Yum, tasty mutations...

MutationTaster - study a chromosomal position

 MTQE documentation
NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 4 transcript(s)...
Querying Taster for transcript #1: ENST00000403799
Querying Taster for transcript #2: ENST00000395796
Querying Taster for transcript #3: ENST00000345378
Querying Taster for transcript #4: ENST00000437084
MT speed 0 s - this script 4.667435 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
GCKdisease_causing_automatic0.999999999470567simple_aaeaffected0A378Vsingle base exchangers193929374show file
GCKdisease_causing_automatic0.999999999470567simple_aaeaffected0A377Vsingle base exchangers193929374show file
GCKdisease_causing_automatic0.999999999470567simple_aaeaffected0A379Vsingle base exchangers193929374show file
GCKdisease_causing_automatic0.999999999470567simple_aaeaffected0A361Vsingle base exchangers193929374show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999470567 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CD097041)
  • known disease mutation at this position (HGMD CM035618)
  • known disease mutation at this position (HGMD CM096932)
  • known disease mutation at this position (HGMD CM096933)
  • known disease mutation: rs21076 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:44185216G>AN/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.1133C>T
cDNA.1603C>T
g.52554C>T
AA changes A378V Score: 64 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 378
frameshift no
known variant Reference ID: rs193929374
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs21076 (pathogenic for Permanent neonatal diabetes mellitus) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CD097041)

known disease mutation at this position, please check HGMD for details (HGMD ID CD097041)
known disease mutation at this position, please check HGMD for details (HGMD ID CM035618)

known disease mutation at this position, please check HGMD for details (HGMD ID CD097041)
known disease mutation at this position, please check HGMD for details (HGMD ID CM035618)
known disease mutation at this position, please check HGMD for details (HGMD ID CM096932)

known disease mutation at this position, please check HGMD for details (HGMD ID CD097041)
known disease mutation at this position, please check HGMD for details (HGMD ID CM035618)
known disease mutation at this position, please check HGMD for details (HGMD ID CM096932)
known disease mutation at this position, please check HGMD for details (HGMD ID CM096933)

known disease mutation at this position, please check HGMD for details (HGMD ID CD097041)
known disease mutation at this position, please check HGMD for details (HGMD ID CM035618)
known disease mutation at this position, please check HGMD for details (HGMD ID CM096932)
known disease mutation at this position, please check HGMD for details (HGMD ID CM096933)
known disease mutation at this position, please check HGMD for details (HGMD ID CD097041)

known disease mutation at this position, please check HGMD for details (HGMD ID CD097041)
known disease mutation at this position, please check HGMD for details (HGMD ID CM035618)
known disease mutation at this position, please check HGMD for details (HGMD ID CM096932)
known disease mutation at this position, please check HGMD for details (HGMD ID CM096933)
known disease mutation at this position, please check HGMD for details (HGMD ID CD097041)
known disease mutation at this position, please check HGMD for details (HGMD ID CM035618)

known disease mutation at this position, please check HGMD for details (HGMD ID CD097041)
known disease mutation at this position, please check HGMD for details (HGMD ID CM035618)
known disease mutation at this position, please check HGMD for details (HGMD ID CM096932)
known disease mutation at this position, please check HGMD for details (HGMD ID CM096933)
known disease mutation at this position, please check HGMD for details (HGMD ID CD097041)
known disease mutation at this position, please check HGMD for details (HGMD ID CM035618)
known disease mutation at this position, please check HGMD for details (HGMD ID CM096932)

