Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999994536058 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM950547)
  • known disease mutation: rs25174 (pathogenic)
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr9:34647864C>TN/A show variant in all transcripts   IGV
HGNC symbol GALT
Ensembl transcript ID ENST00000378842
Genbank transcript ID NM_000155
UniProt peptide P07902
alteration type single base exchange
alteration region CDS
DNA changes c.413C>T
cDNA.455C>T
g.9735C>T
AA changes T138M Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 138
frameshift no
known variant Reference ID: rs111033686
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs25174 (pathogenic for Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM950547)

known disease mutation at this position, please check HGMD for details (HGMD ID CM950547)
known disease mutation at this position, please check HGMD for details (HGMD ID CM950547)
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H2BK5me1, Histone, Histone 2B Lysine 5 mono-methylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
H3K79me2, Histone, Histone 3 Lysine 79 di-methylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
USF1, Transcription Factor, USF1 Transcription Factor Binding
phyloP / phastCons
PhyloPPhastCons
(flanking)4.1961
5.0611
(flanking)-1.3230.28
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased9738wt: 0.5058 / mu: 0.5538 (marginal change - not scored)wt: AACGCTGCCACTCAT
mu: AATGCTGCCACTCAT		 CGCT|gcca
distance from splice site 36
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      138KVMCFHPWSDVTLPLMSVPEIRAV
mutated  not conserved    138KVMCFHPWSDVMLPLMSVPEIRA
Ptroglodytes  all identical  ENSPTRG00000020886  138KVMCFHPWSDVTLPLMSVPEIRA
Mmulatta  all identical  ENSMMUG00000020789  138KVMCFHPWSDVTLPLMSVPEIRA
Fcatus  all identical  ENSFCAG00000016304  138KVMCFHPWSDVTLPLMSVPEIRT
Mmusculus  all identical  ENSMUSG00000036073  119KVMCFHPWSDVTLP
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000016445  123KVMCFHPWSDVTLPLM
Drerio  all identical  ENSDARG00000069543  123KVMCFHPWSDITLPLM
Dmelanogaster  all identical  FBgn0263200  117RVMCFHPKSNLTLPTMS
Celegans  all identical  ZK1058.3  118KVICYHPNSQLTLATMDVKE
Xtropicalis  not conserved  ENSXETG00000013206  113---CLYPWDGIKANAPVFA-
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1140 / 1140
position (AA) of stopcodon in wt / mu AA sequence 380 / 380
position of stopcodon in wt / mu cDNA 1182 / 1182
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 43 / 43
chromosome 9
strand 1
last intron/exon boundary 1102
theoretical NMD boundary in CDS 1009
length of CDS 1140
coding sequence (CDS) position 413
cDNA position
(for ins/del: last normal base / first normal base)		 455
gDNA position
(for ins/del: last normal base / first normal base)		 9735
chromosomal position
(for ins/del: last normal base / first normal base)		 34647864
original gDNA sequence snippet CCACCCCTGGTCGGATGTAACGCTGCCACTCATGTCGGTCC
altered gDNA sequence snippet CCACCCCTGGTCGGATGTAATGCTGCCACTCATGTCGGTCC
original cDNA sequence snippet CCACCCCTGGTCGGATGTAACGCTGCCACTCATGTCGGTCC
altered cDNA sequence snippet CCACCCCTGGTCGGATGTAATGCTGCCACTCATGTCGGTCC
wildtype AA sequence MSRSGTDPQQ RQQASEADAA AATFRANDHQ HIRYNPLQDE WVLVSAHRMK RPWQGQVEPQ
LLKTVPRHDP LNPLCPGAIR ANGEVNPQYD STFLFDNDFP ALQPDAPSPG PSDHPLFQAK
SARGVCKVMC FHPWSDVTLP LMSVPEIRAV VDAWASVTEE LGAQYPWVQI FENKGAMMGC
SNPHPHCQVW ASSFLPDIAQ REERSQQAYK SQHGEPLLME YSRQELLRKE RLVLTSEHWL
VLVPFWATWP YQTLLLPRRH VRRLPELTPA ERDDLASIMK KLLTKYDNLF ETSFPYSMGW
HGAPTGSEAG ANWNHWQLHA HYYPPLLRSA TVRKFMVGYE MLAQAQRDLT PEQAAERLRA
LPEVHYHLGQ KDRETATIA*
mutated AA sequence MSRSGTDPQQ RQQASEADAA AATFRANDHQ HIRYNPLQDE WVLVSAHRMK RPWQGQVEPQ
LLKTVPRHDP LNPLCPGAIR ANGEVNPQYD STFLFDNDFP ALQPDAPSPG PSDHPLFQAK
SARGVCKVMC FHPWSDVMLP LMSVPEIRAV VDAWASVTEE LGAQYPWVQI FENKGAMMGC
SNPHPHCQVW ASSFLPDIAQ REERSQQAYK SQHGEPLLME YSRQELLRKE RLVLTSEHWL
VLVPFWATWP YQTLLLPRRH VRRLPELTPA ERDDLASIMK KLLTKYDNLF ETSFPYSMGW
HGAPTGSEAG ANWNHWQLHA HYYPPLLRSA TVRKFMVGYE MLAQAQRDLT PEQAAERLRA
LPEVHYHLGQ KDRETATIA*
speed 0.50 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