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 ENST00000371224
Genbank transcript ID NM_002860
UniProt peptide P54886
alteration type single base exchange
alteration region CDS
DNA changes c.2350C>T
cDNA.2488C>T
g.49907C>T
AA changes H784Y Score: 83 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 784
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      784DFSEHGSLKYLHENLPIPQRNTN*
mutated  all conserved    784KYLYENLPIPQRNTN
Ptroglodytes  all identical  ENSPTRG00000002785  768KYLHENLPIPQRNTN
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  779YSYLHENL
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 2388 / 2388
position (AA) of stopcodon in wt / mu AA sequence 796 / 796
position of stopcodon in wt / mu cDNA 2526 / 2526
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 2345
theoretical NMD boundary in CDS 2156
length of CDS 2388
coding sequence (CDS) position 2350
cDNA position
(for ins/del: last normal base / first normal base)		 2488
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 PNSDLQGVNV
ISVKDNDSLA ARLAVEMKTD LLIVLSDVEG LFDSPPGSDD AKLIDIFYPG DQQSVTFGTK
SRVGMGGMEA KVKAALWALQ GGTSVVIANG THPKVSGHVI TDIVEGKKVG TFFSEVKPAG
PTVEQQGEMA RSGGRMLATL EPEQRAEIIH HLADLLTDQR DEILLANKKD LEEAEGRLAA
PLLKRLSLST SKLNSLAIGL RQIAASSQDS VGRVLRRTRI AKNLELEQVT VPIGVLLVIF
ESRPDCLPQV AALAIASGNG LLLKGGKEAA HSNRILHLLT QEALSIHGVK EAVQLVNTRE
EVEDLCRLDK MIDLIIPRGS SQLVRDIQKA AKGIPVMGHS EGICHMYVDS EASVDKVTRL
VRDSKCEYPA ACNALETLLI HRDLLRTPLF DQIIDMLRVE QVKIHAGPKF ASYLTFSPSE
VKSLRTEYGD LELCIEVVDN VQDAIDHIHK YGSSHTDVIV TEDENTAEFF LQHVDSACVF
WNASTRFSDG YRFGLGAEVG ISTSRIHARG PVGLEGLLTT KWLLRGKDHV VSDFSEHGSL
KYLHENLPIP QRNTN*
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 PNSDLQGVNV
ISVKDNDSLA ARLAVEMKTD LLIVLSDVEG LFDSPPGSDD AKLIDIFYPG DQQSVTFGTK
SRVGMGGMEA KVKAALWALQ GGTSVVIANG THPKVSGHVI TDIVEGKKVG TFFSEVKPAG
PTVEQQGEMA RSGGRMLATL EPEQRAEIIH HLADLLTDQR DEILLANKKD LEEAEGRLAA
PLLKRLSLST SKLNSLAIGL RQIAASSQDS VGRVLRRTRI AKNLELEQVT VPIGVLLVIF
ESRPDCLPQV AALAIASGNG LLLKGGKEAA HSNRILHLLT QEALSIHGVK EAVQLVNTRE
EVEDLCRLDK MIDLIIPRGS SQLVRDIQKA AKGIPVMGHS EGICHMYVDS EASVDKVTRL
VRDSKCEYPA ACNALETLLI HRDLLRTPLF DQIIDMLRVE QVKIHAGPKF ASYLTFSPSE
VKSLRTEYGD LELCIEVVDN VQDAIDHIHK YGSSHTDVIV TEDENTAEFF LQHVDSACVF
WNASTRFSDG YRFGLGAEVG ISTSRIHARG PVGLEGLLTT KWLLRGKDHV VSDFSEHGSL
KYLYENLPIP QRNTN*
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