Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.99999895210198 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CD076766)
  • known disease mutation at this position (HGMD CM930079)
  • known disease mutation: rs8312 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:122003184C>TN/A show variant in all transcripts   IGV
HGNC symbol CASR
Ensembl transcript ID ENST00000296154
Genbank transcript ID N/A
UniProt peptide P41180
alteration type single base exchange
alteration region CDS
DNA changes c.2383C>T
cDNA.2411C>T
g.100655C>T
AA changes R795W Score: 101 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 795
frameshift no
known variant Reference ID: rs121909258
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs8312 (pathogenic for Hypocalciuric hypercalcemia, familial, type 1|Hypocalcemia, autosomal dominant 1|Familial hypocalciuric hypercalcemia|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CD076766)

known disease mutation at this position, please check HGMD for details (HGMD ID CD076766)
known disease mutation at this position, please check HGMD for details (HGMD ID CM930079)

known disease mutation at this position, please check HGMD for details (HGMD ID CD076766)
known disease mutation at this position, please check HGMD for details (HGMD ID CM930079)
known disease mutation at this position, please check HGMD for details (HGMD ID CD076766)

known disease mutation at this position, please check HGMD for details (HGMD ID CD076766)
known disease mutation at this position, please check HGMD for details (HGMD ID CM930079)
known disease mutation at this position, please check HGMD for details (HGMD ID CD076766)
known disease mutation at this position, please check HGMD for details (HGMD ID CM930079)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1390.992
1.1060.996
(flanking)6.131
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 increased100646wt: 0.9495 / mu: 0.9636 (marginal change - not scored)wt: CCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCG
mu: CCATCTGCTTCTTCTTTGCCTTCAAGTCCTGGAAGCTGCCG		 gcct|TCAA
Acc marginally increased100656wt: 0.3652 / mu: 0.3655 (marginal change - not scored)wt: CTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCA
mu: CTTCTTTGCCTTCAAGTCCTGGAAGCTGCCGGAGAACTTCA		 cccg|GAAG
Acc increased100645wt: 0.27 / mu: 0.36wt: GCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCC
mu: GCCATCTGCTTCTTCTTTGCCTTCAAGTCCTGGAAGCTGCC		 tgcc|TTCA
distance from splice site 651
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      795AAICFFFAFKSRKLPENFNEAKFI
mutated  not conserved    795AAICFFFAFKSWKLPENFNEAKF
Ptroglodytes  all identical  ENSPTRG00000015289  805AAVCFFFAFKSRKLPENFNEAKF
Mmulatta  all identical  ENSMMUG00000007886  805AAICFFFAFKSRKLPENFNEAKF
Fcatus  all identical  ENSFCAG00000008717  804AAICFFFAFKSRKLPENFNEAKF
Mmusculus  all identical  ENSMUSG00000051980  795AAICFFFAFKSRKLPENFNEAKF
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000016870  780FFAFKSRKLPENFTEAKF
Drerio  all identical  ENSDARG00000013649  781AAICFFFAFKSRKLPENFTEAKF
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000011400  788FAFKARKLPENFNEAKF
protein features
start (aa)end (aa)featuredetails 
770792TRANSMEMHelical; Name=5; (Potential).might get lost (downstream of altered splice site)
793805TOPO_DOMCytoplasmic (Potential).lost
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 3265 / 3265
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 29 / 29
chromosome 3
strand 1
last intron/exon boundary 1761
theoretical NMD boundary in CDS 1682
length of CDS 3237
coding sequence (CDS) position 2383
cDNA position
(for ins/del: last normal base / first normal base)		 2411
gDNA position
(for ins/del: last normal base / first normal base)		 100655
chromosomal position
(for ins/del: last normal base / first normal base)		 122003184
original gDNA sequence snippet TCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTC
altered gDNA sequence snippet TCTTCTTTGCCTTCAAGTCCTGGAAGCTGCCGGAGAACTTC
original cDNA sequence snippet TCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAACTTC
altered cDNA sequence snippet TCTTCTTTGCCTTCAAGTCCTGGAAGCTGCCGGAGAACTTC
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
KEIEFLSWTE PFGIALTLFA VLGIFLTAFV LGVFIKFRNT PIVKATNREL SYLLLFSLLC
CFSSSLFFIG EPQDWTCRLR QPAFGISFVL CISCILVKTN RVLLVFEAKI PTSFHRKWWG
LNLQFLLVFL CTFMQIVICV IWLYTAPPSS YRNQELEDEI IFITCHEGSL MALGFLIGYT
CLLAAICFFF AFKSWKLPEN 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 0.64 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