Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999585 (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 CM078461)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr12:121712077T>AN/A show variant in all transcripts   IGV
HGNC symbol CAMKK2
Ensembl transcript ID ENST00000538733
Genbank transcript ID NM_153500
UniProt peptide Q96RR4
alteration type single base exchange
alteration region CDS
DNA changes c.253A>T
cDNA.831A>T
g.24035A>T
AA changes T85S Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 85
frameshift no
known variant Reference ID: rs3817190
databasehomozygous (A/A)heterozygousallele carriers
1000G48210981580
ExAC90781461123689

known disease mutation at this position, please check HGMD for details (HGMD ID CM078461)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.0460.007
-0.1640
(flanking)-2.6690
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased24040wt: 0.30 / mu: 0.88wt: GAGGTCCCCCTTGACACCTCCGGGTCCCAGGCCCGGCCCCA
mu: GAGGTCCCCCTTGACTCCTCCGGGTCCCAGGCCCGGCCCCA		 ctcc|GGGT
Acc marginally increased24042wt: 0.8977 / mu: 0.9722 (marginal change - not scored)wt: GGTCCCCCTTGACACCTCCGGGTCCCAGGCCCGGCCCCACC
mu: GGTCCCCCTTGACTCCTCCGGGTCCCAGGCCCGGCCCCACC		 ccgg|GTCC
Acc increased24041wt: 0.53 / mu: 0.90wt: AGGTCCCCCTTGACACCTCCGGGTCCCAGGCCCGGCCCCAC
mu: AGGTCCCCCTTGACTCCTCCGGGTCCCAGGCCCGGCCCCAC		 tccg|GGTC
Acc marginally increased24036wt: 0.4705 / mu: 0.4810 (marginal change - not scored)wt: CCAAGAGGTCCCCCTTGACACCTCCGGGTCCCAGGCCCGGC
mu: CCAAGAGGTCCCCCTTGACTCCTCCGGGTCCCAGGCCCGGC		 acac|CTCC
distance from splice site 219
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      85LEADGQEVPLDTSGSQARPHLSGR
mutated  all conserved    85LEADGQEVPLDSSGSQARPHLSG
Ptroglodytes  all identical  ENSPTRG00000005556  85LEADGQEVPLDTSGSQARPHLSG
Mmulatta  all identical  ENSMMUG00000016969  85LEADGQEVPLDTSGSQARPHLSG
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000029471  84PEADGQELPLEASDPESRSPLSG
Ggallus  all conserved  ENSGALG00000004011  69MSVAAVE---ESREPRAKLNLSG
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000078645  n/a
Dmelanogaster  no alignment  FBgn0040056  n/a
Celegans  no alignment  C05H8.1  n/a
Xtropicalis  not conserved  ENSXETG00000020962  77KLDDRKVLPVGRKDCKGKLNMTN
protein features
start (aa)end (aa)featuredetails 
100100MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
129129MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
133133MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
165172STRANDmight get lost (downstream of altered splice site)
165446DOMAINProtein kinase.might get lost (downstream of altered splice site)
171179NP_BINDATP (By similarity).might get lost (downstream of altered splice site)
178184STRANDmight get lost (downstream of altered splice site)
185188TURNmight get lost (downstream of altered splice site)
189197STRANDmight get lost (downstream of altered splice site)
194194BINDINGATP (By similarity).might get lost (downstream of altered splice site)
204226REGIONRP domain.might get lost (downstream of altered splice site)
206206CONFLICTG -> A (in Ref. 2; AAD31507).might get lost (downstream of altered splice site)
232241HELIXmight get lost (downstream of altered splice site)
251256STRANDmight get lost (downstream of altered splice site)
258268STRANDmight get lost (downstream of altered splice site)
286305HELIXmight get lost (downstream of altered splice site)
312312ACT_SITEProton acceptor (By similarity).might get lost (downstream of altered splice site)
315317HELIXmight get lost (downstream of altered splice site)
318320STRANDmight get lost (downstream of altered splice site)
