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 ENST00000349748
Genbank transcript ID NM_173087
UniProt peptide P20807
alteration type single base exchange
alteration region CDS
DNA changes c.706G>A
cDNA.927G>A
g.40899G>A
AA changes A236T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 236
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      236TEAMEDFTGGVAEFFEIRDAPSDM
mutated  not conserved    236TEAMEDFTGGVTEFFE
Ptroglodytes  no homologue    
Mmulatta  not conserved  ENSMMUG00000001534  236TEAMEDFTGGVTEFFE
Fcatus  not conserved  ENSFCAG00000018326  109TEAMEDFTGGVTEFFEIKDAPRD
Mmusculus  not conserved  ENSMUSG00000079110  236TEAMEDFTGGVTEFFE
Ggallus  not conserved  ENSGALG00000009050  230TEAMEDFTGGVTEFYE
Trubripes  not conserved  ENSTRUG00000006900  217EDFTGGVTEFYEMKEAPKE
Drerio  not conserved  ENSDARG00000041864  217AEGMEDFTGGVTEF
Dmelanogaster  not conserved  FBgn0025866  421TEWYDIKEAPPN
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 2190 / 2190
position (AA) of stopcodon in wt / mu AA sequence 730 / 730
position of stopcodon in wt / mu cDNA 2411 / 2411
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 222 / 222
chromosome 15
strand 1
last intron/exon boundary 2385
theoretical NMD boundary in CDS 2113
length of CDS 2190
coding sequence (CDS) position 706
cDNA position
(for ins/del: last normal base / first normal base)		 927
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 MPTVISASVA PRTAAEPRSP GPVPHPAQSK ATEAGGGNPS GIYSAIISRN FPIIGVKEKT
FEQLHKKCLE KKVLYVDPEF PPDETSLFYS QKFPIQFVWK RPPEICENPR FIIDGANRTD
ICQGELGDCW FLAAIACLTL NQHLLFRVIP HDQSFIENYA GIFHFQFWRY GEWVDVVIDD
CLPTYNNQLV FTKSNHRNEF WSALLEKAYA KLHGSYEALK GGNTTEAMED FTGGVAEFFE
IRDAPSDMYK IMKKAIERGS LMGCSIDTII PVQYETRMAC GLVRGHAYSV TGLDEVPFKG
EKVKLVRLRN PWGQVEWNGS WSDRWKDWSF VDKDEKARLQ HQVTEDGEFW MSYEDFIYHF
TKLEICNLTA DALQSDKLQT WTVSVNEGRW VRGCSAGGCR NFPDTFWTNP QYRLKLLEED
DDPDDSEVIC SFLVALMQKN RRKDRKLGAS LFTIGFAIYE VPKEMHGNKQ HLQKDFFLYN
ASKARSKTYI NMREVSQRFR LPPSEYVIVP STYEPHQEGE FILRVFSEKR NLSEEVENTI
SVDRPVPQPG SSDQESEEQQ QFRNIFKQIA GDDMEICADE LKKVLNTVVN KHKDLKTHGF
TLESCRSMIA LMDTDGSGKL NLQEFHHLWN KIKAWQKIFK HYDTDQSGTI NSYEMRNAVN
DAGFHLNNQL YDIITMRYAD KHMNIDFDSF ICCFVRLEGM FRAFHAFDKD GDGIIKLNVL
EWLQLTMYA*
mutated AA sequence MPTVISASVA PRTAAEPRSP GPVPHPAQSK ATEAGGGNPS GIYSAIISRN FPIIGVKEKT
FEQLHKKCLE KKVLYVDPEF PPDETSLFYS QKFPIQFVWK RPPEICENPR FIIDGANRTD
ICQGELGDCW FLAAIACLTL NQHLLFRVIP HDQSFIENYA GIFHFQFWRY GEWVDVVIDD
CLPTYNNQLV FTKSNHRNEF WSALLEKAYA KLHGSYEALK GGNTTEAMED FTGGVTEFFE
IRDAPSDMYK IMKKAIERGS LMGCSIDTII PVQYETRMAC GLVRGHAYSV TGLDEVPFKG
EKVKLVRLRN PWGQVEWNGS WSDRWKDWSF VDKDEKARLQ HQVTEDGEFW MSYEDFIYHF
TKLEICNLTA DALQSDKLQT WTVSVNEGRW VRGCSAGGCR NFPDTFWTNP QYRLKLLEED
DDPDDSEVIC SFLVALMQKN RRKDRKLGAS LFTIGFAIYE VPKEMHGNKQ HLQKDFFLYN
ASKARSKTYI NMREVSQRFR LPPSEYVIVP STYEPHQEGE FILRVFSEKR NLSEEVENTI
SVDRPVPQPG SSDQESEEQQ QFRNIFKQIA GDDMEICADE LKKVLNTVVN KHKDLKTHGF
TLESCRSMIA LMDTDGSGKL NLQEFHHLWN KIKAWQKIFK HYDTDQSGTI NSYEMRNAVN
DAGFHLNNQL YDIITMRYAD KHMNIDFDSF ICCFVRLEGM FRAFHAFDKD GDGIIKLNVL
EWLQLTMYA*
speed 0.54 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