known disease mutation at this position, please check HGMD for details (HGMD ID CD097041)
known disease mutation at this position, please check HGMD for details (HGMD ID CM035618)
known disease mutation at this position, please check HGMD for details (HGMD ID CM096932)
known disease mutation at this position, please check HGMD for details (HGMD ID CM096933)
known disease mutation at this position, please check HGMD for details (HGMD ID CD097041)
known disease mutation at this position, please check HGMD for details (HGMD ID CM035618)
known disease mutation at this position, please check HGMD for details (HGMD ID CM096932)
known disease mutation at this position, please check HGMD for details (HGMD ID CM096933)
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
H2AZ, Histone, Histone 2A variant Z
H3K18ac, Histone, Histone 3 Lysine 18 Acetylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.8590.499
5.8511
(flanking)2.6220.999
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 increased52563wt: 0.5349 / mu: 0.5398 (marginal change - not scored)wt: GTCTACGCGCGCTGCGCACATGTGCTCGGCGGGGCTGGCGG
mu: GTCTACGCGCGTTGCGCACATGTGCTCGGCGGGGCTGGCGG		 acat|GTGC
Acc increased52565wt: 0.62 / mu: 0.71wt: CTACGCGCGCTGCGCACATGTGCTCGGCGGGGCTGGCGGGC
mu: CTACGCGCGTTGCGCACATGTGCTCGGCGGGGCTGGCGGGC		 atgt|GCTC
Donor increased52558wt: 0.80 / mu: 0.88wt: GCTGCGCACATGTGC
mu: GTTGCGCACATGTGC		 TGCG|caca
Donor gained525470.65mu: TGTCTACGCGCGTTG TCTA|cgcg
distance from splice site 114
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      378VRRACESVSTRAAHMCSAGLAGVI
mutated  not conserved    378VRRACESVSTRVAHMCSAGLAGV
Ptroglodytes  all identical  ENSPTRG00000019140  377STRAAHMCSAGLAGV
Mmulatta  all identical  ENSMMUG00000002427  379TRAAHMCSAGLAGV
Fcatus  all identical  ENSFCAG00000014361  363RAAHMCAAGLAGV
Mmusculus  all identical  ENSMUSG00000041798  378VRRACESVSTRAAHMCSAGLAGV
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000068006  389STRAAHLCGAGLAGV
Dmelanogaster  all identical  FBgn0001186  457VRYICECVSKRAAHLVSAGIATL
Celegans  all identical  F14B4.2  407VAYVCSLISTRAAHLTAAGIAML
Xtropicalis  all identical  ENSXETG00000019003  378VRLACESVSTRAAVMCSSGLAAI
protein features
start (aa)end (aa)featuredetails 
361396HELIXlost
400409STRANDmight get lost (downstream of altered splice site)
411415NP_BINDATP (By similarity).might get lost (downstream of altered splice site)
411415HELIXmight get lost (downstream of altered splice site)
414414MUTAGENK->A: Small change in activity.might get lost (downstream of altered splice site)
416418STRANDmight get lost (downstream of altered splice site)
419430HELIXmight get lost (downstream of altered splice site)
434440STRANDmight get lost (downstream of altered splice site)
444456HELIXmight get lost (downstream of altered splice site)
457459TURNmight get lost (downstream of altered splice site)
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 1133
cDNA position
(for ins/del: last normal base / first normal base)		 1603
gDNA position
(for ins/del: last normal base / first normal base)		 52554
chromosomal position
(for ins/del: last normal base / first normal base)		 44185216
original gDNA sequence snippet CGAGAGCGTGTCTACGCGCGCTGCGCACATGTGCTCGGCGG
altered gDNA sequence snippet CGAGAGCGTGTCTACGCGCGTTGCGCACATGTGCTCGGCGG
original cDNA sequence snippet CGAGAGCGTGTCTACGCGCGCTGCGCACATGTGCTCGGCGG
altered cDNA sequence snippet CGAGAGCGTGTCTACGCGCGTTGCGCACATGTGCTCGGCGG
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 SDFLDKHQMK HKKLPLGFTF SFPVRHEDID KGILLNWTKG FKASGAEGNN
VVGLLRDAIK RRGDFEMDVV AMVNDTVATM ISCYYEDHQC EVGMIVGTGC NACYMEEMQN
VELVEGDEGR MCVNTEWGAF GDSGELDEFL LEYDRLVDES SANPGQQLYE KLIGGKYMGE
LVRLVLLRLV DENLLFHGEA SEQLRTRGAF ETRFVSQVES DTGDRKQIYN ILSTLGLRPS
TTDCDIVRRA CESVSTRVAH MCSAGLAGVI NRMRESRSED VMRITVGVDG SVYKLHPSFK
ERFHASVRRL TPSCEITFIE SEEGSGRGAA LVSAVACKKA CMLGQ*
speed 0.81 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
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999470567 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CD097041)
  • known disease mutation at this position (HGMD CM035618)
  • known disease mutation at this position (HGMD CM096932)
  • known disease mutation at this position (HGMD CM096933)
  • known disease mutation: rs21076 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:44185216G>AN/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.1130C>T
cDNA.1415C>T
g.52554C>T
AA changes A377V Score: 64 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 377
frameshift no
known variant Reference ID: rs193929374
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs21076 (pathogenic for Permanent neonatal diabetes mellitus) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CD097041)

