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mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999998142      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM990324)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:202072837C>TN/A show variant in all transcripts   IGV
HGNC symbol CASP10
Ensembl transcript ID ENST00000286186
Genbank transcript ID NM_032977
UniProt peptide Q92851
alteration type single base exchange
alteration region CDS
DNA changes c.853C>T
cDNA.1288C>T
g.25234C>T
AA changes L285F Score: 22 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 285
frameshift no
known variant Reference ID: rs17860403
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC055

known disease mutation at this position, please check HGMD for details (HGMD ID CM990324)

known disease mutation at this position, please check HGMD for details (HGMD ID CM990324)
known disease mutation at this position, please check HGMD for details (HGMD ID CM990324)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.6540.004
-0.5040
(flanking)-0.1340.004
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased25228wt: 0.73 / mu: 0.81wt: ACCACAGAGGCCTCT
mu: ACCACAGAGGCTTCT		 CACA|gagg
distance from splice site 40
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      285AVYRMNRNHRGLCVIVNNHSFTSL
mutated  not conserved    285AVYRMNRNHRGFCVIVNNHSFTS
Ptroglodytes  all identical  ENSPTRG00000012800  284TVYRMNRNHRGLCVIVNNHSFTS
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  not conserved  ENSTRUG00000017426  254--YLMTAAKRGRCLIINNCNFRVSR
Drerio  all conserved  ENSDARG00000070272  278SVEQYEMKGERRGVCLIINNYDFSA
Dmelanogaster  all conserved  FBgn0019972  86AEYNMRHKNRGM
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000004145  269EFYDMNHKHRGYCLIIDNSVFMK
protein features
start (aa)end (aa)featuredetails 
358358ACT_SITEBy similarity.might get lost (downstream of altered splice site)
401401ACT_SITEBy similarity.might get lost (downstream of altered splice site)
401401MUTAGENC->A: Abolishes proteolytic activity.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1569 / 1569
position (AA) of stopcodon in wt / mu AA sequence 523 / 523
position of stopcodon in wt / mu cDNA 2004 / 2004
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 436 / 436
chromosome 2
strand 1
last intron/exon boundary 1851
theoretical NMD boundary in CDS 1365
length of CDS 1569
coding sequence (CDS) position 853
cDNA position
(for ins/del: last normal base / first normal base)		 1288
gDNA position
(for ins/del: last normal base / first normal base)		 25234
chromosomal position
(for ins/del: last normal base / first normal base)		 202072837
original gDNA sequence snippet TGAATCGGAACCACAGAGGCCTCTGTGTCATTGTCAACAAC
altered gDNA sequence snippet TGAATCGGAACCACAGAGGCTTCTGTGTCATTGTCAACAAC
original cDNA sequence snippet TGAATCGGAACCACAGAGGCCTCTGTGTCATTGTCAACAAC
altered cDNA sequence snippet TGAATCGGAACCACAGAGGCTTCTGTGTCATTGTCAACAAC
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 KTFLEALPQE SWQNKHAGSN
GNRATNGAPS LVSRGMQGAS ANTLNSETST KRAAVYRMNR NHRGLCVIVN NHSFTSLKDR
QGTHKDAEIL SHVFQWLGFT VHIHNNVTKV EMEMVLQKQK CNPAHADGDC FVFCILTHGR
FGAVYSSDEA LIPIREIMSH FTALQCPRLA EKPKLFFIQA CQGEEIQPSV SIEADALNPE
QAPTSLQDSI PAEADFLLGL ATVPGYVSFR HVEEGSWYIQ SLCNHLKKLV PRHEDILSIL
TAVNDDVSRR VDKQGTKKQM PQPAFTLRKK LVFPVPLDAL SL*
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 KTFLEALPQE SWQNKHAGSN
GNRATNGAPS LVSRGMQGAS ANTLNSETST KRAAVYRMNR NHRGFCVIVN NHSFTSLKDR
QGTHKDAEIL SHVFQWLGFT VHIHNNVTKV EMEMVLQKQK CNPAHADGDC FVFCILTHGR
FGAVYSSDEA LIPIREIMSH FTALQCPRLA EKPKLFFIQA CQGEEIQPSV SIEADALNPE
QAPTSLQDSI PAEADFLLGL ATVPGYVSFR HVEEGSWYIQ SLCNHLKKLV PRHEDILSIL
TAVNDDVSRR VDKQGTKKQM PQPAFTLRKK LVFPVPLDAL SL*
speed 0.98 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