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mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999978172776      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM990677)
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr9:34649508A>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.1006A>T
cDNA.1048A>T
g.11379A>T
AA changes M336L Score: 15 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 336
frameshift no
known variant Reference ID: rs111033810
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC044

known disease mutation at this position, please check HGMD for details (HGMD ID CM990677)

known disease mutation at this position, please check HGMD for details (HGMD ID CM990677)
known disease mutation at this position, please check HGMD for details (HGMD ID CM990677)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.9591
4.6451
(flanking)4.6451
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 increased11370wt: 0.6531 / mu: 0.6975 (marginal change - not scored)wt: TCCTGCGCTCTGCCACTGTCCGGAAATTCATGGTTGGCTAC
mu: TCCTGCGCTCTGCCACTGTCCGGAAATTCTTGGTTGGCTAC		 gtcc|GGAA
Donor marginally increased11370wt: 0.9774 / mu: 0.9872 (marginal change - not scored)wt: CTGTCCGGAAATTCA
mu: CTGTCCGGAAATTCT		 GTCC|ggaa
distance from splice site 54
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      336PLLRSATVRKFMVGYEMLAQAQRD
mutated  all conserved    336PLLRSATVRKFLVGYEMLAQAQR
Ptroglodytes  all identical  ENSPTRG00000020886  336PLLRSATVRKFMVGYEMLAQAQR
Mmulatta  all identical  ENSMMUG00000020789  336PLLRSATVRKFMVGYEMLAQAQR
Fcatus  all identical  ENSFCAG00000016304  336PLLRSATIRKFMVGYEMLAQAQR
Mmusculus  all identical  ENSMUSG00000036073  317PLLRSATVRKFMVGYEMLAQAQR
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000016445  321PLLRSATVKKFMVGYELLAQEQR
Drerio  all identical  ENSDARG00000069543  321PLLRSANIRKFMVGYEMLANEQR
Dmelanogaster  all identical  FBgn0263200  316PLLRSASVRKFMVGFELLAMAQR
Celegans  all conserved  ZK1058.3  317LRSATVPKFLAGYEVFAEKQR
Xtropicalis  all identical  ENSXETG00000013206  299PLLRSATVRKFMVGYEMLAQAQR
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 1006
cDNA position
(for ins/del: last normal base / first normal base)		 1048
gDNA position
(for ins/del: last normal base / first normal base)		 11379
chromosomal position
(for ins/del: last normal base / first normal base)		 34649508
original gDNA sequence snippet CTGCCACTGTCCGGAAATTCATGGTTGGCTACGAAATGCTT
altered gDNA sequence snippet CTGCCACTGTCCGGAAATTCTTGGTTGGCTACGAAATGCTT
original cDNA sequence snippet CTGCCACTGTCCGGAAATTCATGGTTGGCTACGAAATGCTT
altered cDNA sequence snippet CTGCCACTGTCCGGAAATTCTTGGTTGGCTACGAAATGCTT
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 TVRKFLVGYE MLAQAQRDLT PEQAAERLRA
LPEVHYHLGQ KDRETATIA*
speed 0.99 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