known disease mutation at this position, please check HGMD for details (HGMD ID CD097041)
known disease mutation at this position, please check HGMD for details (HGMD ID CM035618)

known disease mutation at this position, please check HGMD for details (HGMD ID CD097041)
known disease mutation at this position, please check HGMD for details (HGMD ID CM035618)
known disease mutation at this position, please check HGMD for details (HGMD ID CM096932)

known disease mutation at this position, please check HGMD for details (HGMD ID CD097041)
known disease mutation at this position, please check HGMD for details (HGMD ID CM035618)
known disease mutation at this position, please check HGMD for details (HGMD ID CM096932)
known disease mutation at this position, please check HGMD for details (HGMD ID CM096933)

known disease mutation at this position, please check HGMD for details (HGMD ID CD097041)
known disease mutation at this position, please check HGMD for details (HGMD ID CM035618)
known disease mutation at this position, please check HGMD for details (HGMD ID CM096932)
known disease mutation at this position, please check HGMD for details (HGMD ID CM096933)
known disease mutation at this position, please check HGMD for details (HGMD ID CD097041)

known disease mutation at this position, please check HGMD for details (HGMD ID CD097041)
known disease mutation at this position, please check HGMD for details (HGMD ID CM035618)
known disease mutation at this position, please check HGMD for details (HGMD ID CM096932)
known disease mutation at this position, please check HGMD for details (HGMD ID CM096933)
known disease mutation at this position, please check HGMD for details (HGMD ID CD097041)
known disease mutation at this position, please check HGMD for details (HGMD ID CM035618)

known disease mutation at this position, please check HGMD for details (HGMD ID CD097041)
known disease mutation at this position, please check HGMD for details (HGMD ID CM035618)
known disease mutation at this position, please check HGMD for details (HGMD ID CM096932)
known disease mutation at this position, please check HGMD for details (HGMD ID CM096933)
known disease mutation at this position, please check HGMD for details (HGMD ID CD097041)
known disease mutation at this position, please check HGMD for details (HGMD ID CM035618)
known disease mutation at this position, please check HGMD for details (HGMD ID CM096932)

