MutationTaster - study a chromosomal position

NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 4 transcript(s)...
Querying Taster for transcript #1: ENST00000529249
Querying Taster for transcript #2: ENST00000439262
Querying Taster for transcript #3: ENST00000545803
Querying Taster for transcript #4: ENST00000392098
MT speed 0 s - this script 3.972028 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
PRKAG3	polymorphism_automatic	2.35540476012375e-11	simple_aae		affected		P71A	single base exchange	rs692243		show file
PRKAG3	polymorphism_automatic	4.6966397437842e-10	simple_aae		affected		P71A	single base exchange	rs692243		show file
PRKAG3	polymorphism_automatic	4.6966397437842e-10	simple_aae		affected		P46A	single base exchange	rs692243		show file
PRKAG3	polymorphism_automatic	2.68518768598014e-06	without_aae		affected			single base exchange	rs692243		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999976446 (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

ENST00000392098

Genbank transcript ID

N/A

UniProt peptide

Q9UGI9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.211C>G
cDNA.244C>G
g.1323C>G

AA changes

P71A Score: 27 explain score(s)

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

frameshift

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

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

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

all identical

ENSPTRG00000012929

Mmulatta

all identical

ENSMMUG00000021877

Fcatus

not conserved

ENSFCAG00000007064

Mmusculus

all identical

ENSMUSG00000006542

Ggallus

no alignment

ENSGALG00000011360

n/a

Trubripes

no alignment

ENSTRUG00000007613

n/a

Drerio

no alignment

ENSDARG00000000369

n/a

Dmelanogaster

not conserved

FBgn0025803

568

Celegans

no alignment

Y111B2A.8

n/a

Xtropicalis

no alignment

ENSXETG00000013879

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

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1062 / 1062

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

354 / 354

position of stopcodon in wt / mu cDNA

1095 / 1095

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

34 / 34

chromosome

strand

-1

last intron/exon boundary

1156

theoretical NMD boundary in CDS

1072

length of CDS

1062

coding sequence (CDS) position

211

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

244

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 HRYYRSPLRS TCKAASSLWS PSLLMIACLK LSTPSSRTGS IACLFLTRCQ
ATYSTSSHTN ACSSSCTSLV PCCPGPPSST ALSKIWASAH SETWLWCWRQ HPS*

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 HRYYRSPLRS TCKAASSLWS PSLLMIACLK LSTPSSRTGS IACLFLTRCQ
ATYSTSSHTN ACSSSCTSLV PCCPGPPSST ALSKIWASAH SETWLWCWRQ HPS*

speed

0.87 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
back to results table

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

frameshift

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

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

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

all identical

ENSPTRG00000012929

Mmulatta

all identical

ENSMMUG00000021877

Fcatus

not conserved

ENSFCAG00000007064

Mmusculus

all identical

ENSMUSG00000006542

Ggallus

no alignment

ENSGALG00000011360

n/a

Trubripes

no alignment

ENSTRUG00000007613

n/a

Drerio

no alignment

ENSDARG00000000369

n/a

Dmelanogaster

not conserved

FBgn0025803

568

Celegans

all identical

Y111B2A.8

527

Xtropicalis

no alignment

ENSXETG00000013879

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

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

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

0.84 s

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

frameshift

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

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

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

all identical

ENSPTRG00000012929

Mmulatta

all identical

ENSMMUG00000021877

Fcatus

not conserved

ENSFCAG00000007064

Mmusculus

all identical

ENSMUSG00000006542

Ggallus

no alignment

ENSGALG00000011360

n/a

Trubripes

no alignment

ENSTRUG00000007613

n/a

Drerio

no alignment

ENSDARG00000000369

n/a

Dmelanogaster

not conserved

FBgn0025803

567

Celegans

all identical

Y111B2A.8

527

Xtropicalis

no alignment

ENSXETG00000013879

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

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

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

0.30 s

mutation t@sting

documentation

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

0.25 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems