Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999920935598 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM062491)
  • known disease mutation: rs8354 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:122002981T>AN/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.2210T>A
cDNA.2648T>A
g.100452T>A
AA changes L737Q Score: 113 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 737
frameshift no
known variant Reference ID: rs104893718
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs8354 (pathogenic for Hypocalcemia, autosomal dominant 1) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM062491)

known disease mutation at this position, please check HGMD for details (HGMD ID CM062491)
known disease mutation at this position, please check HGMD for details (HGMD ID CM062491)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.6361
5.0651
(flanking)0.4151
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 448
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      737RKWWGLNLQFLLVFLCTFMQIVIC
mutated  not conserved    737RKWWGLNLQFLQVFLCTFMQIVI
Ptroglodytes  all identical  ENSPTRG00000015289  737RKWWGLNLQFLLVFLCTFMQIVI
Mmulatta  all identical  ENSMMUG00000007886  737RKWWGLNLQFLLVFLCTFMQIVI
Fcatus  all identical  ENSFCAG00000008717  736RKWWGLNLQFLLVFLCTFMQIVI
Mmusculus  all identical  ENSMUSG00000051980  727RKWWGLNLQFLLVFLCTFMQIVI
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000016870  713WGLNLQFLLVFLCTFVQVMI
Drerio  all identical  ENSDARG00000013649  714RKWWGLNLQFLLVFLFTFVQVMI
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000011400  720GLNLQFLLVFLCTFVQIVT
protein features
start (aa)end (aa)featuredetails 
725745TRANSMEMHelical; Name=4; (Potential).lost
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 2210
cDNA position
(for ins/del: last normal base / first normal base)		 2648
gDNA position
(for ins/del: last normal base / first normal base)		 100452
chromosomal position
(for ins/del: last normal base / first normal base)		 122002981
original gDNA sequence snippet GCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCA
altered gDNA sequence snippet GCTCAACCTGCAGTTCCTGCAGGTTTTCCTCTGCACCTTCA
original cDNA sequence snippet GCTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCA
altered cDNA sequence snippet GCTCAACCTGCAGTTCCTGCAGGTTTTCCTCTGCACCTTCA
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 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 LNLQFLQVFL 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 1.16 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