Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999384172252 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM070149)
  • known disease mutation: rs36266 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:44186137A>TN/A show variant in all transcripts   IGV
HGNC symbol GCK
Ensembl transcript ID ENST00000345378
Genbank transcript ID NM_033507
UniProt peptide P35557
alteration type single base exchange
alteration region CDS
DNA changes c.947T>A
cDNA.1109T>A
g.51633T>A
AA changes L316H Score: 99 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 316
frameshift no
known variant Reference ID: rs193922338
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs36266 (pathogenic for Maturity-onset diabetes of the young, type 2) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM070149)

known disease mutation at this position, please check HGMD for details (HGMD ID CM070149)
known disease mutation at this position, please check HGMD for details (HGMD ID CM070149)
regulatory features Cmyc, Transcription Factor, Cmyc TF binding
DNase1, Open Chromatin, DNase1 Hypersensitive Site
E2F6, Transcription Factor, E2F6 Transcription Factor Binding
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
Max, Transcription Factor, Max TF binding
PolII, Polymerase, RNA Polymerase II
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2990.999
4.6551
(flanking)2.7731
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 76
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      316LVLLRLVDENLLFHGEASEQLRTR
mutated  not conserved    316LVLLRLVDENLHFHGEASEQLRT
Ptroglodytes  all identical  ENSPTRG00000019140  314LLRLVDENLLFHGKASEQLRT
Mmulatta  all identical  ENSMMUG00000002427  316LVLLRLVDENLLFHGEASEQLRT
Fcatus  all identical  ENSFCAG00000014361  300LVLLKLVDENLLFRGEASEQLRT
Mmusculus  all identical  ENSMUSG00000041798  315LVLLKLVEENLLFHGEASEQLRT
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000068006  325DYNFTVFIIIILKL
Dmelanogaster  all identical  FBgn0001186  393AGILFNGQDSEVLNT
Celegans  all identical  F14B4.2  340EDLAKQGLLFGGN-SDAISV
Xtropicalis  all conserved  ENSXETG00000019003  315LVLIKMVNENLIFGGESSEKLKT
protein features
start (aa)end (aa)featuredetails 
316318HELIXlost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1401 / 1401
position (AA) of stopcodon in wt / mu AA sequence 467 / 467
position of stopcodon in wt / mu cDNA 1563 / 1563
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 163 / 163
chromosome 7
strand -1
last intron/exon boundary 1419
theoretical NMD boundary in CDS 1206
length of CDS 1401
coding sequence (CDS) position 947
cDNA position
(for ins/del: last normal base / first normal base)		 1109
gDNA position
(for ins/del: last normal base / first normal base)		 51633
chromosomal position
(for ins/del: last normal base / first normal base)		 44186137
original gDNA sequence snippet GCTCGTGGACGAAAACCTGCTCTTCCACGGGGAGGCCTCCG
altered gDNA sequence snippet GCTCGTGGACGAAAACCTGCACTTCCACGGGGAGGCCTCCG
original cDNA sequence snippet GCTCGTGGACGAAAACCTGCTCTTCCACGGGGAGGCCTCCG
altered cDNA sequence snippet GCTCGTGGACGAAAACCTGCACTTCCACGGGGAGGCCTCCG
wildtype AA sequence MAMDVTRSQA QTALTLVEQI LAEFQLQEED LKKVMRRMQK EMDRGLRLET HEEASVKMLP
TYVRSTPEGS EVGDFLSLDL GGTNFRVMLV KVGEGEEGQW SVKTKHQMYS IPEDAMTGTA
EMLFDYISEC ISDFLDKHQM KHKKLPLGFT FSFPVRHEDI DKGILLNWTK GFKASGAEGN
NVVGLLRDAI KRRGDFEMDV VAMVNDTVAT MISCYYEDHQ CEVGMIVGTG CNACYMEEMQ
NVELVEGDEG RMCVNTEWGA FGDSGELDEF LLEYDRLVDE SSANPGQQLY EKLIGGKYMG
ELVRLVLLRL VDENLLFHGE ASEQLRTRGA FETRFVSQVE SDTGDRKQIY NILSTLGLRP
STTDCDIVRR ACESVSTRAA HMCSAGLAGV INRMRESRSE DVMRITVGVD GSVYKLHPSF
KERFHASVRR LTPSCEITFI ESEEGSGRGA ALVSAVACKK ACMLGQ*
mutated AA sequence MAMDVTRSQA QTALTLVEQI LAEFQLQEED LKKVMRRMQK EMDRGLRLET HEEASVKMLP
TYVRSTPEGS EVGDFLSLDL GGTNFRVMLV KVGEGEEGQW SVKTKHQMYS IPEDAMTGTA
EMLFDYISEC ISDFLDKHQM KHKKLPLGFT FSFPVRHEDI DKGILLNWTK GFKASGAEGN
NVVGLLRDAI KRRGDFEMDV VAMVNDTVAT MISCYYEDHQ CEVGMIVGTG CNACYMEEMQ
NVELVEGDEG RMCVNTEWGA FGDSGELDEF LLEYDRLVDE SSANPGQQLY EKLIGGKYMG
ELVRLVLLRL VDENLHFHGE ASEQLRTRGA FETRFVSQVE SDTGDRKQIY NILSTLGLRP
STTDCDIVRR ACESVSTRAA HMCSAGLAGV INRMRESRSE DVMRITVGVD GSVYKLHPSF
KERFHASVRR LTPSCEITFI ESEEGSGRGA ALVSAVACKK ACMLGQ*
speed 0.72 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