGTTCCTGCTGCTGCTGGCT
mu: TTGCCCTGCTGACCCTTACTATGTTCCTGCTGCTGCTGGCT		 actg|TGTT
Acc marginally increased9292wt: 0.8128 / mu: 0.8310 (marginal change - not scored)wt: ACCCTTACTGTGTTCCTGCTGCTGCTGGCTGACAAAGTACC
mu: ACCCTTACTATGTTCCTGCTGCTGCTGGCTGACAAAGTACC		 gctg|CTGC
Acc increased9284wt: 0.78 / mu: 0.92wt: CCCTGCTGACCCTTACTGTGTTCCTGCTGCTGCTGGCTGAC
mu: CCCTGCTGACCCTTACTATGTTCCTGCTGCTGCTGGCTGAC		 gtgt|TCCT
Acc marginally increased9271wt: 0.7938 / mu: 0.8244 (marginal change - not scored)wt: CTCTCAATCTTTGCCCTGCTGACCCTTACTGTGTTCCTGCT
mu: CTCTCAATCTTTGCCCTGCTGACCCTTACTATGTTCCTGCT		 gctg|ACCC
Donor gained92770.34mu: ACCCTTACTATGTTC CCTT|acta
distance from splice site 103
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
24244TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
210210CONFLICTI -> N (in Ref. 1; CAA32939).might get lost (downstream of altered splice site)
245269TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
277295TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
311332TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
333469TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
390390MOD_RESPhosphotyrosine; by Tyr-kinases (By similarity).might get lost (downstream of altered splice site)
470488TRANSMEMHelical; (Potential).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 103 / 103
chromosome 17
strand 1
last intron/exon boundary 1105
theoretical NMD boundary in CDS 952
length of CDS 1143
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)		 9281
chromosomal position
(for ins/del: last normal base / first normal base)		 7357660
original gDNA sequence snippet TTGCCCTGCTGACCCTTACTGTGTTCCTGCTGCTGCTGGCT
altered gDNA sequence snippet TTGCCCTGCTGACCCTTACTATGTTCCTGCTGCTGCTGGCT
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MSTKVYLDLE WTDYRLSWDP AEHDGIDSLR ITAESVWLPD VVLLNNNDGN FDVALDISVV
VSSDGSVRWQ PPGIYRSSCS IQVTYFPFDW QNCTMVFSSY SYDSSEVSLQ TGLGPDGQGH
QEIHIHEGTF IENGQWEIIH KPSRLIQPPG DPRGGREGQR QEVIFYLIIR RKPLFYLVNV
IAPCILITLL AIFVFYLPPD AVILSVVVLN LHHRSPHTHQ MPLWVRQIFI HKLPLYLRLK
RPKPERDLMP EPPHCSSPGS GWGRGTDEYF IRKPPSDFLF PKPNRFQPEL SAPDLRRFID
GPNRAVALLP ELREVVSSIS YIARQLQEQE DHDALKEDWQ FVAMVVDRLF LWTFIIFTSV
GTLVIFLDAT YHLPPPDPFP *
mutated AA sequence N/A
speed 0.46 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