known disease mutation at this position, please check HGMD for details (HGMD ID CD097041)
known disease mutation at this position, please check HGMD for details (HGMD ID CM035618)
known disease mutation at this position, please check HGMD for details (HGMD ID CM096932)
known disease mutation at this position, please check HGMD for details (HGMD ID CM096933)
known disease mutation at this position, please check HGMD for details (HGMD ID CD097041)
known disease mutation at this position, please check HGMD for details (HGMD ID CM035618)
known disease mutation at this position, please check HGMD for details (HGMD ID CM096932)
known disease mutation at this position, please check HGMD for details (HGMD ID CM096933)
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
H2AZ, Histone, Histone 2A variant Z
H3K18ac, Histone, Histone 3 Lysine 18 Acetylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.8590.499
5.8511
(flanking)2.6220.999
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 increased52563wt: 0.5349 / mu: 0.5398 (marginal change - not scored)wt: GTCTACGCGCGCTGCGCACATGTGCTCGGCGGGGCTGGCGG
mu: GTCTACGCGCGTTGCGCACATGTGCTCGGCGGGGCTGGCGG		 acat|GTGC
Acc increased52565wt: 0.62 / mu: 0.71wt: CTACGCGCGCTGCGCACATGTGCTCGGCGGGGCTGGCGGGC
mu: CTACGCGCGTTGCGCACATGTGCTCGGCGGGGCTGGCGGGC		 atgt|GCTC
Donor increased52558wt: 0.80 / mu: 0.88wt: GCTGCGCACATGTGC
mu: GTTGCGCACATGTGC		 TGCG|caca
Donor gained525470.65mu: TGTCTACGCGCGTTG TCTA|cgcg
distance from splice site 114
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      377VRRACESVSTRAAHMCSAGLAGVI
mutated  not conserved    377VRRACESVSTRVAHMCSAGLAGV
Ptroglodytes  all identical  ENSPTRG00000019140  377VRRACESVSTRAAHMCSAGLAGV
Mmulatta  all identical  ENSMMUG00000002427  379VRRACESVSTRAAHMCSAGLAGV
Fcatus  all identical  ENSFCAG00000014361  363RAAHMCAAGLAGV
Mmusculus  all identical  ENSMUSG00000041798  378TRAAHMCSAGLAGV
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000068006  389STRAAHLCGAGLAGV
Dmelanogaster  all identical  FBgn0001186  458VRYICECVSKRAAHLVSAGIATL
Celegans  all identical  F14B4.2  407VAYVCSLISTRAAHLTAAGIAML
Xtropicalis  all identical  ENSXETG00000019003  378VSTRAAVMCSSGLAAI
protein features
start (aa)end (aa)featuredetails 
361396HELIXlost
400409STRANDmight get lost (downstream of altered splice site)
411415NP_BINDATP (By similarity).might get lost (downstream of altered splice site)
411415HELIXmight get lost (downstream of altered splice site)
414414MUTAGENK->A: Small change in activity.might get lost (downstream of altered splice site)
416418STRANDmight get lost (downstream of altered splice site)
419430HELIXmight get lost (downstream of altered splice site)
434440STRANDmight get lost (downstream of altered splice site)
444456HELIXmight get lost (downstream of altered splice site)
457459TURNmight get lost (downstream of altered splice site)
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 1130
cDNA position
(for ins/del: last normal base / first normal base)		 1415
gDNA position
(for ins/del: last normal base / first normal base)		 52554
chromosomal position
(for ins/del: last normal base / first normal base)		 44185216
original gDNA sequence snippet CGAGAGCGTGTCTACGCGCGCTGCGCACATGTGCTCGGCGG
altered gDNA sequence snippet CGAGAGCGTGTCTACGCGCGTTGCGCACATGTGCTCGGCGG
original cDNA sequence snippet CGAGAGCGTGTCTACGCGCGCTGCGCACATGTGCTCGGCGG
altered cDNA sequence snippet CGAGAGCGTGTCTACGCGCGTTGCGCACATGTGCTCGGCGG
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
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 ESVSTRVAHM CSAGLAGVIN RMRESRSEDV MRITVGVDGS VYKLHPSFKE
RFHASVRRLT PSCEITFIES EEGSGRGAAL VSAVACKKAC MLGQ*
speed 0.79 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
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999470567 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CD097041)
  • known disease mutation at this position (HGMD CM035618)
  • known disease mutation at this position (HGMD CM096932)
  • known disease mutation at this position (HGMD CM096933)
  • known disease mutation: rs21076 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:44185216G>AN/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.1136C>T
cDNA.1298C>T
g.52554C>T
AA changes A379V Score: 64 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 379
frameshift no
known variant Reference ID: rs193929374
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs21076 (pathogenic for Permanent neonatal diabetes mellitus) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CD097041)

known disease mutation at this position, please check HGMD for details (HGMD ID CD097041)
known disease mutation at this position, please check HGMD for details (HGMD ID CM035618)

