Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999959695737634 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM012767)
  • known disease mutation: rs25321 (pathogenic)
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr9:34649536C>AN/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.1034C>A
cDNA.1076C>A
g.11407C>A
AA changes A345D Score: 126 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 345
frameshift no
known variant Reference ID: rs111033815
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs25321 (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 CM012767)

known disease mutation at this position, please check HGMD for details (HGMD ID CM012767)
known disease mutation at this position, please check HGMD for details (HGMD ID CM012767)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.9921
3.3271
(flanking)-0.0440.991
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased11407wt: 0.20 / mu: 0.42wt: TCAGGCTCAGAGGGA
mu: TCAGGATCAGAGGGA		 AGGC|tcag
Donor marginally increased11412wt: 0.9261 / mu: 0.9322 (marginal change - not scored)wt: CTCAGAGGGACCTCA
mu: ATCAGAGGGACCTCA		 CAGA|ggga
distance from splice site 26
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      345KFMVGYEMLAQAQRDLTPEQAAER
mutated  not conserved    345KFMVGYEMLAQDQRDLTPEQAAE
Ptroglodytes  all identical  ENSPTRG00000020886  345KFMVGYEMLAQAQRDLTPEQAAE
Mmulatta  all identical  ENSMMUG00000020789  345KFMVGYEMLAQAQRDLTPEQAAE
Fcatus  all identical  ENSFCAG00000016304  345KFMVGYEMLAQAQRDLTPEQ---
Mmusculus  all identical  ENSMUSG00000036073  326KFMVGYEMLAQAQRDLTPEQAAE
Ggallus  no homologue    
Trubripes  not conserved  ENSTRUG00000016445  330KFMVGYELLAQEQRDLTPEQAAE
Drerio  not conserved  ENSDARG00000069543  330KFMVGYEMLANEQRDLTPEQAAE
Dmelanogaster  all identical  FBgn0263200  325KFMVGFELLAMAQRDLTPEQAAQ
Celegans  not conserved  ZK1058.3  326KFLAGYEVFAEKQRDLSPEIAAK
Xtropicalis  all identical  ENSXETG00000013206  308KFMVGYEMLAQAQRDLTAEQAAE
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 1034
cDNA position
(for ins/del: last normal base / first normal base)		 1076
gDNA position
(for ins/del: last normal base / first normal base)		 11407
chromosomal position
(for ins/del: last normal base / first normal base)		 34649536
original gDNA sequence snippet CTACGAAATGCTTGCTCAGGCTCAGAGGGACCTCACCCCTG
altered gDNA sequence snippet CTACGAAATGCTTGCTCAGGATCAGAGGGACCTCACCCCTG
original cDNA sequence snippet CTACGAAATGCTTGCTCAGGCTCAGAGGGACCTCACCCCTG
altered cDNA sequence snippet CTACGAAATGCTTGCTCAGGATCAGAGGGACCTCACCCCTG
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 RLVLTSEHWL
VLVPFWATWP YQTLLLPRRH VRRLPELTPA ERDDLASIMK KLLTKYDNLF ETSFPYSMGW
HGAPTGSEAG ANWNHWQLHA HYYPPLLRSA TVRKFMVGYE MLAQDQRDLT PEQAAERLRA
LPEVHYHLGQ KDRETATIA*
speed 0.39 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