Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999998952436 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM030375)
  • known disease mutation: rs8350 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:122002611G>AN/A show variant in all transcripts   IGV
HGNC symbol CASR
Ensembl transcript ID ENST00000490131
Genbank transcript ID NM_000388
UniProt peptide P41180
alteration type single base exchange
alteration region CDS
DNA changes c.1810G>A
cDNA.2182G>A
g.100082G>A
AA changes E604K Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 604
frameshift no
known variant Reference ID: rs104893712
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs8350 (pathogenic for Hypocalcemia, autosomal dominant 1|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM030375)

known disease mutation at this position, please check HGMD for details (HGMD ID CM030375)
known disease mutation at this position, please check HGMD for details (HGMD ID CM030375)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-2.1520.053
6.0661
(flanking)5.0121
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased100074wt: 0.47 / mu: 0.79wt: TGCCAAGGAGATCGA
mu: TGCCAAGGAGATCAA		 CCAA|ggag
Donor marginally increased100078wt: 0.9300 / mu: 0.9916 (marginal change - not scored)wt: AAGGAGATCGAGTTT
mu: AAGGAGATCAAGTTT		 GGAG|atcg
distance from splice site 78
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      604ENHTSCIAKEIEFLSWTEPFGIAL
mutated  all conserved    604KEIKFLSWTEPFGIA
Ptroglodytes  all identical  ENSPTRG00000015289  614ENHTSCIAKEIEFLSWTEPFGIA
Mmulatta  all identical  ENSMMUG00000007886  614ENHTSCIAKEIEFLSWTEPFGIA
Fcatus  all identical  ENSFCAG00000008717  613ENHTSCIAKEIEFLSWTEPFGIA
Mmusculus  all identical  ENSMUSG00000051980  604KEIEFLAWTEPFGIA
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000016870  590GNHTFCFLKEIEFLAW
Drerio  all identical  ENSDARG00000013649  591FLKQIEFLSWTEPFGIA
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000011400  597DNHTSCIAKQIEFLSWT
protein features
start (aa)end (aa)featuredetails 
20612TOPO_DOMExtracellular (Potential).lost
613635TRANSMEMHelical; Name=1; (Potential).might get lost (downstream of altered splice site)
636649TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
650670TRANSMEMHelical; Name=2; (Potential).might get lost (downstream of altered splice site)
671681TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
682700TRANSMEMHelical; Name=3; (Potential).might get lost (downstream of altered splice site)
701724TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
725745TRANSMEMHelical; Name=4; (Potential).might get lost (downstream of altered splice site)
746769TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
770792TRANSMEMHelical; Name=5; (Potential).might get lost (downstream of altered splice site)
793805TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
806828TRANSMEMHelical; Name=6; (Potential).might get lost (downstream of altered splice site)
829836TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
837862TRANSMEMHelical; Name=7; (Potential).might get lost (downstream of altered splice site)
857857CONFLICTI -> T (in Ref. 3; BAA09453).might get lost (downstream of altered splice site)
8631078TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
878878CONFLICTA -> R (in Ref. 3; BAA09453).might get lost (downstream of altered splice site)
880900REGIONInteraction with RNF19A.might get lost (downstream of altered splice site)
