Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999915693808 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM970065)
  • known disease mutation: rs5647 (pathogenic)
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:241814542C>TN/A show variant in all transcripts   IGV
HGNC symbol AGXT
Ensembl transcript ID ENST00000307503
Genbank transcript ID NM_000030
UniProt peptide P21549
alteration type single base exchange
alteration region CDS
DNA changes c.697C>T
cDNA.1084C>T
g.6647C>T
AA changes R233C Score: 180 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 233
frameshift no
known variant Reference ID: rs121908526
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC01010

known disease mutation: rs5647 (pathogenic for Primary hyperoxaluria, type I|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM970065)

known disease mutation at this position, please check HGMD for details (HGMD ID CM970065)
known disease mutation at this position, please check HGMD for details (HGMD ID CM970065)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.2730.018
0.9470.739
(flanking)4.5420.977
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 17
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      233FSDKAKKKMYSRKTKPFSFYLDIK
mutated  not conserved    233FSDKAKKKMYSCKTKPFSF
Ptroglodytes  not conserved  ENSPTRG00000013113  209FSDKA--------------
Mmulatta  all identical  ENSMMUG00000023435  255FSDKAKKKMYSRKTKPFSF
Fcatus  not conserved  ENSFCAG00000010448  233FSDKAXXXXXXXXXXXXXX
Mmusculus  all identical  ENSMUSG00000026272  255FNDKAKYKVYSRKTKPVSF
Ggallus  all identical  ENSGALG00000020943  256FSERAREKMLRRKTKPPSF
Trubripes  all identical  ENSTRUG00000007149  263FNDRACHKMFNRKTKPLSYLFDM
Drerio  all identical  ENSDARG00000018478  263FNERACQKMFNRKTKPVSYLLDM
Dmelanogaster  all identical  FBgn0014031  229FSKRALTRIRKRKTKPKVYYFDI
Celegans  all identical  T14D7.1  250FSDRAMEKIRNRKQRVASFYFDA
Xtropicalis  all identical  ENSXETG00000012149  256FSETASKKIFSRKTKPPSLYVDL
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1179 / 1179
position (AA) of stopcodon in wt / mu AA sequence 393 / 393
position of stopcodon in wt / mu cDNA 1566 / 1566
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 388 / 388
chromosome 2
strand 1
last intron/exon boundary 1459
theoretical NMD boundary in CDS 1021
length of CDS 1179
coding sequence (CDS) position 697
cDNA position
(for ins/del: last normal base / first normal base)		 1084
gDNA position
(for ins/del: last normal base / first normal base)		 6647
chromosomal position
(for ins/del: last normal base / first normal base)		 241814542
original gDNA sequence snippet CCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCC
altered gDNA sequence snippet CCAGAAAGAAGATGTACTCCTGCAAGACGAAGCCCTTCTCC
original cDNA sequence snippet CCAAAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCC
altered cDNA sequence snippet CCAAAAAGAAGATGTACTCCTGCAAGACGAAGCCCTTCTCC
wildtype AA sequence MASHKLLVTP PKALLKPLSI PNQLLLGPGP SNLPPRIMAA GGLQMIGSMS KDMYQIMDEI
KEGIQYVFQT RNPLTLVISG SGHCALEAAL VNVLEPGDSF LVGANGIWGQ RAVDIGERIG
ARVHPMTKDP GGHYTLQEVE EGLAQHKPVL LFLTHGESST GVLQPLDGFG ELCHRYKCLL
LVDSVASLGG TPLYMDRQGI DILYSGSQKA LNAPPGTSLI SFSDKAKKKM YSRKTKPFSF
YLDIKWLANF WGCDDQPRMY HHTIPVISLY SLRESLALIA EQGLENSWRQ HREAAAYLHG
RLQALGLQLF VKDPALRLPT VTTVAVPAGY DWRDIVSYVI DHFDIEIMGG LGPSTGKVLR
IGLLGCNATR ENVDRVTEAL RAALQHCPKK KL*
mutated AA sequence MASHKLLVTP PKALLKPLSI PNQLLLGPGP SNLPPRIMAA GGLQMIGSMS KDMYQIMDEI
KEGIQYVFQT RNPLTLVISG SGHCALEAAL VNVLEPGDSF LVGANGIWGQ RAVDIGERIG
ARVHPMTKDP GGHYTLQEVE EGLAQHKPVL LFLTHGESST GVLQPLDGFG ELCHRYKCLL
LVDSVASLGG TPLYMDRQGI DILYSGSQKA LNAPPGTSLI SFSDKAKKKM YSCKTKPFSF
YLDIKWLANF WGCDDQPRMY HHTIPVISLY SLRESLALIA EQGLENSWRQ HREAAAYLHG
RLQALGLQLF VKDPALRLPT VTTVAVPAGY DWRDIVSYVI DHFDIEIMGG LGPSTGKVLR
IGLLGCNATR ENVDRVTEAL RAALQHCPKK KL*
speed 1.13 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