known disease mutation at this position, please check HGMD for details (HGMD ID CD097041)
known disease mutation at this position, please check HGMD for details (HGMD ID CM035618)
known disease mutation at this position, please check HGMD for details (HGMD ID CM096932)

known disease mutation at this position, please check HGMD for details (HGMD ID CD097041)
known disease mutation at this position, please check HGMD for details (HGMD ID CM035618)
known disease mutation at this position, please check HGMD for details (HGMD ID CM096932)
known disease mutation at this position, please check HGMD for details (HGMD ID CM096933)

known disease mutation at this position, please check HGMD for details (HGMD ID CD097041)
known disease mutation at this position, please check HGMD for details (HGMD ID CM035618)
known disease mutation at this position, please check HGMD for details (HGMD ID CM096932)
known disease mutation at this position, please check HGMD for details (HGMD ID CM096933)
known disease mutation at this position, please check HGMD for details (HGMD ID CD097041)

known disease mutation at this position, please check HGMD for details (HGMD ID CD097041)
known disease mutation at this position, please check HGMD for details (HGMD ID CM035618)
known disease mutation at this position, please check HGMD for details (HGMD ID CM096932)
known disease mutation at this position, please check HGMD for details (HGMD ID CM096933)
known disease mutation at this position, please check HGMD for details (HGMD ID CD097041)
known disease mutation at this position, please check HGMD for details (HGMD ID CM035618)

known disease mutation at this position, please check HGMD for details (HGMD ID CD097041)
known disease mutation at this position, please check HGMD for details (HGMD ID CM035618)
known disease mutation at this position, please check HGMD for details (HGMD ID CM096932)
known disease mutation at this position, please check HGMD for details (HGMD ID CM096933)
known disease mutation at this position, please check HGMD for details (HGMD ID CD097041)
known disease mutation at this position, please check HGMD for details (HGMD ID CM035618)
known disease mutation at this position, please check HGMD for details (HGMD ID CM096932)

