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 ENST00000529249
Genbank transcript ID N/A
UniProt peptide Q9UGI9
alteration type single base exchange
alteration region CDS
DNA changes c.211C>G
cDNA.527C>G
g.1323C>G
AA changes P71A Score: 27 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 71
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      71WTRQKSVEEGEPPGQGEGPRSRPA
mutated  not conserved    71TRQKSVEEGEAPGQGEGPRSRP
Ptroglodytes  all identical  ENSPTRG00000012929  71TRQKAVEEGEPPGQGEGPRSRP
Mmulatta  all identical  ENSMMUG00000021877  71TRQEVVEEGEPPGQGQGPRSRP
Fcatus  not conserved  ENSFCAG00000007064  60WTRQEAVAEGELPGLGEXXXXXX
Mmusculus  all identical  ENSMUSG00000006542  70TRQEAVEEAEPPGLGEGAQSRP
Ggallus  no alignment  ENSGALG00000011360  n/a
Trubripes  no alignment  ENSTRUG00000007613  n/a
Drerio  no alignment  ENSDARG00000000369  n/a
Dmelanogaster  not conserved  FBgn0025803  568VSVSDDEQDGSLGGAGR
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 1470 / 1470
position (AA) of stopcodon in wt / mu AA sequence 490 / 490
position of stopcodon in wt / mu cDNA 1786 / 1786
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 317 / 317
chromosome 2
strand -1
last intron/exon boundary 1670
theoretical NMD boundary in CDS 1303
length of CDS 1470
coding sequence (CDS) position 211
cDNA position
(for ins/del: last normal base / first normal base)		 527
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 MEPGLEHALR RTPSWSSLGG SEHQEMSFLE QENSSSWPSP AVTSSSERIR GKRRAKALRW
TRQKSVEEGE PPGQGEGPRS RPAAESTGLE ATFPKTTPLA QADPAGVGTP PTGWDCLPSD
CTASAAGSST DDVELATEFP ATEAWECELE GLLEERPALC LSPQAPFPKL GWDDELRKPG
AQIYMRFMQE HTCYDAMATS SKLVIFDTML EIKKAFFALV ANGVRAAPLW DSKKQSFVGM
LTITDFILVL HRYYRSPLVQ IYEIEQHKIE TWREIYLQGC FKPLVSISPN DSLFEAVYTL
IKNRIHRLPV LDPVSGNVLH ILTHKRLLKF LHIFGSLLPR PSFLYRTIQD LGIGTFRDLA
VVLETAPILT ALDIFVDRRV SALPVVNECG QVVGLYSRFD VIHLAAQQTY NHLDMSVGEA
LRQRTLCLEG VLSCQPHESL GEVIDRIARE QVHRLVLVDE TQHLLGVVSL SDILQALVLS
PAGIDALGA*
mutated AA sequence MEPGLEHALR RTPSWSSLGG SEHQEMSFLE QENSSSWPSP AVTSSSERIR GKRRAKALRW
TRQKSVEEGE APGQGEGPRS RPAAESTGLE ATFPKTTPLA QADPAGVGTP PTGWDCLPSD
CTASAAGSST DDVELATEFP ATEAWECELE GLLEERPALC LSPQAPFPKL GWDDELRKPG
AQIYMRFMQE HTCYDAMATS SKLVIFDTML EIKKAFFALV ANGVRAAPLW DSKKQSFVGM
LTITDFILVL HRYYRSPLVQ IYEIEQHKIE TWREIYLQGC FKPLVSISPN DSLFEAVYTL
IKNRIHRLPV LDPVSGNVLH ILTHKRLLKF LHIFGSLLPR PSFLYRTIQD LGIGTFRDLA
VVLETAPILT ALDIFVDRRV SALPVVNECG QVVGLYSRFD VIHLAAQQTY NHLDMSVGEA
LRQRTLCLEG VLSCQPHESL GEVIDRIARE QVHRLVLVDE TQHLLGVVSL SDILQALVLS
PAGIDALGA*
speed 1.22 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