Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999974732472659 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr10:115489152C>GN/A show variant in all transcripts   IGV
HGNC symbol CASP7
Ensembl transcript ID ENST00000452490
Genbank transcript ID N/A
UniProt peptide P55210
alteration type single base exchange
alteration region CDS
DNA changes c.690C>G
cDNA.718C>G
g.50211C>G
AA changes D230E Score: 45 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 230
frameshift no
known variant Reference ID: rs2227310
databasehomozygous (G/G)heterozygousallele carriers
1000G1828871069
ExAC43352286927204
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.9590.063
0.1290.091
(flanking)3.5440.998
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained502050.39mu: CACGGAAAAGAGCTG CGGA|aaag
distance from splice site 83
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      230ALCSILEEHGKDLEIMQILTRVND
mutated  all conserved    230ALCSILEEHGKELEIMQILTRV
Ptroglodytes  all identical  ENSPTRG00000002952  257ALCSILEEHGKDLEIMQILTRVN
Mmulatta  all identical  ENSMMUG00000001217  219ALCSILEEHGKDLEIMQILTRVN
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000025076  255ALCSILNEHGKDLEIMQILTRVN
Ggallus  not conserved  ENSGALG00000008933  225SLCSVLNEHGKQLEIMQILTRVN
Trubripes  not conserved  ENSTRUG00000012543  262ALCNVLSEFGKQLEIMQILTRVN
Drerio  not conserved  ENSDARG00000091836  269ALCNVLSEFGKQLEIMQILTRVN
Dmelanogaster  not conserved  FBgn0019972  281SLCAELAANGKRLDILTLLTFVC
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000016471  262ALCNVLNEHGKELEVMQILT
protein features
start (aa)end (aa)featuredetails 
232234STRANDmight get lost (downstream of altered splice site)
235237TURNmight get lost (downstream of altered splice site)
240252HELIXmight get lost (downstream of altered splice site)
253255TURNmight get lost (downstream of altered splice site)
258272HELIXmight get lost (downstream of altered splice site)
280282HELIXmight get lost (downstream of altered splice site)
290293STRANDmight get lost (downstream of altered splice site)
296298STRANDmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 837 / 837
position (AA) of stopcodon in wt / mu AA sequence 279 / 279
position of stopcodon in wt / mu cDNA 865 / 865
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 10
strand 1
last intron/exon boundary 636
theoretical NMD boundary in CDS 557
length of CDS 837
coding sequence (CDS) position 690
cDNA position
(for ins/del: last normal base / first normal base)		 718
gDNA position
(for ins/del: last normal base / first normal base)		 50211
chromosomal position
(for ins/del: last normal base / first normal base)		 115489152
original gDNA sequence snippet CTGGAGGAGCACGGAAAAGACCTGGAAATCATGCAGATCCT
altered gDNA sequence snippet CTGGAGGAGCACGGAAAAGAGCTGGAAATCATGCAGATCCT
original cDNA sequence snippet CTGGAGGAGCACGGAAAAGACCTGGAAATCATGCAGATCCT
altered cDNA sequence snippet CTGGAGGAGCACGGAAAAGAGCTGGAAATCATGCAGATCCT
wildtype AA sequence MQRGLFSDGD TSKKKKNVTM RSIKTTRDRV PTYQYNMNFE KLGKCIIINN KNFDKVTGMG
VRNGTDKDAE ALFKCFRSLG FDVIVYNDCS CAKMQDLLKK ASEEDHTNAA CFACILLSHG
EENVIYGKDG VTPIKDLTAH FRGDRCKTLL EKPKLFFIQA CRGTELDDGI QADSGPINDT
DANPRYKIPV EADFLFAYST VPGYYSWRSP GRGSWFVQAL CSILEEHGKD LEIMQILTRV
NDRVARHFES QSDDPHFHEK KQIPCVVSML TKELYFSQ*
mutated AA sequence MQRGLFSDGD TSKKKKNVTM RSIKTTRDRV PTYQYNMNFE KLGKCIIINN KNFDKVTGMG
VRNGTDKDAE ALFKCFRSLG FDVIVYNDCS CAKMQDLLKK ASEEDHTNAA CFACILLSHG
EENVIYGKDG VTPIKDLTAH FRGDRCKTLL EKPKLFFIQA CRGTELDDGI QADSGPINDT
DANPRYKIPV EADFLFAYST VPGYYSWRSP GRGSWFVQAL CSILEEHGKE LEIMQILTRV
NDRVARHFES QSDDPHFHEK KQIPCVVSML TKELYFSQ*
speed 0.73 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