mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 0.999997314812314 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

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

ENST00000545803

Genbank transcript ID

N/A

UniProt peptide

Q9UGI9

alteration type

single base exchange

alteration region

5'UTR

DNA changes

cDNA.242C>G
g.1323C>G

AA changes

N/A

position(s) of altered AA
if AA alteration in CDS

N/A

frameshift

N/A

known variant

Reference ID: rs692243

database	homozygous (C/C)	heterozygous	allele carriers
1000G	123	662	785
ExAC	2326	16993	19319

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.034	0.001
	0.405	0.006
(flanking)	-0.179	0.012

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

splice site change before start ATG (at aa -99) |

effect	gDNA position	score	detection sequence	exon-intron border
Donor gained	1317	0.94	mu: AGGAAGGGGAGGCAC	GAAG\|ggga

distance from splice site

Kozak consensus sequence altered?

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
83	83	CONFLICT	A -> T (in Ref. 2; AAF73987).	might get lost (downstream of altered splice site)
188	189	CONFLICT	MQ -> IE (in Ref. 1; CAB65117).	might get lost (downstream of altered splice site)
197	258	DOMAIN	CBS 1.	might get lost (downstream of altered splice site)
225	225	BINDING	AMP 1 (By similarity).	might get lost (downstream of altered splice site)
225	225	BINDING	ATP 1 (By similarity).	might get lost (downstream of altered splice site)
280	340	DOMAIN	CBS 2.	might get lost (downstream of altered splice site)
293	314	MOTIF	AMPK pseudosubstrate.	might get lost (downstream of altered splice site)
306	306	BINDING	ATP 2 (By similarity).	might get lost (downstream of altered splice site)
306	306	BINDING	AMP 2 (By similarity).	might get lost (downstream of altered splice site)
306	306	BINDING	AMP 3 (By similarity).	might get lost (downstream of altered splice site)
307	307	BINDING	ATP 1 (By similarity).	might get lost (downstream of altered splice site)
307	307	BINDING	ATP 2 (By similarity).	might get lost (downstream of altered splice site)
325	325	BINDING	ATP 1 (By similarity).	might get lost (downstream of altered splice site)
325	325	BINDING	AMP 1 (By similarity).	might get lost (downstream of altered splice site)
355	415	DOMAIN	CBS 3.	might get lost (downstream of altered splice site)
423	423	CONFLICT	Q -> K (in Ref. 1; CAB65117).	might get lost (downstream of altered splice site)
427	486	DOMAIN	CBS 4.	might get lost (downstream of altered splice site)
453	453	BINDING	AMP 3 (By similarity).	might get lost (downstream of altered splice site)
454	454	BINDING	ATP 1 (By similarity).	might get lost (downstream of altered splice site)
454	454	BINDING	AMP 1 (By similarity).	might get lost (downstream of altered splice site)
486	489	CONFLICT	ALGA -> PSGPEKI (in Ref. 1; CAB65117).	might get lost (downstream of altered splice site)

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

position (AA) of stopcodon in wt / mu AA sequence

N/A

position of stopcodon in wt / mu cDNA

N/A

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

538 / 538

chromosome

strand

-1

last intron/exon boundary

1572

theoretical NMD boundary in CDS

984

length of CDS

918

coding sequence (CDS) position

N/A

cDNA position
(for ins/del: last normal base / first normal base)

242

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

AGTCGGTGGAGGAAGGGGAGCCACCAGGTCCCCGGTCCAGG

altered cDNA sequence snippet

AGTCGGTGGAGGAAGGGGAGGCACCAGGTCCCCGGTCCAGG

wildtype AA sequence

MRFMQEHTCY DAMATSSKLV IFDTMLEIKK AFFALVANGV RAAPLWDSKK QSFVGMLTIT
DFILVLHRYY RSPLVQIYEI EQHKIETWRE IYLQGCFKPL VSISPNDSLF EAVYTLIKNR
IHRLPVLDPV SGNVLHILTH KRLLKFLHIF GSLLPRPSFL YRTIQDLGIG TFRDLAVVLE
TAPILTALDI FVDRRVSALP VVNECGQVVG LYSRFDVIHL AAQQTYNHLD MSVGEALRQR
TLCLEGVLSC QPHESLGEVI DRIAREQVHR LVLVDETQHL LGVVSLSDIL QALVLSPAGI
DALGA*

mutated AA sequence

N/A

speed

1.09 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