known disease mutation at this position, please check HGMD for details (HGMD ID CD097041)
known disease mutation at this position, please check HGMD for details (HGMD ID CM035618)
known disease mutation at this position, please check HGMD for details (HGMD ID CM096932)
known disease mutation at this position, please check HGMD for details (HGMD ID CM096933)
known disease mutation at this position, please check HGMD for details (HGMD ID CD097041)
known disease mutation at this position, please check HGMD for details (HGMD ID CM035618)
known disease mutation at this position, please check HGMD for details (HGMD ID CM096932)
known disease mutation at this position, please check HGMD for details (HGMD ID CM096933)
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
H2AZ, Histone, Histone 2A variant Z
H3K18ac, Histone, Histone 3 Lysine 18 Acetylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.8590.499
5.8511
(flanking)2.6220.999
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 increased52563wt: 0.5349 / mu: 0.5398 (marginal change - not scored)wt: GTCTACGCGCGCTGCGCACATGTGCTCGGCGGGGCTGGCGG
mu: GTCTACGCGCGTTGCGCACATGTGCTCGGCGGGGCTGGCGG		 acat|GTGC
Acc increased52565wt: 0.62 / mu: 0.71wt: CTACGCGCGCTGCGCACATGTGCTCGGCGGGGCTGGCGGGC
mu: CTACGCGCGTTGCGCACATGTGCTCGGCGGGGCTGGCGGGC		 atgt|GCTC
Donor increased52558wt: 0.80 / mu: 0.88wt: GCTGCGCACATGTGC
mu: GTTGCGCACATGTGC		 TGCG|caca
Donor gained525470.65mu: TGTCTACGCGCGTTG TCTA|cgcg
distance from splice site 114
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      379VRRACESVSTRAAHMCSAGLAGVI
mutated  not conserved    379VRRACESVSTRVAHMCSAGLAGV
Ptroglodytes  all identical  ENSPTRG00000019140  377VRRACESVSTRAAHMCSAGLAGV
Mmulatta  all identical  ENSMMUG00000002427  379VRRACESVSTRAAHMCSAGLAGV
Fcatus  all identical  ENSFCAG00000014361  363RAAHMCAAGLAGV
Mmusculus  all identical  ENSMUSG00000041798  378VRRACESVSTRAAHMCSAGLAGV
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000068006  389ESVSTRAAHLCGAGLAGV
Dmelanogaster  all identical  FBgn0001186  458ICECVSKRAAHLVSAGIATL
Celegans  all identical  F14B4.2  407VAYVCSLISTRAAHLTAAGIAML
Xtropicalis  all identical  ENSXETG00000019003  378TRAAVMCSSGLAAI
protein features
start (aa)end (aa)featuredetails 
361396HELIXlost
400409STRANDmight get lost (downstream of altered splice site)
411415NP_BINDATP (By similarity).might get lost (downstream of altered splice site)
411415HELIXmight get lost (downstream of altered splice site)
414414MUTAGENK->A: Small change in activity.might get lost (downstream of altered splice site)
416418STRANDmight get lost (downstream of altered splice site)
419430HELIXmight get lost (downstream of altered splice site)
434440STRANDmight get lost (downstream of altered splice site)
444456HELIXmight get lost (downstream of altered splice site)
457459TURNmight get lost (downstream of altered splice site)
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 1136
cDNA position
(for ins/del: last normal base / first normal base)		 1298
gDNA position
(for ins/del: last normal base / first normal base)		 52554
chromosomal position
(for ins/del: last normal base / first normal base)		 44185216
original gDNA sequence snippet CGAGAGCGTGTCTACGCGCGCTGCGCACATGTGCTCGGCGG
altered gDNA sequence snippet CGAGAGCGTGTCTACGCGCGTTGCGCACATGTGCTCGGCGG
original cDNA sequence snippet CGAGAGCGTGTCTACGCGCGCTGCGCACATGTGCTCGGCGG
altered cDNA sequence snippet CGAGAGCGTGTCTACGCGCGTTGCGCACATGTGCTCGGCGG
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 VDENLLFHGE ASEQLRTRGA FETRFVSQVE SDTGDRKQIY NILSTLGLRP
STTDCDIVRR ACESVSTRVA HMCSAGLAGV INRMRESRSE DVMRITVGVD GSVYKLHPSF
KERFHASVRR LTPSCEITFI ESEEGSGRGA ALVSAVACKK ACMLGQ*
speed 0.83 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
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Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999470567 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CD097041)
  • known disease mutation at this position (HGMD CM035618)
  • known disease mutation at this position (HGMD CM096932)
  • known disease mutation at this position (HGMD CM096933)
  • known disease mutation: rs21076 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:44185216G>AN/A show variant in all transcripts   IGV
HGNC symbol GCK
Ensembl transcript ID ENST00000437084
Genbank transcript ID N/A
UniProt peptide P35557
alteration type single base exchange
alteration region CDS
DNA changes c.1082C>T
cDNA.1116C>T
g.52554C>T
AA changes A361V Score: 64 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 361
frameshift no
known variant Reference ID: rs193929374
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs21076 (pathogenic for Permanent neonatal diabetes mellitus) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CD097041)

known disease mutation at this position, please check HGMD for details (HGMD ID CD097041)
known disease mutation at this position, please check HGMD for details (HGMD ID CM035618)

known disease mutation at this position, please check HGMD for details (HGMD ID CD097041)
known disease mutation at this position, please check HGMD for details (HGMD ID CM035618)
known disease mutation at this position, please check HGMD for details (HGMD ID CM096932)

known disease mutation at this position, please check HGMD for details (HGMD ID CD097041)
known disease mutation at this position, please check HGMD for details (HGMD ID CM035618)
known disease mutation at this position, please check HGMD for details (HGMD ID CM096932)
known disease mutation at this position, please check HGMD for details (HGMD ID CM096933)

