Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.963702797157258 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM099258)
  • protein features (might be) affected
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analysed issue analysis result
name of alteration no title
alteration (phys. location) chr15:42681199G>AN/A show variant in all transcripts   IGV
HGNC symbol CAPN3
Ensembl transcript ID ENST00000356316
Genbank transcript ID N/A
UniProt peptide P20807
alteration type single base exchange
alteration region CDS
DNA changes c.445G>A
cDNA.937G>A
g.40899G>A
AA changes A149T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 149
frameshift no
known variant Reference ID: rs1801449
databasehomozygous (A/A)heterozygousallele carriers
1000G379595974
ExAC2578987212450

known disease mutation at this position, please check HGMD for details (HGMD ID CM099258)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.5481
3.4831
(flanking)6.0921
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased40892wt: 0.4647 / mu: 0.4861 (marginal change - not scored)wt: ACAGGAGGGGTGGCA
mu: ACAGGAGGGGTGACA		 AGGA|gggg
Donor marginally increased40890wt: 0.7963 / mu: 0.8530 (marginal change - not scored)wt: TCACAGGAGGGGTGG
mu: TCACAGGAGGGGTGA		 ACAG|gagg
distance from splice site 74
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      149TEAMEDFTGGVAEFFEIRDAPSDM
mutated  not conserved    149TEAMEDFTGGVTEFFEIRDAPSD
Ptroglodytes  no homologue    
Mmulatta  not conserved  ENSMMUG00000001534  236TEAMEDFTGGVTEFFEIRDAPSD
Fcatus  not conserved  ENSFCAG00000018326  109TEAMEDFTGGVTEFFEIKDAPRD
Mmusculus  not conserved  ENSMUSG00000079110  236TEAMEDFTGGVTEFFEIKDAPSD
Ggallus  not conserved  ENSGALG00000009050  230TEAMEDFTGGVTEFYEIKDAPKD
Trubripes  not conserved  ENSTRUG00000006900  217TEAMEDFTGGVTEFYEMKEAPKE
Drerio  not conserved  ENSDARG00000041864  217AEGMEDFTGGVTEFYEMKEAPKE
Dmelanogaster  not conserved  FBgn0025866  421CEAMEDFTGGVTEWYDIKEAPPN
Celegans  not conserved  C06G4.2  478SEALEDMTGGLTEFIDLKNPPRN
Xtropicalis  not conserved  ENSXETG00000012304  133TEAMEDFTGGVTEFYELKEAPKD
protein features
start (aa)end (aa)featuredetails 
74417DOMAINCalpain catalytic.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2187 / 2187
position (AA) of stopcodon in wt / mu AA sequence 729 / 729
position of stopcodon in wt / mu cDNA 2679 / 2679
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 493 / 493
chromosome 15
strand 1
last intron/exon boundary 2653
theoretical NMD boundary in CDS 2110
length of CDS 2187
coding sequence (CDS) position 445
cDNA position
(for ins/del: last normal base / first normal base)		 937
gDNA position
(for ins/del: last normal base / first normal base)		 40899
chromosomal position
(for ins/del: last normal base / first normal base)		 42681199
original gDNA sequence snippet AGGACTTCACAGGAGGGGTGGCAGAGTTTTTTGAGATCAGG
altered gDNA sequence snippet AGGACTTCACAGGAGGGGTGACAGAGTTTTTTGAGATCAGG
original cDNA sequence snippet AGGACTTCACAGGAGGGGTGGCAGAGTTTTTTGAGATCAGG
altered cDNA sequence snippet AGGACTTCACAGGAGGGGTGACAGAGTTTTTTGAGATCAGG
wildtype AA sequence MSWQISLKTQ TTQQKNEICE NPRFIIDGAN RTDICQGELG DCWFLAAIAC LTLNQHLLFR
VIPHDQSFIE NYAGIFHFQF WRYGEWVDVV IDDCLPTYNN QLVFTKSNHR NEFWSALLEK
AYAKLHGSYE ALKGGNTTEA MEDFTGGVAE FFEIRDAPSD MYKIMKKAIE RGSLMGCSID
DGTNMTYGTS PSGLNMGELI ARMVRNMDNS LLQDSDLDPR GSDERPTRTI IPVQYETRMA
CGLVRGHAYS VTGLDEVPFK GEKVKLVRLR NPWGQVEWNG SWSDRWKDWS FVDKDEKARL
QHQVTEDGEF WMSYEDFIYH FTKLEICNLT ADALQSDKLQ TWTVSVNEGR WVRGCSAGGC
RNFPDTFWTN PQYRLKLLEE DDDPDDSEVI CSFLVALMQK NRRKDRKLGA SLFTIGFAIY
EVPKEMHGNK QHLQKDFFLY NASKARSKTY INMREVSQRF RLPPSEYVIV PSTYEPHQEG
EFILRVFSEK RNLSEEVENT ISVDRPVPII FVSDRANSNK ELGVDQESEE GKGKTSPDKQ
KQSPQPQPGS SDQESEEQQQ FRNIFKQIAG DDMEICADEL KKVLNTVVNK HKDLKTHGFT
LESCRSMIAL MDTDGSGKLN LQEFHHLWNK IKAWQKIFKH YDTDQSGTIN SYEMRNAVND
AGFHLNNQLY DIITMRYADK HMNIDFDSFI CCFVRLEGMF RAFHAFDKDG DGIIKLNVLE
WLQLTMYA*
mutated AA sequence MSWQISLKTQ TTQQKNEICE NPRFIIDGAN RTDICQGELG DCWFLAAIAC LTLNQHLLFR
VIPHDQSFIE NYAGIFHFQF WRYGEWVDVV IDDCLPTYNN QLVFTKSNHR NEFWSALLEK
AYAKLHGSYE ALKGGNTTEA MEDFTGGVTE FFEIRDAPSD MYKIMKKAIE RGSLMGCSID
DGTNMTYGTS PSGLNMGELI ARMVRNMDNS LLQDSDLDPR GSDERPTRTI IPVQYETRMA
CGLVRGHAYS VTGLDEVPFK GEKVKLVRLR NPWGQVEWNG SWSDRWKDWS FVDKDEKARL
QHQVTEDGEF WMSYEDFIYH FTKLEICNLT ADALQSDKLQ TWTVSVNEGR WVRGCSAGGC
RNFPDTFWTN PQYRLKLLEE DDDPDDSEVI CSFLVALMQK NRRKDRKLGA SLFTIGFAIY
EVPKEMHGNK QHLQKDFFLY NASKARSKTY INMREVSQRF RLPPSEYVIV PSTYEPHQEG
EFILRVFSEK RNLSEEVENT ISVDRPVPII FVSDRANSNK ELGVDQESEE GKGKTSPDKQ
KQSPQPQPGS SDQESEEQQQ FRNIFKQIAG DDMEICADEL KKVLNTVVNK HKDLKTHGFT
LESCRSMIAL MDTDGSGKLN LQEFHHLWNK IKAWQKIFKH YDTDQSGTIN SYEMRNAVND
AGFHLNNQLY DIITMRYADK HMNIDFDSFI CCFVRLEGMF RAFHAFDKDG DGIIKLNVLE
WLQLTMYA*
speed 1.05 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