326328STRANDmight get lost (downstream of altered splice site)
331331CONFLICTF -> I (in Ref. 6; BAF84761).might get lost (downstream of altered splice site)
338341STRANDmight get lost (downstream of altered splice site)
347347CONFLICTT -> Y (in Ref. 2; AAD31507).might get lost (downstream of altered splice site)
351353HELIXmight get lost (downstream of altered splice site)
356358HELIXmight get lost (downstream of altered splice site)
366368STRANDmight get lost (downstream of altered splice site)
369385HELIXmight get lost (downstream of altered splice site)
371371CONFLICTL -> K (in Ref. 2; AAD31507).might get lost (downstream of altered splice site)
395404HELIXmight get lost (downstream of altered splice site)
411413STRANDmight get lost (downstream of altered splice site)
417426HELIXmight get lost (downstream of altered splice site)
431433TURNmight get lost (downstream of altered splice site)
437440HELIXmight get lost (downstream of altered splice site)
444447HELIXmight get lost (downstream of altered splice site)
472477REGIONAutoinhibitory domain (By similarity).might get lost (downstream of altered splice site)
475500REGIONCalmodulin-binding (By similarity).might get lost (downstream of altered splice site)
495495MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
511511MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
554554CONFLICTA -> H (in Ref. 1; AAK91829).might get lost (downstream of altered splice site)
557557CONFLICTR -> N (in Ref. 1; AAK91829).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1497 / 1497
position (AA) of stopcodon in wt / mu AA sequence 499 / 499
position of stopcodon in wt / mu cDNA 2075 / 2075
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 579 / 579
chromosome 12
strand -1
last intron/exon boundary 2003
theoretical NMD boundary in CDS 1374
length of CDS 1497
coding sequence (CDS) position 253
cDNA position
(for ins/del: last normal base / first normal base)		 831
gDNA position
(for ins/del: last normal base / first normal base)		 24035
chromosomal position
(for ins/del: last normal base / first normal base)		 121712077
original gDNA sequence snippet GCCAAGAGGTCCCCCTTGACACCTCCGGGTCCCAGGCCCGG
altered gDNA sequence snippet GCCAAGAGGTCCCCCTTGACTCCTCCGGGTCCCAGGCCCGG
original cDNA sequence snippet GCCAAGAGGTCCCCCTTGACACCTCCGGGTCCCAGGCCCGG
altered cDNA sequence snippet GCCAAGAGGTCCCCCTTGACTCCTCCGGGTCCCAGGCCCGG
wildtype AA sequence MSSCVSSQPS SNRAAPQDEL GGRGSSSSES QKPCEALRGL SSLSIHLGME SFIVVTECEP
GCAVDLGLAR DRPLEADGQE VPLDTSGSQA RPHLSGRKLS LQERSQGGLA AGGSLDMNGR
CICPSLPYSP VSSPQSSPRL PRRPTVESHH VSITGMQDCV QLNQYTLKDE IGKGSYGVVK
LAYNENDNTY YAMKVLSKKK LIRQAGFPRR PPPRGTRPAP GGCIQPRGPI EQVYQEIAIL
KKLDHPNVVK LVEVLDDPNE DHLYMVFELV NQGPVMEVPT LKPLSEDQAR FYFQDLIKGI
EYLHYQKIIH RDIKPSNLLV GEDGHIKIAD FGVSNEFKGS DALLSNTVGT PAFMAPESLS
ETRKIFSGKA LDVWAMGVTL YCFVFGQCPF MDERIMCLHS KIKSQALEFP DQPDIAEDLK
DLITRMLDKN PESRIVVPEI KILVKTMIRK RSFGNPFEGS RREERSLSAP GNLLTKQGSE
DNLQGTDPPP VGEEEVLL*
mutated AA sequence MSSCVSSQPS SNRAAPQDEL GGRGSSSSES QKPCEALRGL SSLSIHLGME SFIVVTECEP
GCAVDLGLAR DRPLEADGQE VPLDSSGSQA RPHLSGRKLS LQERSQGGLA AGGSLDMNGR
CICPSLPYSP VSSPQSSPRL PRRPTVESHH VSITGMQDCV QLNQYTLKDE IGKGSYGVVK
LAYNENDNTY YAMKVLSKKK LIRQAGFPRR PPPRGTRPAP GGCIQPRGPI EQVYQEIAIL
KKLDHPNVVK LVEVLDDPNE DHLYMVFELV NQGPVMEVPT LKPLSEDQAR FYFQDLIKGI
EYLHYQKIIH RDIKPSNLLV GEDGHIKIAD FGVSNEFKGS DALLSNTVGT PAFMAPESLS
ETRKIFSGKA LDVWAMGVTL YCFVFGQCPF MDERIMCLHS KIKSQALEFP DQPDIAEDLK
DLITRMLDKN PESRIVVPEI KILVKTMIRK RSFGNPFEGS RREERSLSAP GNLLTKQGSE
DNLQGTDPPP VGEEEVLL*
speed 1.47 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