Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999998587332      (explain)
Summary
  • amino acid sequence changed
  • known as potential disease variant: rs8332 (probable pathogenic)
  • known disease mutation at this position (HGMD CM950201)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:121976155C>TN/A show variant in all transcripts   IGV
HGNC symbol CASR
Ensembl transcript ID ENST00000498619
Genbank transcript ID NM_001178065
UniProt peptide P41180
alteration type single base exchange
alteration region CDS
DNA changes c.413C>T
cDNA.851C>T
g.73626C>T
AA changes T138M Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 138
frameshift no
known variant Reference ID: rs121909263
Allele 'T' was neither found in ExAC nor 1000G.
known as potential disease variant: rs8332 (probable pathogenic for Hypocalciuric hypercalcemia, familial, type 1|Hypocalcemia, autosomal dominant 1) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM950201)

known disease mutation at this position, please check HGMD for details (HGMD ID CM950201)
known disease mutation at this position, please check HGMD for details (HGMD ID CM950201)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.9481
5.9881
(flanking)-1.3720.075
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 increased73628wt: 0.9048 / mu: 0.9300 (marginal change - not scored)wt: CAGAGCACATTCCCTCTACGATTGCTGTGGTGGGAGCAACT
mu: CAGAGCACATTCCCTCTATGATTGCTGTGGTGGGAGCAACT		 acga|TTGC
Acc increased73635wt: 0.47 / mu: 0.71wt: CATTCCCTCTACGATTGCTGTGGTGGGAGCAACTGGCTCAG
mu: CATTCCCTCTATGATTGCTGTGGTGGGAGCAACTGGCTCAG		 ctgt|GGTG
Acc increased73631wt: 0.59 / mu: 0.71wt: AGCACATTCCCTCTACGATTGCTGTGGTGGGAGCAACTGGC
mu: AGCACATTCCCTCTATGATTGCTGTGGTGGGAGCAACTGGC		 attg|CTGT
Acc marginally increased73626wt: 0.9476 / mu: 0.9520 (marginal change - not scored)wt: CTCAGAGCACATTCCCTCTACGATTGCTGTGGTGGGAGCAA
mu: CTCAGAGCACATTCCCTCTATGATTGCTGTGGTGGGAGCAA		 ctac|GATT
distance from splice site 80
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      138EFCNCSEHIPSTIAVVGATGSGVS
mutated  not conserved    138EFCNCSEHIPSMIAVVGATGSGV
Ptroglodytes  all identical  ENSPTRG00000015289  138EFCNCSEHIPSTIAVVGATGSGV
Mmulatta  all identical  ENSMMUG00000007886  138EFCNCSEHIPSTIAVVGATGSGV
Fcatus  all identical  ENSFCAG00000008717  138EFCNCSEHIPSTIAVVGATGSGI
Mmusculus  all identical  ENSMUSG00000051980  138EFCNCSEHIPSTIAVVGATGSGV
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000016870  139CNCTDHIPATIAVVGAAGSAV
Drerio  all identical  ENSDARG00000013649  138EFCNCTGNIPSTIAVVGASGSAV
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000011400  137NCSEHMPSTIAVVGATGSGV
protein features
start (aa)end (aa)featuredetails 
20612TOPO_DOMExtracellular (Potential).lost
261261CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
287287CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
386386CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
400400CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
446446CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
468468CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
488488CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
541541CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
594594CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
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 3267 / 3267
position (AA) of stopcodon in wt / mu AA sequence 1089 / 1089
position of stopcodon in wt / mu cDNA 3705 / 3705
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 439 / 439
chromosome 3
strand 1
last intron/exon boundary 2201
theoretical NMD boundary in CDS 1712
length of CDS 3267
coding sequence (CDS) position 413
cDNA position
(for ins/del: last normal base / first normal base)		 851
gDNA position
(for ins/del: last normal base / first normal base)		 73626
chromosomal position
(for ins/del: last normal base / first normal base)		 121976155
original gDNA sequence snippet CTCAGAGCACATTCCCTCTACGATTGCTGTGGTGGGAGCAA
altered gDNA sequence snippet CTCAGAGCACATTCCCTCTATGATTGCTGTGGTGGGAGCAA
original cDNA sequence snippet CTCAGAGCACATTCCCTCTACGATTGCTGTGGTGGGAGCAA
altered cDNA sequence snippet CTCAGAGCACATTCCCTCTATGATTGCTGTGGTGGGAGCAA
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 SGFSREPLTF
VLSVLQVPFS 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 CSEHIPSMIA 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 SGFSREPLTF
VLSVLQVPFS 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*
speed 1.10 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