Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999979727835 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM930296)
  • known disease mutation: rs16138 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:44190647A>GN/A show variant in all transcripts   IGV
HGNC symbol GCK
Ensembl transcript ID ENST00000403799
Genbank transcript ID NM_000162
UniProt peptide P35557
alteration type single base exchange
alteration region CDS
DNA changes c.391T>C
cDNA.861T>C
g.47123T>C
AA changes S131P Score: 74 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 131
frameshift no
known variant Reference ID: rs104894010
Allele 'G' was neither found in ExAC nor 1000G.
known disease mutation: rs16138 (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 CM930296)

known disease mutation at this position, please check HGMD for details (HGMD ID CM930296)
known disease mutation at this position, please check HGMD for details (HGMD ID CM930296)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)5.8141
4.81
(flanking)0.9251
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 increased47115wt: 0.6246 / mu: 0.6449 (marginal change - not scored)wt: GCTCTTCGACTACATCTCTGAGTGCATCTCCGACTTCCTGG
mu: GCTCTTCGACTACATCTCTGAGTGCATCCCCGACTTCCTGG		 ctga|GTGC
distance from splice site 28
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      131EMLFDYISECISDFLDKHQMKHKK
mutated  not conserved    131MLFDYISECIPDFLDKHQMKHK
Ptroglodytes  all identical  ENSPTRG00000019140  130EMLFDYISECISDFL
Mmulatta  all identical  ENSMMUG00000002427  132EMLFDYISECISDFLD
Fcatus  not conserved  ENSFCAG00000014361  116XXXXXXXXXXXXXFLDK
Mmusculus  all identical  ENSMUSG00000041798  131MLFDYISECISDFLDKHQMKHK
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000068006  141EMLFDYIAGCISDFLD
Dmelanogaster  all identical  FBgn0001186  206HIAECLSNFMAEHNVYKE
Celegans  all conserved  F14B4.2  153EALFDHIAGCMAKFMGENDLKDA
Xtropicalis  all identical  ENSXETG00000019003  131YIAECISDYLDQQNMKHK
protein features
start (aa)end (aa)featuredetails 
119136HELIXlost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1398 / 1398
position (AA) of stopcodon in wt / mu AA sequence 466 / 466
position of stopcodon in wt / mu cDNA 1868 / 1868
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 471 / 471
chromosome 7
strand -1
last intron/exon boundary 1724
theoretical NMD boundary in CDS 1203
length of CDS 1398
coding sequence (CDS) position 391
cDNA position
(for ins/del: last normal base / first normal base)		 861
gDNA position
(for ins/del: last normal base / first normal base)		 47123
chromosomal position
(for ins/del: last normal base / first normal base)		 44190647
original gDNA sequence snippet ACTACATCTCTGAGTGCATCTCCGACTTCCTGGACAAGCAT
altered gDNA sequence snippet ACTACATCTCTGAGTGCATCCCCGACTTCCTGGACAAGCAT
original cDNA sequence snippet ACTACATCTCTGAGTGCATCTCCGACTTCCTGGACAAGCAT
altered cDNA sequence snippet ACTACATCTCTGAGTGCATCCCCGACTTCCTGGACAAGCAT
wildtype AA sequence MLDDRARMEA AKKEKVEQIL AEFQLQEEDL KKVMRRMQKE MDRGLRLETH EEASVKMLPT
YVRSTPEGSE VGDFLSLDLG GTNFRVMLVK VGEGEEGQWS VKTKHQMYSI PEDAMTGTAE
MLFDYISECI SDFLDKHQMK HKKLPLGFTF SFPVRHEDID KGILLNWTKG FKASGAEGNN
VVGLLRDAIK RRGDFEMDVV AMVNDTVATM ISCYYEDHQC EVGMIVGTGC NACYMEEMQN
VELVEGDEGR MCVNTEWGAF GDSGELDEFL LEYDRLVDES SANPGQQLYE KLIGGKYMGE
LVRLVLLRLV DENLLFHGEA SEQLRTRGAF ETRFVSQVES DTGDRKQIYN ILSTLGLRPS
TTDCDIVRRA CESVSTRAAH MCSAGLAGVI NRMRESRSED VMRITVGVDG SVYKLHPSFK
ERFHASVRRL TPSCEITFIE SEEGSGRGAA LVSAVACKKA CMLGQ*
mutated AA sequence MLDDRARMEA AKKEKVEQIL AEFQLQEEDL KKVMRRMQKE MDRGLRLETH EEASVKMLPT
YVRSTPEGSE VGDFLSLDLG GTNFRVMLVK VGEGEEGQWS VKTKHQMYSI PEDAMTGTAE
MLFDYISECI PDFLDKHQMK HKKLPLGFTF SFPVRHEDID KGILLNWTKG FKASGAEGNN
VVGLLRDAIK RRGDFEMDVV AMVNDTVATM ISCYYEDHQC EVGMIVGTGC NACYMEEMQN
VELVEGDEGR MCVNTEWGAF GDSGELDEFL LEYDRLVDES SANPGQQLYE KLIGGKYMGE
LVRLVLLRLV DENLLFHGEA SEQLRTRGAF ETRFVSQVES DTGDRKQIYN ILSTLGLRPS
TTDCDIVRRA CESVSTRAAH MCSAGLAGVI NRMRESRSED VMRITVGVDG SVYKLHPSFK
ERFHASVRRL TPSCEITFIE SEEGSGRGAA LVSAVACKKA CMLGQ*
speed 1.29 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