known disease mutation at this position, please check HGMD for details (HGMD ID CD097041)
known disease mutation at this position, please check HGMD for details (HGMD ID CM035618)
known disease mutation at this position, please check HGMD for details (HGMD ID CM096932)
known disease mutation at this position, please check HGMD for details (HGMD ID CM096933)
known disease mutation at this position, please check HGMD for details (HGMD ID CD097041)

known disease mutation at this position, please check HGMD for details (HGMD ID CD097041)
known disease mutation at this position, please check HGMD for details (HGMD ID CM035618)
known disease mutation at this position, please check HGMD for details (HGMD ID CM096932)
known disease mutation at this position, please check HGMD for details (HGMD ID CM096933)
known disease mutation at this position, please check HGMD for details (HGMD ID CD097041)
known disease mutation at this position, please check HGMD for details (HGMD ID CM035618)

known disease mutation at this position, please check HGMD for details (HGMD ID CD097041)
known disease mutation at this position, please check HGMD for details (HGMD ID CM035618)
known disease mutation at this position, please check HGMD for details (HGMD ID CM096932)
known disease mutation at this position, please check HGMD for details (HGMD ID CM096933)
known disease mutation at this position, please check HGMD for details (HGMD ID CD097041)
known disease mutation at this position, please check HGMD for details (HGMD ID CM035618)
known disease mutation at this position, please check HGMD for details (HGMD ID CM096932)

