Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.00362658861886199 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:178968634C>TN/A show variant in all transcripts   IGV
HGNC symbol KCNMB3
Ensembl transcript ID ENST00000314235
Genbank transcript ID NM_014407
UniProt peptide Q9NPA1
alteration type single base exchange
alteration region CDS
DNA changes c.157G>A
cDNA.669G>A
g.16157G>A
AA changes A53T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 53
frameshift no
known variant Reference ID: rs7645550
databasehomozygous (T/T)heterozygousallele carriers
1000G26910411310
ExAC77371729325030
regulatory features H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.9481
3.2751
(flanking)0.1460.997
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased16160wt: 0.76 / mu: 0.92wt: GTGCTGGAGAGGACC
mu: GTACTGGAGAGGACC		 GCTG|gaga
Donor marginally increased16154wt: 0.5077 / mu: 0.5391 (marginal change - not scored)wt: CATCCAGTGCTGGAG
mu: CATCCAGTACTGGAG		 TCCA|gtgc
Donor marginally increased16159wt: 0.9733 / mu: 0.9922 (marginal change - not scored)wt: AGTGCTGGAGAGGAC
mu: AGTACTGGAGAGGAC		 TGCT|ggag
Donor increased16157wt: 0.23 / mu: 0.84wt: CCAGTGCTGGAGAGG
mu: CCAGTACTGGAGAGG		 AGTG|ctgg
Donor gained161620.36mu: ACTGGAGAGGACCGA TGGA|gagg
distance from splice site 89
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      53PLDVHKRLPSSAGEDRAVMLGFAM
mutated  not conserved    53PLDVHKRLPSSTGEDRAVM
Ptroglodytes  all identical  ENSPTRG00000015643  51PLDVHKRLPSSAGEDRAVMLGFA
Mmulatta  all identical  ENSMMUG00000005187  53PLDVHKRLSSSAGEDRAVL
Fcatus  all identical  ENSFCAG00000011267  53LPDVHKKLPSSAGEDRALL
Mmusculus  all identical  ENSMUSG00000091091  51PLKVHPKLPSSAGEDRAMLLGVA
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000063129  46SSVGEDRAVLLGFL
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
160TOPO_DOMCytoplasmic (Potential).lost
6181TRANSMEMHelical; Name=1; (Potential).might get lost (downstream of altered splice site)
82207TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
131131CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
208228TRANSMEMHelical; Name=2; (Potential).might get lost (downstream of altered splice site)
229279TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 840 / 840
position (AA) of stopcodon in wt / mu AA sequence 280 / 280
position of stopcodon in wt / mu cDNA 1352 / 1352
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 513 / 513
chromosome 3
strand -1
last intron/exon boundary 972
theoretical NMD boundary in CDS 409
length of CDS 840
coding sequence (CDS) position 157
cDNA position
(for ins/del: last normal base / first normal base)		 669
gDNA position
(for ins/del: last normal base / first normal base)		 16157
chromosomal position
(for ins/del: last normal base / first normal base)		 178968634
original gDNA sequence snippet ACAAGAGGCTGCCATCCAGTGCTGGAGAGGACCGAGCCGTG
altered gDNA sequence snippet ACAAGAGGCTGCCATCCAGTACTGGAGAGGACCGAGCCGTG
original cDNA sequence snippet ACAAGAGGCTGCCATCCAGTGCTGGAGAGGACCGAGCCGTG
altered cDNA sequence snippet ACAAGAGGCTGCCATCCAGTACTGGAGAGGACCGAGCCGTG
wildtype AA sequence MDFSPSSELG FHFVAFILLT RHRTAFPASG KKRETDYSDG DPLDVHKRLP SSAGEDRAVM
LGFAMMGFSV LMFFLLGTTI LKPFMLSIQR EESTCTAIHT DIMDDWLDCA FTCGVHCHGQ
GKYPCLQVFV NLSHPGQKAL LHYNEEAVQI NPKCFYTPKC HQDRNDLLNS ALDIKEFFDH
KNGTPFSCFY SPASQSEDVI LIKKYDQMAI FHCLFWPSLT LLGGALIVGM VRLTQHLSLL
CEKYSTVVRD EVGGKVPYIE QHQFKLCIMR RSKGRAEKS*
mutated AA sequence MDFSPSSELG FHFVAFILLT RHRTAFPASG KKRETDYSDG DPLDVHKRLP SSTGEDRAVM
LGFAMMGFSV LMFFLLGTTI LKPFMLSIQR EESTCTAIHT DIMDDWLDCA FTCGVHCHGQ
GKYPCLQVFV NLSHPGQKAL LHYNEEAVQI NPKCFYTPKC HQDRNDLLNS ALDIKEFFDH
KNGTPFSCFY SPASQSEDVI LIKKYDQMAI FHCLFWPSLT LLGGALIVGM VRLTQHLSLL
CEKYSTVVRD EVGGKVPYIE QHQFKLCIMR RSKGRAEKS*
speed 1.24 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