Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999992 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:202082459T>AN/A show variant in all transcripts   IGV
HGNC symbol CASP10
Ensembl transcript ID ENST00000346817
Genbank transcript ID NM_001230
UniProt peptide Q92851
alteration type single base exchange
alteration region CDS
DNA changes c.1435T>A
cDNA.1582T>A
g.34856T>A
AA changes L479I Score: 5 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 479
frameshift no
known variant Reference ID: rs13006529
databasehomozygous (A/A)heterozygousallele carriers
1000G28910701359
ExAC107691122921998
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.5060
-0.4340
(flanking)-1.3050
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 increased34848wt: 0.3478 / mu: 0.3575 (marginal change - not scored)wt: ATTCCCTGTGCCCCTGGATGCACTTTCATTATAGCAGAGAG
mu: ATTCCCTGTGCCCCTGGATGCACTTTCAATATAGCAGAGAG		 atgc|ACTT
Donor marginally increased34860wt: 0.9641 / mu: 0.9793 (marginal change - not scored)wt: ATTATAGCAGAGAGT
mu: AATATAGCAGAGAGT		 TATA|gcag
Donor increased34855wt: 0.59 / mu: 0.75wt: CTTTCATTATAGCAG
mu: CTTTCAATATAGCAG		 TTCA|ttat
distance from splice site 149
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      479LVFPVPLDALSL*
mutated  all conserved    479LVFPVPLDALSI
Ptroglodytes  no alignment  ENSPTRG00000012800  n/a
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no alignment  ENSTRUG00000017426  n/a
Drerio  no alignment  ENSDARG00000070272  n/a
Dmelanogaster  no alignment  FBgn0019972  n/a
Celegans  no homologue    
Xtropicalis  no alignment  ENSXETG00000004145  n/a
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1440 / 1440
position (AA) of stopcodon in wt / mu AA sequence 480 / 480
position of stopcodon in wt / mu cDNA 1587 / 1587
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 148 / 148
chromosome 2
strand 1
last intron/exon boundary 1434
theoretical NMD boundary in CDS 1236
length of CDS 1440
coding sequence (CDS) position 1435
cDNA position
(for ins/del: last normal base / first normal base)		 1582
gDNA position
(for ins/del: last normal base / first normal base)		 34856
chromosomal position
(for ins/del: last normal base / first normal base)		 202082459
original gDNA sequence snippet TGCCCCTGGATGCACTTTCATTATAGCAGAGAGTTTTTGTT
altered gDNA sequence snippet TGCCCCTGGATGCACTTTCAATATAGCAGAGAGTTTTTGTT
original cDNA sequence snippet TGCCCCTGGATGCACTTTCATTATAGCAGAGAGTTTTTGTT
altered cDNA sequence snippet TGCCCCTGGATGCACTTTCAATATAGCAGAGAGTTTTTGTT
wildtype AA sequence MKSQGQHWYS SSDKNCKVSF REKLLIIDSN LGVQDVENLK FLCIGLVPNK KLEKSSSASD
VFEHLLAEDL LSEEDPFFLA ELLYIIRQKK LLQHLNCTKE EVERLLPTRQ RVSLFRNLLY
ELSEGIDSEN LKDMIFLLKD SLPKTEMTSL SFLAFLEKQG KIDEDNLTCL EDLCKTVVPK
LLRNIEKYKR EKAIQIVTPP VDKEAESYQG EEELVSQTDV KTFLEALPRA AVYRMNRNHR
GLCVIVNNHS FTSLKDRQGT HKDAEILSHV FQWLGFTVHI HNNVTKVEME MVLQKQKCNP
AHADGDCFVF CILTHGRFGA VYSSDEALIP IREIMSHFTA LQCPRLAEKP KLFFIQACQG
EEIQPSVSIE ADALNPEQAP TSLQDSIPAE ADFLLGLATV PGYVSFRHVE EGSWYIQSLC
NHLKKLVPRH EDILSILTAV NDDVSRRVDK QGTKKQMPQP AFTLRKKLVF PVPLDALSL*
mutated AA sequence MKSQGQHWYS SSDKNCKVSF REKLLIIDSN LGVQDVENLK FLCIGLVPNK KLEKSSSASD
VFEHLLAEDL LSEEDPFFLA ELLYIIRQKK LLQHLNCTKE EVERLLPTRQ RVSLFRNLLY
ELSEGIDSEN LKDMIFLLKD SLPKTEMTSL SFLAFLEKQG KIDEDNLTCL EDLCKTVVPK
LLRNIEKYKR EKAIQIVTPP VDKEAESYQG EEELVSQTDV KTFLEALPRA AVYRMNRNHR
GLCVIVNNHS FTSLKDRQGT HKDAEILSHV FQWLGFTVHI HNNVTKVEME MVLQKQKCNP
AHADGDCFVF CILTHGRFGA VYSSDEALIP IREIMSHFTA LQCPRLAEKP KLFFIQACQG
EEIQPSVSIE ADALNPEQAP TSLQDSIPAE ADFLLGLATV PGYVSFRHVE EGSWYIQSLC
NHLKKLVPRH EDILSILTAV NDDVSRRVDK QGTKKQMPQP AFTLRKKLVF PVPLDALSI*
speed 1.19 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