Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999530496 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM085228)
  • known disease mutation: rs16086 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr10:97366557G>AN/A show variant in all transcripts   IGV
HGNC symbol ALDH18A1
Ensembl transcript ID ENST00000371221
Genbank transcript ID NM_001017423
UniProt peptide P54886
alteration type single base exchange
alteration region CDS
DNA changes c.2344C>T
cDNA.2482C>T
g.49907C>T
AA changes H782Y Score: 83 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 782
frameshift no
known variant Reference ID: rs121434583
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs16086 (pathogenic for Cutis laxa, autosomal recessive IIIA) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM085228)

known disease mutation at this position, please check HGMD for details (HGMD ID CM085228)
known disease mutation at this position, please check HGMD for details (HGMD ID CM085228)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.1461
5.0031
(flanking)0.981
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc gained499110.46mu: AAGTTTAAAATATCTTTATGAGAACCTCCCTATTCCTCAGA atga|GAAC
distance from splice site 144
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      782DFSEHGSLKYLHENLPIPQRNTN*
mutated  all conserved    782LYENLPIPQRNTN
Ptroglodytes  all identical  ENSPTRG00000002785  768LHENLPIPQRNTN
Mmulatta  all identical  ENSMMUG00000003102  784KYLHENLPVPQRNTN
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000025007  784KYLHENLPVPQRN
Ggallus  all identical  ENSGALG00000010522  797DFSEHGSMKYLHENLPLPHRNTS
Trubripes  all identical  ENSTRUG00000017580  791DFSEQGSMKYLHENIPVPQGSFN
Drerio  all identical  ENSDARG00000061123  768DFSEHGSMTYLHENLPVAQ
Dmelanogaster  all identical  FBgn0037146  770DFAEGGGRTWLHETLPL
Celegans  all identical  T22H6.2  779YLHENL
Xtropicalis  all identical  ENSXETG00000022613  786DFSEQGSKKYLHEKLPVPQTSSS
protein features
start (aa)end (aa)featuredetails 
362795REGIONGamma-glutamyl phosphate reductase.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2382 / 2382
position (AA) of stopcodon in wt / mu AA sequence 794 / 794
position of stopcodon in wt / mu cDNA 2520 / 2520
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 139 / 139
chromosome 10
strand -1
last intron/exon boundary 2339
theoretical NMD boundary in CDS 2150
length of CDS 2382
coding sequence (CDS) position 2344
cDNA position
(for ins/del: last normal base / first normal base)		 2482
gDNA position
(for ins/del: last normal base / first normal base)		 49907
chromosomal position
(for ins/del: last normal base / first normal base)		 97366557
original gDNA sequence snippet ATGGAAGTTTAAAATATCTTCATGAGAACCTCCCTATTCCT
altered gDNA sequence snippet ATGGAAGTTTAAAATATCTTTATGAGAACCTCCCTATTCCT
original cDNA sequence snippet ATGGAAGTTTAAAATATCTTCATGAGAACCTCCCTATTCCT
altered cDNA sequence snippet ATGGAAGTTTAAAATATCTTTATGAGAACCTCCCTATTCCT
wildtype AA sequence MLSQVYRCGF QPFNQHLLPW VKCTTVFRSH CIQPSVIRHV RSWSNIPFIT VPLSRTHGKS
FAHRSELKHA KRIVVKLGSA VVTRGDECGL ALGRLASIVE QVSVLQNQGR EMMLVTSGAV
AFGKQRLRHE ILLSQSVRQA LHSGQNQLKE MAIPVLEARA CAAAGQSGLM ALYEAMFTQY
SICAAQILVT NLDFHDEQKR RNLNGTLHEL LRMNIVPIVN TNDAVVPPAE PNSDLQGVIS
VKDNDSLAAR LAVEMKTDLL IVLSDVEGLF DSPPGSDDAK LIDIFYPGDQ QSVTFGTKSR
VGMGGMEAKV KAALWALQGG TSVVIANGTH PKVSGHVITD IVEGKKVGTF FSEVKPAGPT
VEQQGEMARS GGRMLATLEP EQRAEIIHHL ADLLTDQRDE ILLANKKDLE EAEGRLAAPL
LKRLSLSTSK LNSLAIGLRQ IAASSQDSVG RVLRRTRIAK NLELEQVTVP IGVLLVIFES
RPDCLPQVAA LAIASGNGLL LKGGKEAAHS NRILHLLTQE ALSIHGVKEA VQLVNTREEV
EDLCRLDKMI DLIIPRGSSQ LVRDIQKAAK GIPVMGHSEG ICHMYVDSEA SVDKVTRLVR
DSKCEYPAAC NALETLLIHR DLLRTPLFDQ IIDMLRVEQV KIHAGPKFAS YLTFSPSEVK
SLRTEYGDLE LCIEVVDNVQ DAIDHIHKYG SSHTDVIVTE DENTAEFFLQ HVDSACVFWN
ASTRFSDGYR FGLGAEVGIS TSRIHARGPV GLEGLLTTKW LLRGKDHVVS DFSEHGSLKY
LHENLPIPQR NTN*
mutated AA sequence MLSQVYRCGF QPFNQHLLPW VKCTTVFRSH CIQPSVIRHV RSWSNIPFIT VPLSRTHGKS
FAHRSELKHA KRIVVKLGSA VVTRGDECGL ALGRLASIVE QVSVLQNQGR EMMLVTSGAV
AFGKQRLRHE ILLSQSVRQA LHSGQNQLKE MAIPVLEARA CAAAGQSGLM ALYEAMFTQY
SICAAQILVT NLDFHDEQKR RNLNGTLHEL LRMNIVPIVN TNDAVVPPAE PNSDLQGVIS
VKDNDSLAAR LAVEMKTDLL IVLSDVEGLF DSPPGSDDAK LIDIFYPGDQ QSVTFGTKSR
VGMGGMEAKV KAALWALQGG TSVVIANGTH PKVSGHVITD IVEGKKVGTF FSEVKPAGPT
VEQQGEMARS GGRMLATLEP EQRAEIIHHL ADLLTDQRDE ILLANKKDLE EAEGRLAAPL
LKRLSLSTSK LNSLAIGLRQ IAASSQDSVG RVLRRTRIAK NLELEQVTVP IGVLLVIFES
RPDCLPQVAA LAIASGNGLL LKGGKEAAHS NRILHLLTQE ALSIHGVKEA VQLVNTREEV
EDLCRLDKMI DLIIPRGSSQ LVRDIQKAAK GIPVMGHSEG ICHMYVDSEA SVDKVTRLVR
DSKCEYPAAC NALETLLIHR DLLRTPLFDQ IIDMLRVEQV KIHAGPKFAS YLTFSPSEVK
SLRTEYGDLE LCIEVVDNVQ DAIDHIHKYG SSHTDVIVTE DENTAEFFLQ HVDSACVFWN
ASTRFSDGYR FGLGAEVGIS TSRIHARGPV GLEGLLTTKW LLRGKDHVVS DFSEHGSLKY
LYENLPIPQR NTN*
speed 0.66 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