926926CONFLICTQ -> R (in Ref. 2; AAA86503).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3237 / 3237
position (AA) of stopcodon in wt / mu AA sequence 1079 / 1079
position of stopcodon in wt / mu cDNA 3609 / 3609
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 373 / 373
chromosome 3
strand 1
last intron/exon boundary 2105
theoretical NMD boundary in CDS 1682
length of CDS 3237
coding sequence (CDS) position 1810
cDNA position
(for ins/del: last normal base / first normal base)		 2182
gDNA position
(for ins/del: last normal base / first normal base)		 100082
chromosomal position
(for ins/del: last normal base / first normal base)		 122002611
original gDNA sequence snippet CCTGCATTGCCAAGGAGATCGAGTTTCTGTCGTGGACGGAG
altered gDNA sequence snippet CCTGCATTGCCAAGGAGATCAAGTTTCTGTCGTGGACGGAG
original cDNA sequence snippet CCTGCATTGCCAAGGAGATCGAGTTTCTGTCGTGGACGGAG
altered cDNA sequence snippet CCTGCATTGCCAAGGAGATCAAGTTTCTGTCGTGGACGGAG
wildtype AA sequence MAFYSCCWVL LALTWHTSAY GPDQRAQKKG DIILGGLFPI HFGVAAKDQD LKSRPESVEC
IRYNFRGFRW LQAMIFAIEE INSSPALLPN LTLGYRIFDT CNTVSKALEA TLSFVAQNKI
DSLNLDEFCN CSEHIPSTIA VVGATGSGVS TAVANLLGLF YIPQVSYASS SRLLSNKNQF
KSFLRTIPND EHQATAMADI IEYFRWNWVG TIAADDDYGR PGIEKFREEA EERDICIDFS
ELISQYSDEE EIQHVVEVIQ NSTAKVIVVF SSGPDLEPLI KEIVRRNITG KIWLASEAWA
SSSLIAMPQY FHVVGGTIGF ALKAGQIPGF REFLKKVHPR KSVHNGFAKE FWEETFNCHL
QEGAKGPLPV DTFLRGHEES GDRFSNSSTA FRPLCTGDEN ISSVETPYID YTHLRISYNV
YLAVYSIAHA LQDIYTCLPG RGLFTNGSCA DIKKVEAWQV LKHLRHLNFT NNMGEQVTFD
ECGDLVGNYS IINWHLSPED GSIVFKEVGY YNVYAKKGER LFINEEKILW SGFSREVPFS
NCSRDCLAGT RKGIIEGEPT CCFECVECPD GEYSDETDAS ACNKCPDDFW SNENHTSCIA
KEIEFLSWTE PFGIALTLFA VLGIFLTAFV LGVFIKFRNT PIVKATNREL SYLLLFSLLC
CFSSSLFFIG EPQDWTCRLR QPAFGISFVL CISCILVKTN RVLLVFEAKI PTSFHRKWWG
LNLQFLLVFL CTFMQIVICV IWLYTAPPSS YRNQELEDEI IFITCHEGSL MALGFLIGYT
CLLAAICFFF AFKSRKLPEN FNEAKFITFS MLIFFIVWIS FIPAYASTYG KFVSAVEVIA
ILAASFGLLA CIFFNKIYII LFKPSRNTIE EVRCSTAAHA FKVAARATLR RSNVSRKRSS
SLGGSTGSTP SSSISSKSNS EDPFPQPERQ KQQQPLALTQ QEQQQQPLTL PQQQRSQQQP
RCKQKVIFGS GTVTFSLSFD EPQKNAMAHR NSTHQNSLEA QKSSDTLTRH EPLLPLQCGE
TDLDLTVQET GLQGPVGGDQ RPEVEDPEEL SPALVVSSSQ SFVISGGGST VTENVVNS*
mutated AA sequence MAFYSCCWVL LALTWHTSAY GPDQRAQKKG DIILGGLFPI HFGVAAKDQD LKSRPESVEC
IRYNFRGFRW LQAMIFAIEE INSSPALLPN LTLGYRIFDT CNTVSKALEA TLSFVAQNKI
DSLNLDEFCN CSEHIPSTIA VVGATGSGVS TAVANLLGLF YIPQVSYASS SRLLSNKNQF
KSFLRTIPND EHQATAMADI IEYFRWNWVG TIAADDDYGR PGIEKFREEA EERDICIDFS
ELISQYSDEE EIQHVVEVIQ NSTAKVIVVF SSGPDLEPLI KEIVRRNITG KIWLASEAWA
SSSLIAMPQY FHVVGGTIGF ALKAGQIPGF REFLKKVHPR KSVHNGFAKE FWEETFNCHL
QEGAKGPLPV DTFLRGHEES GDRFSNSSTA FRPLCTGDEN ISSVETPYID YTHLRISYNV
YLAVYSIAHA LQDIYTCLPG RGLFTNGSCA DIKKVEAWQV LKHLRHLNFT NNMGEQVTFD
ECGDLVGNYS IINWHLSPED GSIVFKEVGY YNVYAKKGER LFINEEKILW SGFSREVPFS
NCSRDCLAGT RKGIIEGEPT CCFECVECPD GEYSDETDAS ACNKCPDDFW SNENHTSCIA
KEIKFLSWTE PFGIALTLFA VLGIFLTAFV LGVFIKFRNT PIVKATNREL SYLLLFSLLC
CFSSSLFFIG EPQDWTCRLR QPAFGISFVL CISCILVKTN RVLLVFEAKI PTSFHRKWWG
LNLQFLLVFL CTFMQIVICV IWLYTAPPSS YRNQELEDEI IFITCHEGSL MALGFLIGYT
CLLAAICFFF AFKSRKLPEN FNEAKFITFS MLIFFIVWIS FIPAYASTYG KFVSAVEVIA
ILAASFGLLA CIFFNKIYII LFKPSRNTIE EVRCSTAAHA FKVAARATLR RSNVSRKRSS
SLGGSTGSTP SSSISSKSNS EDPFPQPERQ KQQQPLALTQ QEQQQQPLTL PQQQRSQQQP
RCKQKVIFGS GTVTFSLSFD EPQKNAMAHR NSTHQNSLEA QKSSDTLTRH EPLLPLQCGE
TDLDLTVQET GLQGPVGGDQ RPEVEDPEEL SPALVVSSSQ SFVISGGGST VTENVVNS*
speed 0.95 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