Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999999977 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM074208)
  • known disease mutation: rs25308 (pathogenic)
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr9:34649482T>CN/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.980T>C
cDNA.1022T>C
g.11353T>C
AA changes L327P Score: 98 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 327
frameshift no
known variant Reference ID: rs111033832
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs25308 (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 CM074208)

known disease mutation at this position, please check HGMD for details (HGMD ID CM074208)
known disease mutation at this position, please check HGMD for details (HGMD ID CM074208)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.7430.947
4.6861
(flanking)2.8751
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased11347wt: 0.29 / mu: 0.39wt: GCACGCTCATTACTACCCTCCGCTCCTGCGCTCTGCCACTG
mu: GCACGCTCATTACTACCCTCCGCTCCCGCGCTCTGCCACTG		 ctcc|GCTC
Acc marginally increased11344wt: 0.2742 / mu: 0.2772 (marginal change - not scored)wt: GCTGCACGCTCATTACTACCCTCCGCTCCTGCGCTCTGCCA
mu: GCTGCACGCTCATTACTACCCTCCGCTCCCGCGCTCTGCCA		 accc|TCCG
Acc increased11348wt: 0.41 / mu: 0.53wt: CACGCTCATTACTACCCTCCGCTCCTGCGCTCTGCCACTGT
mu: CACGCTCATTACTACCCTCCGCTCCCGCGCTCTGCCACTGT		 tccg|CTCC
Acc marginally increased11359wt: 0.2763 / mu: 0.3015 (marginal change - not scored)wt: CTACCCTCCGCTCCTGCGCTCTGCCACTGTCCGGAAATTCA
mu: CTACCCTCCGCTCCCGCGCTCTGCCACTGTCCGGAAATTCA		 gctc|TGCC
Acc increased11357wt: 0.62 / mu: 0.68wt: TACTACCCTCCGCTCCTGCGCTCTGCCACTGTCCGGAAATT
mu: TACTACCCTCCGCTCCCGCGCTCTGCCACTGTCCGGAAATT		 gcgc|TCTG
Acc marginally increased11354wt: 0.9298 / mu: 0.9395 (marginal change - not scored)wt: CATTACTACCCTCCGCTCCTGCGCTCTGCCACTGTCCGGAA
mu: CATTACTACCCTCCGCTCCCGCGCTCTGCCACTGTCCGGAA		 cctg|CGCT
distance from splice site 76
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      327WQLHAHYYPPLLRSATVRKFMVGY
mutated  not conserved    327WQLHAHYYPPLPRSATVRKFMVG
Ptroglodytes  all identical  ENSPTRG00000020886  327WQLHAHYYPPLLRSATVRKFMVG
Mmulatta  all identical  ENSMMUG00000020789  327WQLHAHYYPPLLRSATVRKFMVG
Fcatus  all identical  ENSFCAG00000016304  327WQLHAHYYPPLLRSATIRKFMVG
Mmusculus  all identical  ENSMUSG00000036073  308HYYPPLLRSATVRKFMVG
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000016445  312YPPLLRSATVKKFMVG
Drerio  all identical  ENSDARG00000069543  312YPPLLRSANIRKFMVG
Dmelanogaster  all identical  FBgn0263200  307YPPLLRSASVRKFMVG
Celegans  all identical  ZK1058.3  308LRSATVPKFLAG
Xtropicalis  all identical  ENSXETG00000013206  290WQLHAHFYPPLLRSATVRKFMVG
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 980
cDNA position
(for ins/del: last normal base / first normal base)		 1022
gDNA position
(for ins/del: last normal base / first normal base)		 11353
chromosomal position
(for ins/del: last normal base / first normal base)		 34649482
original gDNA sequence snippet TCATTACTACCCTCCGCTCCTGCGCTCTGCCACTGTCCGGA
altered gDNA sequence snippet TCATTACTACCCTCCGCTCCCGCGCTCTGCCACTGTCCGGA
original cDNA sequence snippet TCATTACTACCCTCCGCTCCTGCGCTCTGCCACTGTCCGGA
altered cDNA sequence snippet TCATTACTACCCTCCGCTCCCGCGCTCTGCCACTGTCCGGA
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 HYYPPLPRSA TVRKFMVGYE MLAQAQRDLT PEQAAERLRA
LPEVHYHLGQ KDRETATIA*
speed 1.06 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