Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999530336 (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) chr2:219695487G>CN/A show variant in all transcripts   IGV
HGNC symbol PRKAG3
Ensembl transcript ID ENST00000439262
Genbank transcript ID NM_017431
UniProt peptide Q9UGI9
alteration type single base exchange
alteration region CDS
DNA changes c.136C>G
cDNA.232C>G
g.1323C>G
AA changes P46A Score: 27 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 46
frameshift no
known variant Reference ID: rs692243
databasehomozygous (C/C)heterozygousallele carriers
1000G123662785
ExAC23261699319319
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0340.001
0.4050.006
(flanking)-0.1790.012
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained13170.94mu: AGGAAGGGGAGGCAC GAAG|ggga
distance from splice site 19
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      46WTRQKSVEEGEPPGQGEGPRSRPA
mutated  not conserved    46WTRQKSVEEGEAPGQGEGPRSRP
Ptroglodytes  all identical  ENSPTRG00000012929  71WTRQKAVEEGEPPGQGEGPRSRP
Mmulatta  all identical  ENSMMUG00000021877  71WTRQEVVEEGEPPGQGQGPRSRP
Fcatus  not conserved  ENSFCAG00000007064  60WTRQEAVAEGELPGLGEXXXXXX
Mmusculus  all identical  ENSMUSG00000006542  71WTRQEAVEEAEPPGLGEGAQSRP
Ggallus  no alignment  ENSGALG00000011360  n/a
Trubripes  no alignment  ENSTRUG00000007613  n/a
Drerio  no alignment  ENSDARG00000000369  n/a
Dmelanogaster  not conserved  FBgn0025803  567VSVSDDEQDGSLGGAGRMPGSRP
Celegans  all identical  Y111B2A.8  527GPPTRNASGTSTGG
Xtropicalis  no alignment  ENSXETG00000013879  n/a
protein features
start (aa)end (aa)featuredetails 
8383CONFLICTA -> T (in Ref. 2; AAF73987).might get lost (downstream of altered splice site)
188189CONFLICTMQ -> IE (in Ref. 1; CAB65117).might get lost (downstream of altered splice site)
197258DOMAINCBS 1.might get lost (downstream of altered splice site)
225225BINDINGAMP 1 (By similarity).might get lost (downstream of altered splice site)
225225BINDINGATP 1 (By similarity).might get lost (downstream of altered splice site)
280340DOMAINCBS 2.might get lost (downstream of altered splice site)
293314MOTIFAMPK pseudosubstrate.might get lost (downstream of altered splice site)
306306BINDINGATP 2 (By similarity).might get lost (downstream of altered splice site)
306306BINDINGAMP 2 (By similarity).might get lost (downstream of altered splice site)
306306BINDINGAMP 3 (By similarity).might get lost (downstream of altered splice site)
307307BINDINGATP 1 (By similarity).might get lost (downstream of altered splice site)
307307BINDINGATP 2 (By similarity).might get lost (downstream of altered splice site)
325325BINDINGATP 1 (By similarity).might get lost (downstream of altered splice site)
325325BINDINGAMP 1 (By similarity).might get lost (downstream of altered splice site)
355415DOMAINCBS 3.might get lost (downstream of altered splice site)
423423CONFLICTQ -> K (in Ref. 1; CAB65117).might get lost (downstream of altered splice site)
427486DOMAINCBS 4.might get lost (downstream of altered splice site)
453453BINDINGAMP 3 (By similarity).might get lost (downstream of altered splice site)
454454BINDINGATP 1 (By similarity).might get lost (downstream of altered splice site)
454454BINDINGAMP 1 (By similarity).might get lost (downstream of altered splice site)
486489CONFLICTALGA -> PSGPEKI (in Ref. 1; CAB65117).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1395 / 1395
position (AA) of stopcodon in wt / mu AA sequence 465 / 465
position of stopcodon in wt / mu cDNA 1491 / 1491
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 97 / 97
chromosome 2
strand -1
last intron/exon boundary 1608
theoretical NMD boundary in CDS 1461
length of CDS 1395
coding sequence (CDS) position 136
cDNA position
(for ins/del: last normal base / first normal base)		 232
gDNA position
(for ins/del: last normal base / first normal base)		 1323
chromosomal position
(for ins/del: last normal base / first normal base)		 219695487
original gDNA sequence snippet AGTCGGTGGAGGAAGGGGAGCCACCAGGTCAGGGGGAAGGT
altered gDNA sequence snippet AGTCGGTGGAGGAAGGGGAGGCACCAGGTCAGGGGGAAGGT
original cDNA sequence snippet AGTCGGTGGAGGAAGGGGAGCCACCAGGTCAGGGGGAAGGT
altered cDNA sequence snippet AGTCGGTGGAGGAAGGGGAGGCACCAGGTCAGGGGGAAGGT
wildtype AA sequence MSFLEQENSS SWPSPAVTSS SERIRGKRRA KALRWTRQKS VEEGEPPGQG EGPRSRPAAE
STGLEATFPK TTPLAQADPA GVGTPPTGWD CLPSDCTASA AGSSTDDVEL ATEFPATEAW
ECELEGLLEE RPALCLSPQA PFPKLGWDDE LRKPGAQIYM RFMQEHTCYD AMATSSKLVI
FDTMLEIKKA FFALVANGVR AAPLWDSKKQ SFVGMLTITD FILVLHRYYR SPLVQIYEIE
QHKIETWREI YLQGCFKPLV SISPNDSLFE AVYTLIKNRI HRLPVLDPVS GNVLHILTHK
RLLKFLHIFG SLLPRPSFLY RTIQDLGIGT FRDLAVVLET APILTALDIF VDRRVSALPV
VNECGQVVGL YSRFDVIHLA AQQTYNHLDM SVGEALRQRT LCLEGVLSCQ PHESLGEVID
RIAREQVHRL VLVDETQHLL GVVSLSDILQ ALVLSPAGID ALGA*
mutated AA sequence MSFLEQENSS SWPSPAVTSS SERIRGKRRA KALRWTRQKS VEEGEAPGQG EGPRSRPAAE
STGLEATFPK TTPLAQADPA GVGTPPTGWD CLPSDCTASA AGSSTDDVEL ATEFPATEAW
ECELEGLLEE RPALCLSPQA PFPKLGWDDE LRKPGAQIYM RFMQEHTCYD AMATSSKLVI
FDTMLEIKKA FFALVANGVR AAPLWDSKKQ SFVGMLTITD FILVLHRYYR SPLVQIYEIE
QHKIETWREI YLQGCFKPLV SISPNDSLFE AVYTLIKNRI HRLPVLDPVS GNVLHILTHK
RLLKFLHIFG SLLPRPSFLY RTIQDLGIGT FRDLAVVLET APILTALDIF VDRRVSALPV
VNECGQVVGL YSRFDVIHLA AQQTYNHLDM SVGEALRQRT LCLEGVLSCQ PHESLGEVID
RIAREQVHRL VLVDETQHLL GVVSLSDILQ ALVLSPAGID ALGA*
speed 0.99 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