Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999999 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM062783)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr21:35821821T>CN/A show variant in all transcripts   IGV
HGNC symbol KCNE1
Ensembl transcript ID ENST00000399284
Genbank transcript ID N/A
UniProt peptide P15382
alteration type single base exchange
alteration region CDS
DNA changes c.112A>G
cDNA.388A>G
g.62753A>G
AA changes S38G Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 38
frameshift no
known variant Reference ID: rs1805127
databasehomozygous (C/C)heterozygousallele carriers
1000G114310892232
ExAC25542-183177225

known disease mutation at this position, please check HGMD for details (HGMD ID CM062783)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.4030
0.0160
(flanking)-3.6380
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased62749wt: 0.53 / mu: 0.63wt: CTGGCCCGCAGGTCCCCCCGCAGCAGTGACGGCAAGCTGGA
mu: CTGGCCCGCAGGTCCCCCCGCAGCGGTGACGGCAAGCTGGA		 ccgc|AGCA
Donor marginally increased62750wt: 0.9292 / mu: 0.9364 (marginal change - not scored)wt: CCCGCAGCAGTGACG
mu: CCCGCAGCGGTGACG		 CGCA|gcag
Donor gained627470.80mu: CCCCCCGCAGCGGTG CCCC|gcag
distance from splice site 162
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      38MSGLARRSPRSSDGKLEALYVLMV
mutated  not conserved    38MSGLARRSPRSGDGKLEALYVLM
Ptroglodytes  not conserved  ENSPTRG00000013880  38MSGLARRSPRSDDGKLEALYVLM
Mmulatta  not conserved  ENSMMUG00000008680  59MSGLARRSPRSDDGKLEALYVLM
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000039639  38VSGLARKSQLRDDSKLEALYILM
Ggallus  all conserved  ENSGALG00000016012  39TNSTAPSTVGSTGGSLEIIYVLM
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000003637  38GASLGAREELFNSNGGPMEVVYILL
protein features
start (aa)end (aa)featuredetails 
4466TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
4671HELIXmight get lost (downstream of altered splice site)
67129TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
6969MUTAGENK->H: Lowers current 2-fold and leads to faster deactivation of KCNQ1/KCNE1 channel.might get lost (downstream of altered splice site)
7781TURNmight get lost (downstream of altered splice site)
8486TURNmight get lost (downstream of altered splice site)
92105HELIXmight get lost (downstream of altered splice site)
102102MOD_RESPhosphoserine; by PKC (By similarity).might get lost (downstream of altered splice site)
114116STRANDmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 390 / 390
position (AA) of stopcodon in wt / mu AA sequence 130 / 130
position of stopcodon in wt / mu cDNA 666 / 666
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 277 / 277
chromosome 21
strand -1
last intron/exon boundary 227
theoretical NMD boundary in CDS cannot be calculated, too little distance between start ATG and last intron/exon boundary
length of CDS 390
coding sequence (CDS) position 112
cDNA position
(for ins/del: last normal base / first normal base)		 388
gDNA position
(for ins/del: last normal base / first normal base)		 62753
chromosomal position
(for ins/del: last normal base / first normal base)		 35821821
original gDNA sequence snippet CCCGCAGGTCCCCCCGCAGCAGTGACGGCAAGCTGGAGGCC
altered gDNA sequence snippet CCCGCAGGTCCCCCCGCAGCGGTGACGGCAAGCTGGAGGCC
original cDNA sequence snippet CCCGCAGGTCCCCCCGCAGCAGTGACGGCAAGCTGGAGGCC
altered cDNA sequence snippet CCCGCAGGTCCCCCCGCAGCGGTGACGGCAAGCTGGAGGCC
wildtype AA sequence MILSNTTAVT PFLTKLWQET VQQGGNMSGL ARRSPRSSDG KLEALYVLMV LGFFGFFTLG
IMLSYIRSKK LEHSNDPFNV YIESDAWQEK DKAYVQARVL ESYRSCYVVE NHLAIEQPNT
HLPETKPSP*
mutated AA sequence MILSNTTAVT PFLTKLWQET VQQGGNMSGL ARRSPRSGDG KLEALYVLMV LGFFGFFTLG
IMLSYIRSKK LEHSNDPFNV YIESDAWQEK DKAYVQARVL ESYRSCYVVE NHLAIEQPNT
HLPETKPSP*
speed 1.05 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