known disease mutation at this position, please check HGMD for details (HGMD ID CD097041)
known disease mutation at this position, please check HGMD for details (HGMD ID CM035618)
known disease mutation at this position, please check HGMD for details (HGMD ID CM096932)
known disease mutation at this position, please check HGMD for details (HGMD ID CM096933)
known disease mutation at this position, please check HGMD for details (HGMD ID CD097041)
known disease mutation at this position, please check HGMD for details (HGMD ID CM035618)
known disease mutation at this position, please check HGMD for details (HGMD ID CM096932)
known disease mutation at this position, please check HGMD for details (HGMD ID CM096933)
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
H2AZ, Histone, Histone 2A variant Z
H3K18ac, Histone, Histone 3 Lysine 18 Acetylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.8590.499
5.8511
(flanking)2.6220.999
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 increased52563wt: 0.5349 / mu: 0.5398 (marginal change - not scored)wt: GTCTACGCGCGCTGCGCACATGTGCTCGGCGGGGCTGGCGG
mu: GTCTACGCGCGTTGCGCACATGTGCTCGGCGGGGCTGGCGG		 acat|GTGC
Acc increased52565wt: 0.62 / mu: 0.71wt: CTACGCGCGCTGCGCACATGTGCTCGGCGGGGCTGGCGGGC
mu: CTACGCGCGTTGCGCACATGTGCTCGGCGGGGCTGGCGGGC		 atgt|GCTC
Donor increased52558wt: 0.80 / mu: 0.88wt: GCTGCGCACATGTGC
mu: GTTGCGCACATGTGC		 TGCG|caca
Donor gained525470.65mu: TGTCTACGCGCGTTG TCTA|cgcg
distance from splice site 114
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      361VRRACESVSTRAAHMCSAGLAGVI
mutated  not conserved    361VAHMCSAGLAGV
Ptroglodytes  all identical  ENSPTRG00000019140  377STRAAHMCSAGLAGV
Mmulatta  all identical  ENSMMUG00000002427  379TRAAHMCSAGLAGV
Fcatus  all identical  ENSFCAG00000014361  363VRRACESVSTRAAHMCAAGLAGV
Mmusculus  all identical  ENSMUSG00000041798  378VRRACESVSTRAAHMCSAGLAGV
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000068006  389STRAAHLCGAGLAGV
Dmelanogaster  all identical  FBgn0001186  457VRYICECVSKRAAHLVSAGIATL
Celegans  all identical  F14B4.2  407VAYVCSLISTRAAHLTAAGIAML
Xtropicalis  all identical  ENSXETG00000019003  378VRLACESVSTRAAVMCSSGLAAI
protein features
start (aa)end (aa)featuredetails 
361396HELIXlost
400409STRANDmight get lost (downstream of altered splice site)
411415NP_BINDATP (By similarity).might get lost (downstream of altered splice site)
411415HELIXmight get lost (downstream of altered splice site)
414414MUTAGENK->A: Small change in activity.might get lost (downstream of altered splice site)
416418STRANDmight get lost (downstream of altered splice site)
419430HELIXmight get lost (downstream of altered splice site)
434440STRANDmight get lost (downstream of altered splice site)
444456HELIXmight get lost (downstream of altered splice site)
457459TURNmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1347 / 1347
position (AA) of stopcodon in wt / mu AA sequence 449 / 449
position of stopcodon in wt / mu cDNA 1381 / 1381
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 35 / 35
chromosome 7
strand -1
last intron/exon boundary 1237
theoretical NMD boundary in CDS 1152
length of CDS 1347
coding sequence (CDS) position 1082
cDNA position
(for ins/del: last normal base / first normal base)		 1116
gDNA position
(for ins/del: last normal base / first normal base)		 52554
chromosomal position
(for ins/del: last normal base / first normal base)		 44185216
original gDNA sequence snippet CGAGAGCGTGTCTACGCGCGCTGCGCACATGTGCTCGGCGG
altered gDNA sequence snippet CGAGAGCGTGTCTACGCGCGTTGCGCACATGTGCTCGGCGG
original cDNA sequence snippet CGAGAGCGTGTCTACGCGCGCTGCGCACATGTGCTCGGCGG
altered cDNA sequence snippet CGAGAGCGTGTCTACGCGCGTTGCGCACATGTGCTCGGCGG
wildtype AA sequence MLDDRARMEA AKKEKVEQIL AEFQLQEEDL KKVMRRMQKE MDRGLRLETH EEASVKMLPT
YVRSTPEGSE VGDFLSLDLG GTNFRVMLVK VGEGEEGQWS VKTKHQMYSI PEDAMTGTAE
MMKHKKLPLG FTFSFPVRHE DIDKGILLNW TKGFKASGAE GNNVVGLLRD AIKRRGDFEM
DVVAMVNDTV ATMISCYYED HQCEVGMIVG TGCNACYMEE MQNVELVEGD EGRMCVNTEW
GAFGDSGELD EFLLEYDRLV DESSANPGQQ LYEKLIGGKY MGELVRLVLL RLVDENLLFH
GEASEQLRTR GAFETRFVSQ VESDTGDRKQ IYNILSTLGL RPSTTDCDIV RRACESVSTR
AAHMCSAGLA GVINRMRESR SEDVMRITVG VDGSVYKLHP SFKERFHASV RRLTPSCEIT
FIESEEGSGR GAALVSAVAC KKACMLGQ*
mutated AA sequence MLDDRARMEA AKKEKVEQIL AEFQLQEEDL KKVMRRMQKE MDRGLRLETH EEASVKMLPT
YVRSTPEGSE VGDFLSLDLG GTNFRVMLVK VGEGEEGQWS VKTKHQMYSI PEDAMTGTAE
MMKHKKLPLG FTFSFPVRHE DIDKGILLNW TKGFKASGAE GNNVVGLLRD AIKRRGDFEM
DVVAMVNDTV ATMISCYYED HQCEVGMIVG TGCNACYMEE MQNVELVEGD EGRMCVNTEW
GAFGDSGELD EFLLEYDRLV DESSANPGQQ LYEKLIGGKY MGELVRLVLL RLVDENLLFH
GEASEQLRTR GAFETRFVSQ VESDTGDRKQ IYNILSTLGL RPSTTDCDIV RRACESVSTR
VAHMCSAGLA GVINRMRESR SEDVMRITVG VDGSVYKLHP SFKERFHASV RRLTPSCEIT
FIESEEGSGR GAALVSAVAC KKACMLGQ*
speed 0.84 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
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Problems