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 ENST00000395796
Genbank transcript ID NM_033508
UniProt peptide P35557
alteration type single base exchange
alteration region CDS
DNA changes c.388T>C
cDNA.673T>C
g.47123T>C
AA changes S130P Score: 74 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 130
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      130EMLFDYISECISDFLDKHQMKHKK
mutated  not conserved    130LFDYISECIPDFLDKHQMKHK
Ptroglodytes  all identical  ENSPTRG00000019140  130LFDYISECISDFLDKHQMKHK
Mmulatta  all identical  ENSMMUG00000002427  132LFDYISECISDFLDKHQMKHK
Fcatus  not conserved  ENSFCAG00000014361  116XXXXXXXXXXXXXFLDK
Mmusculus  all identical  ENSMUSG00000041798  131EMLFDYISECISDFLD
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000068006  141EMLFDYIAGCISDFLD
Dmelanogaster  all identical  FBgn0001186  206SNFMAEHNVYKE
Celegans  all conserved  F14B4.2  148HIAGCMAKFMGENDLKDAQ
Xtropicalis  all identical  ENSXETG00000019003  131EMLFDYIAECISDY
protein features
start (aa)end (aa)featuredetails 
119136HELIXlost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1395 / 1395
position (AA) of stopcodon in wt / mu AA sequence 465 / 465
position of stopcodon in wt / mu cDNA 1680 / 1680
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 286 / 286
chromosome 7
strand -1
last intron/exon boundary 1536
theoretical NMD boundary in CDS 1200
length of CDS 1395
coding sequence (CDS) position 388
cDNA position
(for ins/del: last normal base / first normal base)		 673
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 MPRPRSQLPQ PNSQVEQILA EFQLQEEDLK KVMRRMQKEM DRGLRLETHE EASVKMLPTY
VRSTPEGSEV GDFLSLDLGG TNFRVMLVKV GEGEEGQWSV KTKHQMYSIP EDAMTGTAEM
LFDYISECIS DFLDKHQMKH KKLPLGFTFS FPVRHEDIDK GILLNWTKGF KASGAEGNNV
VGLLRDAIKR RGDFEMDVVA MVNDTVATMI SCYYEDHQCE VGMIVGTGCN ACYMEEMQNV
ELVEGDEGRM CVNTEWGAFG DSGELDEFLL EYDRLVDESS ANPGQQLYEK LIGGKYMGEL
VRLVLLRLVD ENLLFHGEAS EQLRTRGAFE TRFVSQVESD TGDRKQIYNI LSTLGLRPST
TDCDIVRRAC ESVSTRAAHM CSAGLAGVIN RMRESRSEDV MRITVGVDGS VYKLHPSFKE
RFHASVRRLT PSCEITFIES EEGSGRGAAL VSAVACKKAC MLGQ*
mutated AA sequence MPRPRSQLPQ PNSQVEQILA EFQLQEEDLK KVMRRMQKEM DRGLRLETHE EASVKMLPTY
VRSTPEGSEV GDFLSLDLGG TNFRVMLVKV GEGEEGQWSV KTKHQMYSIP EDAMTGTAEM
LFDYISECIP DFLDKHQMKH KKLPLGFTFS FPVRHEDIDK GILLNWTKGF KASGAEGNNV
VGLLRDAIKR RGDFEMDVVA MVNDTVATMI SCYYEDHQCE VGMIVGTGCN ACYMEEMQNV
ELVEGDEGRM CVNTEWGAFG DSGELDEFLL EYDRLVDESS ANPGQQLYEK LIGGKYMGEL
VRLVLLRLVD ENLLFHGEAS EQLRTRGAFE TRFVSQVESD TGDRKQIYNI LSTLGLRPST
TDCDIVRRAC ESVSTRAAHM CSAGLAGVIN RMRESRSEDV MRITVGVDGS VYKLHPSFKE
RFHASVRRLT PSCEITFIES EEGSGRGAAL VSAVACKKAC MLGQ*
speed 1.30 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