Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999998982 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM994057)
  • known disease mutation: rs25246 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr9:34648762C>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.691C>T
cDNA.733C>T
g.10633C>T
AA changes R231C Score: 180 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 231
frameshift no
known variant Reference ID: rs111033749
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs25246 (pathogenic for Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM994057)

known disease mutation at this position, please check HGMD for details (HGMD ID CM994057)
known disease mutation at this position, please check HGMD for details (HGMD ID CM994057)
regulatory features H2BK5me1, Histone, Histone 2B Lysine 5 mono-methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.010.904
5.5481
(flanking)5.5481
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 increased10623wt: 0.4763 / mu: 0.5393 (marginal change - not scored)wt: GACTTCCTATCCATTCTGTCTTCCTAGGAACGTCTGGTCCT
mu: GACTTCCTATCCATTCTGTCTTCCTAGGAATGTCTGGTCCT		 gtct|TCCT
Acc increased10631wt: 0.20 / mu: 0.43wt: ATCCATTCTGTCTTCCTAGGAACGTCTGGTCCTAACCAGTG
mu: ATCCATTCTGTCTTCCTAGGAATGTCTGGTCCTAACCAGTG		 agga|ACGT
Acc marginally increased10633wt: 0.4963 / mu: 0.4980 (marginal change - not scored)wt: CCATTCTGTCTTCCTAGGAACGTCTGGTCCTAACCAGTGAG
mu: CCATTCTGTCTTCCTAGGAATGTCTGGTCCTAACCAGTGAG		 gaac|GTCT
distance from splice site 4
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      231EYSRQELLRKERLVLTSEHWLVLV
mutated  not conserved    231EYSRQELLRKECLVLTSEHWL
Ptroglodytes  all identical  ENSPTRG00000020886  231EYSRQELLRKERLVLTSEHWL
Mmulatta  all identical  ENSMMUG00000020789  231EYSRQELLRKERLVLTSEHWL
Fcatus  all identical  ENSFCAG00000016304  231EYGHQELLRRERLVLTSEHWL
Mmusculus  all identical  ENSMUSG00000036073  212EYGHQELLRKERLVLTSEHWIVL
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000016445  216QYAREEAAKEERLVLQSSDWLVL
Drerio  all identical  ENSDARG00000069543  216QYARMEAQAQERVVVENEHWLVV
Dmelanogaster  all identical  FBgn0263200  210DYVERELQRQERIVIENRDWLVV
Celegans  all identical  ZK1058.3  212DYLEQETLKKERIIMRNEHWTWL
Xtropicalis  not conserved  ENSXETG00000013206  194PLANAPVFTPX---VANEHWLVV
protein features
start (aa)end (aa)featuredetails 
258259CONFLICTRR -> VG (in Ref. 1; AAC83409).might get lost (downstream of altered splice site)
301301METALIron (Potential).might get lost (downstream of altered splice site)
319319METALIron (Potential).might get lost (downstream of altered splice site)
321321METALIron (Potential).might get lost (downstream of altered splice site)
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 691
cDNA position
(for ins/del: last normal base / first normal base)		 733
gDNA position
(for ins/del: last normal base / first normal base)		 10633
chromosomal position
(for ins/del: last normal base / first normal base)		 34648762
original gDNA sequence snippet CCATTCTGTCTTCCTAGGAACGTCTGGTCCTAACCAGTGAG
altered gDNA sequence snippet CCATTCTGTCTTCCTAGGAATGTCTGGTCCTAACCAGTGAG
original cDNA sequence snippet AGGAGCTACTCAGGAAGGAACGTCTGGTCCTAACCAGTGAG
altered cDNA sequence snippet AGGAGCTACTCAGGAAGGAATGTCTGGTCCTAACCAGTGAG
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 FHPWSDVTLP LMSVPEIRAV VDAWASVTEE LGAQYPWVQI FENKGAMMGC
SNPHPHCQVW ASSFLPDIAQ REERSQQAYK SQHGEPLLME YSRQELLRKE CLVLTSEHWL
VLVPFWATWP YQTLLLPRRH VRRLPELTPA ERDDLASIMK KLLTKYDNLF ETSFPYSMGW
HGAPTGSEAG ANWNHWQLHA HYYPPLLRSA TVRKFMVGYE MLAQAQRDLT PEQAAERLRA
LPEVHYHLGQ KDRETATIA*
speed 0.96 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