Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999343998144 (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 CM078157)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr11:17408630C>TN/A show variant in all transcripts   IGV
HGNC symbol KCNJ11
Ensembl transcript ID ENST00000528731
Genbank transcript ID NM_001166290
UniProt peptide Q14654
alteration type single base exchange
alteration region CDS
DNA changes c.748G>A
cDNA.922G>A
g.2249G>A
AA changes V250I Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 250
frameshift no
known variant Reference ID: rs5215
databasehomozygous (T/T)heterozygousallele carriers
1000G13779052282
ExAC25728-186897039

known disease mutation at this position, please check HGMD for details (HGMD ID CM078157)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
E2F6, Transcription Factor, E2F6 Transcription Factor Binding
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
CTCF, Transcription Factor, CCCTC-binding factor
phyloP / phastCons
PhyloPPhastCons
(flanking)2.5140.973
-0.5940.223
(flanking)0.2730.331
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased2249wt: 0.9827 / mu: 0.9923 (marginal change - not scored)wt: ACACCGTCAAAGTGC
mu: ACACCATCAAAGTGC		 ACCG|tcaa
distance from splice site 764
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      250YSVDYSKFGNTVKVPTPLCTARQL
mutated  all conserved    250VDYSKFGNTIKVPTPLCTARQ
Ptroglodytes  no homologue    
Mmulatta  all conserved  ENSMMUG00000023580  337VDYSKFGNTIKVPTPLCTARQ
Fcatus  all conserved  ENSFCAG00000007305  244GNTIKVPTPLCTARQ
Mmusculus  all conserved  ENSMUSG00000096146  337VDYSKFGNTIKVPTPLCTARQ
Ggallus  all identical  ENSGALG00000020505  235YSVDYSKFGNTVKVPTP
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000051880  336VDYSKFGNTVKVATPNSSART
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
167390TOPO_DOMCytoplasmic (By similarity).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 912 / 912
position (AA) of stopcodon in wt / mu AA sequence 304 / 304
position of stopcodon in wt / mu cDNA 1086 / 1086
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 175 / 175
chromosome 11
strand -1
last intron/exon boundary 159
theoretical NMD boundary in CDS cannot be calculated, too little distance between start ATG and last intron/exon boundary
length of CDS 912
coding sequence (CDS) position 748
cDNA position
(for ins/del: last normal base / first normal base)		 922
gDNA position
(for ins/del: last normal base / first normal base)		 2249
chromosomal position
(for ins/del: last normal base / first normal base)		 17408630
original gDNA sequence snippet ACTCCAAGTTTGGCAACACCGTCAAAGTGCCCACACCACTC
altered gDNA sequence snippet ACTCCAAGTTTGGCAACACCATCAAAGTGCCCACACCACTC
original cDNA sequence snippet ACTCCAAGTTTGGCAACACCGTCAAAGTGCCCACACCACTC
altered cDNA sequence snippet ACTCCAAGTTTGGCAACACCATCAAAGTGCCCACACCACTC
wildtype AA sequence MAWWLIAFAH GDLAPSEGTA EPCVTSIHSF SSAFLFSIEV QVTIGFGGRM VTEECPLAIL
ILIVQNIVGL MINAIMLGCI FMKTAQAHRR AETLIFSKHA VIALRHGRLC FMLRVGDLRK
SMIISATIHM QVVRKTTSPE GEVVPLHQVD IPMENGVGGN SIFLVAPLII YHVIDANSPL
YDLAPSDLHH HQDLEIIVIL EGVVETTGIT TQARTSYLAD EILWGQRFVP IVAEEDGRYS
VDYSKFGNTV KVPTPLCTAR QLDEDHSLLE ALTLASARGP LRKRSVPMAK AKPKFSISPD
SLS*
mutated AA sequence MAWWLIAFAH GDLAPSEGTA EPCVTSIHSF SSAFLFSIEV QVTIGFGGRM VTEECPLAIL
ILIVQNIVGL MINAIMLGCI FMKTAQAHRR AETLIFSKHA VIALRHGRLC FMLRVGDLRK
SMIISATIHM QVVRKTTSPE GEVVPLHQVD IPMENGVGGN SIFLVAPLII YHVIDANSPL
YDLAPSDLHH HQDLEIIVIL EGVVETTGIT TQARTSYLAD EILWGQRFVP IVAEEDGRYS
VDYSKFGNTI KVPTPLCTAR QLDEDHSLLE ALTLASARGP LRKRSVPMAK AKPKFSISPD
SLS*
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